protein_external_id preferred_name protein_size annotation 9606.ENSP00000000233 ARF5 180 ADP-ribosylation factor 5; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus; ARF GTPase family 9606.ENSP00000000412 M6PR 277 Cation-dependent mannose-6-phosphate receptor; Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex; MRH domain containing 9606.ENSP00000001008 FKBP4 459 Peptidyl-prolyl cis-trans isomerase FKBP4; Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role a [...] 9606.ENSP00000001146 CYP26B1 512 Cytochrome P450 26B1; Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH- RA. Essential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required [...] 9606.ENSP00000002125 NDUFAF7 441 Protein arginine methyltransferase NDUFAF7, mitochondrial; Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex; Belongs to the NDUFAF7 family 9606.ENSP00000002165 FUCA2 467 Plasma alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins; Belongs to the glycosyl hydrolase 29 family 9606.ENSP00000002596 HS3ST1 307 Heparan sulfate glucosamine 3-O-sulfotransferase 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site 9606.ENSP00000002829 SEMA3F 785 Semaphorin-3F; May play a role in cell motility and cell adhesion; Immunoglobulin like domain containing 9606.ENSP00000003084 CFTR 1480 Cystic fibrosis transmembrane conductance regulator; Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH [...] 9606.ENSP00000003100 CYP51A1 509 Lanosterol 14-alpha demethylase; Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol; Cytochrome P450 family 51 9606.ENSP00000003302 USP28 1077 Ubiquitin carboxyl-terminal hydrolase 28; Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically intera [...] 9606.ENSP00000004531 SLC7A2 698 Cationic amino acid transporter 2; Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine). May play a role in classic [...] 9606.ENSP00000005178 PDK4 411 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonge [...] 9606.ENSP00000005226 USH1C 899 Harmonin; Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips; Deafness associated genes 9606.ENSP00000005257 RALA 206 Ras-related protein Ral-A; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling. Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of th [...] 9606.ENSP00000005260 BAIAP2L1 511 Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1; May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection; I-BAR domain containing 9606.ENSP00000005284 CACNG3 315 Voltage-dependent calcium channel gamma-3 subunit; Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state 9606.ENSP00000005286 TMEM132A 1024 Transmembrane protein 132A; May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation (By similarity); Belongs to the TMEM132 family 9606.ENSP00000005340 DVL2 736 Segment polarity protein dishevelled homolog DVL-2; Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C- terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling; Belongs to the DSH family 9606.ENSP00000005386 RPAP3 665 RNA polymerase II-associated protein 3; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation; Belongs to the RPAP3 family 9606.ENSP00000005587 SKAP2 359 Src kinase-associated phosphoprotein 2; May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway; Belongs to the SKAP family 9606.ENSP00000005995 PRSS21 314 Testisin; Could regulate proteolytic events associated with testicular germ cell maturation; Serine proteases 9606.ENSP00000006015 HOXA11 313 Homeobox protein Hox-A11; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000006053 CX3CL1 397 Fractalkine; Acts as a ligand for both CX3CR1 and integrins. Binds to CX3CR1. Binds to integrins ITGAV:ITGB3 and ITGA4:ITGB1. Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner. In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins. In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1. The soluble form is chemotactic for T-cells and monocytes and not for neutrophils. The membrane-bound fo [...] 9606.ENSP00000006275 TRAPPC6A 173 Trafficking protein particle complex subunit 6A; May play a role in vesicular transport during the biogenesis of melanosomes; Trafficking protein particle complex 9606.ENSP00000006526 WDR54 334 WD repeat-containing protein 54; WD repeat domain containing 9606.ENSP00000006658 SPATA20 802 Spermatogenesis-associated protein 20; May play a role in fertility regulation 9606.ENSP00000006724 CEACAM7 265 Carcinoembryonic antigen related cell adhesion molecule family; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000006777 RHBDD2 364 Rhomboid domain containing 2; Belongs to the peptidase S54 family 9606.ENSP00000007390 TSR3 312 Ribosome biogenesis protein TSR3 homolog; Probable pre-rRNA processing protein involved in ribosome biogenesis 9606.ENSP00000007414 OSBPL7 842 Oxysterol-binding protein-related protein 7; Pleckstrin homology domain containing; Belongs to the OSBP family 9606.ENSP00000007699 YBX2 364 Y-box-binding protein 2; Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full-length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5'-UCCAUCA-3' with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplasm [...] 9606.ENSP00000007722 ITGA3 1066 Integrin alpha-3; Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha- 3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration; CD molecules 9606.ENSP00000007735 KRT33A 404 Keratin, type I cuticular Ha3-I; Keratins, type I; Belongs to the intermediate filament family 9606.ENSP00000008391 TFAP2D 452 Transcription factor AP-2-delta; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC (By similarity) 9606.ENSP00000008527 CRY1 586 Cryptochrome-1; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time- keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and rena [...] 9606.ENSP00000008938 PGLYRP1 196 Peptidoglycan recognition protein 1; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram- negative bacteria, and has bacteriostatic activity towards Gram- negative bacteria. Plays a role in innate immunity; Peptidoglycan recognition proteins 9606.ENSP00000009041 STARD3NL 234 STARD3 N-terminal-like protein; Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB; Belongs to the STARD3 family 9606.ENSP00000009105 CAMK1G 476 Calcium/calmodulin-dependent protein kinase type 1G; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily 9606.ENSP00000009530 CD74 296 HLA class II histocompatibility antigen gamma chain; Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF; CD molecules 9606.ENSP00000010299 FAM76A 341 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; Family with sequence similarity 76 member A 9606.ENSP00000011292 CPA1 419 Carboxypeptidase A1; Carboxypeptidase that catalyzes the release of a C- terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro; Belongs to the peptidase M14 family 9606.ENSP00000011473 SYPL1 259 Synaptophysin-like protein 1; Synaptophysin like 1; Belongs to the synaptophysin/synaptobrevin family 9606.ENSP00000011619 RANBP9 729 Ran-binding protein 9; May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation. Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity. Inhibits the kinase activity o [...] 9606.ENSP00000011653 CD4 458 T-cell surface glycoprotein CD4; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kina [...] 9606.ENSP00000011898 TSPAN9 239 Tetraspanin-9; Tetraspanin 9; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000012049 QPCTL 382 Glutaminyl-peptide cyclotransferase-like protein; Responsible for the biosynthesis of pyroglutamyl peptides 9606.ENSP00000012443 PPP5C 499 Serine/threonine-protein phosphatase 5; Serine/threonine-protein phosphatase that dephosphorylates a myriad of proteins involved in different signaling pathways including the kinases CSNK1E, ASK1/MAP3K5, PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2, SMAD proteins and TAU/MAPT. Implicated in wide ranging cellular processes, including apoptosis, differentiation, DNA damage response, cell survival, regulation of ion channels or circadian rhythms, in response to steroid and thyroid hormones, calcium, fatty acids, TGF-beta as well as oxidative and genotoxic stresses. Pa [...] 9606.ENSP00000013070 UBR7 425 Putative E3 ubiquitin-protein ligase UBR7; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation 9606.ENSP00000013125 MAP4K5 846 Mitogen-activated protein kinase kinase kinase kinase 5; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway; Mitogen-activated protein kinase kinase kinase kinases 9606.ENSP00000013222 INMT 263 Indolethylamine N-methyltransferase; Functions as thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2- methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000013807 ERCC1 323 DNA excision repair protein ERCC-1; Isoform 1: Non-catalytic component of a structure- specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4; ERCC excision [...] 9606.ENSP00000014914 GPRC5A 357 Retinoic acid-induced protein 3; Orphan receptor. Could be involved in modulating differentiation and maintaining homeostasis of epithelial cells. This retinoic acid-inducible GPCR provide evidence for a possible interaction between retinoid and G-protein signaling pathways. Functions as a negative modulator of EGFR signaling (By similarity). May act as a lung tumor suppressor 9606.ENSP00000014930 HEBP1 189 Heme-binding protein 1; May bind free porphyrinogens that may be present in the cell and thus facilitate removal of these potentially toxic compound. Binds with a high affinity to one molecule of heme or porphyrins. It binds metalloporphyrins, free porphyrins and N- methylprotoporphyrin with similar affinities; Belongs to the HEBP family 9606.ENSP00000016171 COX15 410 Cytochrome c oxidase assembly protein COX15 homolog; May be involved in the biosynthesis of heme A; Mitochondrial respiratory chain complex assembly factors 9606.ENSP00000016913 MS4A12 267 Membrane-spanning 4-domains subfamily A member 12; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family 9606.ENSP00000016946 RGPD5 1765 RANBP2-like and GRIP domain containing 5; Tetratricopeptide repeat domain containing 9606.ENSP00000017003 XYLT2 865 Xylosyltransferase 2; Involved in the formation of heparan sulfate and chondroitin sulfate proteoglycans. Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes (By similarity). Its enzyme activity has not been demonstrated; Belongs to the glycosyltransferase 14 family. XylT subfamily 9606.ENSP00000019103 SCTR 440 Secretin receptor; This is a receptor for secretin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase; Glucagon receptor family 9606.ENSP00000019317 RALBP1 655 RalA-binding protein 1; Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off [...] 9606.ENSP00000020673 PSD 1024 PH and SEC7 domain-containing protein 1; Guanine nucleotide exchange factor for ARF6. Induces cytoskeletal remodeling (By similarity); Belongs to the PSD family 9606.ENSP00000020926 SYT13 426 Synaptotagmin-13; May be involved in transport vesicle docking to the plasma membrane; Belongs to the synaptotagmin family 9606.ENSP00000023064 SLC7A9 487 B(0,+)-type amino acid transporter 1; Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule; Belongs to the amino acid-polyamine-organocation (APC) superfamily 9606.ENSP00000023939 RTFDC1 336 Protein RTF2 homolog; Replication termination factor 2 domain containing 1; Belongs to the rtf2 family 9606.ENSP00000025008 RB1CC1 1594 RB1-inducible coiled-coil protein 1; Involved in autophagy. Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1. Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their [...] 9606.ENSP00000025301 AKAP11 1901 A-kinase anchor protein 11; Binds to type II regulatory subunits of protein kinase A and anchors/targets them; Belongs to the AKAP110 family 9606.ENSP00000026218 PIGQ 760 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis; Belongs to the PIGQ family 9606.ENSP00000027335 CDH17 832 Cadherin-17; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport 9606.ENSP00000029410 B4GALT7 327 Beta-1,4-galactosyltransferase 7; Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts; Belongs to the glycosyltransferase 7 family 9606.ENSP00000033079 FAM13B 915 Protein FAM13B; Family with sequence similarity 13 member B; Rho GTPase activating proteins 9606.ENSP00000035307 CHPF2 772 Chondroitin sulfate glucuronyltransferase; Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N- acetylgalactosaminyltransferase activity; Beta 3-glycosyltransferases 9606.ENSP00000035383 LRRC7 1537 Leucine-rich repeat-containing protein 7; Required for normal synaptic spine architecture and function. Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term depression; Belongs to the LAP (LRR and PDZ) protein family 9606.ENSP00000037243 GABARAPL2 117 Gamma-aminobutyric acid receptor-associated protein-like 2; Ubiquitin-like modifier involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy. Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved [...] 9606.ENSP00000037502 MYOC 504 Myocilin; Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migrat [...] 9606.ENSP00000037869 FAM136A 138 Protein FAM136A; Family with sequence similarity 136 member A; Belongs to the FAM136 family 9606.ENSP00000039007 OTC 354 Ornithine carbamoyltransferase, mitochondrial; Ornithine carbamoyltransferase; Belongs to the ATCase/OTCase family 9606.ENSP00000039989 TTC17 1141 Tetratricopeptide repeat protein 17; Plays a role in primary ciliogenesis by modulating actin polymerization; Tetratricopeptide repeat domain containing 9606.ENSP00000040584 HOXC8 242 Homeobox protein Hox-C8; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family 9606.ENSP00000040663 MRI1 369 Methylthioribose-1-phosphate isomerase; Catalyzes the interconversion of methylthioribose-1- phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1- P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover 9606.ENSP00000040738 BOD1L1 3051 Biorientation of chromosomes in cell division protein 1-like 1; Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2- dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBXO18/FBH1 and BLM. Does not regulate spindle orientation 9606.ENSP00000040877 TARBP1 1621 Probable methyltransferase TARBP1; Probable S-adenosyl-L-methionine-dependent methyltransferase which methylates RNA molecules such as tRNAs. In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II. Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA. May act by methylating HIV-1 TAR RNA; Armadillo-like helical domain containing 9606.ENSP00000043402 RTN4R 473 Reticulon-4 receptor; Receptor for RTN4, OMG and MAG. Functions as receptor for the sialylated gangliosides GT1b and GM1. Besides, functions as receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR. Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton. Mediates axonal growth inhibition. Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain develo [...] 9606.ENSP00000044462 PSMA4 261 Proteasome subunit alpha type-4; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] 9606.ENSP00000046087 ZPBP 351 Zona pellucida-binding protein 1; Plays a role in acrosome compaction and sperm morphogenesis. Is implicated in sperm-oocyte interaction during fertilization (By similarity); Immunoglobulin like domain containing 9606.ENSP00000046794 LCP2 533 Lymphocyte cytosolic protein 2; Involved in T-cell antigen receptor mediated signaling; SH2 domain containing 9606.ENSP00000052754 DCN 359 Decorin; May affect the rate of fibrils formation; Small leucine rich repeat proteoglycans 9606.ENSP00000053243 TNFRSF17 184 Tumor necrosis factor receptor superfamily member 17; Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK; CD molecules 9606.ENSP00000053468 MRPS10 201 Mitochondrial ribosomal protein S10; Belongs to the universal ribosomal protein uS10 family 9606.ENSP00000053867 GRN 593 Granulins; Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling 9606.ENSP00000054650 THAP3 239 THAP domain-containing protein 3; Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1; THAP domain containing 9606.ENSP00000054666 VAMP3 100 Vesicle-associated membrane protein 3; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network; Belongs to the synaptobrevin family 9606.ENSP00000054668 UTS2 139 Urotensin 2; Endogenous ligands 9606.ENSP00000054950 RCN1 331 Reticulocalbin-1; May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment; EF-hand domain containing 9606.ENSP00000055077 RFC2 354 Replication factor C subunit 2; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity) 9606.ENSP00000055335 PPP1R3F 799 Protein phosphatase 1 regulatory subunit 3F; Glycogen-targeting subunit for protein phosphatase 1 (PP1) 9606.ENSP00000055682 KIAA2022 1516 Neurite extension and migration factor; Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1) 9606.ENSP00000056217 ARHGEF5 1597 Rho guanine nucleotide exchange factor 5; Guanine nucleotide exchange factor which activates Rho GTPases. Strongly activates RHOA. Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization. Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia. Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration [...] 9606.ENSP00000056233 NFE2L3 694 Nuclear factor erythroid 2-related factor 3; Activates erythroid-specific, globin gene expression; Basic leucine zipper proteins 9606.ENSP00000061240 TLL1 1013 Tolloid-like protein 1; Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis; Astacins 9606.ENSP00000062104 NNAT 81 Neuronatin; May participate in the maintenance of segment identity in the hindbrain and pituitary development, and maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of ion channels 9606.ENSP00000064571 CBLN4 201 Cerebellin-4; May be involved in synaptic functions in the CNS. May play a role in CBLN3 export from the endoplasmic reticulum and secretion (By similarity) 9606.ENSP00000064724 CLDN11 207 Claudin-11; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000064778 FAM168A 244 Protein FAM168A; In cancer context, protects cells from induced-DNA damage and apoptosis. Acts, at least in part, through PI3K/AKT/NFKB signaling pathway and by preventing POLB degradation. Decreases POLB ubiquitation and stabilizes its protein levels 9606.ENSP00000064780 RELT 430 Tumor necrosis factor receptor superfamily member 19L; Mediates activation of NF-kappa-B. May play a role in T- cell activation; RELT family 9606.ENSP00000070846 PKP2 881 Plakophilin-2; May play a role in junctional plaques; Armadillo repeat containing 9606.ENSP00000072644 YIPF1 306 Protein YIPF1; Yip1 domain family member 1; Belongs to the YIP1 family 9606.ENSP00000072869 ADCK2 626 Uncharacterized aarF domain-containing protein kinase 2; The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) 9606.ENSP00000074304 INPP4A 977 Type I inositol 3,4-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4- trisphosphate and inositol 3,4-bisphosphate 9606.ENSP00000075120 SLC2A3 496 Solute carrier family 2, facilitated glucose transporter member 3; Facilitative glucose transporter that can also mediate the uptake of various other monosaccharides across the cell membrane. Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate. Does not mediate fructose transport; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily 9606.ENSP00000075503 STYK1 422 Tyrosine-protein kinase STYK1; Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways (By similarity) 9606.ENSP00000078429 GNA11 359 Guanine nucleotide-binding protein subunit alpha-11; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C; G protein subunits alpha, group q 9606.ENSP00000078445 CREB3L3 461 Cyclic AMP-responsive element-binding protein 3-like protein 3; Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression; Basic leucine [...] 9606.ENSP00000080059 HDAC7 991 Histone deacetylase 7; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer factors such as MEF2A, MEF2B and MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression [...] 9606.ENSP00000081029 MRPS35 323 Mitochondrial ribosomal protein S35 9606.ENSP00000083182 APPBP2 585 Amyloid protein-binding protein 2; May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface 9606.ENSP00000084798 CA11 328 Carbonic anhydrase-related protein 11; Does not have a catalytic activity; Carbonic anhydrases 9606.ENSP00000085068 ISOC2 221 Isochorismatase domain containing 2 9606.ENSP00000085219 CD22 847 B-cell receptor CD22; Mediates B-cell B-cell interactions. May be involved in the localization of B-cells in lymphoid tissues. Binds sialylated glycoproteins; one of which is CD45. Preferentially binds to alpha-2,6-linked sialic acid. The sialic acid recognition site can be masked by cis interactions with sialic acids on the same cell surface. Upon ligand induced tyrosine phosphorylation in the immune response seems to be involved in regulation of B-cell antigen receptor signaling. Plays a role in positive regulation through interaction with Src family tyrosine kinases and may also act [...] 9606.ENSP00000086933 GSC2 205 Homeobox protein goosecoid-2; May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC; Belongs to the paired homeobox family. Bicoid subfamily 9606.ENSP00000155840 KCNQ1 676 Potassium voltage-gated channel subfamily KQT member 1; Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity). Associates with KCNE beta subunits that modulates current kinetics (By similarity). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta- adrenergic receptor stimulation participates in cardiac [...] 9606.ENSP00000155858 TRPM5 1165 Transient receptor potential cation channel subfamily M member 5; Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent- specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). [...] 9606.ENSP00000155926 TRIB2 343 Tribbles homolog 2; Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily 9606.ENSP00000156084 OTUD5 571 OTU domain-containing protein 5; Deubiquitinating enzyme that functions as negative regulator of the innate immune system. Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production. Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Can also cleave 'Lys-11'- linked ubiquitin chains (in vitro) 9606.ENSP00000156109 GPKOW 476 G-patch domain and KOW motifs 9606.ENSP00000156471 AQR 1485 Intron-binding protein aquarius; Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing; Belongs to the CWF11 family 9606.ENSP00000156626 ST6GALNAC1 600 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; Sialyltransferases 9606.ENSP00000157600 LMCD1 365 LIM and cysteine-rich domains protein 1; Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue- specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway; LIM domain containing 9606.ENSP00000157812 PSMC4 418 26S proteasome regulatory subunit 6B; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC4 belongs to the heterohexameric ring of AAA (ATPases associated wit [...] 9606.ENSP00000158009 FNDC8 324 Fibronectin type III domain containing 8 9606.ENSP00000158166 CAMKK1 520 Calcium/calmodulin-dependent protein kinase kinase 1; Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2-antagonist of cell death 9606.ENSP00000158762 ACAP1 740 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1; GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration; Ankyrin repeat domain containing 9606.ENSP00000158771 DERL2 239 Derlin-2; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins. May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the [...] 9606.ENSP00000159060 NOX3 568 NADPH oxidase 3; NADPH oxidase which constitutively produces superoxide upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity 9606.ENSP00000159087 ANO8 1232 Anoctamin-8; Does not exhibit calcium-activated chloride channel (CaCC) activity; Anoctamins 9606.ENSP00000159111 KDM4B 1096 Lysine-specific demethylase 4B; Histone demethylase that specifically demethylates 'Lys- 9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Only able to demethylate trimethylated H3 'Lys-9', with a weaker activity than KDM4A, KDM4C and KDM4D. Demethylation of Lys residue generates formaldehyde and succinate; Lysine demethylases 9606.ENSP00000160262 ICAM3 547 Intercellular adhesion molecule 3; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha-L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages; CD molecules 9606.ENSP00000160373 CTTNBP2 1663 Cortactin-binding protein 2; Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance; Ankyrin repeat domain containing 9606.ENSP00000160382 ACTL6B 426 Actin-like protein 6B; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. [...] 9606.ENSP00000160827 KIF22 665 Kinesin-like protein KIF22; Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80- depleted cells; Kinesins 9606.ENSP00000161006 PRSS22 317 Brain-specific serine protease 4; Preferentially cleaves the synthetic substrate H-D-Leu- Thr-Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA; Serine proteases 9606.ENSP00000161559 CEACAM1 526 Carcinoembryonic antigen-related cell adhesion molecule 1; Isoform 1: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis. Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils. Upon [...] 9606.ENSP00000161863 YTHDC2 1430 Probable ATP-dependent RNA helicase YTHDC2; Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs affecting the translation efficiency and mRNA abundance of its targets. Is required for proper spermatocyte development (By similarity). M6A is a modification present at internal sites of mRNAs and some non- coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. When associated with MEIOC, binds transcripts that regulate the mitotic cell cycle inhibiting progression into metaphase, thereby allowing meiotic prophase to proceed normall [...] 9606.ENSP00000162044 TMEM161A 479 Transmembrane protein 161A; May play a role in protection against oxidative stress. Overexpression leads to reduced levels of oxidant-induced DNA damage and apoptosis; Belongs to the TMEM161 family 9606.ENSP00000162391 FOXJ2 574 Forkhead box protein J2; Transcriptional activator. Able to bind to two different type of DNA binding sites. Isoform FOXJ2.L behaves as a more potent transactivator than FOXJ2.S; Forkhead boxes 9606.ENSP00000162749 TNFRSF1A 455 Tumor necrosis factor receptor superfamily member 1A; Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate- specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase; CD molecules 9606.ENSP00000163416 GOLGA5 731 Golgin subfamily A member 5; Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport 9606.ENSP00000164024 CELSR3 3312 Cadherin EGF LAG seven-pass G-type receptor 3; Receptor that may have an important role in cell/cell signaling during nervous system formation; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily 9606.ENSP00000164133 PPP2R5B 497 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform; As the regulatory component of the serine/threonine- protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation 9606.ENSP00000164139 PYGM 842 Glycogen phosphorylase, muscle form; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties 9606.ENSP00000164227 BCL3 454 B-cell lymphoma 3 protein; Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity); Ankyrin repeat domain containing 9606.ENSP00000164305 PIGB 554 GPI mannosyltransferase 3; Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly; Dolichyl D-mannosyl phosphate dependent mannosyltransferases 9606.ENSP00000164640 PDZD4 769 PDZ domain containing 4 9606.ENSP00000165524 PRLH 87 Prolactin-releasing peptide; Stimulates prolactin (PRL) release and regulates the expression of prolactin through its receptor GPR10. May stimulate lactotrophs directly to secrete PRL; Endogenous ligands 9606.ENSP00000166139 FSTL3 263 Follistatin-related protein 3; Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow st [...] 9606.ENSP00000166244 EPHA8 1005 Ephrin type-A receptor 8; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin sub [...] 9606.ENSP00000166345 TRIP13 432 Pachytene checkpoint protein 2 homolog; Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for [...] 9606.ENSP00000167106 VASH1 365 Vasohibin-1; Angiogenesis inhibitor. Inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis. This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts. Does not affect the proliferation of cancer cells in vitro, but inhibits tumor growth and tumor angiogenesis. Acts in an autocrine manner. Inhibits artery neointimal formation and macrophage infiltration. Exhibits heparin-binding activity 9606.ENSP00000167586 KRT14 472 Keratin, type I cytoskeletal 14; The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro 9606.ENSP00000167588 KRT20 424 Keratin, type I cytoskeletal 20; Plays a significant role in maintaining keratin filament organization in intestinal epithelia. When phosphorylated, plays a role in the secretion of mucin in the small intestine (By similarity); Keratins, type I 9606.ENSP00000168148 SPP2 211 Secreted phosphoprotein 24; Could coordinate an aspect of bone turnover 9606.ENSP00000168216 HSD17B10 261 3-hydroxyacyl-CoA dehydrogenase type-2; Mitochondrial dehydrogenase that catalyzes the beta- oxidation at position 17 of androgens and estrogens and has 3- alpha-hydroxysteroid dehydrogenase activity with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta- OH and 21-OH dehydrogenase activities with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). Essential for structur [...] 9606.ENSP00000168712 FGF4 206 Fibroblast growth factor 4; Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis; Belongs to the heparin-binding growth factors family 9606.ENSP00000169298 ST6GAL1 406 Beta-galactoside alpha-2,6-sialyltransferase 1; Transfers sialic acid from CMP-sialic acid to galactose- containing acceptor substrates; Sialyltransferases 9606.ENSP00000169551 TIMM21 248 Mitochondrial import inner membrane translocase subunit Tim21; Participates in the translocation of transit peptide- containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes; Be [...] 9606.ENSP00000170150 BPIFB2 458 BPI fold containing family B member 2; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family 9606.ENSP00000170168 REXO1 1221 RNA exonuclease 1 homolog; Seems to have no detectable effect on transcription elongation in vitro; Belongs to the REXO1/REXO3 family 9606.ENSP00000170447 MKRN2 416 Probable E3 ubiquitin-protein ligase makorin-2; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins; Ring finger proteins 9606.ENSP00000170564 GPATCH1 931 G-patch domain containing 1; Belongs to the GPATCH1 family 9606.ENSP00000171111 KEAP1 624 Kelch-like ECH-associated protein 1; Acts as a substrate adapter protein for the E3 ubiquitin ligase complex formed by CUL3 and RBX1 and targets NFE2L2/NRF2 for ubiquitination and degradation by the proteasome, thus resulting in the suppression of its transcriptional activity and the repression of antioxidant response element-mediated detoxifying enzyme gene expression. Retains NFE2L2/NRF2 and may also retain BPTF in the cytosol. Targets PGAM5 for ubiquitination and degradation by the proteasome; BTB domain containing 9606.ENSP00000171757 P2RY10 339 Putative P2Y purinoceptor 10; Putative receptor for purines coupled to G-proteins 9606.ENSP00000171887 TNS1 1735 Tensin-1; Involved in fibrillar adhesion formation. May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton; C2 tensin-type domain containing 9606.ENSP00000172229 NGFR 427 Tumor necrosis factor receptor superfamily member 16; Plays a role in the regulation of the translocation of GLUT4 to the cell surface in adipocytes and skeletal muscle cells in response to insulin, probably by regulating RAB31 activity, and thereby contributes to the regulation of insulin-dependent glucose uptake (By similarity). Low affinity receptor which can bind to NGF, BDNF, NT-3, and NT-4. Can mediate cell survival as well as cell death of neural cells. Necessary for the circadian oscillation of the clock genes ARNTL/BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SC [...] 9606.ENSP00000173229 NTN1 604 Netrin-1; Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. It also serve as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis 9606.ENSP00000173527 ISOC1 298 Isochorismatase domain containing 1 9606.ENSP00000173898 TRO 1431 Trophinin; Could be involved with bystin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. Directly responsible for homophilic cell adhesion; MAGE family 9606.ENSP00000174618 MNT 582 Max-binding protein MNT; Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5'-CACGTG-3' and, with higher affinity, to 5'-CACGCG-3'; Basic helix-loop-helix proteins 9606.ENSP00000175091 LAPTM4A 233 Lysosomal-associated transmembrane protein 4A; May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment 9606.ENSP00000175238 ADAM7 754 Disintegrin and metalloproteinase domain-containing protein 7; May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity); ADAM metallopeptidase domain containing 9606.ENSP00000175506 ASNS 561 Asparagine synthetase 9606.ENSP00000175756 PTPN18 460 Tyrosine-protein phosphatase non-receptor type 18; Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues; Protein tyrosine phosphatases, non-receptor type 9606.ENSP00000176183 DRD4 419 Dopamine receptor D4; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000176195 SCT 121 Secretin; Stimulates formation of NaHCO(3)-rich pancreatic juice and secretion of NaHCO(3)-rich bile and inhibits HCl production by the stomach; Endogenous ligands 9606.ENSP00000176763 STK10 968 Serine/threonine-protein kinase 10; Serine/threonine-protein kinase involved in regulation of lymphocyte migration. Phosphorylates MSN, and possibly PLK1. Involved in regulation of lymphocyte migration by mediating phosphorylation of ERM proteins such as MSN. Acts as a negative regulator of MAP3K1/MEKK1. May also act as a cell cycle regulator by acting as a polo kinase kinase: mediates phosphorylation of PLK1 in vitro; however such data require additional evidences in vivo; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily 9606.ENSP00000177694 TBX21 535 T-box transcription factor TBX21; Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs. Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN-gamma and the chemokine receptor CXCR3. Activates IFNG and CXCR3 genes in part by recruiting chromatin remodeling complexes including KDM6B, a SMARCA4- containing SWI/SNF-complex, and an H3K4me2-methyltransferase complex to their promoters and [...] 9606.ENSP00000177742 MRPS34 225 28S ribosomal protein S34, mitochondrial; Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation 9606.ENSP00000178638 CA12 354 Carbonic anhydrase 12; Reversible hydration of carbon dioxide; Belongs to the alpha-carbonic anhydrase family 9606.ENSP00000178640 MAP2K5 448 Dual specificity mitogen-activated protein kinase kinase 5; Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apoptosis, neuronal survival and cardiac development and angiogenesis; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily 9606.ENSP00000179259 C12orf5 270 Fructose-2,6-bisphosphatase TIGAR; Fructose-bisphosphatase hydrolyzing fructose-2,6- bisphosphate as well as fructose-1,6-bisphosphate. Acts as a negative regulator of glycolysis by lowering intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway (PPP) activation and NADPH production. Contributes to the generation of reduced glutathione to cause a decrease in intracellular reactive oxygen species (ROS) content, correlating with its ability to protect cells from oxidative or metabolic stress-induced cell death. Plays a [...] 9606.ENSP00000180166 FGF20 211 Fibroblast growth factor 20; Neurotrophic factor that regulates central nervous development and function 9606.ENSP00000180173 MTMR7 660 Myotubularin-related protein 7; Phosphatase that acts on lipids with a phosphoinositol headgroup; Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily 9606.ENSP00000181383 CPB2 423 Carboxypeptidase B2; Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down- regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin; Belongs to the peptidase M14 family 9606.ENSP00000181796 FAM107B 306 Protein FAM107B; Family with sequence similarity 107 member B 9606.ENSP00000181839 CDK13 1512 Cyclin-dependent kinase 13; Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys- 51', thereby increasing HIV-1 mRNA splicing and promoting the pro [...] 9606.ENSP00000182290 TSPAN32 320 Tetraspanin-32; Tetraspanin 32; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000182527 TRAM2 370 Translocating chain-associated membrane protein 2; Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Required for proper insertion of the first transmembrane helix N-terminus of TM4SF20 into the ER lumen, may act as a ceramide sensor for regulated alternative translocation (RAT); TLC domain containing 9606.ENSP00000183605 CLDN18 261 Claudin-18; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Belongs to the claudin family 9606.ENSP00000184183 ROPN1 212 Ropporin-1A; Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation; Belongs to the ropporin family 9606.ENSP00000184266 NDUFB4 129 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000184956 HEATR6 1181 HEAT repeat-containing protein 6; Amplification-dependent oncogene; Armadillo-like helical domain containing 9606.ENSP00000185150 ERLEC1 483 Endoplasmic reticulum lectin 1; Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins; MRH domain containing 9606.ENSP00000185206 CLIC5 410 Chloride intracellular channel protein 5; Required for normal hearing. It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture 9606.ENSP00000186436 TMEM131 1883 Transmembrane protein 131; May play a role in the immune response to viral infection 9606.ENSP00000187762 TMEM38A 299 Trimeric intracellular cation channel type A; Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores 9606.ENSP00000188312 ACTR6 396 ARP6 actin related protein 6 homolog; Belongs to the actin family. ARP6 subfamily 9606.ENSP00000188790 FAP 760 Prolyl endopeptidase FAP; Cell surface glycoprotein serine protease that participates in extracellular matrix degradation and involved in many cellular processes including tissue remodeling, fibrosis, wound healing, inflammation and tumor growth. Both plasma membrane and soluble forms exhibit post-proline cleaving endopeptidase activity, with a marked preference for Ala/Ser-Gly-Pro-Ser/Asn/Ala consensus sequences, on substrate such as alpha-2-antiplasmin SERPINF2 and SPRY2. Degrade also gelatin, heat-denatured type I collagen, but not native collagen type I and IV, vibronectin, tenasci [...] 9606.ENSP00000190165 DMRT3 472 Doublesex- and mab-3-related transcription factor 3; Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity); Belongs to the DMRT family 9606.ENSP00000192314 GAL3ST2 398 Galactose-3-O-sulfotransferase 2; Transfers a sulfate group to the hydroxyl group at C3 of non-reducing beta-galactosyl residues. Acts both on type 1 (Gal- beta-1,3-GlcNAc) and type 2 (Gal-beta-1,4-GlcNAc) chains with similar efficiency; Sulfotransferases, membrane bound 9606.ENSP00000192788 UHRF1BP1 1440 UHRF1-binding protein 1; May act as a negative regulator of cell growth 9606.ENSP00000193322 OSTM1 334 Osteopetrosis-associated transmembrane protein 1; Required for osteoclast and melanocyte maturation and function 9606.ENSP00000193391 IMPG2 1241 Interphotoreceptor matrix proteoglycan 2; Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light- sensitive photoreceptor outer segment. Binds heparin 9606.ENSP00000194130 SLC13A1 595 Solute carrier family 13 member 1; Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney; Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily 9606.ENSP00000194152 PCDHB4 795 Protocadherin beta-4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000194155 PCDHB2 798 Protocadherin beta-2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000194214 HSPB11 144 Intraflagellar transport protein 25 homolog; Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly (By similarity); Intraflagellar transport proteins 9606.ENSP00000194530 STRADB 418 STE20-related kinase adapter protein beta; Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity) 9606.ENSP00000195455 C4orf6 93 Uncharacterized protein encoded by LINC01587; Chromosome 4 open reading frame 6 9606.ENSP00000196061 PLOD1 727 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable) 9606.ENSP00000196371 OXCT1 520 Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate; Belongs to the 3-oxoacid CoA-transferase family 9606.ENSP00000196489 ZNF416 594 Zinc finger protein 416; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000197268 KIAA1467 622 Protein FAM234B; KIAA1467 9606.ENSP00000198536 PILRA 303 Paired immunoglobulin-like type 2 receptor alpha; Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP; V-set domain containing 9606.ENSP00000198767 RRN3 651 RNA polymerase I-specific transcription initiation factor RRN3; Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity); Armadillo-like helical domain containing 9606.ENSP00000198801 MOGAT2 334 2-acylglycerol O-acyltransferase 2; Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0. Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. May play a role in diet-induced obesity 9606.ENSP00000199280 AQP2 271 Aquaporin-2; Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient; Aquaporins 9606.ENSP00000199320 DIMT1 313 Probable dimethyladenosine transferase; Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000199389 EIF2AK1 630 Eukaryotic translation initiation factor 2-alpha kinase 1; Inhibits protein synthesis at the translation initiation level, in response to various stress conditions, including oxidative stress, heme deficiency, osmotic shock and heat shock. Exerts its function through the phosphorylation of EIF2S1 at 'Ser- 48' and 'Ser-51', thus preventing its recycling. Binds hemin forming a 1:1 complex through a cysteine thiolate and histidine nitrogenous coordination. This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell. Thanks to this unique heme-se [...] 9606.ENSP00000199447 NME8 588 Thioredoxin domain-containing protein 3; Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds; NME/NM23 family 9606.ENSP00000199448 EPDR1 224 Mammalian ependymin-related protein 1; Ependymin related 1 9606.ENSP00000199706 MRPL28 256 Mitochondrial ribosomal protein L28 9606.ENSP00000199708 HBQ1 142 Hemoglobin subunit theta 1 9606.ENSP00000199764 CEACAM6 344 Carcinoembryonic antigen related cell adhesion molecule family; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000199814 RBM22 420 Pre-mRNA-splicing factor RBM22; Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5' splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses; Belongs to the SLT11 family 9606.ENSP00000199936 HSD17B2 387 Estradiol 17-beta-dehydrogenase 2; Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000200135 ZW10 779 Centromere/kinetochore protein zw10 homolog; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex. Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assemb [...] 9606.ENSP00000200181 ITGB4 1822 Integrin beta-4; Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling 9606.ENSP00000200453 PPP1R15A 674 Protein phosphatase 1 regulatory subunit 15A; Recruits the serine/threonine-protein phosphatase PP1 to dephosphorylate the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress. Down-regulates the TGF-beta signaling pathway by promoting dephosphorylation of TGFB1 by PP1. May promote apoptosis by inducing TP53 phosphorylation on 'Ser-15' 9606.ENSP00000200457 TRIP6 476 Thyroid receptor-interacting protein 6; Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF-kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor; Belongs to the zyxin/ajuba family 9606.ENSP00000200557 ADAM11 769 Disintegrin and metalloproteinase domain-containing protein 11; Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein; ADAM metallopeptidase domain containing 9606.ENSP00000200652 SLC22A4 551 Solute carrier family 22 member 4; Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET); Deafness associated genes 9606.ENSP00000200676 CETP 493 Cholesteryl ester transfer protein; Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL. Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family 9606.ENSP00000200691 MT3 68 Metallothionein-3; Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro; Metallothioneins 9606.ENSP00000201031 TFAP2C 450 Transcription factor AP-2 gamma; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer 9606.ENSP00000201586 SULT2B1 365 Sulfotransferase family cytosolic 2B member 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. Plays a role in epidermal choleste [...] 9606.ENSP00000201647 EPS8L1 723 Epidermal growth factor receptor kinase substrate 8-like protein 1; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton; Belongs to the EPS8 family 9606.ENSP00000201979 REM1 298 GTP-binding protein REM 1; Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling; RGK type GTPase family 9606.ENSP00000202017 PDRG1 133 P53 and DNA damage-regulated protein 1; May play a role in chaperone-mediated protein folding; Belongs to the prefoldin subunit beta family 9606.ENSP00000202556 PPP1R13B 1090 Apoptosis-stimulating of p53 protein 1; Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo; Ankyrin repeat domain containing 9606.ENSP00000202625 TGM6 706 Protein-glutamine gamma-glutamyltransferase 6; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins; Belongs to the transglutaminase superfamily. Transglutaminase family 9606.ENSP00000202677 RALGAPA2 1873 Ral GTPase-activating protein subunit alpha-2; Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB; Armadillo-like helical domain containing 9606.ENSP00000202816 ESF1 851 ESF1 homolog; May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity) 9606.ENSP00000202967 SIRT4 314 NAD-dependent protein lipoamidase sirtuin-4, mitochondrial; Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner. Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitoch [...] 9606.ENSP00000203001 TRMT6 497 tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6; Substrate-binding subunit of tRNA (adenine-N(1)-)- methyltransferase, which catalyzes the formation of N(1)- methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. Together with the TRMT61A catalytic subunit, part of a mRNA N(1)-methyltransferase complex that mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries 9606.ENSP00000203407 UQCRC1 480 Cytochrome b-c1 complex subunit 1, mitochondrial; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1; M16 metallopeptidases 9606.ENSP00000203556 GMIP 970 GEM-interacting protein; Stimulates, in vitro and in vivo, the GTPase activity of RhoA 9606.ENSP00000203629 LAG3 525 Lymphocyte activation gene 3 protein; Involved in lymphocyte activation. Binds to HLA class-II antigens; CD molecules 9606.ENSP00000203630 MLF2 248 Myeloid leukemia factor 2 9606.ENSP00000203664 OTUB2 234 Ubiquitin thioesterase OTUB2; Hydrolase that can remove conjugated ubiquitin from proteins in vitro and may therefore play an important regulatory role at the level of protein turnover by preventing degradation. Mediates deubiquitination of 'Lys-11'-,'Lys-48'- and 'Lys-63'- linked polyubiquitin chains, with a preference for 'Lys-63'-linked polyubiquitin chains; Belongs to the peptidase C65 family 9606.ENSP00000204517 TFAP4 338 Transcription factor AP-4; Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'- CAGCTG-3'; Basic helix-loop-helix proteins 9606.ENSP00000204549 PDCD7 485 Programmed cell death protein 7; Promotes apoptosis when overexpressed; U11/U12 di-snRNP 9606.ENSP00000204566 SPG21 308 Maspardin; May play a role as a negative regulatory factor in CD4- dependent T-cell activation 9606.ENSP00000204604 CHRD 955 Chordin; Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity) 9606.ENSP00000204615 THPO 353 Thrombopoietin; Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets; Endogenous ligands 9606.ENSP00000204679 GNPTG 305 N-acetylglucosamine-1-phosphotransferase subunit gamma; Non-catalytic subunit of the N-acetylglucosamine-1- phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine- 1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors; MRH domain containing 9606.ENSP00000204726 GOLGA3 1498 Golgin subfamily A member 3; Golgi auto-antigen; probably involved in maintaining Golgi structure 9606.ENSP00000204961 EFNB1 346 Ephrin-B1; Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity); Ephrins 9606.ENSP00000205061 GLG1 1203 Golgi apparatus protein 1; Binds fibroblast growth factor and E-selectin (cell- adhesion lectin on endothelial cells mediating the binding of neutrophils) 9606.ENSP00000205143 DLL3 618 Delta-like protein 3; Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity) 9606.ENSP00000205194 NAT14 206 N-acetyltransferase 14; Probable acetyltransferase that binds the 5'-GGACTACAG- 3' sequence of coproporphyrinogen oxidase promoter. Able to activate transcription of a reporter construct in vitro; GCN5 related N-acetyltransferases 9606.ENSP00000205214 AASDH 1098 Acyl-CoA synthetase family member 4; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA; Acyl-CoA synthetase family 9606.ENSP00000205402 DLD 509 Dihydrolipoyl dehydrogenase, mitochondrial; Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex). In monomeric form has additional moonlighting function as serine protease. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity) 9606.ENSP00000205557 ABCC6 1503 Multidrug resistance-associated protein 6; Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS); ATP binding cassette subfamily C 9606.ENSP00000205636 CMTM6 183 CKLF like MARVEL transmembrane domain containing 6; Belongs to the chemokine-like factor family 9606.ENSP00000205890 MYO15A 3530 Unconventional myosin-XV; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000205948 APOH 345 Beta-2-glycoprotein 1; Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells; Apolipoproteins 9606.ENSP00000206020 SPAG7 227 Sperm associated antigen 7 9606.ENSP00000206423 CCDC80 950 Coiled-coil domain-containing protein 80; Promotes cell adhesion and matrix assembly 9606.ENSP00000206474 HAUS4 363 HAUS augmin-like complex subunit 4; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex 9606.ENSP00000206513 CEBPE 281 CCAAT/enhancer-binding protein epsilon; Transcriptional activator. C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte- myelocyte transition in myeloid differentiation; Belongs to the bZIP family. C/EBP subfamily 9606.ENSP00000206542 OSGEP 335 Probable tRNA N6-adenosine threonylcarbamoyltransferase; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity; Belongs to the KAE1 / TsaD family 9606.ENSP00000206595 G2E3 706 G2/M phase-specific E3 ubiquitin-protein ligase; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death; PHD finger proteins 9606.ENSP00000206765 TGM1 817 Protein-glutamine gamma-glutamyltransferase K; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross- linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation; Belongs to the transglutaminase superfamily. Transglutaminase family 9606.ENSP00000207157 TBX15 496 T-box transcription factor TBX15; Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity); T-boxes 9606.ENSP00000207457 TEKT2 430 Tektin-2; Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules; Tektins 9606.ENSP00000207549 UNC13D 1090 Protein unc-13 homolog D; Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells; UNC13 homologs 9606.ENSP00000207870 XYLB 536 Xylulose kinase; Phosphorylates D-xylulose to produce D-xylulose 5- phosphate, a molecule that may play an important role in the regulation of glucose metabolism and lipogenesis 9606.ENSP00000209540 OR1I1 355 Olfactory receptor 1I1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000209668 ADH1A 375 Alcohol dehydrogenase 1A, alpha polypeptide; Belongs to the zinc-containing alcohol dehydrogenase family 9606.ENSP00000209718 KRT23 422 Keratin, type I cytoskeletal 23; Keratins, type I 9606.ENSP00000209728 CDC6 560 Cell division control protein 6 homolog; Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated 9606.ENSP00000209873 AAAS 546 Aladin; Plays a role in the normal development of the peripheral and central nervous system; Nucleoporins 9606.ENSP00000209875 CBX5 191 Chromobox protein homolog 5; Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins; Chromobox family 9606.ENSP00000209884 KLHL20 609 Kelch-like protein 20; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis. The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'- linked ubiquitination. Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting int [...] 9606.ENSP00000209929 FMO2 472 Dimethylaniline monooxygenase [N-oxide-forming] 2; Catalyzes the N-oxidation of certain primary alkylamines to their oximes via an N-hydroxylamine intermediate. Inactive toward certain tertiary amines, such as imipramine or chloropromazine. Can catalyze the S-oxidation of methimazole. The truncated form is catalytically inactive 9606.ENSP00000210060 DHPS 369 Deoxyhypusine synthase; Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue 9606.ENSP00000210187 RAB26 256 Ras-related protein Rab-26; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Mediates transport of ADRA2A and ADRA2B from the Golgi to the cell membrane. Plays a role in the maturation of zymogenic granules and in pepsinogen secretion in the stomach. Plays a rol [...] 9606.ENSP00000210313 PSMD5 504 26S proteasome non-ATPase regulatory subunit 5; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD5:PSMC2:PSMC1:PSMD2 module which probably assembles with a PSMD10:PSMC4:PSMC5:PAAF1 module followed by dissociation of PSMD5; Armadillo-like helical domain containing 9606.ENSP00000210444 NANS 359 Sialic acid synthase; Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3- deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N- acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively 9606.ENSP00000210633 SEMA4G 843 Semaphorin-4G; Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity); Immunoglobulin like domain containing 9606.ENSP00000211076 TPSD1 242 Tryptase delta; Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type; Belongs to the peptidase S1 family. Tryptase subfamily 9606.ENSP00000211122 GSTA3 222 Glutathione S-transferase A3; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)- pregnene-3,20-dione, precursors to testosterone and progesterone, respectively; Soluble glutathione S-transferases 9606.ENSP00000211287 MAPK13 365 Mitogen-activated protein kinase 13; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studie [...] 9606.ENSP00000211314 TMEM14A 99 Transmembrane protein 14A; Inhibits apoptosis via negative regulation of the mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; Belongs to the TMEM14 family 9606.ENSP00000211413 PRRT1 306 Interferon induced transmembrane protein domain containing; Belongs to the CD225/Dispanin family 9606.ENSP00000211936 ZNF184 751 Zinc finger protein 184; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000211998 VCL 1134 Vinculin; Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell- surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion; Belongs to the vinculin/alpha-catenin family 9606.ENSP00000212015 SIRT1 747 NAD-dependent protein deacetylase sirtuin-1; NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metobolism, apoptosis and autophagy. Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression. Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expres [...] 9606.ENSP00000212355 TGFBR3 851 Transforming growth factor beta receptor type 3; Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors; Proteoglycans 9606.ENSP00000214869 TMED1 227 Transmembrane emp24 domain-containing protein 1; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side; Transmembrane p24 trafficking proteins 9606.ENSP00000215057 MZF1 734 Myeloid zinc finger 1; Binds to target promoter DNA and functions as transcription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000215061 OCEL1 264 occludin/ELL domain containing 1; Belongs to the ELL/occludin family 9606.ENSP00000215071 PSMD8 350 26S proteasome non-ATPase regulatory subunit 8; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair 9606.ENSP00000215095 STX1B 288 Syntaxin-1B; Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity); Belongs to the syntaxin family 9606.ENSP00000215368 EFNA2 213 Ephrin-A2; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling thro [...] 9606.ENSP00000215375 ATP5D 168 ATP synthase subunit delta, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the c [...] 9606.ENSP00000215530 FGF22 170 Fibroblast growth factor 22; Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development 9606.ENSP00000215531 SMIM24 130 Small integral membrane protein 24 9606.ENSP00000215565 NDUFB7 137 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000215567 TECR 308 Very-long-chain enoyl-CoA reductase; Catalyzes the last of the four reactions of the long- chain fatty acids elongation cycle. This endoplasmic reticulum- bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membran [...] 9606.ENSP00000215570 TIMM13 95 Mitochondrial import inner membrane translocase subunit Tim13; Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins s [...] 9606.ENSP00000215574 CDC34 236 Ubiquitin-conjugating enzyme E2 R1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-linked polyubiquitination. Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Cooper [...] 9606.ENSP00000215582 MISP 679 Mitotic interactor and substrate of PLK1; Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus; Belongs to the MISP family 9606.ENSP00000215631 GADD45B 160 Growth arrest and DNA damage-inducible protein GADD45 beta; Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK 9606.ENSP00000215637 MADCAM1 382 Mucosal addressin cell adhesion molecule 1; Cell adhesion leukocyte receptor expressed by mucosal venules, helps to direct lymphocyte traffic into mucosal tissues including the Peyer patches and the intestinal lamina propria. It can bind both integrin alpha-4/beta-7 and L-selectin, regulating both the passage and retention of leukocytes. Isoform 2, lacking the mucin-like domain, may be specialized in supporting integrin alpha-4/beta-7-dependent adhesion strengthening, independent of L- selectin binding; Ig-like cell adhesion molecule family 9606.ENSP00000215659 MAPK12 367 Mitogen-activated protein kinase 12; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstre [...] 9606.ENSP00000215727 SERPIND1 499 Heparin cofactor 2; Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner; Belongs to the serpin family 9606.ENSP00000215730 SNAP29 258 Synaptosomal-associated protein 29; SNAREs, soluble N-ethylmaleimide-sensitive factor- attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Plays also a role in ciliogenesis by regulating membrane fusions; Belongs to the SNAP-25 family 9606.ENSP00000215739 LZTR1 840 Leucine-zipper-like transcriptional regulator 1; Probable transcriptional regulator that may play a crucial role in embryogenesis; BTB domain containing 9606.ENSP00000215742 THAP7 309 THAP domain-containing protein 7; Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressors; THAP domain containing 9606.ENSP00000215743 MMP11 488 Stromelysin-3; May play an important role in the progression of epithelial malignancies; M10 matrix metallopeptidases 9606.ENSP00000215754 MIF 115 Macrophage migration inhibitory factor; Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti- inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity 9606.ENSP00000215770 DDTL 134 D-dopachrome decarboxylase-like protein; May have lyase activity 9606.ENSP00000215781 OSM 252 Oncostatin-M; Growth regulator. Inhibits the proliferation of a number of tumor cell lines. Stimulates proliferation of AIDS-KS cells. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. Uses both type I OSM receptor (heterodimers composed of LIPR and IL6ST) and type II OSM receptor (heterodimers composed of OSMR and IL6ST). Involved in the maturation of fetal hepatocytes, thereby promoting liver development and regeneration (By similarity) 9606.ENSP00000215793 SF3A1 793 Splicing factor 3A subunit 1; Subunit of the splicing factor SF3A required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex; U2 small nucleolar ribonucleoprotein 9606.ENSP00000215794 USP18 372 Ubl carboxyl-terminal hydrolase 18; Involved in the regulation of inflammatory response to interferon type 1. Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms; Ubiquitin specific peptidases 9606.ENSP00000215812 SEC14L3 400 SEC14-like protein 3; Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids; SEC14 family 9606.ENSP00000215829 SNRPD3 126 Small nuclear ribonucleoprotein Sm D3; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3'-end processing 9606.ENSP00000215832 MAPK1 360 Mitogen-activated protein kinase 1; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] 9606.ENSP00000215838 TCN2 427 Transcobalamin-2; Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells; Belongs to the eukaryotic cobalamin transport proteins family 9606.ENSP00000215855 CRYBB3 211 Beta-crystallin B3; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family 9606.ENSP00000215862 MORC2 970 MORC family CW-type zinc finger protein 2; Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation. May act as a transcriptional repressor. Down-regulates CA9 expression; Zinc fingers CW-type 9606.ENSP00000215882 SLC25A1 311 Tricarboxylate transport protein, mitochondrial; Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway; Solute carriers 9606.ENSP00000215885 PLA2G3 509 Group 3 secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl- phosphatidylethanolamine (PE) > 1-palmitoyl-2-linoleoyl-PC > 1- palmitoyl-2-arachidonoyl-PC > 1-palmitoyl-2-arachidonoyl-PE. Plays a role in ciliogenesis; Phospholipases 9606.ENSP00000215886 LGALS2 132 Galectin-2; This protein binds beta-galactoside. Its physiological function is not yet known; Galectins 9606.ENSP00000215904 PDXP 296 Pyridoxal phosphate phosphatase; Protein serine phosphatase that dephosphorylates 'Ser-3' in cofilin and probably also dephosphorylates phospho-serine residues in DSTN. Regulates cofilin-dependent actin cytoskeleton reorganization. Required for normal progress through mitosis and normal cytokinesis. Does not dephosphorylate phospho-threonines in LIMK1. Does not dephosphorylate peptides containing phospho- tyrosine. Pyridoxal phosphate (PLP) phosphatase, which also catalyzes the dephosphorylation of pyridoxine 5'- phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), with order of substr [...] 9606.ENSP00000215906 ASPHD2 369 Aspartate beta-hydroxylase domain-containing protein 2; May function as 2-oxoglutarate-dependent dioxygenase 9606.ENSP00000215909 LGALS1 135 Galectin-1; Lectin that binds beta-galactoside and a wide array of complex carbohydrates. Plays a role in regulating apoptosis, cell proliferation and cell differentiation. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase. Strong inducer of T-cell apoptosis; Endogenous ligands 9606.ENSP00000215912 PIK3IP1 263 Phosphoinositide-3-kinase-interacting protein 1; Negative regulator of hepatic phosphatidylinositol 3- kinase (PI3K) activity 9606.ENSP00000215917 SRRD 339 SRR1-like protein; May be involved in a circadian clock input pathway 9606.ENSP00000215939 CRYBB1 252 Beta-crystallin B1; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family 9606.ENSP00000215941 ANKRD54 300 Ankyrin repeat domain-containing protein 54; Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation; Ankyrin repeat domain containing 9606.ENSP00000215957 MICALL1 863 MICAL-like protein 1; Probable lipid-binding protein with higher affinity for phosphatidic acid, a lipid enriched in recycling endosome membranes. On endosome membranes, may act as a downstream effector of Rab proteins recruiting cytosolic proteins to regulate membrane tubulation. May be involved in a late step of receptor-mediated endocytosis regulating for instance endocytosed-EGF receptor trafficking. Alternatively, may regulate slow endocytic recycling of endocytosed proteins back to the plasma membrane. May indirectly play a role in neurite outgrowth; LIM domain containing 9606.ENSP00000215980 CENPM 180 Centromere protein M; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres 9606.ENSP00000216024 DMC1 340 Meiotic recombination protein DMC1/LIM15 homolog; May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks 9606.ENSP00000216027 HSCB 235 Iron-sulfur cluster co-chaperone protein HscB, mitochondrial; Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria; Belongs to the HscB family 9606.ENSP00000216034 TOMM22 142 Mitochondrial import receptor subunit TOM22 homolog; Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore; Belongs to the Tom22 family 9606.ENSP00000216036 RTDR1 348 Radial spoke head 14 homolog; Rhabdoid tumor deletion region gene 1; Belongs to the flagellar radial spoke RSP14 family 9606.ENSP00000216037 XBP1 261 X-box-binding protein 1; Functions as a transcription factor during endoplasmic reticulum (ER) stress by regulating the unfolded protein response (UPR). Required for cardiac myogenesis and hepatogenesis during embryonic development, and the development of secretory tissues such as exocrine pancreas and salivary gland (By similarity). Involved in terminal differentiation of B lymphocytes to plasma cells and production of immunoglobulins. Modulates the cellular response to ER stress in a PIK3R-dependent manner. Binds to the cis-acting X box present in the promoter regions of major histoc [...] 9606.ENSP00000216038 RTCB 505 tRNA-splicing ligase RtcB homolog; Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'- phosphodiester. May act as an RNA ligase with broad substrate specificity, and may function toward other RNAs 9606.ENSP00000216039 JOSD1 202 Josephin-1; Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves 'Lys-63'-linked and 'Lys-48'-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity; MJD deubiquinating enzymes 9606.ENSP00000216044 GTPBP1 669 GTP-binding protein 1; Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity) 9606.ENSP00000216068 DNAL4 105 Dynein light chain 4, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity); Dyneins, axonemal 9606.ENSP00000216071 C22orf31 290 Uncharacterized protein C22orf31; Chromosome 22 open reading frame 31 9606.ENSP00000216075 MIOX 285 Myo-inositol oxygenase 9606.ENSP00000216085 RHBDD3 386 Rhomboid domain containing 3 9606.ENSP00000216099 APOBEC3D 386 DNA dC->dU-editing enzyme APOBEC-3D; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels [...] 9606.ENSP00000216101 RASL10A 203 Ras-like protein family member 10A; Potent inhibitor of cellular proliferation; RAS type GTPase family 9606.ENSP00000216106 HMGXB4 601 HMG domain-containing protein 4; Negatively regulates Wnt/beta-catenin signaling during development; Non-canonical high mobility group 9606.ENSP00000216115 BIK 160 Bcl-2-interacting killer; Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX; BCL2 homology region 3 only 9606.ENSP00000216117 HMOX1 288 Heme oxygenase 1; Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Exhibits cytoprotective effects since excess of free heme sensitizes cells to undergo apoptosis 9606.ENSP00000216121 NIPSNAP1 284 Nipsnap homolog 1 9606.ENSP00000216122 MCM5 734 DNA replication licensing factor MCM5; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] 9606.ENSP00000216124 ARSA 509 Arylsulfatase A; Hydrolyzes cerebroside sulfate; Belongs to the sulfatase family 9606.ENSP00000216127 RASD2 266 GTP-binding protein Rhes; GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination; Belongs to the small GTPase superfamily. RasD family 9606.ENSP00000216129 TTLL12 644 Tubulin--tyrosine ligase-like protein 12; Tubulin tyrosine ligase like 12 9606.ENSP00000216133 CBX7 251 Chromobox protein homolog 7; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Promotes histone H3 trimethylation at 'Lys-9' (H3K9me3). Binds to trimethylated lysine residues in histones, and possibly also other proteins. Regulator of cellula [...] 9606.ENSP00000216139 ACR 421 Acrosin; Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome; Belongs to the peptidase S1 family 9606.ENSP00000216144 CABP7 215 Calcium-binding protein 7; Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity; EF-hand domain containing 9606.ENSP00000216160 TAB1 504 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1; May be an important signaling intermediate between TGFB receptors and MAP3K7/TAK1. May play an important role in mammalian embryogenesis 9606.ENSP00000216177 PNPLA5 429 Patatin-like phospholipase domain-containing protein 5; Lipid hydrolase; Patatin like phospholipase domain containing 9606.ENSP00000216180 PNPLA3 481 Patatin-like phospholipase domain-containing protein 3; Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities; Lipases 9606.ENSP00000216181 MYH9 1960 Myosin-9; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10; Deafness associated genes 9606.ENSP00000216185 TXN2 166 Thioredoxin, mitochondrial; Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity; Belongs to the thioredoxin family 9606.ENSP00000216190 EIF3D 548 Eukaryotic translation initiation factor 3 subunit D; mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required f [...] 9606.ENSP00000216200 PVALB 110 Parvalbumin alpha; In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions; EF-hand domain containing 9606.ENSP00000216211 UPK3A 287 Uroplakin-3a; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity) 9606.ENSP00000216214 FAM118A 357 Protein FAM118A; Family with sequence similarity 118 member A 9606.ENSP00000216218 ST13 369 Hsc70-interacting protein; One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity); Belongs to the FAM10 family 9606.ENSP00000216223 IL2RB 551 Interleukin-2 receptor subunit beta; Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2; Belongs to the type I cytokine receptor family. Type 4 subfamily 9606.ENSP00000216225 RBX1 108 E3 ubiquitin-protein ligase RBX1; E3 ubiquitin ligase component of multiple cullin-RING- based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription- coupled nucleotide excision repair. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets. The functional specificity of the E3 ubiquitin-protein li [...] 9606.ENSP00000216237 L3MBTL2 705 Lethal(3)malignant brain tumor-like protein 2; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27'; MBT domain containing 9606.ENSP00000216241 CHADL 762 Chondroadherin-like protein; Potential negative modulator of chondrocyte differentiation. Inhibits collagen fibrillogenesis in vitro. May influence chondrocyte's differentiation by acting on its cellular collagenous microenvironment; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily 9606.ENSP00000216252 PHF5A 110 PHD finger-like domain-containing protein 5A; Involved with the PAF1 complex (PAF1C) in transcriptional elongation by RNA polymerase II, and in regulation of development and maintenance of embryonic stem cell (ESC) pluripotency. Required for maintenance of ESCs self-renewal and cellular reprogramming of stem cells. Maintains pluripotency by recruiting and stabilizing PAF1C on pluripotency genes loci, and by regulating the expression of the pluripotency genes. Regulates the deposition of elongation-associated histone modifications, including dimethylated histone H3 'Lys-79' (H3K79me2) a [...] 9606.ENSP00000216254 ACO2 780 Aconitate hydratase, mitochondrial; Catalyzes the isomerization of citrate to isocitrate via cis-aconitate; Belongs to the aconitase/IPM isomerase family 9606.ENSP00000216259 PMM1 262 Phosphomannomutase 1; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain; Belongs to the eukaryotic PMM family 9606.ENSP00000216264 CERK 537 Ceramide kinase; Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Binds phosphoinositides 9606.ENSP00000216267 BRD1 1058 Bromodomain-containing protein 1; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity; Bromodomain containing 9606.ENSP00000216268 ZBED4 1171 Zinc finger BED-type containing 4 9606.ENSP00000216271 HDAC10 669 Histone deacetylase 10; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes 9606.ENSP00000216274 RIPK3 518 Receptor-interacting serine/threonine-protein kinase 3; Essential for necroptosis, a programmed cell death process in response to death-inducing TNF-alpha family members. Upon induction of necrosis, RIPK3 interacts with, and phosphorylates RIPK1 and MLKL to form a necrosis-inducing complex. RIPK3 binds to and enhances the activity of three metabolic enzymes: GLUL, GLUD1, and PYGL. These metabolic enzymes may eventually stimulate the tricarboxylic acid cycle and oxidative phosphorylation, which could result in enhanced ROS production 9606.ENSP00000216277 PAPOLA 745 Poly(A) polymerase alpha; Polymerase that creates the 3'-poly(A) tail of mRNA's. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus 9606.ENSP00000216286 NID2 1375 Nidogen-2; Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell-extracellular matrix interactions 9606.ENSP00000216294 SNAPC1 368 snRNA-activating protein complex subunit 1; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box 9606.ENSP00000216297 SUPT16H 1047 FACT complex subunit SPT16; Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment o [...] 9606.ENSP00000216330 FKBP3 224 Peptidyl-prolyl cis-trans isomerase FKBP3; FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins; FKBP prolyl isomerases 9606.ENSP00000216336 CTSG 255 Cathepsin G; Serine protease with trypsin- and chymotrypsin-like specificity. Cleaves complement C3. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, antibacterial activity is inhibited by LPS from P.aeruginosa, Z-Gly-Leu-Phe- CH2Cl and phenylmethylsulfonyl fluoride; Belongs to the peptidase S1 family 9606.ENSP00000216338 GZMH 246 Granzyme H; Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3' and P4' sites. Probably necessary for target cell lysis in cell-mediated immune responses. Participates in the antiviral response via direct cleavage of several proteins essential for viral replication 9606.ENSP00000216341 GZMB 247 Granzyme B; This enzyme is necessary for target cell lysis in cell- mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis; Belongs to the peptidase S1 family. Granzyme subfamily 9606.ENSP00000216366 AP4S1 159 AP-4 complex subunit sigma-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper a [...] 9606.ENSP00000216367 POLE2 527 DNA polymerase epsilon subunit 2; Participates in DNA repair and in chromosomal DNA replication 9606.ENSP00000216373 SOS2 1332 Son of sevenless homolog 2; Promotes the exchange of Ras-bound GDP by GTP; Pleckstrin homology domain containing 9606.ENSP00000216392 PYGL 847 Glycogen phosphorylase, liver form; Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties 9606.ENSP00000216410 GNPNAT1 184 Glucosamine-phosphate N-acetyltransferase 1; Belongs to the acetyltransferase family. GNA1 subfamily 9606.ENSP00000216416 CNIH1 144 Protein cornichon homolog 1; Involved in the selective transport and maturation of TGF-alpha family proteins; Belongs to the cornichon family 9606.ENSP00000216420 CGRRF1 332 Cell growth regulator with RING finger domain protein 1; Able to inhibit growth in several cell lines; Ring finger proteins 9606.ENSP00000216442 ATP6V1D 247 V-type proton ATPase subunit D; Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium 9606.ENSP00000216446 PLEK2 353 Pleckstrin-2; May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation; Pleckstrin homology domain containing 9606.ENSP00000216452 PIGH 188 Phosphatidylinositol N-acetylglucosaminyltransferase subunit H; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis 9606.ENSP00000216455 PSMA3 255 Proteasome subunit alpha type-3; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] 9606.ENSP00000216465 GSTZ1 216 Maleylacetoacetate isomerase; Bifunctional enzyme showing minimal glutathione- conjugating activity with ethacrynic acid and 7-chloro-4- nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Has also low glutathione peroxidase activity with T- butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid; Soluble glutathione S-transferases 9606.ENSP00000216468 TMED8 325 Protein TMED8; Transmembrane p24 trafficking protein family member 8; GOLD domain containing 9606.ENSP00000216471 SAMD15 674 Sterile alpha motif domain containing 15 9606.ENSP00000216479 AHSA1 338 Activator of 90 kDa heat shock protein ATPase homolog 1; Acts as a co-chaperone of HSP90AA1. Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity. Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins 9606.ENSP00000216484 SPTLC2 562 Serine palmitoyltransferase 2; Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000216487 RIN3 985 Ras and Rab interactor 3; Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function; Belongs to the RIN (Ras interaction/interference) family 9606.ENSP00000216489 ALKBH1 389 Nucleic acid dioxygenase ALKBH1; Dioxygenase that acts as on nucleic acids, such as DNA and tRNA. Requires molecular oxygen, alpha-ketoglutarate and iron. A number of activities have been described for this dioxygenase, but recent results suggest that it mainly acts as on tRNAs and mediates their demethylation or oxidation depending on the context and subcellular compartment. Mainly acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs, with a preference for N(1)-methyladenine at position 58 (m1A58) present on a stem loop structure of tRNAs. Acts as a regulator o [...] 9606.ENSP00000216492 CHGA 457 Chromogranin-A; Pancreastatin: Strongly inhibits glucose induced insulin release from the pancreas; Belongs to the chromogranin/secretogranin protein family 9606.ENSP00000216500 DHRS7 339 Dehydrogenase/reductase SDR family member 7; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000216513 SIX4 781 Homeobox protein SIX4; Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5'-[CAT]A[CT][CT][CTG]GA[GAT]-3' motif present in the Trex site and a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 site of the muscle-specific genes enhancer. Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein. [...] 9606.ENSP00000216540 SLC10A1 349 Sodium/bile acid cotransporter; The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family 9606.ENSP00000216554 EIF5 431 Eukaryotic translation initiation factor 5; Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]) 9606.ENSP00000216602 ZFYVE21 252 Zinc finger FYVE domain-containing protein 21; Plays a role in cell adhesion, and thereby in cell motility which requires repeated formation and disassembly of focal adhesions. Regulates microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassembly, as well as integrin beta-1/ITGB1 cell surface expression; Zinc fingers FYVE-type 9606.ENSP00000216605 MTHFD1 935 C-1-tetrahydrofolate synthase, cytoplasmic; Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1; In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family 9606.ENSP00000216629 BDKRB1 353 B1 bradykinin receptor; This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation 9606.ENSP00000216639 VRK1 396 Serine/threonine-protein kinase VRK1; Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream target protein. Phosphorylates 'Thr- 18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm. Phosph [...] 9606.ENSP00000216714 APEX1 318 DNA-(apurinic or apyrimidinic site) lyase; Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 in DNA repair and redox regulation of transcriptional factors. Functions as a apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribo [...] 9606.ENSP00000216727 PABPN1 306 Polyadenylate-binding protein 2; Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense- mediated decay (NMD) of mRNA. Cooperates with SKIP to syner [...] 9606.ENSP00000216733 EFS 561 Embryonal Fyn-associated substrate; Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity); Cas scaffolding proteins 9606.ENSP00000216756 CINP 212 Cyclin-dependent kinase 2-interacting protein; Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling; Belongs to the CINP family 9606.ENSP00000216780 PCK2 640 Phosphoenolpyruvate carboxykinase [GTP], mitochondrial; Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle; Belongs to the phosphoenolpyruvate carboxykinase [GTP] family 9606.ENSP00000216797 NFKBIA 317 NF-kappa-B inhibitor alpha; Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription 9606.ENSP00000216802 PSME2 239 Proteasome activator complex subunit 2; Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome 9606.ENSP00000216807 BRMS1L 323 Breast cancer metastasis-suppressor 1-like protein; Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth 9606.ENSP00000216832 PNN 717 Pinin; Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Auxiliary component of the splicing- dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulatio [...] 9606.ENSP00000216862 CYP24A1 514 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product; Cytochrome P450 family 24 9606.ENSP00000216911 AURKA 403 Aurora kinase A; Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for initial activation of CDK1 at centrosomes. Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDE [...] 9606.ENSP00000216923 ZFP64 681 Zinc finger protein 64 homolog, isoforms 1 and 2; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000216951 GSS 474 Glutathione synthetase; Belongs to the eukaryotic GSH synthase family 9606.ENSP00000216962 PYGB 843 Glycogen phosphorylase, brain form; Glycogen phosphorylase that regulates glycogen mobilization. Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties 9606.ENSP00000216968 PROCR 238 Endothelial protein C receptor; Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation; CD molecules 9606.ENSP00000217026 MYBL2 700 Myb-related protein B; Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene; Myb/SANT domain containing 9606.ENSP00000217043 R3HDML 253 Peptidase inhibitor R3HDML; Putative serine protease inhibitor; CAP superfamily 9606.ENSP00000217086 SALL4 1053 Sal-like protein 4; Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells; Zinc fingers C2H2-type 9606.ENSP00000217109 CSTF1 431 Cleavage stimulation factor subunit 1; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA 9606.ENSP00000217121 TPD52L2 229 Tumor protein D52 like 2 9606.ENSP00000217131 CTSZ 303 Cathepsin Z; Exhibits carboxy-monopeptidase as well as carboxy- dipeptidase activity; Cathepsins 9606.ENSP00000217133 TUBB1 451 Tubulin beta-1 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity); Belongs to the tubulin family 9606.ENSP00000217159 SLCO4A1 722 Solute carrier organic anion transporter family member 4A1; Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000217169 BIRC7 298 Baculoviral IAP repeat-containing protein 7; Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocki [...] 9606.ENSP00000217173 UBOX5 541 RING finger protein 37; May have a ubiquitin-protein ligase activity acting as an E3 ubiquitin-protein ligase or as a ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates; Ring finger proteins 9606.ENSP00000217182 EEF1A2 463 Elongation factor 1-alpha 2; This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily 9606.ENSP00000217188 SRMS 488 Tyrosine-protein kinase Srms; Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues. May be involved in proliferation or differentiation of keratinocytes in the skin; SH2 domain containing 9606.ENSP00000217195 C20orf27 199 UPF0687 protein C20orf27; Chromosome 20 open reading frame 27 9606.ENSP00000217233 TRIB3 358 Tribbles homolog 3; Disrupts insulin signaling by binding directly to Akt kinases and blocking their activation. May bind directly to and mask the 'Thr-308' phosphorylation site in AKT1. Binds to ATF4 and inhibits its transcriptional activation activity. Interacts with the NF-kappa-B transactivator p65 RELA and inhibits its phosphorylation and thus its transcriptional activation activity. Interacts with MAPK kinases and regulates activation of MAP kinases. May play a role in programmed neuronal cell death but does not appear to affect non-neuronal cells. Does not display kinase activit [...] 9606.ENSP00000217244 CSNK2A1 391 Casein kinase II subunit alpha; Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoin [...] 9606.ENSP00000217246 MACROD2 425 O-acetyl-ADP-ribose deacetylase MACROD2; Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins 9606.ENSP00000217254 SLC52A3 469 Solute carrier family 52, riboflavin transporter, member 3; Transporter for riboflavin, which must be obtained as a nutrient via intestinal absorption. Riboflavin transport is Na(+)- independent at low pH but significantly reduced by Na(+) depletion under neutral pH conditions. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride; Solute carriers 9606.ENSP00000217260 RSPO4 234 R-spondin-4; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway; Endogenous ligands 9606.ENSP00000217270 PROKR2 384 Prokineticin receptor 2; Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase 9606.ENSP00000217289 FERMT1 677 Fermitin family homolog 1; Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression; Belongs to the kindlin family 9606.ENSP00000217320 TLDC2 215 TLD domain-containing protein 2; TBC/LysM-associated domain containing 2; Belongs to the OXR1 family 9606.ENSP00000217372 CDK5RAP1 587 CDK5 regulatory subunit-associated protein 1; Specifically inhibits CDK5 activation by CDK5R1 9606.ENSP00000217381 SNTA1 505 Alpha-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity); PDZ domain containing 9606.ENSP00000217386 OXT 125 Oxytocin-neurophysin 1; Neurophysin 1 specifically binds oxytocin; Endogenous ligands 9606.ENSP00000217402 CHMP4B 224 Charged multivesicular body protein 4b; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] 9606.ENSP00000217407 LBP 481 Lipopolysaccharide-binding protein; Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria. Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide; BPI fold containing 9606.ENSP00000217420 SLC32A1 525 Vesicular inhibitory amino acid transporter; Involved in the uptake of GABA and glycine into the synaptic vesicles; Solute carriers 9606.ENSP00000217423 CST4 141 Cystatin-S; This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively; Cystatins, type 2 9606.ENSP00000217426 AHCY 432 Adenosylhomocysteinase; Adenosylhomocysteine is a competitive inhibitor of S- adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine 9606.ENSP00000217428 SPINT3 89 Serine peptidase inhibitor, Kunitz type 3 9606.ENSP00000217446 PIGU 435 Phosphatidylinositol glycan anchor biosynthesis class U protein; Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI; Phosphatidylinositol glycan anchor biosynthesis 9606.ENSP00000217455 ACOT8 319 Acyl-coenzyme A thioesterase 8; Acyl-coenzyme A (acyl-CoA) thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Competes with bile acid CoA:amino acid N-acyltransferase (BAAT) for bile acid-CoA substrate (such as chenodeoxycholoyl-CoA). Shows a preference for medium-length fatty acyl-CoAs (C2 to C20). Inactive towards substrates with more than C20 aliphatic chains. Involved in the metabolic regulation of peroxisome p [...] 9606.ENSP00000217456 APMAP 416 Adipocyte plasma membrane-associated protein; Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation; Belongs to the strictosidine synthase family 9606.ENSP00000217515 TXNL1 289 Thioredoxin-like protein 1; Active thioredoxin with a redox potential of about -250 mV 9606.ENSP00000217652 MYL12A 171 Myosin regulatory light chain 12A; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity); EF-hand domain containing 9606.ENSP00000217740 RNF125 232 E3 ubiquitin-protein ligase RNF125; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins, such as DDX58/RIG-I, MAVS/IPS1, IFIH1/MDA5, JAK1 and p53/TP53. Acts as a negative regulator of type I interferon production by mediating ubiquitination of DDX58/RIG-I at 'Lys-181', leading to DDX58/RIG-I degradation. Mediates ubiquitination and subsequent degradation of p53/TP53. Mediates ubiquitination and subsequent degradation of JAK1. Acts as a positive regulator of T-cell activation; Ring finger proteins 9606.ENSP00000217901 IDH3G 393 Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial; Regulatory subunit which plays a role in the allosteric regulation of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers 9606.ENSP00000217909 SLC25A43 341 Solute carrier family 25 member 43; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000217939 MXRA5 2828 Matrix-remodeling-associated protein 5; In kidney, has anti-inflammatory and anti-fibrotic properties by limiting the induction of chemokines, fibronectin and collagen expression in response to TGB1 and pro-inflammatory stimuli; I-set domain containing 9606.ENSP00000217958 PSMD10 226 26S proteasome non-ATPase regulatory subunit 10; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD10:PSMC4:PSMC5:PAAF1 module which probably assembles with a PSMD5:PSMC2:PSMC1:PSMD2 module. Independently of the proteasome, regulates EGF-induced AKT activation through inhibition of the RHOA/ROCK/PTEN pathway, leading to prolonged AKT activation. Plays an important role in RAS-induced tumorigenesis; Ankyrin repeat domain containing 9606.ENSP00000217961 STS 583 Steryl-sulfatase; Conversion of sulfated steroid precursors to estrogens during pregnancy; Sulfatases 9606.ENSP00000217964 TBL1X 577 F-box-like/WD repeat-containing protein TBL1X; F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange; WD repeat domain containing 9606.ENSP00000217971 PGRMC1 195 Membrane-associated progesterone receptor component 1; Component of a progesterone-binding protein complex. Binds progesterone. Has many reported cellular functions (heme homeostasis, interaction with CYPs); Belongs to the cytochrome b5 family. MAPR subfamily 9606.ENSP00000217999 RHOXF1 184 Rhox homeobox family member 1; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis; PRD class homeoboxes and pseudogenes 9606.ENSP00000218004 NXT2 197 NTF2-related export protein 2; Regulator of protein export for NES-containing proteins. Also plays a role in mRNA nuclear export 9606.ENSP00000218006 GUCY2F 1108 Retinal guanylyl cyclase 2; Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction; Guanylate cyclase receptors 9606.ENSP00000218008 ATP1B4 357 Protein ATP1B4; May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit; Belongs to the X(+)/potassium ATPases subunit beta family 9606.ENSP00000218068 PAGE4 102 PAGE family member 4 9606.ENSP00000218075 GLRA2 452 Glycine receptor subunit alpha-2; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. Plays a role in cellular responses to ethanol 9606.ENSP00000218089 STAG2 1268 Cohesin subunit SA-2; Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis; Belongs to the SCC3 family 9606.ENSP00000218099 F9 461 Coagulation factor IX; Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa; Belongs to the peptidase S1 family 9606.ENSP00000218104 ABCD1 745 ATP-binding cassette sub-family D member 1; Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity; Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily 9606.ENSP00000218176 KCND1 647 Potassium voltage-gated channel subfamily D member 1; Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits; Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily 9606.ENSP00000218224 PQBP1 265 Polyglutamine-binding protein 1; Intrinsically disordered protein that acts as a scaffold, and which is involved in different processes, such as pre-mRNA splicing, transcription regulation, innate immunity and neuron development. Interacts with splicing-related factors via the intrinsically disordered region and regulates alternative splicing of target pre-mRNA species. May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-in [...] 9606.ENSP00000218230 PCSK1N 260 ProSAAS; May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timi [...] 9606.ENSP00000218249 RAB40AL 278 Ras-related protein Rab-40A-like; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000218316 GPR50 617 Melatonin-related receptor; Does not bind melatonin; G protein-coupled receptors, Class A orphans 9606.ENSP00000218340 RP2 350 Protein XRP2; Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins; Belongs to the TBCC family 9606.ENSP00000218348 USP11 963 Ubiquitin carboxyl-terminal hydrolase 11; Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Inhibits the degradation of target proteins by the proteasome. Cleaves preferentially 'Lys-6' and 'Lys-63'-linked ubiquitin chains. Has lower activity with 'Lys-11' and 'Lys-33'-linked ubiquitin chains, and extremely low activity with 'Lys-27', 'Lys-29' and 'Lys-48'- linked ubiquitin chains (in vitro). Plays a role in the regulation of pathways leading to NF-kappa-B activation. Plays a role in the regulation of DNA repair after double-stranded DNA break [...] 9606.ENSP00000218388 TIMP1 207 Metalloproteinase inhibitor 1; Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling. Mediates erythropoiesis in vitro; but, unlike IL3, it [...] 9606.ENSP00000218436 ITIH6 1313 Inter-alpha-trypsin inhibitor heavy chain family member 6; Belongs to the ITIH family 9606.ENSP00000218516 GLA 429 Galactosidase alpha; Belongs to the glycosyl hydrolase 27 family 9606.ENSP00000218548 ATP12A 1045 Potassium-transporting ATPase alpha chain 2; Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily 9606.ENSP00000218721 MLNR 412 Motilin receptor; Receptor for motilin; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000218867 SGCG 291 Gamma-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix 9606.ENSP00000219022 OLFM4 510 Olfactomedin-4; May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin 9606.ENSP00000219066 NTHL1 312 Endonuclease III-like protein 1; Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N- glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA gly [...] 9606.ENSP00000219069 ZNF263 683 Zinc finger protein 263; Might play an important role in basic cellular processes as a transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000219070 MMP2 660 72 kDa type IV collagenase; Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3b [...] 9606.ENSP00000219097 ORC6 252 Origin recognition complex subunit 6; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre- replication complex necessary to initiate DNA replication. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 9606.ENSP00000219139 C16orf70 422 UPF0183 protein C16orf70; Chromosome 16 open reading frame 70; Belongs to the UPF0183 family 9606.ENSP00000219150 CORO1A 461 Coronin-1A; May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria- infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes; Belongs to the WD repeat coronin family 9606.ENSP00000219162 MT4 62 Metallothionein-4; Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia; Metallothioneins 9606.ENSP00000219169 NUTF2 127 Nuclear transport factor 2; Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import 9606.ENSP00000219197 CBLN1 193 Cerebellin-1; Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the matching and maintenance of pre- and post-synaptic elements at parallel fiber-Purkinje cell synapses, the establishment of the proper pattern of climbing fiber-Purkinje cell innervation, and induction of long-term depression at parallel fiber-Purkinje cell synapses. Plays a role as a synaptic organizer that acts bidirectionally on both pre- and post-synaptic components. On the one hand induces accumulation of synaptic vesicles in the pre-synaptic part by binding [...] 9606.ENSP00000219204 ARL2BP 163 ADP-ribosylation factor-like protein 2-binding protein; Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2 9606.ENSP00000219207 PLLP 182 Plasmolipin; Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity); Belongs to the MAL family 9606.ENSP00000219235 CCL22 93 C-C motif chemokine 22; May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T-lymphocytes and a potent chemoattractant for chronically activated T-lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active; Belongs to the intercrine beta (chemokine CC) [...] 9606.ENSP00000219240 DHODH 395 Dihydroorotate dehydrogenase (quinone), mitochondrial; Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor 9606.ENSP00000219244 CCL17 94 C-C motif chemokine 17; Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000219252 POLR2C 275 DNA-directed RNA polymerase II subunit RPB3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB3 is part of the core element with the central large cleft and the clamp element that moves to open and close the cleft (By similarity) 9606.ENSP00000219255 PARD6A 346 Partitioning defective 6 homolog alpha; Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Regulates centrosome organization and function. Essential for the centrosomal recruitment of key proteins that control centrosomal microtubule organization; Belongs to the PAR6 family 9606.ENSP00000219271 MMP15 669 Matrix metalloproteinase-15; Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A; Belongs to the peptidase M10A family 9606.ENSP00000219281 USB1 265 U6 snRNA phosphodiesterase; Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate; Belongs to the 2H phosphoesterase superfamily. USB1 family 9606.ENSP00000219299 CCDC113 377 Coiled-coil domain-containing protein 113; Component of centriolar satellites contributing to primary cilium formation 9606.ENSP00000219301 PRSS54 395 Serine protease 54 9606.ENSP00000219302 NME3 169 Nucleoside diphosphate kinase 3; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis; NME/NM23 family 9606.ENSP00000219313 PSMD7 324 26S proteasome non-ATPase regulatory subunit 7; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the peptidase M67A family 9606.ENSP00000219315 SETD6 473 N-lysine methyltransferase SETD6; Protein-lysine N-methyltransferase. Monomethylates 'Lys- 310' of the RELA subunit of NF-kappa-B complex, leading to down- regulate NF-kappa-B transcription factor activity. Monomethylates 'Lys-8' of H2AZ (H2AZK8me1). Required for the maintenance of embryonic stem cell self-renewal (By similarity); Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SETD6 subfamily 9606.ENSP00000219334 SMPD3 655 Sphingomyelin phosphodiesterase 3; Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization; Belongs to the neutral sphingomyelinase family 9606.ENSP00000219345 PLA2G15 412 Group XV phospholipase A2; Has transacylase and calcium-independent phospholipase A2 activity. Catalyzes the formation of 1-O-acyl-N-acetylsphingosine and the concomitant release of a lyso-phospholipid. Has high activity with 1-palmitoyl-2-oleoyl-sn-glycero-3- phosphocholine (POPC) and 1,2-dioleoyl-sn-glycero-3-phosphocholine (DOPC), catalyzing the transfer of oleic acid to N-acetyl- sphingosine. Required for normal phospholipid degradation in alveolar and peritoneal macrophages and in spleen (By similarity). May have weak lysophospholipase activity; Phospholipases 9606.ENSP00000219368 FA2H 372 Fatty acid 2-hydroxylase; Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids; Belongs to the sterol desaturase family. SCS7 subfamily 9606.ENSP00000219400 CMC2 79 COX assembly mitochondrial protein 2 homolog; May be involved in cytochrome c oxidase biogenesis 9606.ENSP00000219406 PDIA2 525 Protein disulfide-isomerase A2; Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins; Protein disulfide isomerases 9606.ENSP00000219409 ARHGDIG 225 Rho GDP-dissociation inhibitor 3; Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post- translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP 9606.ENSP00000219431 MPG 298 DNA-3-methyladenine glycosylase; Hydrolysis of the deoxyribose N-glycosidic bond to excise 3-methyladenine, and 7-methylguanine from the damaged DNA polymer formed by alkylation lesions 9606.ENSP00000219439 HSDL1 330 Inactive hydroxysteroid dehydrogenase-like protein 1; Short chain dehydrogenase/reductase superfamily; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily 9606.ENSP00000219454 WFDC1 220 WAP four-disulfide core domain protein 1; Has growth inhibitory activity; WAP four-disulfide core domain containing 9606.ENSP00000219476 TSC2 1807 Tuberin; In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. May also play a role in microtubule-mediated protein transport. Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5; Armadillo-like helical domain containing 9606.ENSP00000219478 ZNF500 480 Zinc finger protein 500; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000219479 NME4 187 Nucleoside diphosphate kinase, mitochondrial; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Through the catalyzed exchange of gamma- phosphate between di- and triphosphonucleosides participates in regulation of intracellular nucleotide homeostasis. Binds to anionic phospholipids, predominantly to cardiolipin; the binding inhibits its phosphotransfer activity. Acts as mitochondria-specific NDK; its association with cardiol [...] 9606.ENSP00000219481 DECR2 292 Peroxisomal 2,4-dienoyl-CoA reductase; Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19- docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid; Belongs to the short-chain dehydrogenases/reducta [...] 9606.ENSP00000219548 STUB1 303 E3 ubiquitin-protein ligase CHIP; E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Me [...] 9606.ENSP00000219596 MEFV 781 Pyrin; Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18- mediated inflammation. However, i [...] 9606.ENSP00000219599 CRYM 314 Ketimine reductase mu-crystallin; Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors 9606.ENSP00000219611 CAPN15 1086 Calpain-15; Zinc fingers RANBP2-type ; Calpains 9606.ENSP00000219660 AQP8 261 Aquaporin-8; Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea; Belongs to the MIP/aquaporin (TC 1.A.8) family 9606.ENSP00000219689 USP31 1352 Ubiquitin carboxyl-terminal hydrolase 31; May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins (By similarity); Belongs to the peptidase C19 family 9606.ENSP00000219746 TOX3 576 TOX high mobility group box family member 3; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region; Trinucleotide repeat containing 9606.ENSP00000219782 MAZ 493 Myc-associated zinc finger protein; May function as a transcription factor with dual roles in transcription initiation and termination. Binds to two sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Regulates inflammation-induced expression of serum amyloid A proteins; Zinc fingers C2H2-type 9606.ENSP00000219789 CDIPT 213 CDP-diacylglycerol--inositol 3-phosphatidyltransferase; Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme 9606.ENSP00000219833 SLC6A2 628 Sodium-dependent noradrenaline transporter; Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily 9606.ENSP00000219837 KNOP1 458 Lysine rich nucleolar protein 1 9606.ENSP00000219905 MGA 3065 MAX gene-associated protein; Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepr [...] 9606.ENSP00000219919 AQP9 295 Aquaporin-9; Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol; Belongs to the MIP/aquaporin (TC 1.A.8) family 9606.ENSP00000220003 CSK 450 Tyrosine-protein kinase CSK; Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or ada [...] 9606.ENSP00000220058 MTFMT 389 Methionyl-tRNA formyltransferase, mitochondrial; Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity) 9606.ENSP00000220062 RASL12 266 Ras-like protein family member 12; RAS type GTPase family 9606.ENSP00000220166 CTSH 335 Pro-cathepsin H; Important for the overall degradation of proteins in lysosomes; Belongs to the peptidase C1 family 9606.ENSP00000220325 EHD4 541 EH domain-containing protein 4; ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport; EF-hand domain containing 9606.ENSP00000220420 TGM5 720 Protein-glutamine gamma-glutamyltransferase 5; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes; Belongs to the transglutaminase superfamily. Transglutaminase family 9606.ENSP00000220429 GABPB1 395 GA-binding protein subunit beta-1; Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene; Ankyrin repeat domain containing 9606.ENSP00000220478 SCG3 468 Secretogranin-3; Secretogranin III; Granins 9606.ENSP00000220496 DNAJC17 304 DnaJ homolog subfamily C member 17; May negatively affect PAX8-induced thyroglobulin/TG transcription; DNAJ heat shock proteins 9606.ENSP00000220507 RHOV 236 Rho-related GTP-binding protein RhoV; Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway; Belongs to the small GTPase superfamily. Rho family 9606.ENSP00000220509 VPS18 973 Vacuolar protein sorting-associated protein 18 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late [...] 9606.ENSP00000220514 OIP5 229 Protein Mis18-beta; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis; Belongs to the mis18 family 9606.ENSP00000220531 BLOC1S6 172 Biogenesis of lysosome-related organelles complex 1 subunit 6; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particular [...] 9606.ENSP00000220562 EXTL3 919 Exostosin-like 3; Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation 9606.ENSP00000220592 AGO2 859 Protein argonaute-2; Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The 'minimal RISC' appears to include AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC-mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the [...] 9606.ENSP00000220597 PAG1 432 Phosphoprotein associated with glycosphingolipid-enriched microdomains 1; Negatively regulates TCR (T-cell antigen receptor)- mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling 9606.ENSP00000220616 TG 2768 Thyroglobulin; Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3); Belongs to the type-B carboxylesterase/lipase family 9606.ENSP00000220659 BRF2 419 Transcription factor IIIB 50 kDa subunit; General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites. Contributes to the regulation of gene expression; functions as activator in the absence of oxidative stress. Down-regulates expression of target genes in response to oxidative stress. Overexpression protects cells against apoptosis in response to oxidative stress; Belongs to the TFIIB family 9606.ENSP00000220669 ZFAND1 268 Zinc finger AN1-type containing 1 9606.ENSP00000220676 RP1 2156 Oxygen-regulated protein 1; Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity); Doublecortin superfamily 9606.ENSP00000220751 RIPK2 540 Receptor-interacting serine/threonine-protein kinase 2; Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains. Contributes to the tyrosine phosphorylation of the guanine exchange factor ARHGEF2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Once recruited, RIPK2 autophosphorylates and undergoes 'Lys-63'-linked polyubiquitination by E3 ubiquitin ligases XIAP, BIRC2 and BIRC3 [...] 9606.ENSP00000220763 CPQ 472 Carboxypeptidase Q; Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor 9606.ENSP00000220764 DECR1 335 2,4-dienoyl-CoA reductase, mitochondrial; Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3- enoyl-CoA; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily 9606.ENSP00000220772 SFRP1 314 Secreted frizzled-related protein 1; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metane [...] 9606.ENSP00000220809 PLAT 562 Tissue-type plasminogen activator; Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Plays a direct role in facilitating neuronal migration 9606.ENSP00000220812 DKK4 224 Dickkopf-related protein 4; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero- posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity) 9606.ENSP00000220822 GDAP1 358 Ganglioside-induced differentiation-associated protein 1; Regulates the mitochondrial network by promoting mitochondrial fission 9606.ENSP00000220849 EIF3E 445 Eukaryotic translation initiation factor 3 subunit E; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000220853 EMC2 297 ER membrane protein complex subunit 2; Tetratricopeptide repeat domain containing 9606.ENSP00000220913 CHRAC1 131 Chromatin accessibility complex protein 1; Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1 9606.ENSP00000220940 GML 158 Glycosyl-phosphatidylinositol-anchored molecule-like protein; May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage; LY6/PLAUR domain containing 9606.ENSP00000220966 PYCRL 286 Pyrroline-5-carboxylate reductase 3; Enzyme that catalyzes the last step in proline biosynthesis. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCRL is exclusively linked to the conversion of ornithine to proline 9606.ENSP00000221086 MTMR9 549 Myotubularin-related protein 9; Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential); Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily 9606.ENSP00000221114 DCTN6 190 Dynactin subunit 6; Belongs to the dynactin subunits 5/6 family. Dynactin subunit 6 subfamily 9606.ENSP00000221130 GSR 522 Glutathione reductase, mitochondrial; Maintains high levels of reduced glutathione in the cytosol 9606.ENSP00000221132 TNFRSF10A 468 Tumor necrosis factor receptor superfamily member 10A; Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B; CD molecules 9606.ENSP00000221138 PPP2CB 309 Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform; PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase; Protein phosphatase catalytic subunits 9606.ENSP00000221166 NEFM 916 Neurofilament medium polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber 9606.ENSP00000221200 KCTD9 389 BTB/POZ domain-containing protein KCTD9; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome; BTB domain containing 9606.ENSP00000221233 EXOSC5 235 Exosome complex component RRP46; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] 9606.ENSP00000221265 PAF1 531 RNA polymerase II-associated factor 1 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...] 9606.ENSP00000221307 CYP4F3 520 Docosahexaenoic acid omega-hydroxylase CYP4F3; Isoform CYP4F3A: Catalyzes the omega-hydroxylation of leukotriene-B(4), a potent chemoattractant for polymorphonuclear leukocytes, it has low activity for arachidonic acid; Cytochrome P450 family 4 9606.ENSP00000221327 ZNF180 692 Zinc finger protein 180; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000221399 TULP2 520 Tubby like protein 2; Belongs to the TUB family 9606.ENSP00000221403 DHDH 334 Dihydrodiol dehydrogenase; Belongs to the Gfo/Idh/MocA family 9606.ENSP00000221418 ECH1 328 Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA 9606.ENSP00000221419 HNRNPL 589 Heterogeneous nuclear ribonucleoprotein L; Splicing factor binding to exonic or intronic sites and acting as either an activator or repressor of exon inclusion. Exhibits a binding preference for CA-rich elements. Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and associated with most nascent transcripts. Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter; RNA binding motif containing 9606.ENSP00000221421 LHB 141 Lutropin subunit beta; Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids; Endogenous ligands 9606.ENSP00000221444 KCNA7 456 Potassium voltage-gated channel subfamily A member 7; Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity); Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily 9606.ENSP00000221452 RELB 579 Transcription factor RelB; NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF- kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguisha [...] 9606.ENSP00000221455 CLASRP 674 CLK4-associating serine/arginine rich protein; Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by regulating members of the CLK kinase family (By similarity); Belongs to the splicing factor SR family 9606.ENSP00000221459 LIN7B 207 Protein lin-7 homolog B; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...] 9606.ENSP00000221462 PPP1R37 691 Protein phosphatase 1 regulatory subunit 37; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes; Belongs to the PPP1R37 family 9606.ENSP00000221466 FCGRT 365 IgG receptor FcRn large subunit p51; Binds to the Fc region of monomeric immunoglobulins gamma. Mediates the selective uptake of IgG from milk and helps newborn animals to acquire passive immunity. IgG in the milk is bound at the apical surface of the intestinal epithelium. The resultant FcRn-IgG complexes are transcytosed across the intestinal epithelium and IgG is released from FcRn into blood or tissue fluids (By similarity). Possible role in transfer of immunoglobulin G from mother to fetus 9606.ENSP00000221476 CKM 381 Creatine kinase M-type; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa 9606.ENSP00000221480 PEX11G 241 Peroxisomal membrane protein 11C; Promotes membrane protrusion and elongation on the peroxisomal surface; Belongs to the peroxin-11 family 9606.ENSP00000221485 SLC17A7 560 Vesicular glutamate transporter 1; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate; Solute carriers 9606.ENSP00000221486 RNASEH2A 299 Ribonuclease H2 subunit A; Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes; Belongs to the RNase HII family. Eukaryotic subfamily 9606.ENSP00000221494 SF3A2 464 Splicing factor 3A subunit 2; Subunit of the splicing factor SF3A required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex; Belongs to the SF3A2 family 9606.ENSP00000221496 AMH 560 Muellerian-inhibiting factor; This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin; Endogenous ligands 9606.ENSP00000221498 DKKL1 242 Dickkopf-like protein 1; Involved in fertilization by facilitating sperm penetration of the zona pellucida. May promotes spermatocyte apoptosis, thereby limiting sperm production. In adults, may reduces testosterone synthesis in Leydig cells. Is not essential either for development or fertility 9606.ENSP00000221515 RETN 108 Resistin; Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells (By similarity). Potentially links obesity to diabetes (By similarity). Promotes chemotaxis in myeloid cells 9606.ENSP00000221538 RSPH6A 717 Radial spoke head 6 homolog A; Belongs to the flagellar radial spoke RSP4/6 family 9606.ENSP00000221543 TBC1D17 648 TBC1 domain family member 17; Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known 9606.ENSP00000221561 AES 264 Amino-terminal enhancer of split; Transcriptional corepressor. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptional repressor activity of SIX3 during retina and lens development; Belongs to the WD repeat Groucho/TLE family 9606.ENSP00000221566 SGTA 313 Small glutamine-rich tetratricopeptide repeat-containing protein alpha; Co-chaperone that binds misfolded and hydrophobic patches-containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails. Functions in tail-anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module. Probably functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins. It is also inv [...] 9606.ENSP00000221573 SNAPC2 334 snRNA-activating protein complex subunit 2; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box 9606.ENSP00000221665 FIZ1 496 Flt3-interacting zinc finger protein 1; May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity); Zinc fingers C2H2-type 9606.ENSP00000221671 C19orf44 657 Uncharacterized protein C19orf44; Chromosome 19 open reading frame 44 9606.ENSP00000221700 CYP4F2 520 Phylloquinone omega-hydroxylase CYP4F2; Omega-hydroxylase that oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids and xenobiotics. Plays a key role in vitamin K catabolism by mediating omega-hydroxylation of vitamin K1 (phylloquinone), and menaquinone-4 (MK-4), a form of vitamin K2. Hydroxylation of phylloquinone and MK-4 probably regulates blood coagulation. Also shows arachidonic acid omega-hydroxylase activity in kidney, by mediating conversion of arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE), possibly influencing blood pressure c [...] 9606.ENSP00000221730 EPHX3 360 Epoxide hydrolase 3; Catalyzes the hydrolysis of epoxide-containing fatty acids. Active in vitro against epoxyeicosatrienoic acids (EETs) including 8,9-EET, 9,10-EET, 11,12-EET and 14,15-EET and leukotoxin; Abhydrolase domain containing 9606.ENSP00000221742 SLC1A6 564 Excitatory amino acid transporter 4; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (By similarity). Plays a redundant role in the rapid removal of released glutamate from the synapt [...] 9606.ENSP00000221797 LGALS13 139 Galactoside-binding soluble lectin 13; Binds beta-galactoside and lactose. Strong inducer of T- cell apoptosis; Galectins 9606.ENSP00000221801 FBL 321 rRNA 2'-O-methyltransferase fibrillarin; S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification [...] 9606.ENSP00000221804 CLC 142 Galectin-10; Regulates immune responses through the recognition of cell-surface glycans. Essential for the anergy and suppressive function of CD25-positive regulatory T-cells (Treg); Galectins 9606.ENSP00000221847 EBI3 229 Interleukin-27 subunit beta; Associates with IL27 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T- helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal ex [...] 9606.ENSP00000221855 TBCB 244 Tubulin-folding cofactor B; Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer. Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity); Belongs to the TBCB family 9606.ENSP00000221856 FSD1 496 Fibronectin type III and SPRY domain-containing protein 1; May be involved in microtubule organization and stabilization; Fibronectin type III domain containing 9606.ENSP00000221859 POLR2I 125 DNA-directed RNA polymerase II subunit RPB9; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity) 9606.ENSP00000221891 APLP1 651 Amyloid-like protein 1; May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I; Belongs to the APP family 9606.ENSP00000221922 CCDC9 531 Coiled-coil domain containing 9 9606.ENSP00000221930 TGFB1 390 Transforming growth factor beta-1; Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts (By similarity). Stimulates sustained production of collagen through the activation of CREB3L1 by regulated intramembrane proteolysi [...] 9606.ENSP00000221954 CEACAM4 244 Carcinoembryonic antigen-related cell adhesion molecule 4; Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles; Carcinoembryonic antigen related cell adhesion molecule family 9606.ENSP00000221957 PLIN3 434 Perilipin-3; Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network; Perilipins 9606.ENSP00000221972 CD79A 226 B-cell antigen receptor complex-associated protein alpha chain; Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with [...] 9606.ENSP00000221973 LIM2 215 Lens intrinsic membrane protein 2 9606.ENSP00000221978 NKG7 165 Protein NKG7; Natural killer cell granule protein 7; Belongs to the PMP-22/EMP/MP20 family 9606.ENSP00000221980 ICAM5 924 Intercellular adhesion molecule 5; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2); Ig-like cell adhesion molecule family 9606.ENSP00000221992 CEACAM5 702 Carcinoembryonic antigen-related cell adhesion molecule 5; Cell surface glycoprotein that plays a role in cell adhesion and in intracellular signaling. Receptor for E.coli Dr adhesins; CD molecules 9606.ENSP00000221996 CRX 299 Cone-rod homeobox protein; Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors; Belongs to the paired homeobox family 9606.ENSP00000222002 SULT2A1 285 Bile salt sulfotransferase; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands; Sulfotransferases, cytosolic 9606.ENSP00000222005 CDC37 378 Hsp90 co-chaperone Cdc37; Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity. Inhibits HSP90AA1 ATPase activity 9606.ENSP00000222008 RABAC1 185 Prenylated Rab acceptor protein 1; General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI; Belongs to the PRA1 family 9606.ENSP00000222032 CNFN 112 Cornifelin; Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia 9606.ENSP00000222033 ZNRF4 429 E3 ubiquitin-protein ligase ZNRF4; E3 ubiquitin-protein ligase which specifically induces ubiquitination and proteasomal degradation of CANX within the endoplasmic reticulum. Could have a role in spermatogenesis (By similarity); Ring finger proteins 9606.ENSP00000222115 HAS1 578 Hyaluronan synthase 1; Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito- oligosaccharide depending on the substrate (By similarity); Glycosyltransferase family 2 9606.ENSP00000222120 RAB3D 219 Ras-related protein Rab-3D; Protein transport. Probably involved in regulated exocytosis (By similarity); Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000222122 DBP 325 D site-binding protein; This transcriptional activator recognizes and binds to the sequence 5'-RTTAYGTAAY-3' found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation; Belongs to the bZIP family. PAR subfamily 9606.ENSP00000222139 EPOR 508 Erythropoietin receptor; Receptor for erythropoietin. Mediates erythropoietin- induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase 9606.ENSP00000222145 RASIP1 963 Ras-interacting protein 1; Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRA [...] 9606.ENSP00000222214 GCDH 438 Glutaryl-CoA dehydrogenase, mitochondrial; Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive; Belongs to the acyl-CoA dehydrogenase family 9606.ENSP00000222219 DNASE2 360 Deoxyribonuclease-2-alpha; Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells; Belongs to the DNase II family 9606.ENSP00000222224 LENG1 264 Leukocyte receptor cluster member 1; Spliceosomal C complex 9606.ENSP00000222247 RPL18A 176 Ribosomal protein L18a 9606.ENSP00000222248 SLC5A5 643 Sodium/iodide cotransporter; Mediates iodide uptake in the thyroid gland; Solute carriers 9606.ENSP00000222250 ARRDC2 407 Arrestin domain containing 2; Belongs to the arrestin family 9606.ENSP00000222254 PIK3R2 728 Phosphatidylinositol 3-kinase regulatory subunit beta; Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5- trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating th [...] 9606.ENSP00000222256 RAB3A 220 Ras-related protein Rab-3A; Involved in exocytosis by regulating a late step in synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal; RAB, member RAS oncogene GTPases 9606.ENSP00000222271 COMP 757 Cartilage oligomeric matrix protein; May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BI [...] 9606.ENSP00000222284 TMEM147 224 Transmembrane protein 147 9606.ENSP00000222286 GAPDHS 408 Glyceraldehyde-3-phosphate dehydrogenase, testis-specific; May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity) 9606.ENSP00000222305 USF2 346 Upstream stimulatory factor 2; Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters; Basic helix-loop-helix proteins 9606.ENSP00000222329 ERF 548 ETS domain-containing transcription factor ERF; Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity) 9606.ENSP00000222330 GSK3A 483 Glycogen synthase kinase-3 alpha; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. M [...] 9606.ENSP00000222345 SIPA1L3 1781 Signal-induced proliferation-associated 1-like protein 3; Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens; PDZ domain containing 9606.ENSP00000222374 CADM4 388 Cell adhesion molecule 4; Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor- suppressor activity; C2-set domain containing 9606.ENSP00000222381 PON1 355 Serum paraoxonase/arylesterase 1; Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation; Belongs to the paraoxonase family 9606.ENSP00000222382 CYP3A43 504 Cytochrome P450 3A43; Exhibits low testosterone 6-beta-hydroxylase activity; Cytochrome P450 family 3 9606.ENSP00000222388 ABCF2 634 ATP binding cassette subfamily F member 2 9606.ENSP00000222390 HGF 728 Hepatocyte growth factor; Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerization; Deafness associated genes 9606.ENSP00000222399 LAMB1 1786 Laminin subunit beta-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical dev [...] 9606.ENSP00000222402 UBE2D4 147 Ubiquitin-conjugating enzyme E2 D4; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and 'Lys-48'-linked polyubiquitination; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000222462 WNT16 365 Protein Wnt-16; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity) 9606.ENSP00000222481 CPA2 419 M14 carboxypeptidases 9606.ENSP00000222482 CPA4 421 Carboxypeptidase A4; Metalloprotease that could be involved in the histone hyperacetylation pathway. Releases a C-terminal amino acid, with preference for -Phe, -Leu, -Ile, -Met, -Tyr and -Val; Belongs to the peptidase M14 family 9606.ENSP00000222511 GTPBP10 387 GTP-binding protein 10; May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nucleolar architecture is observed; Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family 9606.ENSP00000222543 TFPI2 235 Tissue factor pathway inhibitor 2; May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin 9606.ENSP00000222547 BET1 118 BET1 homolog; Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity); SNAREs 9606.ENSP00000222553 NAMPT 491 Nicotinamide phosphoribosyltransferase; Catalyzes the condensation of nicotinamide with 5- phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway. The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma. Plays a role in the modulation of circadian clock fun [...] 9606.ENSP00000222567 TWISTNB 338 DNA-directed RNA polymerase I subunit RPA43; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters; Belongs to the eukaryotic RPA43 RNA polymerase subunit family 9606.ENSP00000222572 PON2 354 Serum paraoxonase/arylesterase 2; Capable of hydrolyzing lactones and a number of aromatic carboxylic acid esters. Has antioxidant activity. Is not associated with high density lipoprotein. Prevents LDL lipid peroxidation, reverses the oxidation of mildly oxidized LDL, and inhibits the ability of MM-LDL to induce monocyte chemotaxis; Paraoxonases 9606.ENSP00000222573 ITGB8 769 Integrin beta-8; Integrin alpha-V/beta-8 is a receptor for fibronectin 9606.ENSP00000222574 HBP1 514 HMG box-containing protein 1; Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'-TTCATTCATTCA-3'. Binding to the H1F0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4 9606.ENSP00000222584 SP4 784 Transcription factor Sp4; Binds to GT and GC boxes promoters elements. Probable transcriptional activator; Belongs to the Sp1 C2H2-type zinc-finger protein family 9606.ENSP00000222598 DLX5 289 Homeobox protein DLX-5; Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL an [...] 9606.ENSP00000222644 MPP6 540 MAGUK p55 subfamily member 6; Membrane associated guanylate kinases; Belongs to the MAGUK family 9606.ENSP00000222673 OGDH 1023 2-oxoglutarate dehydrogenase, mitochondrial; The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) 9606.ENSP00000222674 NPVF 196 Pro-FMRFamide-related neuropeptide VF; Neuropeptide RFRP-1 acts as a potent negative regulator of gonadotropin synthesis and secretion. Neuropeptides NPSF and NPVF efficiently inhibit forskolin-induced production of cAMP, but RFRP-2 shows no inhibitory activity. Neuropeptide RFRP-1 induces secretion of prolactin in rats. Neuropeptide NPVF blocks morphine- induced analgesia; Belongs to the FARP (FMRFamide related peptide) family 9606.ENSP00000222693 CAV2 162 Caveolin-2; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (B [...] 9606.ENSP00000222718 HOXA2 376 Homeobox protein Hox-A2; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. Proboscipedia subfamily 9606.ENSP00000222725 LFNG 379 Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1. Essential mediator of somite segmentation and patterning (By similarity); Bet [...] 9606.ENSP00000222726 HOXA5 270 Homeobox protein Hox-A5; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5'-CYYNATTA[TG]Y-3'; HOXL subclass homeoboxes 9606.ENSP00000222728 HOXA6 233 Homeobox protein Hox-A6; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000222747 TSPAN12 305 Tetraspanin-12; Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also p [...] 9606.ENSP00000222753 HOXA13 388 Homeobox protein Hox-A13; Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior- posterior axis; Belongs to the Abd-B homeobox family 9606.ENSP00000222792 CHN2 468 Beta-chimaerin; GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors 9606.ENSP00000222800 ABHD11 315 Protein ABHD11; Abhydrolase domain containing 11; Belongs to the AB hydrolase superfamily 9606.ENSP00000222803 FKBP14 211 Peptidyl-prolyl cis-trans isomerase FKBP14; PPIases accelerate the folding of proteins during protein synthesis; EF-hand domain containing 9606.ENSP00000222812 STX1A 288 Syntaxin-1A; Plays a role in hormone and neurotransmitter exocytosis (By similarity). Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)- regulation of exocytosis acrosomal reaction in sperm; Syntaxins 9606.ENSP00000222823 NOD1 953 Nucleotide-binding oligomerization domain-containing protein 1; Enhances caspase-9-mediated apoptosis. Induces NF-kappa- B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathway activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Sh [...] 9606.ENSP00000222968 PDAP1 181 28 kDa heat- and acid-stable phosphoprotein; Enhances PDGFA-stimulated cell growth in fibroblasts, but inhibits the mitogenic effect of PDGFB 9606.ENSP00000222982 CYP3A5 502 Cytochrome P450 3A5; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics 9606.ENSP00000222990 SNX8 465 Sorting nexin-8; May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network; PX-BAR domain containing 9606.ENSP00000223023 WASL 505 Neural Wiskott-Aldrich syndrome protein; Regulates actin polymerization by stimulating the actin- nucleating activity of the Arp2/3 complex. Involved in mitosis and cytokinesis, via its role in the regulation of actin polymerization. Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression. Plays a role in dendrite spine morphogenesis (By similarity); Wiskott-Aldrich Syndrome protein family 9606.ENSP00000223026 HYAL4 481 Hyaluronidase-4; Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide 9606.ENSP00000223029 AIMP2 320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2; Required for assembly and stability of the aminoacyl- tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor 9606.ENSP00000223061 PCOLCE 449 Procollagen C-endopeptidase enhancer 1; Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity 9606.ENSP00000223073 RBM28 759 RNA-binding protein 28; Nucleolar component of the spliceosomal ribonucleoprotein complexes; RNA binding motif containing 9606.ENSP00000223095 SERPINE1 402 Plasminogen activator inhibitor 1; Serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis; Serpin peptidase inhibitors 9606.ENSP00000223114 MOGAT3 341 2-acylglycerol O-acyltransferase 3; Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes 9606.ENSP00000223127 PLOD3 738 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links 9606.ENSP00000223129 RPA3 121 Replication protein A 14 kDa subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP [...] 9606.ENSP00000223136 FIS1 152 Mitochondrial fission 1 protein; Involved in the fragmentation of the mitochondrial network and its perinuclear clustering. Plays a minor role in the recruitment and association of the fission mediator dynamin- related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission; Belongs to the FIS1 family 9606.ENSP00000223145 GLCCI1 547 Glucocorticoid-induced transcript 1 protein; Glucocorticoid induced 1 9606.ENSP00000223167 MYL10 226 Myosin regulatory light chain 10; EF-hand domain containing 9606.ENSP00000223208 CEP41 373 Centrosomal protein of 41 kDa; Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium; Belongs to the CEP41 family 9606.ENSP00000223210 ZNF862 1169 Zinc finger protein 862; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000223215 MEST 335 Mesoderm-specific transcript homolog protein; Mesoderm specific transcript; Belongs to the AB hydrolase superfamily 9606.ENSP00000223273 YAE1D1 226 Yae1 domain containing 1 9606.ENSP00000223293 GIMAP2 337 GTPase IMAP family member 2; The heterodimer formed by GIMAP2 and GIMAP7 has GTPase activity. In contrast, GIMAP2 has no GTPase activity by itself 9606.ENSP00000223321 PSMA2 234 Proteasome subunit alpha type-2; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] 9606.ENSP00000223324 MRPL32 188 Mitochondrial ribosomal protein L32; Belongs to the bacterial ribosomal protein bL32 family 9606.ENSP00000223357 AEBP1 1158 Adipocyte enhancer-binding protein 1; May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor; M14 carboxypeptidases 9606.ENSP00000223364 MYL7 175 Myosin regulatory light chain 2, atrial isoform; EF-hand domain containing 9606.ENSP00000223366 GCK 466 Glucokinase; Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage 9606.ENSP00000223369 YKT6 198 Synaptobrevin homolog YKT6; Vesicular soluble NSF attachment protein receptor (v- SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity; SNAREs 9606.ENSP00000223398 CLIP2 1046 CAP-Gly domain-containing linker protein 2; Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity) 9606.ENSP00000223459 ZNF688 276 Zinc finger protein 688; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000223500 CHMP5 219 Charged multivesicular body protein 5; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the [...] 9606.ENSP00000223528 FKTN 461 Fukutin; Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development 9606.ENSP00000223641 SEC61B 96 Protein transport protein Sec61 subunit beta; Necessary for protein translocation in the endoplasmic reticulum; Belongs to the SEC61-beta family 9606.ENSP00000223642 C5 1676 Complement C5; Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled; C3 and PZP like, alpha-2-macroglobulin domain containing 9606.ENSP00000223795 TNFSF8 234 Tumor necrosis factor ligand superfamily member 8; Cytokine that binds to TNFRSF8/CD30. Induces proliferation of T-cells 9606.ENSP00000223862 RLN1 185 Prorelaxin H1; Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix; Belongs to the insulin family 9606.ENSP00000223864 PLGRKT 147 Plasminogen receptor (KT); Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator-dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metallproteinase activation, such as of MMP2 and MMP9 9606.ENSP00000224073 EDF1 148 Endothelial differentiation-related factor 1; Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism; Cilia and flagella associated 9606.ENSP00000224140 SETX 2677 Probable helicase senataxin; Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription. Contributes to the mRNA splicing efficiency and splice site selection. Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA a [...] 9606.ENSP00000224181 C8G 202 Complement component C8 gamma chain; C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol; Complement system 9606.ENSP00000224337 BLNK 456 B-cell linker protein; Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR- media [...] 9606.ENSP00000224356 CYP26A1 497 Cytochrome P450 26A1; Plays a key role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA. Capable of both 4-hydroxylation and 18- hydroxylation. Responsible for generation of several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA and 18-OH-RA; Belongs to the cytochrome P450 family 9606.ENSP00000224652 ATE1 518 Arginyl-tRNA--protein transferase 1; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity) 9606.ENSP00000224807 SFXN3 325 Sideroflexin-3; Potential iron transporter; Sideroflexins 9606.ENSP00000224862 FBXL15 300 F-box/LRR-repeat protein 15; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SMURF1, thereby acting as a positive regulator of the BMP signaling pathway. Required for dorsal/ventral pattern formation and bone mass maintenance. Also mediates ubiquitination of SMURF2 and WWP2; F-box and leucine rich repeat proteins 9606.ENSP00000224950 OBFC1 368 CST complex subunit STN1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...] 9606.ENSP00000225171 DNAJC12 198 DnaJ heat shock protein family member C12 9606.ENSP00000225174 PPIF 207 Peptidyl-prolyl cis-trans isomerase F, mitochondrial; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Involved in regulation of the mitochondrial permeability transition pore (mPTP). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated. In cooperation with mitochondrial TP53 is involved in act [...] 9606.ENSP00000225235 TBC1D12 775 TBC1 domain family member 12; May act as a GTPase-activating protein for Rab family protein(s) 9606.ENSP00000225275 MPO 745 Myeloperoxidase; Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity; Belongs to the peroxidase family. XPO subfamily 9606.ENSP00000225276 ST6GALNAC2 374 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2; Sialyltransferases 9606.ENSP00000225296 DHX33 707 Putative ATP-dependent RNA helicase DHX33; Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment. Important element of nucleolar organization; DEAH-box helicases 9606.ENSP00000225298 UTP18 556 U3 small nucleolar RNA-associated protein 18 homolog; Involved in nucleolar processing of pre-18S ribosomal RNA; UTPb subcomplex 9606.ENSP00000225328 P2RX5 422 P2X purinoceptor 5; Receptor for ATP that acts as a ligand-gated ion channel; Minor histocompatibility antigens 9606.ENSP00000225371 EPX 715 Eosinophil peroxidase; Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis; Belongs to the peroxidase family. XPO subfamily 9606.ENSP00000225387 CRYBA1 215 Beta-crystallin A3; Crystallins are the dominant structural components of the vertebrate eye lens 9606.ENSP00000225388 NUFIP2 695 Nuclear fragile X mental retardation-interacting protein 2; Binds RNA 9606.ENSP00000225430 RPL19 196 Ribosomal protein L19; Belongs to the eukaryotic ribosomal protein eL19 family 9606.ENSP00000225474 CSF3 207 Granulocyte colony-stimulating factor; Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. This CSF induces granulocytes; Belongs to the IL-6 superfamily 9606.ENSP00000225504 SUPT4H1 117 Transcription elongation factor SPT4; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote paus [...] 9606.ENSP00000225512 WNT3 355 Proto-oncogene Wnt-3; Ligand for members of the frizzled family of seven transmembrane receptors. Wnt-3 and Wnt-3a play distinct roles in cell-cell signaling during morphogenesis of the developing neural tube (By similarity) 9606.ENSP00000225519 SHPK 478 Sedoheptulokinase; Acts as a modulator of macrophage activation through control of glucose metabolism 9606.ENSP00000225525 TAX1BP3 124 Tax1-binding protein 3; May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6 9606.ENSP00000225538 P2RX1 399 P2X purinoceptor 1; Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity); Purinergic receptors P2X 9606.ENSP00000225550 KRT37 449 Keratin, type I cuticular Ha7; Keratins, type I; Belongs to the intermediate filament family 9606.ENSP00000225567 GOSR2 213 Golgi SNAP receptor complex member 2; Involved in transport of proteins from the cis/medial- Golgi to the trans-Golgi network; Belongs to the GOSR2 family 9606.ENSP00000225573 PNPO 261 Pyridoxine-5'-phosphate oxidase; Catalyzes the oxidation of either pyridoxine 5'- phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP) 9606.ENSP00000225576 TVP23C 276 Trans-golgi network vesicle protein 23 homolog C; Belongs to the TVP23 family 9606.ENSP00000225577 RPS6KB1 525 Ribosomal protein S6 kinase beta-1; Serine/threonine-protein kinase that acts downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression. Regulates protein synthesis through phosphorylation of EIF4B, RPS6 and EEF2K, and contributes to cell survival by repressing the pro-apoptotic function of BAD. Under conditions of nutrient depletion, the inactive form associates with the EIF3 translation initiation complex. Upon mitogenic stimulation, phosphorylation by the mammalian target of rapamycin complex 1 (mTO [...] 9606.ENSP00000225609 PIGL 252 N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase; Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol; Belongs to the PIGL family 9606.ENSP00000225655 PFN1 140 Profilin-1; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR 9606.ENSP00000225665 SLC25A11 314 Mitochondrial 2-oxoglutarate/malate carrier protein; Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism (By similarity). Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae. Involved in the regulation of apoptosis (By similarity); Solute carriers 9606.ENSP00000225688 RASD1 281 Dexamethasone-induced Ras-related protein 1; Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity); Belongs to the small GTPase superfamily. RasD family 9606.ENSP00000225698 C1QBP 282 Complement component 1 Q subcomponent-binding protein, mitochondrial; Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular "heads" of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex [...] 9606.ENSP00000225719 CPD 1380 M14 carboxypeptidases 9606.ENSP00000225724 GOSR1 250 Golgi SNAP receptor complex member 1; Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide- sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an impor [...] 9606.ENSP00000225726 CCDC47 483 Coiled-coil domain containing 47 9606.ENSP00000225728 MED31 131 Mediator of RNA polymerase II transcription subunit 31; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000225729 DRG2 364 Developmentally-regulated GTP-binding protein 2; May play a role in cell proliferation, differentiation and death; Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family 9606.ENSP00000225737 AKAP10 662 A-kinase anchor protein 10, mitochondrial; Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain [...] 9606.ENSP00000225777 SYNGR2 224 Synaptogyrin-2; May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane; Belongs to the synaptogyrin family 9606.ENSP00000225792 DDX5 614 Probable ATP-dependent RNA helicase DDX5; Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 tr [...] 9606.ENSP00000225823 ASIC2 563 Acid sensing ion channel subunit 2 9606.ENSP00000225831 CCL2 99 C-C motif chemokine 2; Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000225842 CCL1 96 C-C motif chemokine 1; Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000225844 CCL13 98 C-C motif chemokine 13; Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens; Chemokine ligands 9606.ENSP00000225899 KRT32 448 Keratin, type I cuticular Ha2; Keratins, type I; Belongs to the intermediate filament family 9606.ENSP00000225916 KAT2A 837 Histone acetyltransferase KAT2A; Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Acetylation of histones gives a specific tag for epigenetic transcription activation. Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles. Also acetylates non- histone proteins, such as CEBPB. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may [...] 9606.ENSP00000225927 NAGLU 743 Alpha-N-acetylglucosaminidase; Involved in the degradation of heparan sulfate 9606.ENSP00000225941 ABI3 366 ABI gene family member 3; May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility; Belongs to the ABI family 9606.ENSP00000225964 COL1A1 1464 Collagen alpha-1(I) chain; Type I collagen is a member of group I collagen (fibrillar forming collagen); Collagens 9606.ENSP00000225969 MRPL27 148 Mitochondrial ribosomal protein L27 9606.ENSP00000225972 LRRC59 307 Leucine-rich repeat-containing protein 59; Required for nuclear import of FGF1, but not that of FGF2. Might regulate nuclear import of exogenous FGF1 by facilitating interaction with the nuclear import machinery and by transporting cytosolic FGF1 to, and possibly through, the nuclear pores 9606.ENSP00000225983 HDAC5 1123 Histone deacetylase 5; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Invo [...] 9606.ENSP00000226004 DUSP3 185 Dual specificity protein phosphatase 3; Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000226021 CACNG1 222 Voltage-dependent calcium channel gamma-1 subunit; This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex; Calcium channel auxiliary gamma subunits 9606.ENSP00000226067 HLF 295 Hepatic leukemia factor; HLF, PAR bZIP transcription factor; Belongs to the bZIP family. PAR subfamily 9606.ENSP00000226091 EFNB3 340 Ephrin-B3; Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. May play a pivotal role in forebrain function. Binds to, an [...] 9606.ENSP00000226105 RANGRF 186 Ran guanine nucleotide release factor; May regulate the intracellular trafficking of RAN. In cardiac cells seems to regulate the cell surface localization of SCN5A 9606.ENSP00000226193 RCVRN 200 Recoverin; Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse; EF-hand domain containing 9606.ENSP00000226207 MYH1 1939 Myosin-1; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000226218 VTN 478 Vitronectin; Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway; Endogenous ligands 9606.ENSP00000226225 TNFAIP1 316 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA-dependent DNA polymerase delta activity; Belongs to the BACURD family 9606.ENSP00000226230 TMEM97 176 Sigma intracellular receptor 2; Intracellular orphan receptor that binds numerous drugs and which is highly expressed in various proliferating cancer cells. Corresponds to the sigma-2 receptor, which is thought to play important role in regulating cell survival, morphology and differentiation. Under investigation for its potential diagnostic and therapeutic uses. May play a role as a regulator of cellular cholesterol homeostasis. May function as sterol isomerase. May alter the activity of some cytochrome P450 proteins 9606.ENSP00000226247 FOXN1 648 Forkhead box protein N1; Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, includin [...] 9606.ENSP00000226253 ALDOC 364 Aldolase, fructose-bisphosphate C 9606.ENSP00000226279 CD38 300 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1; Synthesizes the second messagers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system; Belongs to the ADP-ribosyl cyclase family 9606.ENSP00000226284 IBSP 317 Bone sialoprotein 2; Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Promotes Arg-Gly-Asp-dependent cell attachment; SIBLING family 9606.ENSP00000226299 LAP3 519 Cytosol aminopeptidase; Presumably involved in the processing and regular turnover of intracellular proteins. Catalyzes the removal of unsubstituted N-terminal amino acids from various peptides; Belongs to the peptidase M17 family 9606.ENSP00000226317 CXCL6 114 C-X-C motif chemokine 6; Chemotactic for neutrophil granulocytes. Signals through binding and activation of its receptors (CXCR1 and CXCR2). In addition to its chemotactic and angiogenic properties, it has strong antibacterial activity against Gram-positive and Gram- negative bacteria (90-fold-higher when compared to CXCL5 and CXCL7); Chemokine ligands 9606.ENSP00000226319 JADE1 842 Protein Jade-1; Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator, it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Negatively regulates canonical Wnt signaling; at least in part, cooperates with NPHP4 in this function; PHD finger proteins 9606.ENSP00000226355 AFM 599 Afamin; Vitamin E binding protein. May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient. May be involved in the regulation and transport of vitamin E at the blood-brain barrier; Belongs to the ALB/AFP/VDB family 9606.ENSP00000226382 PHOX2B 314 Paired mesoderm homeobox protein 2B; Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum- response element; Belongs to the paired homeobox family 9606.ENSP00000226413 GNRHR 328 Gonadotropin-releasing hormone receptor; Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle- stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol- calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling 9606.ENSP00000226432 CWH43 699 PGAP2-interacting protein; Involved in lipid remodeling during GPI-anchor maturation 9606.ENSP00000226444 SULT1E1 294 Estrogen sulfotransferase; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of estradiol and estrone. May play a role in the regulation of estrogen receptor activity by metabolizing free estradiol. Maximally sulfates beta-estradiol and estrone at concentrations of 20 nM. Also sulfates dehydroepiandrosterone, pregnenolone, ethinylestradiol, equalenin, diethylstilbesterol and 1-naphthol, at significantly higher concentrations; however, cortisol, testosterone and dopamine are not sulfated 9606.ENSP00000226460 SMR3A 134 Submaxillary gland androgen-regulated protein 3A; May play a role in protection or detoxification 9606.ENSP00000226524 PF4V1 104 Platelet factor 4 variant; Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro) 9606.ENSP00000226574 NFKB1 969 Nuclear factor NF-kappa-B p105 subunit; NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimer [...] 9606.ENSP00000226578 MANBA 879 Beta-mannosidase; Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides; Mannosidases type beta 9606.ENSP00000226730 IL2 153 Interleukin-2; Produced by T-cells in response to antigenic or mitogenic stimulation, this protein is required for T-cell proliferation and other activities crucial to regulation of the immune response. Can stimulate B-cells, monocytes, lymphokine- activated killer cells, natural killer cells, and glioma cells; Interleukins 9606.ENSP00000226760 WFS1 890 Wolframin; Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store; Deafness associated genes 9606.ENSP00000226796 GAR1 217 H/ACA ribonucleoprotein complex subunit 1; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...] 9606.ENSP00000226798 FRG1 258 Protein FRG1; Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N- methyltransferase KMT5B; Belongs to the FRG1 family 9606.ENSP00000226951 CLNK 428 Cytokine-dependent hematopoietic cell linker; Plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation. Involved in phosphorylation of LAT (By similarity); SH2 domain containing 9606.ENSP00000227065 FAM149A 482 Protein FAM149A; Family with sequence similarity 149 member A 9606.ENSP00000227155 CD82 267 CD82 antigen; Associates with CD4 or CD8 and delivers costimulatory signals for the TCR/CD3 pathway; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000227163 SPI1 271 Transcription factor PU.1; Binds to the PU-box, a purine-rich DNA sequence (5'- GAGGAA-3') that can act as a lymphoid-specific enhancer. This protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or B- cells. Also binds RNA and may modulate pre-mRNA splicing (By similarity); Belongs to the ETS family 9606.ENSP00000227266 CTSC 463 Dipeptidyl peptidase 1; Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII 9606.ENSP00000227322 ZPR1 459 Zinc finger protein ZPR1; Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death; Belongs to the ZPR1 family 9606.ENSP00000227348 CRTAM 393 Cytotoxic and regulatory T-cell molecule; Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo; Belongs to the nectin family 9606.ENSP00000227349 C11orf63 778 Jhy protein homolog; Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces 9606.ENSP00000227451 DTX4 619 E3 ubiquitin-protein ligase DTX4; Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations (By similarity). Functions as a ubiquitin ligase protein in vivo, mediating 'Lys48'-linked polyubiquitination and promoting degradation of TBK1, targeting to TBK1 requires interaction with NLRP4; Ring finger proteins 9606.ENSP00000227471 UNC93B1 597 Protein unc-93 homolog B1; Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B- cells removal; Belongs to the unc-93 family 9606.ENSP00000227474 PUS3 481 tRNA pseudouridine(38/39) synthase; Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs; Belongs to the tRNA pseudouridine synthase TruA family 9606.ENSP00000227507 CCND1 295 G1/S-specific cyclin-D1; Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. A [...] 9606.ENSP00000227520 CCDC86 360 Coiled-coil domain containing 86 9606.ENSP00000227524 PRPF19 504 Pre-mRNA-processing factor 19; Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates 'Lys-63'-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex. Recruite [...] 9606.ENSP00000227525 TMEM109 243 Transmembrane protein 109; May mediate cellular response to DNA damage by protecting against ultraviolet C-induced cell death. Can form voltage-gated calcium and potassium channels in vitro (By similarity) 9606.ENSP00000227638 PANX1 426 Pannexin-1; Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis; Pannexins 9606.ENSP00000227667 APOC3 99 Apolipoprotein C-III; Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma. Plays a multifaceted role in triglyceride homeostasis. Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors. Formed of several curved helices connected via semiflexible hinges, so that it can wrap tigh [...] 9606.ENSP00000227752 IL10RA 578 Interleukin-10 receptor subunit alpha; Receptor for IL10; binds IL10 with a high affinity; CD molecules 9606.ENSP00000227756 GALNT18 607 Polypeptide N-acetylgalactosaminyltransferase 18; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily 9606.ENSP00000227868 PDHX 501 Pyruvate dehydrogenase protein X component, mitochondrial; Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex 9606.ENSP00000227880 SLC15A3 581 Solute carrier family 15 member 3; Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides (By similarity); Solute carriers 9606.ENSP00000227918 SCGB2A2 93 Mammaglobin-A; Secretoglobin family 2A member 2; Secretoglobins 9606.ENSP00000228027 DGAT2 388 Diacylglycerol O-acyltransferase 2; Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT); Diacylglycerol O-acyltransferase 2 family 9606.ENSP00000228136 C11orf58 183 Small acidic protein; Chromosome 11 open reading frame 58; Belongs to the SMAP family 9606.ENSP00000228251 YBX3 372 Y-box-binding protein 3; Binds to the GM-CSF promoter. Seems to act as a repressor. Binds also to full-length mRNA and to short RNA sequences containing the consensus site 5'-UCCAUCA-3'. May have a role in translation repression (By similarity); Y box binding proteins 9606.ENSP00000228280 KITLG 273 Kit ligand; Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signaling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK [...] 9606.ENSP00000228284 SART3 963 Squamous cell carcinoma antigen recognized by T-cells 3; U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation. Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites. May also function as a substrate-targeting factor [...] 9606.ENSP00000228318 SLC25A3 362 Phosphate carrier protein, mitochondrial; Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP); Solute carriers 9606.ENSP00000228347 POLR3B 1133 DNA-directed RNA polymerase III subunit RPC2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the clef [...] 9606.ENSP00000228434 CD69 199 Early activation antigen CD69; Involved in lymphocyte proliferation and functions as a signal transmitting receptor in lymphocytes, natural killer (NK) cells, and platelets; C-type lectin domain containing 9606.ENSP00000228437 PRDM4 801 PR domain zinc finger protein 4; May function as a transcription factor involved in cell differentiation; Belongs to the class V-like SAM-binding methyltransferase superfamily 9606.ENSP00000228438 CLEC2B 149 C-type lectin domain family 2 member B 9606.ENSP00000228463 SELPLG 428 P-selectin glycoprotein ligand 1; A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. Critical for the initial leukocyte capture; CD molecules 9606.ENSP00000228468 ASIC1 574 Acid-sensing ion channel 1; Isoform 2 and isoform 3 function as proton-gated sodium channels; they are activated by a drop of the extracellular pH and then become rapidly desensitized. The channel generates a biphasic current with a fast inactivating and a slow sustained phase. Has high selectivity for sodium ions and can also transport lithium ions with high efficiency. Isoform 2 can also transport potassium, but with lower efficiency. It is nearly impermeable to the larger rubidium and cesium ions. Isoform 3 can also transport calcium ions. Mediates glutamate-independent Ca(2+) entry [...] 9606.ENSP00000228476 DAO 347 D-amino-acid oxidase; Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D- amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids; Belongs to the DAMOX/DASOX family 9606.ENSP00000228495 KCTD10 313 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(BACURD3) E3 ubiquitin ligase complex mediates the ubiquitination of target proteins, leading to their degradation by the proteasome (By similarity) 9606.ENSP00000228506 MLEC 292 Malectin; Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N-glycosylation (By similarity); Oligosaccharyltransferase complex subunits 9606.ENSP00000228515 CSRNP2 543 Cysteine/serine-rich nuclear protein 2; Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May play a role in apoptosis; Protein phosphatase 1 regulatory subunits 9606.ENSP00000228534 IL23A 189 Interleukin-23 subunit alpha; Associates with IL12B to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak- Stat signaling cascade, stimulates memory rather than naive T- cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for [...] 9606.ENSP00000228567 SYT10 523 Synaptotagmin-10; Ca(2+) sensor specifically required for the Ca(2+)- dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb. Exocytosis of IGF1 is required for sensory perception of smell. Not involved in Ca(2+)-dependent synaptic vesicle exocytosis (By similarity). Acts through Ca(2+) and phospholipid binding to the C2 domain: Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity); Synaptotagmins 9606.ENSP00000228606 CYP27B1 508 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3), and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1- alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is also active with 25-hydroxy-24-oxo-vitamin D3. Plays an important role in normal bone growth, calcium metabolism, and tissue differentiation; Cytochrome P450 family 27 9606.ENSP00000228641 MYF6 242 Myogenic factor 6; Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein; Basic helix-loop-helix proteins 9606.ENSP00000228644 MYF5 255 Myogenic factor 5; Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein; Basic helix-loop-helix proteins 9606.ENSP00000228682 GLI1 1106 Zinc finger protein GLI1; Acts as a transcriptional activator. Binds to the DNA consensus sequence 5'- GACCACCCA-3'. May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling. Plays a role in cell proliferation and differentiation via its role in SHH signaling (Probable); Zinc fingers C2H2-type 9606.ENSP00000228705 PPM1H 514 Protein phosphatase 1H; Dephosphorylates CDKN1B at 'Thr-187', thus removing a signal for proteasomal degradation; Belongs to the PP2C family 9606.ENSP00000228740 LTA4H 611 Leukotriene A-4 hydrolase; Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity; M1 metallopeptidases 9606.ENSP00000228741 ELK3 407 ETS domain-containing protein Elk-3; May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element 9606.ENSP00000228799 ITFG2 447 KICSTOR complex protein ITFG2; As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose 9606.ENSP00000228811 PRR4 134 Proline-rich protein 4; Proline rich 4 9606.ENSP00000228820 PARP11 338 Poly [ADP-ribose] polymerase 11; Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity). In vitro, exhibits mono(ADP-ribosyl) transferase activity; Poly(ADP-ribose) polymerases 9606.ENSP00000228825 ARPC3 178 Actin-related protein 2/3 complex subunit 3; Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks; Belongs to the ARPC3 family 9606.ENSP00000228837 FGF6 208 Fibroblast growth factor 6; Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration; Belongs to the heparin-binding growth factors family 9606.ENSP00000228841 MYL2 166 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform; Contractile protein that plays a role in heart development and function (By similarity). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin [...] 9606.ENSP00000228843 RAD51AP1 352 RAD51-associated protein 1; May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. Functionally cooperates with PALB2 in promoting of D-loop formation by RAD51. Binds to single and double stranded DNA, and is capable of aggregating DNA. Also binds RNA 9606.ENSP00000228850 AKAP3 853 A-kinase anchor protein 3; May function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction; A-kinase anchoring proteins 9606.ENSP00000228865 CREBL2 120 cAMP-responsive element-binding protein-like 2; Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor; Belongs to the bZIP family. ATF subfamily 9606.ENSP00000228872 CDKN1B 198 Cyclin-dependent kinase inhibitor 1B; Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA. Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A- CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichometry; Belongs to the CDI family 9606.ENSP00000228887 GPRC5D 345 G protein-coupled receptor class C group 5 member D 9606.ENSP00000228918 LTBR 435 Tumor necrosis factor receptor superfamily member 3; Receptor for the heterotrimeric lymphotoxin containing LTA and LTB, and for TNFS14/LIGHT. Promotes apoptosis via TRAF3 and TRAF5. May play a role in the development of lymphoid organs; Tumor necrosis factor receptor superfamily 9606.ENSP00000228928 OAS3 1087 2'-5'-oligoadenylate synthase 3; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2'-5'- oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhib [...] 9606.ENSP00000228936 ART4 314 ADP-ribosyltransferase 4; Belongs to the Arg-specific ADP-ribosyltransferase family 9606.ENSP00000228938 MGP 128 Matrix Gla protein; Gla domain containing 9606.ENSP00000228945 ARHGDIB 201 Rho GDP-dissociation inhibitor 2; Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Regulates reorganization of the actin cytoskeleton mediated by Rho family members 9606.ENSP00000229002 RERGL 205 Ras-related and estrogen-regulated growth inhibitor-like protein; Binds GDP/GTP and may possess intrinsic GTPase activity; RAS type GTPase family 9606.ENSP00000229030 FZD10 581 Frizzled-10; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to [...] 9606.ENSP00000229134 IL26 171 Interleukin-26; May play a role in local mechanisms of mucosal immunity and seems to have a proinflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF-alpha and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin; Interleukins 9606.ENSP00000229135 IFNG 166 Interferon gamma; Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons; Belongs to the type II (or gamma) interferon family 9606.ENSP00000229179 NUP107 925 Nuclear pore complex protein Nup107; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. Required for the assembly of peripheral proteins into the NPC. May anchor NUP62 to the NPC; Belongs to the nucleoporin Nup84/Nup107 family 9606.ENSP00000229195 CNOT2 540 CCR4-NOT transcription complex subunit 2; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Required for the CCR4-NOT complex structural integrity. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may sp [...] 9606.ENSP00000229214 KRR1 381 KRR1 small subunit processome component homolog; Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity) 9606.ENSP00000229238 MRPL51 128 Mitochondrial ribosomal protein L51; Belongs to the mitochondrion-specific ribosomal protein mL51 family 9606.ENSP00000229239 GAPDH 335 Glyceraldehyde-3-phosphate dehydrogenase; Has both glyceraldehyde-3-phosphate dehydrogenase and nitrosylase activities, thereby playing a role in glycolysis and nuclear functions, respectively. Participates in nuclear events including transcription, RNA transport, DNA replication and apoptosis. Nuclear functions are probably due to the nitrosylase activity that mediates cysteine S-nitrosylation of nuclear target proteins such as SIRT1, HDAC2 and PRKDC. Modulates the organization and assembly of the cytoskeleton. Facilitates the CHP1-dependent microtubule and membrane associations throu [...] 9606.ENSP00000229243 ACRBP 543 Acrosin-binding protein; May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its association with proacrosin; Armadillo-like helical domain containing 9606.ENSP00000229264 GNB3 340 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000229266 CHPT1 406 Cholinephosphotransferase 1; Catalyzes phosphatidylcholine biosynthesis from CDP- choline. It thereby plays a central role in the formation and maintenance of vesicular membranes 9606.ENSP00000229268 USP5 858 Ubiquitin carboxyl-terminal hydrolase 5; Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys-48'-linked polyubiquitin disassembly. Binds linear and 'Lys- 63'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of p53/TP53 and an increase in p53/TP53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated p53/TP53 but not with MDM2 for proteasomal recognition; Ubiquitin specific peptidases 9606.ENSP00000229270 TPI1 286 Triosephosphate isomerase 1; Belongs to the triosephosphate isomerase family 9606.ENSP00000229281 C12orf57 126 Protein C10; In brain, may be required for corpus callusum development; Belongs to the UPF0456 family 9606.ENSP00000229304 APOBEC1 236 C->U-editing enzyme APOBEC-1; Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation; Belongs to the cytidine and deoxycytidylate deaminase family 9606.ENSP00000229307 NANOG 305 Homeobox protein NANOG; Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal. Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5'-TAAT[GT][GT] [...] 9606.ENSP00000229314 GOLT1B 138 Vesicle transport protein GOT1B; May be involved in fusion of ER-derived transport vesicles with the Golgi complex 9606.ENSP00000229328 PRKAB1 270 5'-AMP-activated protein kinase subunit beta-1; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a reg [...] 9606.ENSP00000229329 CMAS 434 N-acylneuraminate cytidylyltransferase; Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN) 9606.ENSP00000229330 HCFC2 792 Host cell factor C2 9606.ENSP00000229332 CLEC4A 237 C-type lectin domain family 4 member A; May be involved in regulating immune reactivity. May play a role in modulating dendritic cells (DC) differentiation and/or maturation. May be involved via its ITIM motif (immunoreceptor tyrosine-based inhibitory motifs) in the inhibition of B-cell-receptor-mediated calcium mobilization and protein tyrosine phosphorylation; C-type lectin domain containing 9606.ENSP00000229335 AICDA 198 Single-stranded DNA cytosine deaminase; Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation 9606.ENSP00000229340 RAB35 201 Ras-related protein Rab-35; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in the process of endocytosis and is an essential rate-limiting regulator of the fast recycling pathway back to the plasma membrane. During cytokinesis, required f [...] 9606.ENSP00000229379 COX6A1 109 Cytochrome c oxidase subunit 6A1, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000229390 SRSF9 221 Serine/arginine-rich splicing factor 9; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10; Belongs to the splicing factor SR family 9606.ENSP00000229395 FGFR1OP2 253 FGFR1 oncogene partner 2; May be involved in wound healing pathway; Belongs to the SIKE family 9606.ENSP00000229402 KLRB1 225 Killer cell lectin-like receptor subfamily B member 1; Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediate [...] 9606.ENSP00000229416 GCLC 637 Glutamate-cysteine ligase catalytic subunit 9606.ENSP00000229447 IYD 293 Iodotyrosine deiodinase 1; Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine; Belongs to the nitroreductase family 9606.ENSP00000229554 RSPH4A 716 Radial spoke head protein 4 homolog A; Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules 9606.ENSP00000229583 ADTRP 248 Androgen-dependent TFPI-regulating protein; Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro) 9606.ENSP00000229595 ASF1A 204 Histone chaperone ASF1A; Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit; Belongs to the ASF1 family 9606.ENSP00000229633 HINT3 182 Histidine triad nucleotide-binding protein 3; Hydrolyzes phosphoramidate and acyl-adenylate substrates; Belongs to the HINT family 9606.ENSP00000229708 ULBP1 244 UL16-binding protein 1; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity; Belongs to the MHC class I family 9606.ENSP00000229729 SLC44A4 710 Choline transporter-like protein 4; Choline transporter that plays a role in the choline- acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota- generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis; Deafness associated genes 9606.ENSP00000229758 FBXO5 447 F-box only protein 5; Regulates progression through early mitosis by inhibiting the anaphase promoting complex/cyclosome (APC). Binds to the APC activators CDC20 and FZR1/CDH1 to prevent APC activation. Can also bind directly to the APC to inhibit substrate-binding; F-boxes other 9606.ENSP00000229769 FANCE 536 Fanconi anemia group E protein; As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2 9606.ENSP00000229771 TULP1 542 Tubby-related protein 1; Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vit [...] 9606.ENSP00000229795 MAPK14 360 Mitogen-activated protein kinase 14; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are a [...] 9606.ENSP00000229812 STK38 465 Serine/threonine-protein kinase 38; Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family 9606.ENSP00000229829 HLA-DOA 250 HLA class II histocompatibility antigen, DO alpha chain; Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM; C1-set domain containing 9606.ENSP00000229903 SAYSD1 183 SAYSVFN motif domain containing 1 9606.ENSP00000229922 CAP2 477 Adenylyl cyclase-associated protein 2; May have a regulatory bifunctional role; Belongs to the CAP family 9606.ENSP00000229955 GPR63 419 Probable G-protein coupled receptor 63; Orphan receptor. May play a role in brain function; G protein-coupled receptors, Class A orphans 9606.ENSP00000230036 GPLD1 840 Phosphatidylinositol-glycan-specific phospholipase D; This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane 9606.ENSP00000230048 ACOT13 140 Acyl-coenzyme A thioesterase 13; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3- hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA (in vitro). May play a role in controlling adaptive thermogenesis (By similarity) 9606.ENSP00000230050 RPS12 132 Ribosomal protein S12 9606.ENSP00000230053 B3GAT2 323 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins; Beta-1,3-glucuronyltransferases 9606.ENSP00000230056 GMNN 209 Geminin; Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle; Belongs to the geminin family 9606.ENSP00000230085 SNX3 162 Sorting nexin-3; Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Also can bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediat [...] 9606.ENSP00000230122 ZBTB24 697 Zinc finger and BTB domain-containing protein 24; May be involved in BMP2-induced transcription; BTB domain containing 9606.ENSP00000230124 FIG4 907 Polyphosphoinositide phosphatase; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes 9606.ENSP00000230256 UNC93A 457 Unc-93 homolog A; Belongs to the unc-93 family 9606.ENSP00000230301 C6orf118 469 Uncharacterized protein C6orf118; Chromosome 6 open reading frame 118 9606.ENSP00000230321 MDFI 246 MyoD family inhibitor; Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the le [...] 9606.ENSP00000230340 BYSL 437 Bystin; Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos; Belongs to the bystin family 9606.ENSP00000230361 GUCA1B 200 Guanylyl cyclase-activating protein 2; Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure; EF-hand domain containing 9606.ENSP00000230381 PRPH2 346 Peripherin-2; May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis; Belongs to the PRPH2/ROM1 family 9606.ENSP00000230431 DNPH1 174 2'-deoxynucleoside 5'-phosphate N-hydrolase 1; Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5- phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'- monophosphates containing purine bases are preferred to those containing pyrimidine bases 9606.ENSP00000230449 EXOC2 924 Exocyst complex component 2; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane; Belongs to the SEC5 family 9606.ENSP00000230461 TMEM30A 361 Cell cycle control protein 50A; Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:TMEM30A flippase complex. [...] 9606.ENSP00000230538 LAMA4 1823 Laminin subunit alpha-4; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000230582 PRSS16 514 Thymus-specific serine protease; Protease that may play a role in T-cell development; Belongs to the peptidase S28 family 9606.ENSP00000230588 MEP1A 746 Meprin A subunit alpha; Belongs to the peptidase M12A family 9606.ENSP00000230640 SKIV2L2 1042 Superkiller viralicidic activity 2-like 2; Component of exosome targeting complexes. Subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor SKIV2L2/MTR4, which links to RNA-binding protein ada [...] 9606.ENSP00000230658 ISL1 349 Insulin gene enhancer protein ISL-1; DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1. Binds to insulin gene enhancer sequences. Essential for [...] 9606.ENSP00000230671 SLC6A7 636 Sodium-dependent proline transporter; Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals; Solute carriers 9606.ENSP00000230732 POU4F3 338 POU domain, class 4, transcription factor 3; Acts as a transcriptional activator. Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity); Belongs to the POU transcription factor family. Class- 4 subfamily 9606.ENSP00000230771 HARS2 506 Probable histidine--tRNA ligase, mitochondrial; histidyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class II 9606.ENSP00000230792 NUDT12 462 Peroxisomal NADH pyrophosphatase NUDT12; Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle; Belongs to the Nudix hydrolase family. NudC subfamily 9606.ENSP00000230859 PAPD7 542 Non-canonical poly(A) RNA polymerase PAPD7; Catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post- transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Has no terminal uridylyltransferase activity, and does not play a role in replication-dependent histone mRNA degradation via uridylation; Belongs to the DNA polymerase type-B-like family 9606.ENSP00000230895 DAP 102 Death-associated protein 1; Negative regulator of autophagy. Involved in mediating interferon-gamma-induced cell death 9606.ENSP00000230990 HBEGF 208 Proheparin-binding EGF-like growth factor; Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor 9606.ENSP00000231004 LOX 417 Protein-lysine 6-oxidase; Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity); Belongs to the lysyl oxidase family 9606.ENSP00000231009 GZMK 264 Granzyme K; Belongs to the peptidase S1 family. Granzyme subfamily 9606.ENSP00000231021 CDH9 789 Cadherin-9; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000231061 SPARC 303 SPARC; Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity; SPARC family 9606.ENSP00000231121 HAND1 215 Heart- and neural crest derivatives-expressed protein 1; Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'- NRTCTG-3' (non-canonical E-box) (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000231130 PCDHB3 796 Protocadherin beta-3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000231134 PCDHB5 795 Protocadherin beta-5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000231136 PCDHB6 794 Protocadherin beta-6; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000231137 PCDHB7 793 Protocadherin beta-7; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000231173 PCDHB15 787 Protocadherin beta-15; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000231188 GRM6 877 Metabotropic glutamate receptor 6; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity (By similarity). Signaling stimulates TRPM1 channel activity and Ca(2+) uptake. Required for normal vision; Glutamate metabotropic receptors 9606.ENSP00000231198 THG1L 298 Probable tRNA(His) guanylyltransferase; Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis 9606.ENSP00000231228 IL12B 328 Interleukin-12 subunit beta; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine- activated killer cells, and stimulate the production of IFN-gamma by resting PBMC; Belongs to the type I cytokine receptor family. Type 3 subfamily 9606.ENSP00000231238 TTC1 292 Tetratricopeptide repeat domain containing 9606.ENSP00000231368 LNPEP 1025 Leucyl-cystinyl aminopeptidase; Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain; Aminopeptidases 9606.ENSP00000231420 AGXT2 514 Alanine--glyoxylate aminotransferase 2, mitochondrial; Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000231449 IL4 153 Interleukin-4; Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. Positively regulates IL31RA expression in macrophages (By similarity); Interleukins 9606.ENSP00000231454 IL5 134 Interleukin-5; Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells; Belongs to the IL-5 family 9606.ENSP00000231461 ST8SIA4 359 CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells; Sialyltransferases 9606.ENSP00000231484 PCDH12 1184 Protocadherin-12; Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions. Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions. Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity); Non-clustered protocadherins 9606.ENSP00000231487 SKP1 163 S-phase kinase-associated protein 1; Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC [...] 9606.ENSP00000231498 NUP155 1391 Nuclear pore complex protein Nup155; Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport 9606.ENSP00000231509 NR3C1 778 Glucocorticoid receptor; Isoform Alpha-D3: Has lowest transcriptional activation activity of all isoforms created by alternative initiation. Has transcriptional repression activity; Nuclear hormone receptors 9606.ENSP00000231512 C5orf15 265 Keratinocyte-associated transmembrane protein 2; Chromosome 5 open reading frame 15 9606.ENSP00000231524 TRIM23 574 E3 ubiquitin-protein ligase TRIM23; Acts as an E3 ubiquitin-protein ligase. In the presence of the human cytomegalovirus (HCMV) protein UL144, participates in 'Lys-63'-linked auto-ubiquitination of TRAF6 resulting in the virally controlled activation of NF-kappa-B at early time of infection. The C-terminus can act as an allosteric activator of the cholera toxin catalytic subunit; In the C-terminal section; belongs to the small GTPase superfamily. Arf family 9606.ENSP00000231572 RARS 660 Arginine--tRNA ligase, cytoplasmic; Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis. Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000231656 CDX1 265 Homeobox protein CDX-1; Plays a role in transcriptional regulation. Involved in activated KRAS-mediated transcriptional activation of PRKD1 in colorectal cancer (CRC) cells. Binds to the PRKD1 promoter in colorectal cancer (CRC) cells. Could play a role in the terminal differentiation of the intestine; HOXL subclass homeoboxes 9606.ENSP00000231668 BNIP1 271 BCL2/adenovirus E1B 19kDa interacting protein 1; BCL2 homology region 3 only 9606.ENSP00000231706 SLC7A14 771 Probable cationic amino acid transporter; May be involved in arginine transport; Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family 9606.ENSP00000231721 SEMA3G 782 Semaphorin-3G; Has chemorepulsive activities for sympathetic axons. Ligand of NRP2 (By similarity); Immunoglobulin like domain containing 9606.ENSP00000231749 ZMYND10 440 Zinc finger MYND domain-containing protein 10; Required for motile ciliary function. Probably involved in axonemal assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility. May act by indirectly regulating transcription of dynein proteins; Belongs to the ZMYND10 family 9606.ENSP00000231751 LTF 710 Lactotransferrin; Lactoferroxins A, B and C have opioid antagonist activity. Lactoferroxin A shows preference for mu-receptors, while lactoferroxin B and C have somewhat higher degrees of preference for kappa-receptors than for mu-receptors; Transferrins 9606.ENSP00000231790 MLH1 756 DNA mismatch repair protein Mlh1; Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS- heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing [...] 9606.ENSP00000231887 EHHADH 723 Peroxisomal bifunctional enzyme; enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase; In the C-terminal section; belongs to the 3- hydroxyacyl-CoA dehydrogenase family 9606.ENSP00000231948 CRBN 442 Protein cereblon; Substrate recognition component of a DCX (DDB1-CUL4-X- box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2. Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8. May play a role in memory and learning by regulating the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. Binding [...] 9606.ENSP00000232003 HRG 525 Histidine-rich glycoprotein; Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell [...] 9606.ENSP00000232165 UBE3A 875 Ubiquitin-protein ligase E3A; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates. Several substrates have been identified including the RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B. Catalyzes the high-risk human papilloma virus E6-mediated ubiquitination of p53/TP53, contributing to the neoplastic progression of cells infected by these viruses. Additionally, may function as a cellular quality [...] 9606.ENSP00000232217 RBP2 134 Retinol-binding protein 2; Intracellular transport of retinol; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000232219 RBP1 197 Retinol-binding protein 1; Cytoplasmic retinol-binding protein. Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000232375 PFKFB4 469 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4; Synthesis and degradation of fructose 2,6-bisphosphate; In the C-terminal section; belongs to the phosphoglycerate mutase family 9606.ENSP00000232424 HES1 280 Transcription factor HES-1; Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage; Basic helix-loop- [...] 9606.ENSP00000232461 GNAT1 350 Guanine nucleotide-binding protein G(t) subunit alpha-1; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase; Belongs to the G-alpha family. G(i/o/t/z) subfamily 9606.ENSP00000232496 TUSC2 110 Tumor suppressor candidate 2; May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells; Belongs to the TUSC2 family 9606.ENSP00000232501 NPRL2 380 GATOR complex protein NPRL2; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway; Belongs to the NPR2 family 9606.ENSP00000232564 GNB4 340 Guanine nucleotide-binding protein subunit beta-4; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000232603 MORC1 984 MORC family CW-type zinc finger protein 1; Required for spermatogenesis; Zinc fingers CW-type 9606.ENSP00000232607 UMPS 480 Uridine 5'-monophosphate synthase; Uridine monophosphate synthetase; In the C-terminal section; belongs to the OMP decarboxylase family 9606.ENSP00000232744 ABTB1 478 Ankyrin repeat and BTB/POZ domain-containing protein 1; May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes; Ankyrin repeat domain containing 9606.ENSP00000232766 KLHL18 574 Kelch-like protein 18; Kelch like family member 18; BTB domain containing 9606.ENSP00000232888 RRP9 475 U3 small nucleolar RNA-interacting protein 2; Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA; Belongs to the WD repeat RRP9 family 9606.ENSP00000232892 AADAC 399 Arylacetamide deacetylase; Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity; Arylacetamide deacetylase family 9606.ENSP00000232905 EIF1B 113 Eukaryotic translation initiation factor 1b; Probably involved in translation 9606.ENSP00000232974 ZBTB47 747 Zinc finger and BTB domain-containing protein 47; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000232975 TNNC1 161 Troponin C, slow skeletal and cardiac muscles; Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments; EF-hand domain containing 9606.ENSP00000232978 NKTR 1462 NK-tumor recognition protein; Component of a putative tumor-recognition complex. Involved in the function of NK cells; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000233027 NEK4 841 Serine/threonine-protein kinase Nek4; Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage 9606.ENSP00000233047 TMEM159 161 Promethin; Transmembrane protein 159; Belongs to the TMEM159 family 9606.ENSP00000233055 WDFY1 410 WD repeat and FYVE domain-containing protein 1; Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1. Promotes TLR3/4 ligand-induced activation of transcription factors IRF3 and NF-kappa-B, as well as the production of IFN-beta and inflammatory cytokines; WD repeat domain containing 9606.ENSP00000233057 EIF2AK2 551 Interferon-induced, double-stranded RNA-activated protein kinase; IFN-induced dsRNA-dependent serine/threonine-protein kinase which plays a key role in the innate immune response to viral infection and is also involved in the regulation of signal transduction, apoptosis, cell proliferation and differentiation. Exerts its antiviral activity on a wide range of DNA and RNA viruses including hepatitis C virus (HCV), hepatitis B virus (HBV), measles virus (MV) and herpes simplex virus 1 (HHV-1). Inhibits viral replication via phosphorylation of the alpha subunit of eukaryotic initiation fac [...] 9606.ENSP00000233078 DAZAP1 407 DAZ-associated protein 1; RNA-binding protein, which may be required during spermatogenesis 9606.ENSP00000233099 HEATR5B 2071 HEAT repeat-containing protein 5B; Armadillo-like helical domain containing 9606.ENSP00000233121 MAPRE3 281 Microtubule-associated protein RP/EB family member 3; Plus-end tracking protein (+TIP) that binds to the plus- end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, an important step for polarized [...] 9606.ENSP00000233143 TMSB10 44 Thymosin beta-10; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity); Belongs to the thymosin beta family 9606.ENSP00000233146 MSH2 934 DNA mismatch repair protein Msh2; Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2- MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a [...] 9606.ENSP00000233154 NCK2 380 Cytoplasmic protein NCK2; Adapter protein which associates with tyrosine- phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1- dependent transcriptional activation in response to activated Ras signaling; SH2 domain containing 9606.ENSP00000233156 TFPI 304 Tissue factor pathway inhibitor; Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma 9606.ENSP00000233202 SLC11A1 550 Natural resistance-associated macrophage protein 1; Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis [...] 9606.ENSP00000233242 APOB 4563 Apolipoprotein B-100; Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor; Apolipoproteins 9606.ENSP00000233331 INO80B 356 INO80 complex subunit B; Induces growth and cell cycle arrests at the G1 phase of the cell cycle; INO80 complex 9606.ENSP00000233336 TTL 377 Tubulin--tyrosine ligase; Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin 9606.ENSP00000233379 FAHD2A 314 Fumarylacetoacetate hydrolase domain-containing protein 2A; May have hydrolase activity 9606.ENSP00000233468 SF3B6 125 Splicing factor 3B subunit 6; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch si [...] 9606.ENSP00000233535 SLC30A3 388 Zinc transporter 3; Involved in accumulation of zinc in synaptic vesicles; Solute carriers 9606.ENSP00000233557 NRBP1 535 Nuclear receptor-binding protein; May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000233575 SNX17 470 Sorting nexin-17; Critical regulator of endosomal recycling of numerous receptors, channels, and other transmembrane proteins. Binds to NPxY sequences in the cytoplasmic tails of target cargos. Plays a role in the sorting of endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels of APP and LRP1. Recycles internalized integrins ITGB1, ITGB5 and their associated alpha subunits, preventing them from lysosomal degradation. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) 9606.ENSP00000233596 REEP6 184 Receptor accessory protein 6 9606.ENSP00000233615 WBP1 269 WW domain binding protein 1; WBP1/VOPP1 family 9606.ENSP00000233616 MOGS 837 Mannosyl-oligosaccharide glucosidase; Cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner; Belongs to the glycosyl hydrolase 63 family 9606.ENSP00000233623 TTC31 519 Tetratricopeptide repeat domain containing 9606.ENSP00000233627 NDUFS7 213 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000233630 PCGF1 259 Polycomb group RING finger protein 1; Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin- dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell [...] 9606.ENSP00000233638 TLX2 284 T-cell leukemia homeobox protein 2; Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity); NKL subclass homeoboxes and pseudogenes 9606.ENSP00000233668 DOK1 481 Docking protein 1; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3 9606.ENSP00000233710 ACADL 430 Long-chain specific acyl-CoA dehydrogenase, mitochondrial; acyl-CoA dehydrogenase long chain; Belongs to the acyl-CoA dehydrogenase family 9606.ENSP00000233712 EVA1A 152 Protein eva-1 homolog A; Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis 9606.ENSP00000233735 REG1A 166 Lithostathine-1-alpha; Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration; C-type lectin domain containing 9606.ENSP00000233809 IGFBP2 325 Insulin-like growth factor-binding protein 2; Inhibits IGF-mediated growth and developmental rates. IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors 9606.ENSP00000233813 IGFBP5 272 Insulin-like growth factor-binding protein 5; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors 9606.ENSP00000233826 KCNJ13 360 Inward rectifier potassium channel 13; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependen [...] 9606.ENSP00000233838 GGCX 758 Vitamin K-dependent gamma-carboxylase; Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide 9606.ENSP00000233840 NEU2 380 Sialidase-2; Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins, oligosaccharides and gangliosides 9606.ENSP00000233893 HSPE1 102 10 kDa heat shock protein, mitochondrial; Co-chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp60, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per [...] 9606.ENSP00000233948 WNT6 365 Protein Wnt-6; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA-damaging anthracycline drugs through the activation of the canonical Wnt receptor signaling pathway 9606.ENSP00000233954 IL1RL1 556 Interleukin-1 receptor-like 1; Receptor for interleukin-33 (IL-33); signaling requires association of the coreceptor IL1RAP. Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function; I-set domain containing 9606.ENSP00000233969 SLC9A2 812 Sodium/hydrogen exchanger 2; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption; Solute carriers 9606.ENSP00000233997 AZU1 251 Azurocidin; This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram- negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-nagative bacterium P.aeruginosa, this [...] 9606.ENSP00000234038 PPP1R7 360 Protein phosphatase 1 regulatory subunit 7; Regulatory subunit of protein phosphatase 1; Belongs to the SDS22 family 9606.ENSP00000234071 PROC 461 Vitamin K-dependent protein C; Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Exerts a protective effect on the endothelial cell barrier function; Belongs to the peptidase S1 family 9606.ENSP00000234091 ID2 134 DNA-binding protein inhibitor ID-2; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the C [...] 9606.ENSP00000234111 ODC1 461 Ornithine decarboxylase; Catalyzes the first and rate-limiting step of polyamine biosynthesis that converts ornithine into putrescine, which is the precursor for the polyamines, spermidine and spermine. Polyamines are essential for cell proliferation and are implicated in cellular processes, ranging from DNA replication to apoptosis; Belongs to the Orn/Lys/Arg decarboxylase class-II family 9606.ENSP00000234160 GORASP2 452 Golgi reassembly-stacking protein 2; Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after mitotic breakdown. May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA; Belongs to the GORASP family 9606.ENSP00000234170 CEBPZ 1054 CCAAT/enhancer-binding protein zeta; Stimulates transcription from the HSP70 promoter; Armadillo-like helical domain containing 9606.ENSP00000234195 RMDN2 573 Regulator of microtubule dynamics 2; Belongs to the RMDN family 9606.ENSP00000234198 DLX2 328 Homeobox protein DLX-2; Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000234256 SLC1A4 532 Neutral amino acid transporter A; Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence; Solute carriers 9606.ENSP00000234296 ORC2 577 Origin recognition complex subunit 2; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre- replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K20me3 and H4K27me3. Stabilizes LRWD1, by protecting it from ubiquitin- mediated proteasomal degradation. Also stabilizes ORC3; Belongs to the ORC2 family 9606.ENSP00000234310 PPP3R1 170 Calcineurin subunit B type 1; Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity; EF-hand domain containing 9606.ENSP00000234313 PLEK 350 Pleckstrin; Major protein kinase C substrate of platelets; Pleckstrin homology domain containing 9606.ENSP00000234347 PRTN3 256 Myeloblastin; Serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro). By cleaving and activating receptor F2RL1/PAR-2, enhances endothelial cell barrier function and thus vascular integrity during neutrophil transendothelial migration. May play a role in neutrophil transendothelial migration, probably when associated with CD177; Belongs to the peptidase S1 family. Elastase subfamily 9606.ENSP00000234371 KISS1R 398 KiSS-1 receptor; Receptor for metastin (kisspeptin-54 or kp-54), a C- terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis a [...] 9606.ENSP00000234389 GRIN3B 1043 Glutamate receptor ionotropic, NMDA 3B; NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine 9606.ENSP00000234392 VAX2 290 Ventral anterior homeobox 2; Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000234396 ATP6V1B1 513 V-type proton ATPase subunit B, kidney isoform; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the ATPase alpha/beta chains family 9606.ENSP00000234420 MSH6 1360 DNA mismatch repair protein Msh6; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, a [...] 9606.ENSP00000234453 PLEKHA3 300 Pleckstrin homology domain-containing family A member 3; Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P); Pleckstrin homology domain containing 9606.ENSP00000234454 SPR 261 Sepiapterin reductase; Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin; Belongs to the sepiapterin reductase family 9606.ENSP00000234488 CLCN6 869 Chloride transport protein 6; Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter; Belongs to the chloride channel (TC 2.A.49) family. ClC-6/CLCN6 subfamily 9606.ENSP00000234590 ENO1 434 Alpha-enolase; Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production; Belongs to the enolase family 9606.ENSP00000234677 SARS 514 Serine--tRNA ligase, cytoplasmic; Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser- AMP and then transferred to the acceptor end of tRNA(Ser). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC. Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16) [...] 9606.ENSP00000234701 CLCA1 914 Calcium-activated chloride channel regulator 1; May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC; Chloride channel accessory 9606.ENSP00000234739 BCL9 1426 B-cell CLL/lymphoma 9 protein; Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity); Belongs to the BCL9 family 9606.ENSP00000234798 TPSG1 321 Tryptase gamma; Serine proteases 9606.ENSP00000234816 ANGPTL1 491 Angiopoietin-related protein 1; Fibrinogen C domain containing; Angiopoietin like 9606.ENSP00000234827 TCEANC2 208 Transcription elongation factor A N-terminal and central domain containing 2 9606.ENSP00000234831 TMEM59 323 Transmembrane protein 59; Acts as a regulator of autophagy in response to S.aureus infection by promoting activation of LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C). Acts by interacting with ATG16L1, leading to promote a functional complex between LC3 and ATG16L1 and promoting LC3 lipidation and subsequent activation of autophagy. Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding; Belongs to the TMEM59 family 9606.ENSP00000234961 OPRD1 372 Delta-type opioid receptor; G-protein coupled receptor that functions as receptor for endogenous enkephalins and for a subset of other opioids. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain and in opiate-mediated analgesia. [...] 9606.ENSP00000235090 WDR77 342 Methylosome protein 50; Non-catalytic component of the 20S PRMT5-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones. This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The 20S PRMT5-containing methyltransferase complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tud [...] 9606.ENSP00000235307 C1orf21 121 Uncharacterized protein C1orf21; Chromosome 1 open reading frame 21 9606.ENSP00000235310 MAD2L2 211 Mitotic spindle assembly checkpoint protein MAD2B; Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediate [...] 9606.ENSP00000235329 MFN2 757 Mitofusin-2; Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion. Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events. Overexpression induces the formation of mitochondrial networks. Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the [...] 9606.ENSP00000235332 MIIP 388 Migration and invasion-inhibitory protein; Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion 9606.ENSP00000235345 SLC35D1 355 UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; Transports both UDP-glucuronic acid (UDP-GlcA) and UDP- N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen. Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity); Solute carriers 9606.ENSP00000235347 PRAMEF10 474 PRAME family member 10; Belongs to the PRAME family 9606.ENSP00000235349 PRAMEF4 478 PRAME family member 4; Belongs to the PRAME family 9606.ENSP00000235372 PRDM2 1718 PR domain zinc finger protein 2; S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene; Belongs to the class V-like SAM-binding methyltransferase superfamily 9606.ENSP00000235382 RGS2 211 Regulator of G-protein signaling 2; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. It is involved in the negative regulation of the angiotensin-activated signaling pathway. Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, ther [...] 9606.ENSP00000235521 WARS2 360 Tryptophan--tRNA ligase, mitochondrial; Mitochondrial aminoacyl-tRNA synthetase that activate and transfer the amino acids to their corresponding tRNAs during the translation of mitochondrial genes and protein synthesis 9606.ENSP00000235532 OSCP1 379 Protein OSCP1; May be involved in drug clearance in the placenta 9606.ENSP00000235628 NT5C1A 368 Cytosolic 5'-nucleotidase 1A; Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia; 5'-nucleotidases 9606.ENSP00000235835 AKR7A2 359 Aflatoxin B1 aldehyde reductase member 2; Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2- nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protect [...] 9606.ENSP00000235933 CD160 181 CD160 antigen; Receptor showing broad specificity for both classical and non-classical MHC class I molecules 9606.ENSP00000236040 LEPRE1 804 Prolyl 3-hydroxylase 1; Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro- Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts 9606.ENSP00000236137 SLC19A2 497 Thiamine transporter 1; High-affinity transporter for the intake of thiamine; Solute carriers 9606.ENSP00000236147 SELL 385 L-selectin; Cell surface adhesion protein. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia; C-type lectin domain containing 9606.ENSP00000236166 FMO6P 418 Putative dimethylaniline monooxygenase [N-oxide-forming] 6; It is probable that this protein is only produced in very small quantity or not at all as the gene coding for it seems to be unable to produce full-length transcripts 9606.ENSP00000236192 VAMP4 141 Vesicle-associated membrane protein 4; Involved in the pathway that functions to remove an inhibitor (probably synaptotagmin-4) of calcium-triggered exocytosis during the maturation of secretory granules. May be a marker for this sorting pathway that is critical for remodeling the secretory response of granule; Vesicle associated membrane proteins 9606.ENSP00000236273 SYF2 243 Pre-mRNA-splicing factor SYF2; May be involved in pre-mRNA splicing; Belongs to the SYF2 family 9606.ENSP00000236495 SLC5A9 706 Sodium/glucose cotransporter 4; Involved in sodium-dependent transport of D-mannose, D- glucose and D-fructose; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family 9606.ENSP00000236671 CTSD 412 Cathepsin D; Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease; Cathepsins 9606.ENSP00000236709 A4GNT 340 Alpha-1,4-N-acetylglucosaminyltransferase; Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. Necessary for the synthesis of type III mucin which is specifically produced in the stomach, duodenum, and pancreatic duct. May protect against inflammation-associated gastric adenocarcinomas (By similarity); Alpha 1,4-glycosyltransferases 9606.ENSP00000236826 MMP8 467 Neutrophil collagenase; Can degrade fibrillar type I, II, and III collagens; Belongs to the peptidase M10A family 9606.ENSP00000236850 APOA1 267 Apolipoprotein A-I; Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility; Apolipoproteins 9606.ENSP00000236877 SLC8A2 921 Sodium/calcium exchanger 2; Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells. Contributes to the rapid decrease of cytoplasmic Ca(2+) levels back to baseline after neuronal activation, and thereby contributes to modulate synaptic plasticity, learning and memory. Plays a role in regulating urinary Ca(2+) and Na(+) excretion; Belongs to the Ca(2+):cation antiporter (CaCA) (TC [...] 9606.ENSP00000236918 TNNT2 298 Troponin T, cardiac muscle; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity 9606.ENSP00000236925 CAMSAP2 1489 Calmodulin-regulated spectrin-associated protein 2; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization. Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization. Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization. In addition, it also reduces the velocity of microtubule [...] 9606.ENSP00000236959 ATIC 592 Bifunctional purine biosynthesis protein PURH; Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis; Belongs to the PurH family 9606.ENSP00000236979 TNP1 55 Spermatid nuclear transition protein 1; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction; Belongs to the nuclear transition protein 1 family 9606.ENSP00000236980 FASTKD2 710 FAST kinase domain-containing protein 2, mitochondrial; Plays an important role in assembly of the mitochondrial large ribosomal subunit; FASTK mitochondrial RNA binding family 9606.ENSP00000237014 TTR 147 Transthyretin; Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain; Gla domain containing 9606.ENSP00000237163 DOPEY1 2476 Protein dopey-1; May be involved in protein traffic between late Golgi and early endosomes 9606.ENSP00000237172 FILIP1 1213 Filamin-A-interacting protein 1; By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A 9606.ENSP00000237201 SPACA1 294 Sperm acrosome membrane-associated protein 1; May be involved in sperm-egg fusion 9606.ENSP00000237264 TBPL1 186 TATA box-binding protein-like protein 1; Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box 9606.ENSP00000237275 ZC2HC1B 222 Zinc finger C2HC-type containing 1B; Belongs to the ZC2HC1 family 9606.ENSP00000237281 FBXO30 745 F-box only protein 30; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation; F-boxes other 9606.ENSP00000237283 ADAT2 191 tRNA-specific adenosine deaminase 2; Probably participates in deamination of adenosine-34 to inosine in many tRNAs; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT2 subfamily 9606.ENSP00000237353 PMFBP1 1007 Polyamine-modulated factor 1-binding protein 1; May play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton 9606.ENSP00000237380 MED28 178 Mediator of RNA polymerase II transcription subunit 28; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex [...] 9606.ENSP00000237455 RNF103 685 E3 ubiquitin-protein ligase RNF103; Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway; Ring finger proteins 9606.ENSP00000237530 RPN2 631 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2; Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains; Belongs to the SWP1 family 9606.ENSP00000237536 SOGA1 1661 Protein SOGA1; Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner; Belongs to the SOGA family 9606.ENSP00000237596 PKD2 968 Polycystin-2; Functions as a cation channel involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Functions as outward-rectifying K(+) channel, but is also permeable to Ca(2+), and to a much lesser degree also to Na(+). May contribute to the release of Ca(2+) stores from the endoplasmic reticulum. Together with TRPV4, forms mechano- and thermosensitive channels in cilium. PKD1 and PKD2 may function through a common signaling pathway that is necessary to maintain the normal, differentiated state of renal tubule cells. Acts as a regulator of cilium length, to [...] 9606.ENSP00000237612 ABCG2 655 ATP-binding cassette sub-family G member 2; High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs a [...] 9606.ENSP00000237642 STBD1 358 Starch-binding domain-containing protein 1; Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes 9606.ENSP00000237654 CCNI 377 Cyclin-I; Cyclin I; Belongs to the cyclin family 9606.ENSP00000237696 RARRES1 294 Retinoic acid receptor responder protein 1; Inhibitor of the cytoplasmic carboxypeptidase AGBL2, may regulate the alpha-tubulin tyrosination cycle 9606.ENSP00000237822 C2orf43 325 Lipid droplet-associated hydrolase; Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages; Belongs to the AB hydrolase superfamily. LDAH family 9606.ENSP00000237837 FGF23 251 Fibroblast growth factor 23; Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization 9606.ENSP00000237853 ELL2 640 RNA polymerase II elongation factor ELL2; Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exo [...] 9606.ENSP00000237889 NDUFB3 98 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000237937 ZFAND5 213 AN1-type zinc finger protein 5; Involved in protein degradation via the ubiquitin- proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Inhibits also tumor necrosis factor (TNF), IL-1 and TLR4- induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a pote [...] 9606.ENSP00000238018 GDA 471 Guanine deaminase; Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia; Belongs to the metallo-dependent hydrolases superfamily. ATZ/TRZ family 9606.ENSP00000238044 C2orf40 148 Augurin; Probable hormone that may induce senescence of oligodendrocyte and neural precursor cells, characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation 9606.ENSP00000238112 CPSF3 684 Cleavage and polyadenylation specificity factor subunit 3; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3'-end-processing endonuclease. Also involved in the histone 3'-end pre-mRNA processing. U7 snRNP- dependent protein that induces both the 3'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' t [...] 9606.ENSP00000238146 DDX55 600 ATP-dependent RNA helicase DDX55; Probable ATP-binding RNA helicase; DEAD-box helicases 9606.ENSP00000238156 CCDC92 331 Coiled-coil domain containing 92 9606.ENSP00000238256 FKBP15 1219 FK506-binding protein 15; May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase (By similarity). Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule- based movement; FKBP prolyl isomerases 9606.ENSP00000238379 HDHD3 251 Haloacid dehalogenase like hydrolase domain containing 3 9606.ENSP00000238497 VPS4B 444 Vacuolar protein sorting-associated protein 4B; Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth fact [...] 9606.ENSP00000238508 SERPINB10 397 Serpin B10; Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus; Serpin peptidase inhibitors 9606.ENSP00000238558 GSC 257 Homeobox protein goosecoid; Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals; PRD class homeoboxes and pseudogenes 9606.ENSP00000238561 ADCK1 523 Uncharacterized aarF domain-containing protein kinase 1; The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) 9606.ENSP00000238609 IFI27L2 130 Interferon alpha inducible protein 27 like 2 9606.ENSP00000238616 NEK9 979 Serine/threonine-protein kinase Nek9; Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively; Belongs to the protein kinase superfamily. NEK Ser/Thr protein k [...] 9606.ENSP00000238618 ACYP1 99 Acylphosphatase-1; Its physiological role is not yet clear; Belongs to the acylphosphatase family 9606.ENSP00000238628 IFT43 213 Intraflagellar transport proteins 9606.ENSP00000238647 IRF2BPL 796 Interferon regulatory factor 2-binding protein-like; May contribute to the control of female reproductive function (By similarity). May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter; Belongs to the IRF2BP family 9606.ENSP00000238651 ACOT2 483 Acyl-coenzyme A thioesterase 2, mitochondrial; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs 9606.ENSP00000238667 FLVCR2 526 Feline leukemia virus subgroup C receptor-related protein 2; Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism; Solute carriers 9606.ENSP00000238682 TGFB3 412 Transforming growth factor beta-3; Involved in embryogenesis and cell differentiation; Belongs to the TGF-beta family 9606.ENSP00000238714 PAPOLG 736 Poly(A) polymerase gamma; Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA 9606.ENSP00000238721 TP53I3 332 Quinone oxidoreductase PIG3; May be involved in the generation of reactive oxygen species (ROS). Has low NADPH-dependent beta-naphthoquinone reductase activity, with a preference for 1,2-beta-naphthoquinone over 1,4-beta-naphthoquinone. Has low NADPH-dependent diamine reductase activity (in vitro) 9606.ENSP00000238738 RHOQ 205 Rho-related GTP-binding protein RhoQ; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia; Rho family GTPases 9606.ENSP00000238788 TMEM214 689 Transmembrane protein 214; Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress; Belongs to the TMEM214 family 9606.ENSP00000238789 ATAD2B 1458 ATPase family, AAA domain containing 2B 9606.ENSP00000238823 FAM98A 518 Protein FAM98A; Positively stimulates PRMT1-induced protein arginine methylation. Involved in skeletal homeostasis (By similarity). Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). Promotes colorectal cancer cell malignancy; tRNA splicing ligase complex 9606.ENSP00000238831 YIPF4 244 Protein YIPF4; Involved in the maintenance of the Golgi structure; Belongs to the YIP1 family 9606.ENSP00000238855 AFTPH 936 Aftiphilin; May play a role in membrane trafficking 9606.ENSP00000238875 LGALSL 172 Galectin-related protein; Does not bind lactose, and may not bind carbohydrates 9606.ENSP00000238892 CRIPT 101 Cysteine-rich PDZ-binding protein; Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses 9606.ENSP00000238936 TMEM180 517 Transmembrane protein 180 9606.ENSP00000238994 PPP1R3C 317 Protein phosphatase 1 regulatory subunit 3C; Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types; Protein phosphatase 1 regulatory subunits 9606.ENSP00000239032 PRLHR 370 Prolactin-releasing peptide receptor; Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000239125 C10orf95 257 Uncharacterized protein C10orf95; Chromosome 10 open reading frame 95 9606.ENSP00000239144 HOXB8 243 Homeobox protein Hox-B8; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000239151 HOXB5 269 Homeobox protein Hox-B5; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000239165 HOXB7 217 Homeobox protein Hox-B7; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000239223 DUSP1 367 Dual specificity protein phosphatase 1; Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185', regulating its activity during the meiotic cell cycle; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000239231 PANK3 370 Pantothenate kinase 3; Plays a role in the physiological regulation of the intracellular CoA concentration 9606.ENSP00000239243 MSX2 267 Homeobox protein MSX-2; Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antogonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000239316 INSL4 139 Early placenta insulin-like peptide; May play an important role in trophoblast development and in the regulation of bone formation; Belongs to the insulin family 9606.ENSP00000239347 IFNA7 189 Interferon alpha-7; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000239367 LRP11 500 Low-density lipoprotein receptor-related protein 11; Low density lipoprotein receptors; Belongs to the LDLR family 9606.ENSP00000239374 CCDC170 715 Coiled-coil domain containing 170 9606.ENSP00000239440 ARAP3 1544 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin; Ankyrin repeat domain containing 9606.ENSP00000239444 PCDHB8 801 Protocadherin beta-8; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000239446 PCDHB10 800 Protocadherin beta-10; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000239449 PCDHB14 798 Protocadherin beta-14; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000239450 PCDHB12 795 Protocadherin beta-12; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000239451 SLC25A2 301 Mitochondrial ornithine transporter 2; Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000239461 PRRX1 245 Paired mesoderm homeobox protein 1; Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity); Belongs to the paired homeobox family 9606.ENSP00000239462 TNN 1299 Tenascin-N; Extracellular matrix protein that seems to be a ligand for ITGA8:ITGB1, ITGAV:ITGB1 and ITGA4:ITGB1 (By similarity). Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). During endochondral bone formation, inhibits proliferation and differentiation of proteoblasts mediated by canonical WNT signaling (By similarity). In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells. Expressed in most mammary tumors, may facilitate tumorigenesis by supporting the migratory behavior of breast cancer cells; Belon [...] 9606.ENSP00000239587 TTLL2 592 Probable tubulin polyglutamylase TTLL2; Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity); Tubulin tyrosine ligase family 9606.ENSP00000239614 MSANTD2 507 Myb/SANT-like DNA-binding domain-containing protein 2; Myb/SANT DNA binding domain containing 2 9606.ENSP00000239666 PDZD11 140 PDZ domain containing 11 9606.ENSP00000239690 NUDCD1 583 NudC domain containing 1 9606.ENSP00000239830 CCDC77 488 Coiled-coil domain containing 77 9606.ENSP00000239882 ELF1 619 ETS-related transcription factor Elf-1; Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer; Belongs to the ETS family 9606.ENSP00000239891 ALG5 324 ALG5, dolichyl-phosphate beta-glucosyltransferase; Glycosyltransferase family 2 9606.ENSP00000239906 FAM53C 392 Protein FAM53C; Family with sequence similarity 53 member C 9606.ENSP00000239926 MYOT 498 Myotilin; Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells; I-set domain containing 9606.ENSP00000239938 EGR1 543 Early growth response protein 1; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes (By similarity). Binds double- stranded target DNA, irrespective of the cytosine methylation status. Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor form [...] 9606.ENSP00000239940 PFN2 140 Profilin-2; Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG 9606.ENSP00000240055 NFYB 207 Nuclear transcription factor Y subunit beta; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'- CCAAT-3' box motif found in the promoters of its target genes. NF- Y can function as both an activator and a repressor, depending on its interacting cofactors; Belongs to the NFYB/HAP3 subunit family 9606.ENSP00000240079 CCDC53 194 WASH complex subunit 3; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting; Belongs to the CCDC53 family 9606.ENSP00000240100 DUSP4 394 Dual specificity protein phosphatase 4; Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2 9606.ENSP00000240123 SORBS3 671 Vinexin; Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain 9606.ENSP00000240185 TARDBP 414 TAR DNA-binding protein 43; DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA [...] 9606.ENSP00000240189 PRAMEF2 474 PRAME family member 2; Belongs to the PRAME family 9606.ENSP00000240285 RDH10 341 Retinol dehydrogenase 10; Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000240306 DLX4 240 Homeobox protein DLX-4; May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis; Belongs to the distal-less homeobox family 9606.ENSP00000240316 COIL 576 Coilin; Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs; Belongs to the coilin family 9606.ENSP00000240328 TBX2 712 T-box transcription factor TBX2; Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation; T-boxes 9606.ENSP00000240333 SLC35B1 359 Solute carrier family 35 member B1; Probable sugar transporter; Belongs to the nucleotide-sugar transporter family. SLC35B subfamily 9606.ENSP00000240335 TBX4 545 T-box transcription factor TBX4; Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation; T-boxes 9606.ENSP00000240361 TEX14 1497 Inactive serine/threonine-protein kinase TEX14; Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell abscission and leading to transform midbodie [...] 9606.ENSP00000240364 FAM117A 453 Protein FAM117A; Family with sequence similarity 117 member A 9606.ENSP00000240423 NCAPH 741 Condensin complex subunit 2; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases 9606.ENSP00000240488 MND1 205 Meiotic nuclear division protein 1 homolog; Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis (By similarity). Stimulates both DMC1- and RAD51-mediated homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks 9606.ENSP00000240499 ZNF141 474 Zinc finger protein 141; May be involved in transcriptional regulation as a repressor. Plays a role in limb development; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000240587 TSHZ3 1081 Teashirt homolog 3; Transcriptional regulator involved in developmental processes. Function in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway funct [...] 9606.ENSP00000240615 TAS2R8 309 Taste receptor type 2 member 8; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000240617 PLBD1 553 Phospholipase B-like 1; In view of the small size of the putative binding pocket, it has been proposed that it may act as an amidase or a peptidase (By similarity). Exhibits a weak phospholipase activity, acting on various phospholipids, including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids 9606.ENSP00000240618 KLRK1 216 Killer cell lectin-like receptor subfamily K, member 1; Function as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination o [...] 9606.ENSP00000240619 TAS2R10 307 Taste receptor type 2 member 10; Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium- regulated cation channel TRPM5 9606.ENSP00000240651 PYROXD1 500 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1; Involved in cellular response to oxidative stress; Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. PYROXD1 subfamily 9606.ENSP00000240652 IAPP 89 Islet amyloid polypeptide; Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism; Belongs to the calcitonin family 9606.ENSP00000240662 KCNJ8 424 ATP-sensitive inward rectifier potassium channel 8; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity); Belon [...] 9606.ENSP00000240687 TAS2R7 318 Taste receptor type 2 member 7; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 9606.ENSP00000240691 TAS2R9 312 Taste receptor type 2 member 9; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity) 9606.ENSP00000240851 TFG 400 Protein TFG; Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules 9606.ENSP00000240874 KALRN 1663 Kalirin; Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000240922 NAA50 169 N-alpha-acetyltransferase 50; N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine. Has a broad substrate specificity: able to acetylate the initiator methionine of most peptides, except for those with a proline in second position. Also displays N-epsilon-acetyltransferase activity by mediating acetylation of the side chain of specific lysines on proteins. Autoacetylates in vivo. The relevance of N-epsilon-acetyltransferase activity is however unclear: able to acetylate H4 in vitro, but this result has not been confirmed in vivo. [...] 9606.ENSP00000241014 MAPK8IP1 711 C-Jun-amino-terminal kinase-interacting protein 1; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK- regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. [...] 9606.ENSP00000241041 PEX16 346 Peroxisomal membrane protein PEX16; Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3; Belongs to the peroxin-16 family 9606.ENSP00000241051 DEPDC7 511 DEP domain containing 7; Belongs to the DEPDC7 family 9606.ENSP00000241052 CAT 527 Catalase; Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells; Belongs to the catalase family 9606.ENSP00000241125 GJA3 435 Gap junction alpha-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Alpha-type (group II) subfamily 9606.ENSP00000241256 GHSR 366 Growth hormone secretagogue receptor type 1; Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine) 9606.ENSP00000241261 TNFSF10 281 Tumor necrosis factor ligand superfamily member 10; Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG. Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis; CD molecules 9606.ENSP00000241305 CPXM2 756 Inactive carboxypeptidase-like protein X2; May be involved in cell-cell interactions; M14 carboxypeptidases 9606.ENSP00000241337 GSTM2 218 Glutathione S-transferase Mu 2; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles; Belongs to the GST superfamily. Mu family 9606.ENSP00000241416 ACVR2A 513 Activin receptor type-2A; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity); Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily 9606.ENSP00000241436 POLK 870 DNA polymerase kappa; DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity 9606.ENSP00000241453 FLT3 993 Receptor-type tyrosine-protein kinase FLT3; Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only m [...] 9606.ENSP00000241463 RASL11A 242 Ras-like protein family member 11A; Regulator of rDNA transcription. Acts in cooperation UBF/UBTF and positively regulates RNA polymerase I transcription (By similarity); Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000241502 FYTTD1 318 UAP56-interacting factor; Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4 9606.ENSP00000241651 MYOG 224 Myogenin; Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation, cell cycle exit and muscle atrophy. Essential for the development of functional embryonic skeletal fiber muscle differentiation. However is dispensable for postnatal skeletal muscle growth; phosphorylation by CAMK2G inhibits its transcriptional activity in respons to muscle activity. Required for the recruitment of the FACT complex to muscle-specific promoter regions, thus promoting gene expression initiation. During terminal myoblast dif [...] 9606.ENSP00000242057 AHR 848 Aryl hydrocarbon receptor; Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates. Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. Involved in cell-cycle regulation. Likely to play an important role in the development and maturation of many tissues. Regulates the circadian clock by inhibiting the basal and circadian expression of the core circadian component PER1. Inhibits PER1 by repressing [...] 9606.ENSP00000242067 BBS9 887 Protein PTHB1; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF [...] 9606.ENSP00000242104 OCM 109 Oncomodulin-1; Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions; EF-hand domain containing 9606.ENSP00000242108 EEPD1 569 Endonuclease/exonuclease/phosphatase family domain containing 1 9606.ENSP00000242109 KIAA0087 138 Uncharacterized protein KIAA0087; KIAA0087 lncRNA 9606.ENSP00000242140 WIPF3 483 WAS/WASL-interacting protein family member 3; May be a regulator of cytoskeletal organization. May have a role in spermatogenesis (By similarity); Belongs to the verprolin family 9606.ENSP00000242159 HOXA7 230 Homeobox protein Hox-A7; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000242208 INHBA 426 Inhibin beta A chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins; Belongs to the TGF-beta family 9606.ENSP00000242249 RAMP3 148 Receptor activity-modifying protein 3; Plays a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a GPER1-dependent manner. Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) and GPER1 to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL; Receptor activity modifying proteins 9606.ENSP00000242257 FTSJ2 246 rRNA methyltransferase 2, mitochondrial; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O- methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family 9606.ENSP00000242261 TWIST1 202 Twist-related protein 1; Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN w [...] 9606.ENSP00000242285 CLTA 248 Clathrin light chain A; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Acts as component of the TACC3/ch- TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter- microtubule bridge 9606.ENSP00000242315 KIAA1045 400 PHD finger protein 24; KIAA1045 9606.ENSP00000242351 ZC3HAV1 902 Zinc finger CCCH-type antiviral protein 1; Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)- specific ribonuclease PARN to remove the poly(A) tail, and the 3'- 5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from t [...] 9606.ENSP00000242375 AKR1D1 326 3-oxo-5-beta-steroid 4-dehydrogenase; Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates; Aldo-keto reductases 9606.ENSP00000242462 NEUROG3 214 Neurogenin-3; Acts as a transcriptional regulator. Together with NKX2- 2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000242465 SRGN 158 Serglycin; Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF- alpha and may also r [...] 9606.ENSP00000242480 EGR2 476 E3 SUMO-protein ligase EGR2; Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4; Belongs to the EGR C2H2-type zinc-finger protein family 9606.ENSP00000242505 FAM149B1 582 Protein FAM149B1; Family with sequence similarity 149 member B1 9606.ENSP00000242576 UNG 313 Uracil-DNA glycosylase; Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine; Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family 9606.ENSP00000242591 IFT81 676 Intraflagellar transport protein 81 homolog; Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region. Required for ciliogenesis; Belongs to the IFT81 family 9606.ENSP00000242592 ACADS 412 Short-chain specific acyl-CoA dehydrogenase, mitochondrial; Introduces a double bond at position 2 in saturated acyl-CoA's of short chain length, i.e. less than 6 carbon atoms; Belongs to the acyl-CoA dehydrogenase family 9606.ENSP00000242719 RNF11 154 RING finger protein 11; Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of TNFAIP3 to RIPK1 after TNF stimulation. TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Recruits STAMBP to the E3 ubiquitin-ligase SMURF2 for ubiquitination, leadi [...] 9606.ENSP00000242728 BHLHE41 482 Class E basic helix-loop-helix protein 41; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodime [...] 9606.ENSP00000242729 SSPN 243 Sarcospan; Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC 9606.ENSP00000242776 DDX39A 427 ATP-dependent RNA helicase DDX39A; Isoform 1: Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus; Belongs to the DEAD box helicase family. DECD subfamily 9606.ENSP00000242784 C19orf43 176 Telomerase RNA component interacting RNase; Exoribonuclease that is part of the telomerase RNA 3' end processing complex and which has the ability to all four unpaired RNA nucleotides from 5' end or 3' end with higher efficiency for purine bases 9606.ENSP00000242786 CD97 835 CD97 antigen; Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity); Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily 9606.ENSP00000242804 ZNF442 627 Zinc finger protein 442; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000242819 CCDC70 233 Coiled-coil domain containing 70 9606.ENSP00000242827 EBPL 206 Emopamil-binding protein-like; Does not possess sterol isomerase activity and does not bind sigma ligands 9606.ENSP00000242839 ATP7B 1465 Copper-transporting ATPase 2; Copper ion transmembrane transporter involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile; ATPase copper transporting 9606.ENSP00000242994 NEUROD4 331 Neurogenic differentiation factor 4; Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000243045 ORMDL2 153 ORM1-like protein 2; Negative regulator of sphingolipid synthesis 9606.ENSP00000243052 PDE1B 536 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B; Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a preference for cGMP as a substrate 9606.ENSP00000243056 HOXC13 330 Homeobox protein Hox-C13; Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity); Belongs to the Abd-B homeobox family 9606.ENSP00000243077 LRP1 4544 Prolow-density lipoprotein receptor-related protein 1; Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission. Acts as [...] 9606.ENSP00000243103 HOXC12 282 Homeobox protein Hox-C12; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000243108 HOXC6 235 Homeobox protein Hox-C6; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000243167 FAAH 579 Fatty-acid amide hydrolase 1; Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates 9606.ENSP00000243189 RSRP1 290 Arginine and serine rich protein 1; Belongs to the RSRP family 9606.ENSP00000243253 SEC61A1 476 Protein transport protein Sec61 subunit alpha isoform 1; Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for assembly of membrane and secretory proteins. Tightly associated with membrane- bound ribosomes, either directly or through adapter proteins. Plays a role in pronephric kidney tubule development (By similarity); Belongs to the SecY/SEC61-alpha family 9606.ENSP00000243298 RAB9B 201 Ras-related protein Rab-9B; Involved in the transport of proteins between the endosomes and the trans Golgi network; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000243314 ENSG00000267978 315 Melanoma antigen family A, 9B; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression; MAGE family 9606.ENSP00000243326 RIF1 2472 Telomere-associated protein RIF1; Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)- mediated repair of DSBs. In response to DNA damage, interacts with ATM-phosphorylated TP53BP1. Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs. Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs. In the [...] 9606.ENSP00000243344 TTC21B 1316 Tetratricopeptide repeat protein 21B; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Negatively modulates the SHH signal transduction (By similarity); Intraflagellar transport proteins 9606.ENSP00000243346 NMI 307 N-myc-interactor; May be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. Augments cytokine-mediated STAT transcription. Enhances CBP/p300 coactivator protein recruitment to STAT1 and STAT5; Belongs to the NMI family 9606.ENSP00000243347 TNFAIP6 277 Tumor necrosis factor-inducible gene 6 protein; Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis 9606.ENSP00000243349 ACVR1C 493 Activin receptor type-1C; Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis 9606.ENSP00000243389 SLC36A1 476 Proton-coupled amino acid transporter 1; Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity); Solute carriers 9606.ENSP00000243440 BATF3 127 Basic leucine zipper transcriptional factor ATF-like 3; AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross-present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens (By similarity). Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes; Belongs [...] 9606.ENSP00000243457 KCNJ2 427 Inward rectifier potassium channel 2; Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be bl [...] 9606.ENSP00000243501 PLA2G12A 189 Group XIIA secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl- phosphatidylcholine or -phosphatidylethanolamine 9606.ENSP00000243563 SNRPA 282 U1 small nuclear ribonucleoprotein A; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs; Belongs to the RRM U1 A/B'' family 9606.ENSP00000243578 B9D2 175 B9 domain-containing protein 2; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes; B9 domain containing 9606.ENSP00000243611 C4BPB 252 C4b-binding protein beta chain; Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S; Sushi domain containing 9606.ENSP00000243644 ZNF350 532 Zinc finger protein 350; Transcriptional repressor. Binds to a specific sequence, 5'-GGGxxxCAGxxxTTT-3', within GADD45 intron 3; Zinc fingers C2H2-type 9606.ENSP00000243662 RAB38 211 Ras-related protein Rab-38; May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays an important role in the control of melanin production and melanosome biogenesis. In concert with RAB32, regulates the proper trafficking of melanogenic enzyme [...] 9606.ENSP00000243673 GPR83 423 Probable G-protein coupled receptor 83; Orphan receptor. Could be a neuropeptide Y receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000243706 HAUS3 603 HAUS augmin-like complex subunit 3; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex 9606.ENSP00000243776 CHPF 775 Chondroitin sulfate synthase 2; Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Isoform 2 may facilitate PRKN transport into the mitochondria. In collaboration with PRKN, isoform 2 may enhance cell viability and protect cells from oxidative stress 9606.ENSP00000243786 INHA 366 Inhibin alpha chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins; Belongs to the TGF-beta family 9606.ENSP00000243878 ENKD1 346 Enkurin domain containing 1 9606.ENSP00000243903 ACTR5 607 Actin-related protein 5; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair; Belongs to the actin family. ARP5 subfamily 9606.ENSP00000243911 MC3R 323 Melanocortin receptor 3; Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain; Melanocortin receptors 9606.ENSP00000243918 SYS1 156 Protein SYS1 homolog; Involved in protein trafficking. May serve as a receptor for ARFRP1; Belongs to the SYS1 family 9606.ENSP00000243924 PI3 117 Elafin; Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis; WAP four-disulfide core domain containing 9606.ENSP00000243938 WFDC3 231 WAP four-disulfide core domain containing 9606.ENSP00000243997 ATP5E 51 ATP synthase subunit epsilon, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of th [...] 9606.ENSP00000244007 PLCG1 1291 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1; Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand- mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration; C2 domain containing phospholipases 9606.ENSP00000244020 SRSF6 344 Serine/arginine-rich splicing factor 6; Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing; Belongs to the splicing factor SR family 9606.ENSP00000244040 RAB22A 194 Ras-related protein Rab-22A; Plays a role in endocytosis and intracellular protein transport. Mediates trafficking of TF from early endosomes to recycling endosomes. Required for NGF-mediated endocytosis of NTRK1, and subsequent neurite outgrowth. Binds GTP and GDP and has low GTPase activity. Alternates between a GTP-bound active form and a GDP-bound inactive form; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000244043 PTGIS 500 Prostacyclin synthase; Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2); Cytochrome P450 family 8 9606.ENSP00000244050 SNAI1 264 Zinc finger protein SNAI1; Involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. Binds to 3 E-boxes of the E-cadherin/CDH1 gene promoter and to the promoters of CLDN7 and KRT8 and, in association with histone demethylase KDM1A which it recruits to the promoters, causes a decrease in dimethylated H3K4 levels and represses transcription. Associates with EGR1 and SP1 to mediate tetradecanoyl phorbol acetate (TPA)-induced up- regulation of CDKN2B, possibly by binding to the CDKN2 [...] 9606.ENSP00000244051 MOCS3 460 Adenylyltransferase and sulfurtransferase MOCS3; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide t [...] 9606.ENSP00000244061 RNF114 228 E3 ubiquitin-protein ligase RNF114; E3 ubiquitin-protein ligase promoting the ubiquitination and degradation of the CDK inhibitor CDKN1A and probably also CDKN1B and CDKN1C. These activities stimulate cell cycle's G1-to-S phase transition and suppress cellular senescence. May play a role in spermatogenesis; Ring finger proteins 9606.ENSP00000244096 MAGEA10 369 Melanoma-associated antigen 10; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression; MAGE family 9606.ENSP00000244137 PEPD 493 Xaa-Pro dipeptidase; Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen; Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily 9606.ENSP00000244174 IL9R 521 Interleukin-9 receptor; This is a receptor for interleukin-9; Belongs to the type I cytokine receptor family. Type 4 subfamily 9606.ENSP00000244217 MCEE 176 Methylmalonyl-CoA epimerase, mitochondrial; methylmalonyl-CoA epimerase; Belongs to the glyoxalase I family 9606.ENSP00000244221 PAIP2B 123 Polyadenylate-binding protein-interacting protein 2B; Inhibits translation of capped and polyadenylated mRNAs by displacing PABPC1 from the poly(A) tail; Belongs to the PAIP2 family 9606.ENSP00000244227 SNRNP27 155 U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein; May play a role in mRNA splicing 9606.ENSP00000244230 MPHOSPH10 681 U3 small nucleolar ribonucleoprotein protein MPP10; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing; MPP10 subcomplex 9606.ENSP00000244241 IL17C 197 Interleukin-17C; Cytokine that plays a crucial role in innate immunity of the epithelium, including to intestinal bacterial pathogens, in an autocrine manner. Stimulates the production of antibacterial peptides and proinflammatory molecules for host defense by signaling through the NF-kappa-B and MAPK pathways. Acts synergically with IL22 in inducing the expression of antibacterial peptides, including S100A8, S100A9, REG3A and REG3G. Synergy is also observed with TNF and IL1B in inducing DEFB2 from keratinocytes. Depending on the type of insult, may have both protective and pathogenic [...] 9606.ENSP00000244289 LIPE 1076 Hormone-sensitive lipase; In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production; Lipases 9606.ENSP00000244314 IRGC 463 Interferon-inducible GTPase 5; Immunity related GTPase cinema 9606.ENSP00000244333 LYPD3 346 Ly6/PLAUR domain-containing protein 3; Supports cell migration. May be involved in urothelial cell-matrix interactions. May be involved in tumor progression; LY6/PLAUR domain containing 9606.ENSP00000244336 CEACAM8 349 Carcinoembryonic antigen related cell adhesion molecule family; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000244360 RNF39 420 RING finger protein 39; May play a role in prolonged long term-potentiation (LTP) maintenance; Ring finger proteins 9606.ENSP00000244426 FBXO9 447 F-box only protein 9; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of TTI1 and TELO2 in a CK2-dependent manner, thereby directly regulating mTOR signaling. SCF(FBXO9) recognizes and binds mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, the SCF(FBXO9) does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTO [...] 9606.ENSP00000244496 RRP36 259 Ribosomal RNA processing protein 36 homolog; Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA; Belongs to the RRP36 family 9606.ENSP00000244513 BTN1A1 526 Butyrophilin subfamily 1 member A1; May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity); Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000244519 BTN3A3 584 Butyrophilin subfamily 3 member A3; Plays a role in T-cell responses in the adaptive immune response; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000244520 SNRPC 159 U1 small nuclear ribonucleoprotein C; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region; Belongs to the U1 [...] 9606.ENSP00000244527 SLC17A1 467 Sodium-dependent phosphate transport protein 1; Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney; Solute carriers 9606.ENSP00000244534 HIST1H1D 221 Histone H1.3; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity) 9606.ENSP00000244537 HIST1H4F 103 Histone cluster 1 H4 family member f; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity) 9606.ENSP00000244565 UNC5CL 518 UNC5C-like protein; Inhibits NF-kappa-B-dependent transcription by impairing NF-kappa-B binding to its targets; Belongs to the unc-5 family 9606.ENSP00000244571 AARS2 985 Alanine--tRNA ligase, mitochondrial; Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000244573 HIST1H1A 215 Histone H1.1; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity) 9606.ENSP00000244576 ZNF391 358 Zinc finger protein 391; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000244623 OR2B6 313 Olfactory receptor 2B6; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000244669 APOBEC2 224 C->U-editing enzyme APOBEC-2; Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation 9606.ENSP00000244709 TREM1 234 Triggering receptor expressed on myeloid cells 1; Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock; CD molecules 9606.ENSP00000244711 MEA1 185 Male-enhanced antigen 1; May play an important role in spermatogenesis and/or testis development 9606.ENSP00000244728 COL21A1 957 Collagen type XXI alpha 1 chain; Collagens 9606.ENSP00000244745 SOX4 474 Transcription factor SOX-4; Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif; SRY-boxes 9606.ENSP00000244751 CPNE5 593 Copine-5; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes; Belongs to the copine family 9606.ENSP00000244763 SSR1 286 Translocon-associated protein subunit alpha; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins; Minor histocompatibility antigens 9606.ENSP00000244769 ATXN1 815 Ataxin-1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. In concert with CIC and ATXN1L, involved in brain development (By similarity) 9606.ENSP00000244869 EREG 169 Proepiregulin; Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation. Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation 9606.ENSP00000244926 SCGB1D2 90 Secretoglobin family 1D member 2; May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones; Secretoglobins 9606.ENSP00000244930 SCGB2A1 95 Mammaglobin-B; May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones; Belongs to the secretoglobin family. Lipophilin subfamily 9606.ENSP00000245046 EMC3 261 ER membrane protein complex subunit 3 9606.ENSP00000245105 SH3TC1 1336 SH3 domain and tetratricopeptide repeats 1 9606.ENSP00000245121 KATNAL2 466 Katanin p60 ATPase-containing subunit A-like 2; Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays; AAA ATPases 9606.ENSP00000245157 BBS2 721 Bardet-Biedl syndrome 2 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] 9606.ENSP00000245185 MT2A 61 Metallothionein-2; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family 9606.ENSP00000245206 GOT2 430 Aspartate aminotransferase, mitochondrial; Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000245222 SPHK2 654 Sphingosine kinase 2; Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro- dihydrosphingosine, D-erythro-sphingosine and L-threo- dihydrosphingosine. Binds phosphoinositides 9606.ENSP00000245255 PIWIL1 861 Piwi-like protein 1; Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived fr [...] 9606.ENSP00000245304 RAP2A 183 Ras-related protein Rap-2a; Small GTP-binding protein which cycles between a GDP- bound inactive and a GTP-bound active form. In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it is part of several signaling cascades and may regulate cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading; RAS type GTPase family 9606.ENSP00000245312 SLC10A2 348 Ileal sodium/bile acid cotransporter; Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family 9606.ENSP00000245323 EFNB2 333 Ephrin-B2; Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to receptor tyrosine kinase including EPHA4, EPHA3 an [...] 9606.ENSP00000245407 SLC22A5 557 Solute carrier family 22 member 5; Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3; Solute carriers 9606.ENSP00000245414 IRF1 325 Interferon regulatory factor 1; Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. These include the regulation of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during hematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target [...] 9606.ENSP00000245451 BMP4 408 Bone morphogenetic protein 4; Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity); Bone morphogenetic proteins 9606.ENSP00000245457 PTGER2 358 Prostaglandin E2 receptor EP2 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle 9606.ENSP00000245479 SOX9 509 Transcription factor SOX-9; Transcriptional regulator. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity). Plays a role in chondrocyte differentiation (By similarity). Important for normal skeletal development; SRY-boxes 9606.ENSP00000245503 MYH2 1941 Myosin-2; Muscle contraction. Required for cytoskeleton organization (By similarity); Myosin heavy chains 9606.ENSP00000245539 MRPS7 242 Mitochondrial ribosomal protein S7; Belongs to the universal ribosomal protein uS7 family 9606.ENSP00000245543 ARMC7 198 Armadillo repeat containing 7 9606.ENSP00000245544 NUP85 656 Nuclear pore complex protein Nup85; Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2-activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade; Nucl [...] 9606.ENSP00000245552 NT5C 201 5'(3')-deoxyribonucleotidase, cytosolic type; Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP; Belongs to the 5'(3')-deoxyribonucleotidase family 9606.ENSP00000245564 MSTO1 570 Protein misato homolog 1; Involved in the regulation of mitochondrial distribution and morphology. Required for mitochondrial fusion and mitochondrial network formation; Belongs to the misato family 9606.ENSP00000245615 MBOAT7 472 Lysophospholipid acyltransferase 7; Acyltransferase which contributes to the regulation of free arachidonic acid (AA) in the cell through the remodeling of phospholipids. Mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Required for cortical lamination during brain d [...] 9606.ENSP00000245620 LILRB3 632 Leukocyte immunoglobulin-like receptor subfamily B member 3; May act as receptor for class I MHC antigens. Becomes activated upon coligation of LILRB3 and immune receptors, such as FCGR2B and the B-cell receptor. Down-regulates antigen-induced B- cell activation by recruiting phosphatases to its immunoreceptor tyrosine-based inhibitor motifs (ITIM); CD molecules 9606.ENSP00000245680 SLC35F5 523 Solute carrier family 35 member F5; Putative solute transporter; Belongs to the SLC35F solute transporter family 9606.ENSP00000245787 INSIG2 225 Insulin-induced gene 2 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR 9606.ENSP00000245796 PSD4 1056 PH and SEC7 domain-containing protein 4; Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5- bisphosphate and phosphatidylinositol 4,5-bisphosphate; Pleckstrin homology domain containing 9606.ENSP00000245810 PSPN 156 Persephin; Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons; GDNF family ligands 9606.ENSP00000245812 ALKBH7 221 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial; May function as protein hydroxylase; can catalyze auto- hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate. Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death. ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage. Does [...] 9606.ENSP00000245816 CLPP 277 ATP-dependent Clp protease proteolytic subunit, mitochondrial; Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates; Belongs to the peptidase S14 family 9606.ENSP00000245817 TNFSF9 254 Tumor necrosis factor ligand superfamily member 9; Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation-induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages; Belongs to the tumor necrosis factor family 9606.ENSP00000245838 THOC2 1593 THO complex subunit 2; Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cyt [...] 9606.ENSP00000245903 CD70 193 CD70 antigen; Cytokine that binds to CD27. Plays a role in T-cell activation. Induces the proliferation of costimulated T-cells and enhances the generation of cytolytic T-cells; Belongs to the tumor necrosis factor family 9606.ENSP00000245907 C3 1663 Complement C3; C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates; C3 and PZP like, alpha-2-macroglobulin domain containing 9606.ENSP00000245908 SH2D3A 576 SH2 domain-containing protein 3A; May play a role in JNK activation; NSP adaptor proteins 9606.ENSP00000245919 FOSB 338 Protein fosB; FosB interacts with Jun proteins enhancing their DNA binding activity; Belongs to the bZIP family. Fos subfamily 9606.ENSP00000245923 RTN2 545 Reticulon-2; Reticulon 2 9606.ENSP00000245932 VASP 380 Vasodilator-stimulated phosphoprotein; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin- bound actin monomers onto the barbed end [...] 9606.ENSP00000245934 SYMPK 1274 Symplekin; Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house- keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity; Belongs to the Symplekin family 9606.ENSP00000245957 CFAP61 1237 Cilia- and flagella-associated protein 61; May regulate cilium motility through its role in the assembly of the axonemal radial spokes; Cilia and flagella associated 9606.ENSP00000245960 CDC25B 580 M-phase inducer phosphatase 2; Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity 9606.ENSP00000245983 GNRH2 120 Progonadoliberin-2; Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones; Belongs to the GnRH family 9606.ENSP00000246006 CD93 652 Complement component C1q receptor; Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion; C-type lectin domain containing 9606.ENSP00000246012 CST8 142 Cystatin-8; Performs a specialized role during sperm development and maturation; Cystatins, type 2 9606.ENSP00000246024 TMX4 349 Thioredoxin related transmembrane protein 4; Protein disulfide isomerases 9606.ENSP00000246062 MKKS 570 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis; Belongs to the TCP-1 chaperonin family 9606.ENSP00000246069 DSTN 165 Destrin; Actin-depolymerizing protein. Severs actin filaments (F- actin) and binds to actin monomers (G-actin). Acts in a pH- independent manner 9606.ENSP00000246070 LAMP5 280 Lysosome-associated membrane glycoprotein 5; Plays a role in short-term synaptic plasticity in a subset of GABAergic neurons in the brain 9606.ENSP00000246071 SNRPB2 225 U2 small nuclear ribonucleoprotein B'; Involved in pre-mRNA splicing. This protein is associated with snRNP U2. It binds stem loop IV of U2 snRNA only in presence of the U2A' protein; RNA binding motif containing 9606.ENSP00000246080 TCF15 199 Transcription factor 15; May function as an early transcriptional regulator, involved in the patterning of the mesoderm and in lineage determination of cell types derived from the mesoderm; Basic helix-loop-helix proteins 9606.ENSP00000246081 OTOR 128 Otoraplin; MIA family; Belongs to the MIA/OTOR family 9606.ENSP00000246104 SCRT2 307 Transcriptional repressor scratch 2; May be involved in transcriptional regulation; SNAG transcriptional repressors 9606.ENSP00000246105 DEFB129 183 Beta-defensin 129; Has antibacterial activity; Defensins, beta 9606.ENSP00000246112 TLE6 572 Transducin-like enhancer protein 6; As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions; Belongs to the WD repeat Groucho/TLE family 9606.ENSP00000246115 S1PR4 384 Sphingosine 1-phosphate receptor 4; Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes; Sphingosine 1-phosphate receptors 9606.ENSP00000246117 NCLN 563 Nicalin; May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning; Belongs to the nicastrin family 9606.ENSP00000246151 PITHD1 211 PITH domain containing 1 9606.ENSP00000246166 FNTB 437 Protein farnesyltransferase subunit beta; Essential subunit of the farnesyltransferase complex. Catalyzes the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C- terminus of several proteins having the C-terminal sequence Cys- aliphatic-aliphatic-X 9606.ENSP00000246186 MMP24 645 Matrix metalloproteinase-24; Metalloprotease that mediates cleavage of N-cadherin (CDH2) and acts as a regulator of neuro-immune interactions and neural stem cell quiescence. Involved in cell-cell interactions between nociceptive neurites and mast cells, possibly by mediating cleavage of CDH2, thereby acting as a mediator of peripheral thermal nociception and inflammatory hyperalgesia. Key regulator of neural stem cells quiescence by mediating cleavage of CDH2, affecting CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate th [...] 9606.ENSP00000246190 NECAB3 396 N-terminal EF-hand calcium-binding protein 3; Inhibits the interaction of APBA2 with amyloid-beta precursor protein (APP), and hence allows formation of amyloid- beta. May enhance the activity of HIF1A and thus promote glycolysis under normoxic conditions; the function requires its ABM domain and may implicate the stabilization of the interaction between HIF1AN and APBA3; EF-hand domain containing 9606.ENSP00000246194 RALY 306 RNA-binding protein Raly; RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver. Binds the lipid-responsive non-coding RNA LeXis and is required for LeXis-mediated effect on cholesterogenesis (By similarity). May be a heterogeneous nuclear ribonucleoprotein (hnRNP); Belongs to the RRM HNRPC family. RALY subfamily 9606.ENSP00000246229 PLAGL2 496 Zinc finger protein PLAGL2; Shows weak transcriptional activatory activity; Zinc fingers C2H2-type 9606.ENSP00000246337 UROD 367 Uroporphyrinogen decarboxylase; Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III 9606.ENSP00000246421 SLC35E2 266 Solute carrier family 35 member E2; Putative transporter; Solute carriers 9606.ENSP00000246515 SLURP1 103 Secreted Ly-6/uPAR-related protein 1; Has an antitumor activity. Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin. In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner. In T cells may be involved in regulation of intracellular Ca(2+) signaling. Seems to have a immunomodulatory functio [...] 9606.ENSP00000246532 IGFLR1 355 IGF-like family receptor 1; Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind IGFL2 9606.ENSP00000246533 CAPNS1 268 Calpain small subunit 1; Regulatory subunit of the calcium-regulated non- lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction; EF-hand domain containing 9606.ENSP00000246535 PDCD2L 358 Programmed cell death protein 2-like; Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase 9606.ENSP00000246548 UBA2 640 SUMO-activating enzyme subunit 2; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2; Ubiquitin like modifier activating enzymes 9606.ENSP00000246551 HCST 93 Hematopoietic cell signal transducer; Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST trigge [...] 9606.ENSP00000246553 FFAR1 300 Free fatty acid receptor 1; G-protein coupled receptor for medium and long chain saturated and unsaturated fatty acids that plays an important role in glucose homeostasis. Fatty acid binding increases glucose- stimulated insulin secretion, and may also enhance the secretion of glucagon-like peptide 1 (GLP-1). May also play a role in bone homeostasis; receptor signaling activates pathways that inhibit osteoclast differentiation (By similarity). Ligand binding leads to a conformation change that triggers signaling via G-proteins that activate phospholipase C, leading to an increase of th [...] 9606.ENSP00000246554 COX6B1 86 Cytochrome c oxidase subunit 6B1; Connects the two COX monomers into the physiological dimeric form; Mitochondrial complex IV: cytochrome c oxidase subunits 9606.ENSP00000246635 KRT13 458 Keratin, type I cytoskeletal 13; Keratins, type I 9606.ENSP00000246646 KRT38 456 Keratin, type I cuticular Ha8; Keratins, type I; Belongs to the intermediate filament family 9606.ENSP00000246657 CCR7 378 C-C chemokine receptor type 7; Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000246662 KRT9 623 Keratin, type I cytoskeletal 9; May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly; Belongs to the intermediate filament family 9606.ENSP00000246672 NR1D1 614 Nuclear receptor subfamily 1 group D member 1; Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARTNL/BMAL1, CLOCK and CRY1. Also regulates genes involved in metabolic functions, including lipid and bile acid metabolism, adipogenesis, gluconeogenesis and the macrophage inflammatory response. Acts as a receptor for [...] 9606.ENSP00000246747 ARL2 184 ADP-ribosylation factor-like protein 2; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the eff [...] 9606.ENSP00000246792 RRAS 218 Ras-related protein R-Ras; Regulates the organization of the actin cytoskeleton. With OSPBL3, modulates integrin beta-1 (ITGB1) activity; Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000246794 PRRG2 202 Transmembrane gamma-carboxyglutamic acid protein 2; Proline rich and Gla domain containing 9606.ENSP00000246801 TSKS 592 Testis-specific serine kinase substrate; May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development; Protein phosphatase 1 regulatory subunits 9606.ENSP00000246802 GLTSCR2 478 Ribosome biogenesis protein NOP53; Nucleolar protein which is involved in the integration of the 5S RNP into the ribosomal large subunit during ribosome biogenesis. In ribosome biogenesis, may also play a role in rRNA transcription. Also functions as a nucleolar sensor that regulates the activation of p53/TP53 in response to ribosome biogenesis perturbation, DNA damage and other stress conditions. DNA damage or perturbation of ribosome biogenesis disrupt the interaction between NOP53 and RPL11 allowing RPL11 transport to the nucleoplasm where it can inhibit MDM2 and allow p53/TP53 acti [...] 9606.ENSP00000246841 FLRT1 674 Leucine-rich repeat transmembrane protein FLRT1; Plays a role in fibroblast growth factor-mediated signaling cascades that lead to the activation of MAP kinases. Promotes neurite outgrowth via FGFR1-mediated activation of downstream MAP kinases. Promotes an increase both in neurite number and in neurite length. May play a role in cell-cell adhesion and cell guidance via its interaction with ADGRL1/LPHN1 and ADGRL3; Fibronectin type III domain containing 9606.ENSP00000246868 SBDS 250 Ribosome maturation protein SBDS; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prolife [...] 9606.ENSP00000246891 CSN1S1 185 Alpha-S1-casein; Important role in the capacity of milk to transport calcium phosphate; Belongs to the alpha-casein family 9606.ENSP00000246895 STATH 62 Statherin; Salivary protein that stabilizes saliva supersaturated with calcium salts by inhibiting the precipitation of calcium phosphate salts. It also modulates hydroxyapatite crystal formation on the tooth surface; Histatins and statherin 9606.ENSP00000246912 MLX 298 Max-like protein X; Transcription regulator. Forms a sequence-specific DNA- binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5'-CACGTG-3'. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation; Basic helix-loop-helix proteins 9606.ENSP00000246914 WNK4 1243 Serine/threonine-protein kinase WNK4; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-in [...] 9606.ENSP00000246957 TRAP1 704 Heat shock protein 75 kDa, mitochondrial; Chaperone that expresses an ATPase activity. Involved in maintaining mitochondrial function and polarization, downstream of PINK1 and mitochondrial complex I. Is a negative regulator of mitochondrial respiration able to modulate the balance between oxidative phosphorylation and aerobic glycolysis. The impact of TRAP1 on mitochondrial respiration is probably mediated by modulation of mitochondrial SRC and inhibition of SDHA; Belongs to the heat shock protein 90 family 9606.ENSP00000247001 SUGP1 645 SURP and G-patch domain-containing protein 1; Plays a role in pre-mRNA splicing; G-patch domain containing 9606.ENSP00000247003 DDX49 483 Probable ATP-dependent RNA helicase DDX49; DEAD-box helicase 49; Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily 9606.ENSP00000247005 GDF1 372 Growth differentiation factor 1; May mediate cell differentiation events during embryonic development; Endogenous ligands 9606.ENSP00000247020 SDF2 211 Stromal cell derived factor 2 9606.ENSP00000247026 NSRP1 558 Nuclear speckle splicing regulatory protein 1; RNA-binding protein that mediates pre-mRNA alternative splicing regulation 9606.ENSP00000247153 CFP 469 Properdin; A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes 9606.ENSP00000247178 ATG14 492 Beclin 1-associated autophagy-related key regulator; Required for both basal and inducible autophagy. Determines the localization of the autophagy-specific PI3-kinase complex PI3KC3-C1. Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine. Promotes BECN1 translocation from the trans-Golgi network to autophagosomes. Enhances PIK3C3 activity in a BECN1-dependent manner. Essential for the autophagy-dependent phosphorylation of BECN1. Stimulates the phosphorylation of BECN1, but suppresses the phosphorylation PIK3C3 by AMPK. Binds to STX17-SNAP29 [...] 9606.ENSP00000247182 SIX1 284 Homeobox protein SIX1; Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the expression of nume [...] 9606.ENSP00000247191 DLGAP5 846 Disks large-associated protein 5; Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells 9606.ENSP00000247194 L3HYPDH 354 Trans-3-hydroxy-L-proline dehydratase; Catalyzes the dehydration of trans-3-hydroxy-L-proline to Delta(1)-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it 9606.ENSP00000247219 TBPL2 375 TATA box-binding protein-like protein 2; Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity); Belongs to the TBP family 9606.ENSP00000247225 SGPP1 441 Sphingosine-1-phosphate phosphatase 1; Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P. Does not act on ceramide 1- phoshate, lysophosphatidic acid or phosphatidic acid. Regulates the intracellular levels of the bioactive sphingolipid metabolite S1P that regulates diverse biological processes acting both as an extracellular receptor ligand or as an intracellular second messenger. Involved in efficient ceramide synthesis from exogenous sphingoid bases. Converts S1P to sphingosine, which is readily metabolized to ceramide via ceramide synthase. In [...] 9606.ENSP00000247226 PLEKHG3 1163 Pleckstrin homology and RhoGEF domain containing G3 9606.ENSP00000247270 EVI2A 259 Protein EVI2A; May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor 9606.ENSP00000247271 OMG 440 Oligodendrocyte-myelin glycoprotein; Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system 9606.ENSP00000247306 CTAG2 210 Cancer/testis antigen 2 9606.ENSP00000247461 CANX 592 Calnexin; Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor- mediated endocytosis at [...] 9606.ENSP00000247470 PYCARD 195 Apoptosis-associated speck-like protein containing a CARD; Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspa [...] 9606.ENSP00000247665 PHPT1 125 14 kDa phosphohistidine phosphatase; Exhibits phosphohistidine phosphatase activity; Protein phosphatases 9606.ENSP00000247668 TRAF2 501 TNF receptor-associated factor 2; Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'- linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin- protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein level [...] 9606.ENSP00000247706 ABHD8 439 Protein ABHD8; Abhydrolase domain containing 8; Belongs to the AB hydrolase superfamily 9606.ENSP00000247815 HELB 1087 DNA helicase B; 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection. Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB. As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation. Acts independently of TP53BP1. Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP [...] 9606.ENSP00000247843 YEATS4 227 YEATS domain-containing protein 4; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and repl [...] 9606.ENSP00000247879 TAS2R3 316 Taste receptor type 2 member 3; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 9606.ENSP00000247881 TAS2R4 299 Taste receptor type 2 member 4; Gustducin-coupled receptor for denatonium and N(6)- propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency 9606.ENSP00000247883 TAS2R5 299 Taste receptor type 2 member 5; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000247930 ZNF777 831 Zinc finger protein 777; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000247933 IDUA 653 Alpha-L-iduronidase; Iduronidase, alpha-L- 9606.ENSP00000247956 ZNF317 595 Zinc finger protein 317; May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation; Zinc fingers C2H2-type 9606.ENSP00000247970 PIN1 163 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1; Peptidyl-prolyl cis/trans isomerase (PPIase) that binds to and isomerizes specific phosphorylated Ser/Thr-Pro (pSer/Thr- Pro) motifs. By inducing conformational changes in a subset of phosphorylated proteins, acts as a molecular switch in multiple cellular processes. Displays a preference for acidic residues located N-terminally to the proline bond to be isomerized. Regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Down-regulates kinase activity of BTK. Can transactivate multiple [...] 9606.ENSP00000247977 FBXL12 326 F-box/LRR-repeat protein 12; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Mediates the polyubiquitination and proteasomal degradation of CAMK1 leading to disruption of cyclin D1/CDK4 complex assembly which results in G1 cell cycle arrest in lung epithelia; F-box and leucine rich repeat proteins 9606.ENSP00000247986 KIF17 1029 Kinesin-like protein KIF17; Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family 9606.ENSP00000247992 PLA2G2C 150 Putative inactive group IIC secretory phospholipase A2; Inactive phospholipase; Phospholipases 9606.ENSP00000248058 OR7A10 309 Olfactory receptor 7A10; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000248071 KLF2 355 Krueppel-like factor 2; Transcription factor that binds to the CACCC box in the promoter of target genes such as HBB/beta globin or NOV and activates their transcription; Kruppel like factors 9606.ENSP00000248072 OR7C2 319 Olfactory receptor 7C2; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000248073 OR7C1 320 Olfactory receptor 7C1; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000248076 F2RL3 385 Proteinase-activated receptor 4; Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000248089 HCFC1R1 138 Host cell factor C1 regulator 1; Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1 required for import of virion-derived VP16 into the nucleus 9606.ENSP00000248098 HN1L 190 Jupiter microtubule associated homolog 2; Hematological and neurological expressed 1-like; Belongs to the JUPITER family 9606.ENSP00000248114 GFER 205 FAD-linked sulfhydryl oxidase ALR; Isoform 1: FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re- oxidized by donating electrons to cytochrome c or molecular oxygen 9606.ENSP00000248121 SYNGR3 229 Synaptogyrin-3; May play a role in regulated exocytosis. May indirectly regulate the activity of the plasma membrane dopamine transporter SLC6A3 and thereby regulate dopamine transport back from the synaptic cleft into the presynaptic terminal; Belongs to the synaptogyrin family 9606.ENSP00000248150 GNG13 67 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000248211 ZNF10 573 Zinc finger protein 10; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000248244 TICAM1 712 TIR domain-containing adapter molecule 1; Involved in innate immunity against invading pathogens. Adapter used by TLR3 and TLR4 (through TICAM2) to mediate NF- kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis. Ligand binding to these receptors results in TRIF recruitment through its TIR domain. Distinct protein- interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively 9606.ENSP00000248248 MON1B 547 MON1 homolog B, secretory trafficking associated; Belongs to the MON1/SAND family 9606.ENSP00000248306 METTL25 603 Methyltransferase-like protein 25; Putative methyltransferase 9606.ENSP00000248342 EIF3K 218 Eukaryotic translation initiation factor 3 subunit K; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000248384 OR1E2 323 Olfactory receptor 1E2; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000248437 TUBA4A 448 Tubulin alpha-4A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Tubulins 9606.ENSP00000248444 VIL1 827 Villin-1; Epithelial cell-specific Ca(2+)-regulated actin- modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the int [...] 9606.ENSP00000248450 AAMP 434 Angio-associated migratory cell protein; Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway; WD repeat domain containing 9606.ENSP00000248553 HSPB1 205 Heat shock protein beta-1; Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding- competent state. Plays a role in stress resistance and actin organization. Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins 9606.ENSP00000248564 GNG11 73 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000248572 GNGT1 74 Guanine nucleotide-binding protein G(T) subunit gamma-T1; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000248594 PTPN12 780 Tyrosine-protein phosphatase non-receptor type 12; Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades. Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2. Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248'; Protein tyrosine phosphatases, non-receptor type 9606.ENSP00000248598 FGL2 439 Fibroleukin; May play a role in physiologic lymphocyte functions at mucosal sites; Fibrinogen C domain containing 9606.ENSP00000248600 STYXL1 313 Serine/threonine/tyrosine-interacting-like protein 1; Probable pseudophosphatase. Contains a Ser residue instead of a conserved Cys residue in the dsPTPase catalytic loop which probably renders it catalytically inactive as a phosphatase. The binding pocket may be however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases; MAP kinase phosphatases 9606.ENSP00000248633 PEX1 1283 Peroxisome biogenesis factor 1; Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes 9606.ENSP00000248643 MTERF1 399 Transcription termination factor 1, mitochondrial; Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand; Belongs to the mTERF family 9606.ENSP00000248668 LRFN1 771 Leucine-rich repeat and fibronectin type III domain-containing protein 1; Promotes neurite outgrowth in hippocampal neurons. Involved in the regulation and maintenance of excitatory synapses. Induces the clustering of excitatory postsynaptic proteins, including DLG4, DLGAP1, GRIA1 and GRIN1 (By similarity); Fibronectin type III domain containing 9606.ENSP00000248706 RASL11B 248 Ras-like protein family member 11B; RAS like family 11 member B 9606.ENSP00000248846 TUBGCP6 1819 Gamma-tubulin complex component 6; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome 9606.ENSP00000248879 DGCR6L 220 Protein DGCR6L; May play a role in neural crest cell migration into the third and fourth pharyngeal pouches; Belongs to the gonadal family 9606.ENSP00000248901 CYTH4 394 Cytohesin-4; Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP; Pleckstrin homology domain containing 9606.ENSP00000248929 SGSM3 749 Small G protein signaling modulator 3; May play a cooperative role in NF2-mediated growth suppression of cells; Small G protein signaling modulators 9606.ENSP00000248933 SEZ6L 1024 Seizure 6-like protein; May contribute to specialized endoplasmic reticulum functions in neurons; Sushi domain containing 9606.ENSP00000248948 VPREB3 123 Pre-B lymphocyte protein 3; Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells; V-set domain containing 9606.ENSP00000248958 SDF2L1 221 Stromal cell derived factor 2 like 1 9606.ENSP00000248975 YWHAH 246 14-3-3 protein eta; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1; 14-3-3 phospho-serine/phospho-threonine binding proteins 9606.ENSP00000248984 C22orf24 160 Uncharacterized protein C22orf24; Chromosome 22 open reading frame 24 9606.ENSP00000249007 RFPL3 317 Ret finger protein-like 3; (Microbial infection) Stimulates the activity of Human Immunodeficiency Virus 1/HIV-1 pre-integration complex; Ring finger proteins 9606.ENSP00000249014 CDC42EP1 391 Cdc42 effector protein 1; Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts; CDC42 effector proteins 9606.ENSP00000249016 MCHR1 422 Melanin-concentrating hormone receptor 1; Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000249041 GALR3 368 Galanin receptor type 3; Receptor for the hormone galanin. Receptor for the hormone spexin-1 9606.ENSP00000249044 APOL5 433 Apolipoprotein L5; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles; Apolipoproteins 9606.ENSP00000249064 CCDC117 279 Coiled-coil domain containing 117 9606.ENSP00000249066 APOL2 337 Apolipoprotein L2; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles; Apolipoproteins 9606.ENSP00000249071 RAC2 192 Ras-related C3 botulinum toxin substrate 2; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase 9606.ENSP00000249075 LIF 202 Leukemia inhibitory factor; LIF has the capacity to induce terminal differentiation in leukemic cells. Its activities include the induction of hematopoietic differentiation in normal and myeloid leukemia cells, the induction of neuronal cell differentiation, and the stimulation of acute-phase protein synthesis in hepatocytes; Endogenous ligands 9606.ENSP00000249079 C22orf23 217 UPF0193 protein EVG1; Chromosome 22 open reading frame 23 9606.ENSP00000249269 PMPCB 489 Mitochondrial-processing peptidase subunit beta; Cleaves presequences (transit peptides) from mitochondrial protein precursors; M16 metallopeptidases 9606.ENSP00000249284 TAS2R16 291 Taste receptor type 2 member 16; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5; Taste 2 receptors 9606.ENSP00000249299 LSM8 96 U6 snRNA-associated Sm-like protein LSm8; Binds specifically to the 3'-terminal U-tract of U6 snRNA and is probably a component of the spliceosome; Belongs to the snRNP Sm proteins family 9606.ENSP00000249330 VGF 615 Neurosecretory protein VGF; May be involved in the regulation of cell-cell interactions or in synatogenesis during the maturation of the nervous system; Granins 9606.ENSP00000249344 STRIP2 834 Striatin-interacting protein 2; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape; Belongs to the STRIP family 9606.ENSP00000249356 DNAJB9 223 DnaJ homolog subfamily B member 9; Involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Acts as a co-chaperone with an Hsp70 protein; DNAJ heat shock proteins 9606.ENSP00000249363 LRRC4 653 Leucine-rich repeat-containing protein 4; Synaptic adhesion protein. Regulates the formation of exitatory synapses through the recruitment of pre-and-postsynaptic proteins. Organize the lamina/pathway-specific differentiation of dendrites. Plays a important role for auditory synaptic responses. Involved in the suppression of glioma (By similarity); I-set domain containing 9606.ENSP00000249373 SMO 787 Smoothened homolog; G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia. Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity) 9606.ENSP00000249389 OPN1SW 348 Short-wave-sensitive opsin 1; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily 9606.ENSP00000249396 SIRT2 389 NAD-dependent protein deacetylase sirtuin-2; NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and alpha-tubulin as well as many other proteins such as key transcription factors. Participates in the modulation of multiple and diverse biological processes such as cell cycle control, genomic integrity, microtubule dynamics, cell differentiation, metabolic networks, and autophagy. Plays a major role in the control of cell cycle progression and genomic stability. Functions in the antephase checkpoint preventing precocious mitotic entry in response to microtu [...] 9606.ENSP00000249442 MTX2 263 Metaxin-2; Involved in transport of proteins into the mitochondrion 9606.ENSP00000249499 HOXD9 352 Homeobox protein Hox-D9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000249501 HOXD10 340 Homeobox protein Hox-D10; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family 9606.ENSP00000249504 HOXD11 338 Homeobox protein Hox-D11; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000249636 PIAS1 651 E3 SUMO-protein ligase PIAS1; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Together with PRMT1, may repress STAT1 transcriptional activity, in th [...] 9606.ENSP00000249647 SNAP23 211 Synaptosomal-associated protein 23; Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion; Belongs to the SNAP-25 family 9606.ENSP00000249700 TMOD2 351 Tropomodulin-2; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity); Tropomodulins 9606.ENSP00000249749 DLL4 685 Delta-like protein 4; Involved in the Notch signaling pathway as Notch ligand. Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate 9606.ENSP00000249750 ALDH1A2 518 Retinal dehydrogenase 2; Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently (By similarity); Belongs to the aldehyde dehydrogenase family 9606.ENSP00000249776 KNSTRN 316 Small kinetochore-associated protein; Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase. Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule- kinetochore attachments. Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule [...] 9606.ENSP00000249806 CLN6 311 CLN6, transmembrane ER protein 9606.ENSP00000249842 ISLR 428 Immunoglobulin superfamily containing leucine rich repeat; I-set domain containing 9606.ENSP00000249861 THAP10 257 THAP domain containing 10 9606.ENSP00000249887 ACKR4 350 Atypical chemokine receptor 4; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Chemokine-binding does not activate G-protein-mediated signal transduction but instead induces beta-arrestin [...] 9606.ENSP00000249910 MBD4 580 Methyl-CpG-binding domain protein 4; Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein 9606.ENSP00000249923 COPB1 953 Coatomer subunit beta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also infl [...] 9606.ENSP00000250003 MYOD1 320 Myoblast determination protein 1; Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity) 9606.ENSP00000250018 TPH1 444 Tryptophan hydroxylase 1 9606.ENSP00000250056 FAM64A 248 Protein PIMREG; During mitosis, may play a role in the control of metaphase-to-anaphase transition 9606.ENSP00000250076 ZNF232 444 Zinc finger protein 232; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000250092 CD68 354 Macrosialin; Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells; Belongs to the LAMP family 9606.ENSP00000250101 TXNDC17 123 Thioredoxin domain-containing protein 17; Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide; Belongs to the thioredoxin family 9606.ENSP00000250111 ATP1B2 290 Sodium/potassium-transporting ATPase subunit beta-2; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known; ATPase Na+/K+ transporting subunits 9606.ENSP00000250113 FXR2 673 Fragile X mental retardation syndrome-related protein 2; RNA-binding protein 9606.ENSP00000250124 MPDU1 247 Mannose-P-dolichol utilization defect 1 protein; Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors; Belongs to the MPDU1 (TC 2.A.43.3) family 9606.ENSP00000250160 WISP1 367 WNT1-inducible-signaling pathway protein 1; Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan; Belongs to the CCN family 9606.ENSP00000250237 QTRT1 403 Queuine tRNA-ribosyltransferase catalytic subunit 1; Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis- dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, formi [...] 9606.ENSP00000250244 AP1M2 423 AP-1 complex subunit mu-2; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules 9606.ENSP00000250340 CLEC11A 323 C-type lectin domain family 11 member A; Promotes osteogenesis by stimulating the differentiation of mesenchymal progenitors into mature osteoblasts. Important for repair and maintenance of adult bone (By similarity); C-type lectin domain containing 9606.ENSP00000250351 KLK12 254 Kallikrein-12; Kallikrein related peptidase 12; Belongs to the peptidase S1 family. Kallikrein subfamily 9606.ENSP00000250378 CMA1 247 Chymase; Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion 9606.ENSP00000250405 BCL2L2 193 Bcl-2-like protein 2; Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX; Belongs to the Bcl-2 family 9606.ENSP00000250416 PARP2 583 Poly [ADP-ribose] polymerase 2; Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. Mediates serine ADP-ribosylation of target proteins following interaction with HPF1; HPF1 conferring serine specificity; Poly(ADP-ribose) polymerases 9606.ENSP00000250448 FOXA1 472 Hepatocyte nuclear factor 3-alpha; Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). Proposed to play a role in translating the epigenetic signatures [...] 9606.ENSP00000250454 EAPP 285 E2F-associated phosphoprotein; May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression 9606.ENSP00000250457 EGLN3 239 Egl nine homolog 3; Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for proteasomal degradation via the v [...] 9606.ENSP00000250495 NEDD8 81 NEDD8; Ubiquitin-like protein which plays an important role in cell cycle control and embryogenesis. Covalent attachment to its substrates requires prior activation by the E1 complex UBE1C- APPBP1 and linkage to the E2 enzyme UBE2M. Attachment of NEDD8 to cullins activates their associated E3 ubiquitin ligase activity, and thus promotes polyubiquitination and proteasomal degradation of cyclins and other regulatory proteins 9606.ENSP00000250498 DAD1 113 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1; Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation. Loss of the DAD1 protein triggers apoptosis; Belongs to the DAD/OST2 family 9606.ENSP00000250535 CDO1 200 Cysteine dioxygenase type 1; Initiates several important metabolic pathways related to pyruvate and several sulfurate compounds including sulfate, hypotaurine and taurine. Critical regulator of cellular cysteine concentrations. Has an important role in maintaining the hepatic concentation of intracellular free cysteine within a proper narrow range 9606.ENSP00000250559 RAP1B 184 Ras-related protein Rap-1b; GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function; Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000250615 AANAT 252 Serotonin N-acetyltransferase; Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N- acetylserotonin, the penultimate step in the synthesis of melatonin; Belongs to the acetyltransferase family. AANAT subfamily 9606.ENSP00000250617 ARHGEF6 776 Rho guanine nucleotide exchange factor 6; Acts as a RAC1 guanine nucleotide exchange factor (GEF); Pleckstrin homology domain containing 9606.ENSP00000250693 ART1 327 GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1; Has ADP-ribosyltransferase activity toward GLP1R; CD molecules 9606.ENSP00000250699 CHRNA10 450 Neuronal acetylcholine receptor subunit alpha-10; Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducin [...] 9606.ENSP00000250863 DAZL 315 Deleted in azoospermia-like; RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts (By similarity); Belongs to the RRM DAZ family 9606.ENSP00000250894 MAPK8IP3 1336 C-Jun-amino-terminal kinase-interacting protein 3; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity) 9606.ENSP00000250896 MKNK2 465 MAP kinase-interacting serine/threonine-protein kinase 2; Serine/threonine-protein kinase that phosphorylates SFPQ/PSF, HNRNPA1 and EIF4E. May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. Required for mediating PP2A-inhibition-induced EIF4E phosphorylation. Triggers EIF4E shuttling from cytoplasm to nucleus. Isoform 1 displays a high basal kinase activity, but isoform 2 exhibits a very low kinase activity. Acts as a [...] 9606.ENSP00000250916 KLF16 252 Krueppel-like factor 16; Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain (By similarity); Kruppel like factors 9606.ENSP00000250974 ABHD17A 361 Protein ABHD17A; Abhydrolase domain containing 17A 9606.ENSP00000251020 SALL1 1324 Sal-like protein 1; Transcriptional repressor involved in organogenesis; Zinc fingers C2H2-type 9606.ENSP00000251038 ZC3H14 736 Zinc finger CCCH domain-containing protein 14; Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides; Zinc fingers CCCH-type 9606.ENSP00000251047 LMAN1 510 Protein ERGIC-53; Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins 9606.ENSP00000251089 ANGEL1 670 Angel homolog 1; Belongs to the CCR4/nocturin family 9606.ENSP00000251102 CNGB1 1251 Cyclic nucleotide-gated cation channel beta-1; Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP 9606.ENSP00000251108 CDADC1 514 Cytidine and dCMP deaminase domain-containing protein 1; May play an important role in testicular development and spermatogenesis; Belongs to the cytidine and deoxycytidylate deaminase family 9606.ENSP00000251119 ZFYVE26 2539 Zinc finger FYVE domain-containing protein 26; Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair; Zinc fingers FYVE-type 9606.ENSP00000251127 NALCN 1738 Sodium leak channel non-selective protein; Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability. Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by contro [...] 9606.ENSP00000251143 C16orf62 1052 UPF0505 protein C16orf62; Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability; Belongs to the UPF0505 family 9606.ENSP00000251157 DOCK7 2129 Dedicator of cytokinesis protein 7; Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization. Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs [...] 9606.ENSP00000251166 CORO7 925 Coronin-7; F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post- Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology; Belongs to the WD repeat coronin family 9606.ENSP00000251170 SEC14L5 696 SEC14-like protein 5; SEC14 like lipid binding 5; PRELI domain containing 9606.ENSP00000251203 PBX4 374 Pre-B-cell leukemia transcription factor 4; TALE class homeoboxes and pseudogenes; Belongs to the TALE/PBX homeobox family 9606.ENSP00000251241 DHX40 779 Probable ATP-dependent RNA helicase DHX40; Probable ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DEAH subfamily 9606.ENSP00000251250 DTWD1 304 DTW domain containing 1; Belongs to the DTW family 9606.ENSP00000251268 MEGF8 2845 Multiple epidermal growth factor-like domains protein 8; Multiple EGF like domains 8 9606.ENSP00000251269 ZNF221 617 Zinc finger protein 221; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000251287 HCN2 889 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2; Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Can also transport ammonium in the distal nephron. Produces a large instantaneous current. Modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity); Cyclic nucleotide gated channels 9606.ENSP00000251296 IGSF21 467 Immunoglobulin superfamily member 21; Immunoglobulin like domain containing 9606.ENSP00000251303 SLX1A 275 SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae); Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products 9606.ENSP00000251337 GNAT2 354 Guanine nucleotide-binding protein G(t) subunit alpha-2; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase; Belongs to the G-alpha family. G(i/o/t/z) subfamily 9606.ENSP00000251343 KHNYN 678 Protein KHNYN; KH and NYN domain containing; Belongs to the N4BP1 family 9606.ENSP00000251363 CERS4 394 Ceramide synthase 4; May be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing different fatty acid donors (N-linked stearoyl- (C18) or arachidoyl- (C20) ceramides) in a fumonisin B1-independent manner (By similarity); CERS class homeoboxes 9606.ENSP00000251372 LILRA1 489 Leukocyte immunoglobulin-like receptor subfamily A member 1; May act as receptor for class I MHC antigens; Activating leukocyte immunoglobulin like receptors 9606.ENSP00000251377 LILRA2 483 Leukocyte immunoglobulin-like receptor subfamily A member 2; Part of the innate immune responses against microbial infection. Specifically recognizes a set of N-terminally truncated immunoglobulins that are produced via cleavage by proteases from a range of pathogenic bacteria and fungi, including L.pneumophila, M.hyorhinis, S.pneumoniae, S.aureus and C.albicans. Recognizes epitopes that are in part in the variable region of the immunoglobulin light chains, but requires also the constant region for signaling. Binds to a subset of cleaved IgM, IgG3 and IgG4 molecules, but does not bind [...] 9606.ENSP00000251412 TUBG2 451 Tubulin gamma-2 chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation (By similarity); Tubulins 9606.ENSP00000251413 TUBG1 451 Tubulin gamma-1 chain; Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation; Tubulins 9606.ENSP00000251453 RPS16 146 Ribosomal protein S16 9606.ENSP00000251472 MAST1 1570 Microtubule-associated serine/threonine-protein kinase 1; Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity); Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family 9606.ENSP00000251496 NCAPG 1015 Condensin complex subunit 3; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases; Armadillo-like helical domain containing 9606.ENSP00000251507 RABGAP1L 815 Rab GTPase-activating protein 1-like; GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A- GDP. Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous dir [...] 9606.ENSP00000251527 ESYT2 893 Extended synaptotagmin-2; Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP-2 complex; Extended synaptotagmins 9606.ENSP00000251535 ALOX12 663 Arachidonate 12-lipoxygenase, 12S-type; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12S)- hydroperoxyeicosatetraenoic acid/(12S)-HPETE but can also metabolize linoleic acid. Has a dual activity since it also converts leukotriene A4/LTA4 into both the bioactive lipoxin A4/LXA4 and lipoxin B4/LXB4. Through the production of specific bioactive lipids like (12S)-HPETE it regulates different biological processes [...] 9606.ENSP00000251566 UGT2A3 527 UDP-glucuronosyltransferase 2A3; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity) 9606.ENSP00000251582 ADAMTS2 1211 A disintegrin and metalloproteinase with thrombospondin motifs 2; Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000251588 NARFL 476 Cytosolic Fe-S cluster assembly factor NARFL; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect; Belongs to the NARF family 9606.ENSP00000251595 HBA2 142 Hemoglobin subunit alpha 2; Involved in oxygen transport from the lung to the various peripheral tissues; Hemoglobin subunits 9606.ENSP00000251607 TRNT1 434 CCA tRNA nucleotidyltransferase 1, mitochondrial; Isoform 1: Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates 9606.ENSP00000251636 DHX29 1369 ATP-dependent RNA helicase DHX29; ATP-binding RNA helicase involved in translation initiation. Part of the 43S pre-initiation complex that is required for efficient initiation on mRNAs of higher eukaryotes with structured 5'-UTRs by promoting efficient NTPase-dependent 48S complex formation. Specifically binds to the 40S ribosome near the mRNA entrance. Does not possess a processive helicase activity; Belongs to the DEAD box helicase family. DEAH subfamily 9606.ENSP00000251642 DHX58 678 Probable ATP-dependent RNA helicase DHX58; Acts as a regulator of DDX58/RIG-I and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1- dependent signaling events. Can have both negative and positive regulatory functions related to DDX58/RIG-I and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on DDX58/RIG-I signaling may involve the following mechanisms: compe [...] 9606.ENSP00000251643 KRT12 494 Keratin, type I cytoskeletal 12; May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity); Keratins, type I 9606.ENSP00000251645 KRT31 416 Keratin, type I cuticular Ha1; Keratins, type I 9606.ENSP00000251646 KRT33B 404 Keratin, type I cuticular Ha3-II; Keratins, type I; Belongs to the intermediate filament family 9606.ENSP00000251691 KIAA1244 2177 Brefeldin A-inhibited guanine nucleotide-exchange protein 3; Participates in the regulation of systemic glucose homeostasis, where it negatively regulates insulin granule biogenesis in pancreatic islet beta cells (By similarity). Also regulates glucagon granule production in pancreatic alpha cells (By similarity). Inhibits nuclear translocation of the transcriptional coregulator PHB2 and may enhance estrogen receptor alpha (ESR1) transcriptional activity in breast cancer cells 9606.ENSP00000251768 SLC4A5 1137 Electrogenic sodium bicarbonate cotransporter 4; Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH; Solute carriers 9606.ENSP00000251775 SNX4 450 Sorting nexin-4; May be involved in several stages of intracellular trafficking. Plays a role in recycling endocytosed transferrin receptor and prevent its degradation; Belongs to the sorting nexin family 9606.ENSP00000251808 GRHL2 625 Grainyhead-like protein 2 homolog; Transcription factor playing an important role in primary neurulation and in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates e [...] 9606.ENSP00000251810 RRM2B 351 Ribonucleoside-diphosphate reductase subunit M2 B; Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage 9606.ENSP00000251849 RAF1 648 RAF proto-oncogene serine/threonine-protein kinase; Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal-regulated kina [...] 9606.ENSP00000251864 TDRD1 1189 Tudor domain-containing protein 1; Plays a central role during spermatogenesis by participating in the repression transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Required for the localization of Piwi proteins to the meiotic nuage. Involved in the piRNA metabolic process by ensuring the entry of corr [...] 9606.ENSP00000251871 MED17 651 Mediator of RNA polymerase II transcription subunit 17; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000251900 SCML2 700 Sex comb on midleg-like protein 2; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity); MBT domain containing 9606.ENSP00000251921 NXPE1 405 NXPE family member 1; Neurexophilin and PC-esterase domain family member 1; Belongs to the NXPE family 9606.ENSP00000251968 TSG101 390 Tumor susceptibility gene 101 protein; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding [...] 9606.ENSP00000251993 KIAA0930 409 Uncharacterized protein KIAA0930; KIAA0930 9606.ENSP00000252011 DHX35 703 Probable ATP-dependent RNA helicase DHX35; May be involved in pre-mRNA splicing; Belongs to the DEAD box helicase family. DEAH subfamily 9606.ENSP00000252015 TRPC4AP 797 Short transient receptor potential channel 4-associated protein; Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control. The DCX(TRUSS) complex specifically mediates the polyubiquitination and subsequent degradation of MYC. Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome. Involved in JNK activation via its interaction with TRAF2. Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1; Armadill [...] 9606.ENSP00000252032 C20orf194 1177 Uncharacterized protein C20orf194; May act as an effector for ARL3 9606.ENSP00000252037 FKBP6 327 Inactive peptidyl-prolyl cis-trans isomerase FKBP6; Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be re [...] 9606.ENSP00000252050 CUL9 2517 Cullin-9; Core component of a Cul9-RING ubiquitin-protein ligase complex, a complex that mediates ubiquitination and subsequent degradation of BIRC5 and is required to maintain microtubule dynamics and genome integrity. Acts downstream of the 3M complex, which inhibits CUL9 activity, leading to prevent ubiquitination of BIRC5. Cytoplasmic anchor protein in p53/TP53- associated protein complex. Regulates the subcellular localization of p53/TP53 and subsequent function; Armadillo-like helical domain containing 9606.ENSP00000252071 ACTR3C 210 Actin-related protein 3C; May play a role in the suppression of metastatic potential in lung adenoma carcinoma cells; Actin related proteins 9606.ENSP00000252085 PCDHGA12 932 Protocadherin gamma-A12; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000252087 PCDHGC5 944 Protocadherin gamma-C5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000252100 TMCO6 499 Transmembrane and coiled-coil domain-containing protein 6; Armadillo-like helical domain containing 9606.ENSP00000252102 NDUFA2 99 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000252136 TRMT2A 625 tRNA (uracil-5-)-methyltransferase homolog A; May be involved in nucleic acid metabolism and/or modifications; tRNA methyltransferases 9606.ENSP00000252137 DGCR14 476 Protein DGCR14; May be involved in pre-mRNA splicing 9606.ENSP00000252229 MICB 383 MHC class I polypeptide-related sequence B; Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis; Belongs to the MHC class I family. MIC subfamily 9606.ENSP00000252242 KRT5 590 Keratin, type II cytoskeletal 5; Keratins, type II 9606.ENSP00000252244 KRT1 644 Keratin, type II cytoskeletal 1; May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK; Keratins, type II 9606.ENSP00000252245 KRT75 551 Keratin, type II cytoskeletal 75; Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle 9606.ENSP00000252250 KRT6C 564 Keratin, type II cytoskeletal 6C; Keratins, type II; Belongs to the intermediate filament family 9606.ENSP00000252252 KRT6B 564 Keratin, type II cytoskeletal 6B; Keratins, type II; Belongs to the intermediate filament family 9606.ENSP00000252318 GALNT8 637 Probable polypeptide N-acetylgalactosaminyltransferase 8; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA6, and possibly other family members as w [...] 9606.ENSP00000252321 KCNA5 613 Potassium voltage-gated channel subfamily A member 5; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; [...] 9606.ENSP00000252338 FAM155B 472 Transmembrane protein FAM155B; Family with sequence similarity 155 member B; Belongs to the FAM155 family 9606.ENSP00000252445 ELOF1 83 Transcription elongation factor 1 homolog; Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions 9606.ENSP00000252456 CNN1 297 Calponin-1; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity) 9606.ENSP00000252463 ZSCAN10 725 Zinc finger and SCAN domain-containing protein 10; Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5'-[GA]CGCNNGCG[CT]-3' DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4 (By similarity); SCAN domain containing 9606.ENSP00000252483 PVRL2 538 Nectin-2; Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive. Probable cell adhesion protein; Belongs to the nectin family 9606.ENSP00000252486 APOE 317 Apolipoprotein E; Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues; Apolipoproteins 9606.ENSP00000252490 ENSG00000224916 101 APOC4-APOC2 readthrough 9606.ENSP00000252505 ALLC 391 Probable allantoicase; The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals 9606.ENSP00000252506 GADD45G 159 Growth arrest and DNA damage-inducible protein GADD45 gamma; Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK; Belongs to the GADD45 family 9606.ENSP00000252512 XPO7 1087 Exportin-7; Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate ano [...] 9606.ENSP00000252530 FAM98C 349 Protein FAM98C; Family with sequence similarity 98 member C 9606.ENSP00000252542 SAFB2 953 Scaffold attachment factor B2; Binds to scaffold/matrix attachment region (S/MAR) DNA. Can function as an estrogen receptor corepressor and can also inhibit cell proliferation; RNA binding motif containing 9606.ENSP00000252575 NCAN 1321 Neurocan core protein; May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid; Belongs to the aggrecan/versican proteoglycan family 9606.ENSP00000252590 PLVAP 442 Plasmalemma vesicle-associated protein; Involved in the formation of stomatal and fenestral diaphragms of caveolae. May function in microvascular permeability 9606.ENSP00000252593 BST2 180 Bone marrow stromal antigen 2; IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case, their spread as cell-free virions is restricted. Its target viruses belong to diverse families, including retroviridae: h [...] 9606.ENSP00000252595 SLC27A1 646 Long-chain fatty acid transport protein 1; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. The LFCA import appears to be hormone-regulated in a tissue-specific manner. In adipocytes, but not myocytes, insulin induces a rapid translocation of FATP1 from intracellular compartments to the plasma membrane, paralleled by increased LFCA uptake. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane- associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regula [...] 9606.ENSP00000252597 USHBP1 703 Usher syndrome type-1C protein-binding protein 1; USH1 protein network component harmonin binding protein 1; Belongs to the MCC family 9606.ENSP00000252599 COLGALT1 622 Procollagen galactosyltransferase 1; Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen. By acting on collagen glycosylation, facilitates the formation of collagen triple helix; Belongs to the glycosyltransferase 25 family 9606.ENSP00000252602 MRPL34 92 Mitochondrial ribosomal protein L34; Belongs to the bacterial ribosomal protein bL34 family 9606.ENSP00000252603 PGLS 258 6-phosphogluconolactonase; Hydrolysis of 6-phosphogluconolactone to 6- phosphogluconate 9606.ENSP00000252622 LSM7 103 U6 snRNA-associated Sm-like protein LSm7; Binds specifically to the 3'-terminal U-tract of U6 snRNA and is probably a component of the spliceosome; Belongs to the snRNP Sm proteins family 9606.ENSP00000252655 RSPH3 560 Radial spoke head protein 3 homolog; Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia; Belongs to the flagellar radial spoke RSP3 family 9606.ENSP00000252660 MAS1 325 Proto-oncogene Mas; Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of the G-proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade. The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1 9606.ENSP00000252674 MLLT1 559 Protein ENL; Component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA 9606.ENSP00000252677 BMP15 392 Bone morphogenetic protein 15; May be involved in follicular development. Oocyte- specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth; Bone morphogenetic proteins 9606.ENSP00000252699 ACTN4 911 Alpha-actinin-4; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coacti [...] 9606.ENSP00000252711 NDUFA10 355 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000252723 EPO 193 Erythropoietin; Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3; Endogenous ligands 9606.ENSP00000252729 CACNG6 260 Voltage-dependent calcium channel gamma-6 subunit; Thought to stabilize the calcium channel in an inactivated (closed) state; Calcium channel auxiliary gamma subunits 9606.ENSP00000252744 ZSWIM6 1215 Zinc finger SWIM-type containing 6 9606.ENSP00000252797 ZNF764 408 Zinc finger protein 764; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000252799 ZNF747 191 KRAB domain-containing protein ZNF747; Zinc finger protein 747; Zinc fingers C2H2-type 9606.ENSP00000252804 PXDN 1479 Peroxidasin homolog; Displays low peroxidase activity and is likely to participate in H(2)O(2) metabolism and peroxidative reactions in the cardiovascular system. Plays a role in extracellular matrix formation; I-set domain containing 9606.ENSP00000252809 GDF15 308 Growth differentiation factor 15; Belongs to the TGF-beta family 9606.ENSP00000252818 JUND 347 Transcription factor jun-D; Transcription factor binding AP-1 sites; Belongs to the bZIP family. Jun subfamily 9606.ENSP00000252825 HRC 699 Sarcoplasmic reticulum histidine-rich calcium-binding protein; May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle 9606.ENSP00000252826 TRPM4 1214 Transient receptor potential cation channel subfamily M member 4; Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization. While it is activated by increase in intracellular Ca(2+), it is impermeable to it. Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating [...] 9606.ENSP00000252835 OR11H1 326 Olfactory receptor 11H1; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000252840 ZNF557 430 Zinc finger protein 557; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000252891 NUMBL 609 Numb-like protein; Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling pathway. The inhibition of NF- kappa-B a [...] 9606.ENSP00000252934 ATXN10 475 Ataxin-10; Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis; Armadillo-like helical domain containing 9606.ENSP00000252939 CALY 217 Neuron-specific vesicular protein calcyon; Interacts with clathrin light chain A and stimulates clathrin self-assembly and clathrin-mediated endocytosis 9606.ENSP00000252951 HBZ 142 Hemoglobin subunit zeta; The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin 9606.ENSP00000252971 MNX1 401 Motor neuron and pancreas homeobox protein 1; Putative transcription factor involved in pancreas development and function; HOXL subclass homeoboxes 9606.ENSP00000252992 CEP85 762 Centrosomal protein of 85 kDa; Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity; Belongs to the CEP85 family 9606.ENSP00000252996 TAF4 1085 Transcription initiation factor TFIID subunit 4; Part of the TFIID complex, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone; Belongs to the TAF4 family 9606.ENSP00000252997 GATA5 397 Transcription factor GATA-5; Transcription factor required during cardiovascular development. Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer; GATA zinc finger domain containing 9606.ENSP00000252998 RBBP8NL 664 RBBP8 N-terminal-like protein; RBBP8 N-terminal like 9606.ENSP00000252999 LAMA5 3695 Laminin subunit alpha-5; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000253008 PRDM12 367 PR domain zinc finger protein 12; Involved in the positive regulation of histone H3-K9 dimethylation; PR/SET domain family 9606.ENSP00000253023 UBE2M 183 NEDD8-conjugating enzyme Ubc12; Accepts the ubiquitin-like protein NEDD8 from the UBA3- NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation 9606.ENSP00000253024 TRIM28 835 Transcription intermediary factor 1-beta; Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1 (which specifically methylates histone H3 at 'Lys-9' (H3K9me)) to the promoter regions of KRAB target genes. Enhances transcriptional repression by coordinating the increase in H3K9me, the decrease in histone H3 'Lys-9 and 'Lys-14' acetylation (H3K9ac and H3K14ac, respectively) and the disposition of HP1 proteins to silence gene expression [...] 9606.ENSP00000253031 YIPF2 316 Protein YIPF2; Yip1 domain family member 2 9606.ENSP00000253039 EIF2S3 472 Eukaryotic translation initiation factor 2 subunit 3; As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In o [...] 9606.ENSP00000253047 TMEM160 188 Transmembrane protein 160 9606.ENSP00000253048 ZC3H4 1303 Zinc finger CCCH domain-containing protein 4; Armadillo-like helical domain containing 9606.ENSP00000253055 MAP3K10 954 Mitogen-activated protein kinase kinase kinase 10; Activates the JUN N-terminal pathway; Mitogen-activated protein kinase kinase kinases 9606.ENSP00000253063 SESN2 480 Sestrin-2; Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway. This stress-inducible metabolic regulator also plays a role in protection against oxidative and genotoxic stresses. May negatively regulate protein translation in response to endoplasmic reticulum stress, via TORC1. May positively regulate the transcripti [...] 9606.ENSP00000253079 CCDC62 684 Coiled-coil domain-containing protein 62; Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR 9606.ENSP00000253083 HIP1R 1068 Huntingtin-interacting protein 1-related protein; Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3- phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis 9606.ENSP00000253099 MRPL4 311 Mitochondrial ribosomal protein L4; Belongs to the universal ribosomal protein uL4 family 9606.ENSP00000253107 PPAN 473 Suppressor of SWI4 1 homolog; May have a role in cell growth 9606.ENSP00000253108 EIF3G 320 Eukaryotic translation initiation factor 3 subunit G; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...] 9606.ENSP00000253109 ANGPTL6 470 Angiopoietin-related protein 6; May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure; Angiopoietin like 9606.ENSP00000253110 C19orf66 291 Repressor of yield of DENV protein; Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cellular mRNA-binding proteins and viral RNA. Can also limit the replication of hepatitis C virus (HCV), West Nile virus (WNV), Chikungunya virus (CHIKV), herpes simplex virus type 1 (HHV-1) and human adenovirus; Belongs to the RyDEN family 9606.ENSP00000253122 SLC6A8 635 Sodium- and chloride-dependent creatine transporter 1; Required for the uptake of creatine in muscles and brain; Solute carriers 9606.ENSP00000253144 ZNF331 463 Zinc finger protein 331; May be involved in transcriptional regulation. May play a role in spermatogenesis; Zinc fingers C2H2-type 9606.ENSP00000253159 ZNF236 1845 Zinc finger protein 236; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000253188 SLC7A10 523 Asc-type amino acid transporter 1; Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse; Belongs to the amino acid-polyamine-organocation (APC) superfamily 9606.ENSP00000253193 LRP3 770 Low-density lipoprotein receptor-related protein 3; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. Its precise role is however unclear, since it does not bind to very low density lipoprotein (VLDL) or to LRPAP1 in vitro; Belongs to the LDLR family 9606.ENSP00000253233 C12orf65 166 Probable peptide chain release factor C12orf65, mitochondrial; May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion. May help rescuing stalled mitoribosomes during translation (By similarity) 9606.ENSP00000253237 GRWD1 446 Glutamate-rich WD repeat-containing protein 1; Histone binding-protein that regulates chromatin dynamics and minichromosome maintenance (MCM) loading at replication origins, possibly by promoting chromatin openness; WD repeat domain containing 9606.ENSP00000253247 NOL11 719 Nucleolar protein 11; Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b; UTPa subcomplex 9606.ENSP00000253255 PKDREJ 2253 Polycystic kidney disease and receptor for egg jelly-related protein; May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved in initiating the acrosome reaction of the sperm; Belongs to the polycystin family 9606.ENSP00000253262 NUTM2F 756 NUT family member 2F; Belongs to the NUT family 9606.ENSP00000253270 SLC35D2 337 UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter; Antiporter transporting nucleotide sugars such as UDP-N- acetylglucosamine (UDP-GlcNAc), UDP-glucose (UDP-Glc) and GDP- mannose (GDP-Man) pooled in the cytosol into the lumen of the Golgi in exchange for the corresponding nucleosides monophosphates (UMP for UDP-sugars and GMP for GDP-sugars). May take part in heparan sulfate synthesis by supplying UDP-Glc-NAc, the donor substrate, and thus be involved in growth factor signaling; Solute carriers 9606.ENSP00000253329 PPIL4 492 Peptidyl-prolyl cis-trans isomerase-like 4; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIL4 subfamily 9606.ENSP00000253354 BPIFB1 484 BPI fold-containing family B member 1; May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS; Belongs to the BPI/LBP/Plunc superfamily. Plunc family 9606.ENSP00000253362 BPIFA2 249 BPI fold-containing family A member 2; Has strong antibacterial activity against P. aeruginosa; Belongs to the BPI/LBP/Plunc superfamily. Plunc family 9606.ENSP00000253363 RBM39 530 RNA-binding protein 39; Transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1 (By similarity). May be involved in pre-mRNA splicing process; RNA binding motif containing 9606.ENSP00000253381 DEFB118 123 Beta-defensin 118; Has antibacterial activity; Defensins, beta 9606.ENSP00000253382 ACSS2 714 Acetyl-coenzyme A synthetase, cytoplasmic; Activates acetate so that it can be used for lipid synthesis or for energy generation; Acyl-CoA synthetase family 9606.ENSP00000253401 ARHGEF9 516 Rho guanine nucleotide exchange factor 9; Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters; Pleckstrin homology domain containing 9606.ENSP00000253407 C1QL1 258 C1q-related factor; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity); C1q and TNF related 9606.ENSP00000253410 HIGD1B 99 HIG1 hypoxia inducible domain family member 1B 9606.ENSP00000253413 ATP6V1E1 226 V-type proton ATPase subunit E 1; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; V-type ATPases 9606.ENSP00000253457 EMC8 210 ER membrane protein complex subunit 8 9606.ENSP00000253458 GSE1 1217 Genetic suppressor element 1; Gse1 coiled-coil protein 9606.ENSP00000253462 GINS2 185 DNA replication complex GINS protein PSF2; The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single- stranded DNA 9606.ENSP00000253496 F12 615 Coagulation factor XII; Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta- factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa 9606.ENSP00000253577 ABCB7 753 ATP-binding cassette sub-family B member 7, mitochondrial; Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins; ATP binding cassette subfamily B 9606.ENSP00000253669 HAUS8 410 HAUS augmin-like complex subunit 8; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex 9606.ENSP00000253673 EMR3 652 Adhesion G protein-coupled receptor E3; Orphan receptor that may play a role myeloid-myeloid interactions during immune and inflammatory responses. A ligand for the soluble form of this receptor is present at the surface of monocytes-derived macrophages and activated neutrophils; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000253686 MRPS25 173 Mitochondrial ribosomal protein S25 9606.ENSP00000253693 CAPN7 813 Calpain-7; Calcium-regulated non-lysosomal thiol-protease; Belongs to the peptidase C2 family 9606.ENSP00000253697 C3orf20 904 Uncharacterized protein C3orf20; Chromosome 3 open reading frame 20 9606.ENSP00000253699 ZFYVE20 784 Rabenosyn-5; Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3). Plays a role in the recycling of transferrin receptor to the plasma membrane 9606.ENSP00000253719 NAPSA 420 Napsin-A; May be involved in processing of pneumocyte surfactant precursors 9606.ENSP00000253727 NR1H2 460 Oxysterols receptor LXR-beta; Nuclear receptor. Binds preferentially to double- stranded oligonucleotide direct repeats having the consensus half- site sequence 5'-AGGTCA-3' and 4-nt spacing (DR-4). Regulates cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8; DLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Exhibits a ligand-dependent transcriptional activation activity; Belongs to the nuclear hormone receptor family. NR1 subfamily 9606.ENSP00000253754 PDLIM4 330 PDZ and LIM domain protein 4; Isoform 1: Suppresses SRC activation by recognizing and binding to active SRC and facilitating PTPN13-mediated dephosphorylation of SRC 'Tyr-419' leading to its inactivation. Inactivated SRC dissociates from this protein allowing the initiation of a new SRC inactivation cycle. Involved in reorganization of the actin cytoskeleton. In nonmuscle cells, binds to ACTN1 (alpha- actinin-1), increases the affinity of ACTN1 to F-actin (filamentous actin), and promotes formation of actin stress fibers. Involved in regulation of the synaptic AMPA receptor transport i [...] 9606.ENSP00000253778 GFPT2 682 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins 9606.ENSP00000253792 ACLY 1101 ATP-citrate synthase; ATP-citrate synthase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. Has a central role in de novo lipid synthesis. In nervous tissue it may be involved in the biosynthesis of acetylcholine; In the N-terminal section; belongs to the succinate/malate CoA ligase beta subunit family 9606.ENSP00000253794 VPS25 176 Vacuolar protein-sorting-associated protein 25; Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in f [...] 9606.ENSP00000253796 RAMP2 175 Receptor activity-modifying protein 2; Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL; Belongs to the RAMP family 9606.ENSP00000253799 AOC2 756 Retina-specific copper amine oxidase; Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina 9606.ENSP00000253801 G6PC 357 Glucose-6-phosphatase; Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels; Belongs to the glucose-6-phosphatase family 9606.ENSP00000253807 PCDHAC1 963 Protocadherin alpha-C1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000253812 PCDHGA3 932 Protocadherin gamma-A3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000253814 NDFIP1 221 NEDD4 family-interacting protein 1; Activates HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 and ITCH, and consequently modulates the stability of their targets. As a result, controls many cellular processes. Prevents chronic T-helper cell-mediated inflammation by activating ITCH and thus controlling JUNB degradation (By similarity). Promotes pancreatic beta cell death through degradation of JUNB and inhibition of the unfolded protein response, leading to reduction of insulin secretion. Restricts the production of proinflammatory cytokines in effector Th17 T-cells [...] 9606.ENSP00000253861 EXOC4 974 Exocyst complex component 4; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane 9606.ENSP00000253925 PPFIA1 1202 Liprin-alpha-1; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates; Sterile alpha motif domain containing 9606.ENSP00000253968 BARX1 254 Homeobox protein BarH-like 1; Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000254029 WDR44 913 WD repeat-containing protein 44; Downstream effector for RAB11. May be involved in vesicle recycling (By similarity); WD repeat domain containing 9606.ENSP00000254037 ZCCHC9 271 Zinc finger CCHC domain-containing protein 9; May down-regulate transcription mediated by NF-kappa-B and the serum response element; Protein phosphatase 1 regulatory subunits 9606.ENSP00000254043 KRT15 456 Keratin, type I cytoskeletal 15; Keratins, type I 9606.ENSP00000254051 TNS4 715 Tensin-4; May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton (By similarity). May promote apoptosis, via its cleavage by caspase-3; SH2 domain containing 9606.ENSP00000254066 RARA 462 Retinoic acid receptor alpha; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone acetylation, chromatin condensation and transcript [...] 9606.ENSP00000254072 KRTAP9-8 159 Keratin-associated protein 9-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000254079 PPP1R1B 204 Protein phosphatase 1 regulatory subunit 1B; Inhibitor of protein-phosphatase 1 9606.ENSP00000254090 FMO5 533 Dimethylaniline monooxygenase [N-oxide-forming] 5; In contrast with other forms of FMO it does not seem to be a drug-metabolizing enzyme 9606.ENSP00000254101 PRKAB2 272 5'-AMP-activated protein kinase subunit beta-2; Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a reg [...] 9606.ENSP00000254108 FUS 526 RNA-binding protein FUS; Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single- stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity; Belongs to the RRM TET family 9606.ENSP00000254166 ZNF132 706 Zinc finger protein 132; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000254181 USP29 922 Ubiquitin specific peptidase 29 9606.ENSP00000254190 CHSY1 802 Chondroitin sulfate synthase 1; Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling 9606.ENSP00000254193 SNRPA1 255 U2 small nuclear ribonucleoprotein A; This protein is associated with sn-RNP U2. It helps the A' protein to bind stem loop IV of U2 snRNA; Belongs to the U2 small nuclear ribonucleoprotein A family 9606.ENSP00000254227 NR0B2 257 Nuclear receptor subfamily 0 group B member 2; Acts as a transcriptional regulator. Acts as a negative regulator of receptor-dependent signaling pathways. Specifically inhibits transactivation of the nuclear receptor with whom it interacts. Inhibits transcriptional activity of NEUROD1 on E-box- containing promoter by interfering with the coactivation function of the p300/CBP-mediated transcription complex for NEUROD1; Nuclear hormone receptors 9606.ENSP00000254250 THAP1 213 THAP domain-containing protein 1; DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. May also have pro-apoptopic activity by potentiating both serum-withdrawal and TNF-induced apoptosis; THAP domain containing 9606.ENSP00000254260 RHPN2 686 Rhophilin-2; Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity; Belongs to the RHPN family 9606.ENSP00000254286 ACTR10 417 Actin related protein 10 homolog; Belongs to the actin family 9606.ENSP00000254301 LGALS3 250 Galectin-3; Galactose-specific lectin which binds IgE. May mediate with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (By similarity). In the nucleus: acts as a pre-mRNA splicing factor. Involved in acute inflammatory responses including neutrophil activation and adhesion, chemoattraction of monocytes macrophages, opsonization of apoptotic neutrophils, and activation of mast cells; Endogenous ligands 9606.ENSP00000254322 DNAJB1 340 DnaJ homolog subfamily B member 1; Interacts with HSP70 and can stimulate its ATPase activity. Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) 9606.ENSP00000254323 ZSWIM4 989 Zinc finger SWIM-type containing 4 9606.ENSP00000254325 HGNC:9982 979 MHC class II regulatory factor RFX1; Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RPL30 promoter; Belongs to the RFX family 9606.ENSP00000254336 C19orf57 637 Uncharacterized protein C19orf57; Chromosome 19 open reading frame 57 9606.ENSP00000254337 DCAF15 600 DDB1- and CUL4-associated factor 15; May be involved in ubiquitination and degradation through a DBB1-CUL4 E3 protein-ubiquitin ligase; DDB1 and CUL4 associated factors 9606.ENSP00000254436 TRIM21 475 E3 ubiquitin-protein ligase TRIM21; E3 ubiquitin-protein ligase whose activity is dependent on E2 enzymes, UBE2D1, UBE2D2, UBE2E1 and UBE2E2. Forms a ubiquitin ligase complex in cooperation with the E2 UBE2D2 that is used not only for the ubiquitination of USP4 and IKBKB but also for its self-ubiquitination. Component of cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes such as SCF(SKP2)-like complexes. A TRIM21-containing SCF(SKP2)- like complex is shown to mediate ubiquitination of CDKN1B ('Thr- 187' phosphorylated-form), thereby promoting its degr [...] 9606.ENSP00000254442 WDR7 1490 WD repeat-containing protein 7; Armadillo-like helical domain containing 9606.ENSP00000254480 SMARCC1 1105 SWI/SNF complex subunit SMARCC1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF [...] 9606.ENSP00000254488 SLC6A11 632 Sodium- and chloride-dependent GABA transporter 3; Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A11 subfamily 9606.ENSP00000254508 NUP210 1887 Nuclear pore membrane glycoprotein 210; Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity; Nucleoporins 9606.ENSP00000254521 HSD17B7 341 3-keto-steroid reductase; Responsible for the reduction of the keto group on the C-3 of sterols; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000254528 EMILIN2 1053 EMILIN-2; May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity; EMI domain containing 9606.ENSP00000254579 DNHD1 4753 Dynein heavy chain domain 1 9606.ENSP00000254605 RRP8 456 Ribosomal RNA-processing protein 8; Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys- 9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and pr [...] 9606.ENSP00000254616 TIMM10B 103 Mitochondrial import inner membrane translocase subunit Tim10 B; Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin- pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space 9606.ENSP00000254624 EFR3A 821 Protein EFR3 homolog A; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component. Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect 9606.ENSP00000254627 ENSG00000253117 477 Otoconin 90; It is unlikely that this protein has phospholipase A2 activity 9606.ENSP00000254630 PTCD3 689 Pentatricopeptide repeat domain-containing protein 3, mitochondrial; Mitochondrial RNA-binding protein that has a role in mitochondrial translation 9606.ENSP00000254654 ILKAP 392 Integrin-linked kinase-associated serine/threonine phosphatase 2C; Protein phosphatase that may play a role in regulation of cell cycle progression via dephosphorylation of its substrates whose appropriate phosphorylation states might be crucial for cell proliferation. Selectively associates with integrin linked kinase (ILK), to modulate cell adhesion and growth factor signaling. Inhibits the ILK-GSK3B signaling axis and may play an important role in inhibiting oncogenic transformation; Belongs to the PP2C family 9606.ENSP00000254657 PER2 1255 Period circadian protein homolog 2; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time- keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, card [...] 9606.ENSP00000254661 RAMP1 148 Receptor activity-modifying protein 1; Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL; Receptor activity modifying proteins 9606.ENSP00000254663 SCLY 453 Selenocysteine lyase; Catalyzes the decomposition of L-selenocysteine to L- alanine and elemental selenium; Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000254667 PTPRE 700 Receptor-type tyrosine-protein phosphatase epsilon; Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity); Protein tyrosine phosphatases, receptor type 9606.ENSP00000254691 CARD6 1037 Caspase recruitment domain-containing protein 6; May be involved in apoptosis; Caspase recruitment domain containing 9606.ENSP00000254695 RAP1GAP2 730 Rap1 GTPase-activating protein 2; GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state 9606.ENSP00000254719 RPA1 616 Replication protein A 70 kDa DNA-binding subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruit [...] 9606.ENSP00000254722 SERPINF1 418 Pigment epithelium-derived factor; Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity; Serpin peptidase inhibitors 9606.ENSP00000254730 EEFSEC 596 Selenocysteine-specific elongation factor; Translation factor necessary for the incorporation of selenocysteine into proteins. It probably replaces EF-Tu for the insertion of selenocysteine directed by the UGA codon. SelB binds GTP and GDP 9606.ENSP00000254759 COQ3 369 Ubiquinone biosynthesis O-methyltransferase, mitochondrial; O-methyltransferase that catalyzes the 2 O-methylation steps in the ubiquinone biosynthetic pathway; Belongs to the class I-like SAM-binding methyltransferase superfamily. UbiG/COQ3 family 9606.ENSP00000254765 POPDC3 291 Popeye domain-containing protein 3; May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding 9606.ENSP00000254770 LANCL2 450 LanC-like protein 2; Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes 9606.ENSP00000254799 GRSF1 480 G-rich sequence factor 1; Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G-rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences 9606.ENSP00000254801 IGJ 159 Immunoglobulin J chain; Serves to link two monomer units of either IgM or IgA. In the case of IgM, the J chain-joined dimer is a nucleating unit for the IgM pentamer, and in the case of IgA it induces larger polymers. It also help to bind these immunoglobulins to secretory component 9606.ENSP00000254803 UTP3 479 Something about silencing protein 10; Essential for gene silencing: has a role in the structure of silenced chromatin. Plays a role in the developing brain (By similarity); Belongs to the SAS10 family 9606.ENSP00000254810 H3F3B 136 H3 histone, family 3B (H3.3B); Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play [...] 9606.ENSP00000254816 TRIM47 638 Tripartite motif containing 47; Ring finger proteins 9606.ENSP00000254846 KDM6B 1682 Lysine-specific demethylase 6B; Histone demethylase that specifically demethylates 'Lys- 27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expressi [...] 9606.ENSP00000254854 GUCY2D 1103 Retinal guanylyl cyclase 1; Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction; Guanylate cyclase receptors 9606.ENSP00000254868 CLEC10A 316 C-type lectin domain family 10 member A; Probable role in regulating adaptive and innate immune responses. Binds in a calcium-dependent manner to terminal galactose and N-acetylgalactosamine units, linked to serine or threonine. These sugar moieties are known as Tn-Ag and are expressed in a variety of carcinoma cells; C-type lectin domain containing 9606.ENSP00000254878 HRSP12 137 2-iminobutanoate/2-iminopropanoate deaminase; Catalyzes the hydrolytic deamination of enamine/imine intermediates that form during the course of normal metabolism. May facilitate the release of ammonia from these potentially toxic reactive metabolites, reducing their impact on cellular components. It may act on enamine/imine intermediates formed by several types of pyridoxal-5'-phosphate-dependent dehydratases including L-threonine dehydratase 9606.ENSP00000254898 MATN2 956 Matrilin-2; Involved in matrix assembly; Matrilins 9606.ENSP00000254900 BRD8 1235 Bromodomain-containing protein 8; May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Isoform 2 stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other prote [...] 9606.ENSP00000254928 ERAL1 437 GTPase Era, mitochondrial; Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly 9606.ENSP00000254940 NIP7 180 60S ribosome subunit biogenesis protein NIP7 homolog; Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly; Belongs to the NIP7 family 9606.ENSP00000254942 TERF2 542 Telomeric repeat-binding factor 2; Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added b [...] 9606.ENSP00000254950 VPS4A 437 Vacuolar protein sorting-associated protein 4A; Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth fact [...] 9606.ENSP00000254958 JAG1 1218 Protein jagged-1; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro); CD molecules 9606.ENSP00000254963 HSPA12B 686 Heat shock protein family A member 12B; Belongs to the heat shock protein 70 family 9606.ENSP00000254976 SNAP25 206 Synaptosomal-associated protein 25; t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells; SNAREs 9606.ENSP00000254998 NXT1 140 NTF2-related export protein 1; Stimulator of protein export for NES-containing proteins. Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA. The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 9606.ENSP00000255006 RIN2 944 Ras and Rab interactor 2; Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP; Belongs to the RIN (Ras interaction/interference) family 9606.ENSP00000255008 SSTR4 388 Somatostatin receptor type 4; Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumor cells 9606.ENSP00000255030 CRP 224 C-reactive protein; Displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells; Short pentraxins 9606.ENSP00000255039 HAPLN2 340 Hyaluronan and proteoglycan link protein 2; Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan- associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity); V-set domain containing 9606.ENSP00000255040 APCS 223 Serum amyloid P-component; Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin; Belongs to the pentraxin family 9606.ENSP00000255078 IGHMBP2 993 DNA-binding protein SMUBP-2; 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver- type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch regi [...] 9606.ENSP00000255082 ACY3 319 N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming); Plays an important role in deacetylating mercapturic acids in kidney proximal tubules. Also acts on N-acetyl-aromatic amino acids (By similarity) 9606.ENSP00000255084 ALDH3B2 385 Aldehyde dehydrogenase family 3 member B2; Oxidizes medium and long chain aldehydes into non-toxic fatty acids; Belongs to the aldehyde dehydrogenase family 9606.ENSP00000255087 MTL5 508 Tesmin; May have a role in spermatogenesis; Belongs to the lin-54 family 9606.ENSP00000255108 DPH2 489 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) 9606.ENSP00000255120 NASP 788 Nuclear autoantigenic sperm protein; Required for DNA replication, normal cell cycle progression and cell proliferation. Forms a cytoplasmic complex with HSP90 and H1 linker histones and stimulates HSP90 ATPase activity. NASP and H1 histone are subsequently released from the complex and translocate to the nucleus where the histone is released for binding to DNA 9606.ENSP00000255129 ZNF334 680 Zinc finger protein 334; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000255136 PABPC1L 614 Polyadenylate-binding protein 1-like; poly(A) binding protein cytoplasmic 1 like; RNA binding motif containing 9606.ENSP00000255152 ZSWIM3 696 Zinc finger SWIM-type containing 3 9606.ENSP00000255189 DMGDH 866 Dimethylglycine dehydrogenase, mitochondrial; Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro 9606.ENSP00000255192 BHMT2 363 S-methylmethionine--homocysteine S-methyltransferase BHMT2; Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor 9606.ENSP00000255194 AP3B1 1094 AP-3 complex subunit beta-1; Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into [...] 9606.ENSP00000255198 ZBED3 234 Zinc finger BED domain-containing protein 3; Acts as a positive regulator in the activation of the canonical Wnt/beta-catenin signaling pathway by stabilizing cytoplasmic beta-catenin. Involved in transcription activation of Wnt target gene expression (By similarity); Zinc fingers BED-type 9606.ENSP00000255224 SYT4 425 Synaptotagmin-4; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (By similarity). Plays a role in dendrite formation by melanocytes; Belongs to the synaptotagmin family 9606.ENSP00000255226 SLC14A2 920 Urea transporter 2; Specialized low-affinity vasopressin-regulated urea transporter. Mediates rapid transepithelial urea transport across the inner medullary collecting duct and plays a major role in the urinary concentrating mechanism; Solute carriers 9606.ENSP00000255262 NMUR2 415 Neuromedin-U receptor 2; Receptor for the neuromedin-U and neuromedin-S neuropeptides; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000255266 PDE6A 860 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; This protein participates in processes of transmission and amplification of the visual signal; Belongs to the cyclic nucleotide phosphodiesterase family 9606.ENSP00000255304 USPL1 1092 SUMO-specific isopeptidase USPL1; SUMO-specific isopeptidase involved in protein desumoylation. Specifically binds SUMO proteins with a higher affinity for SUMO2 and SUMO3 which it cleaves more efficiently. Also able to process full-length SUMO proteins to their mature forms. Plays a key role in RNA polymerase-II- mediated snRNA transcription in the Cajal bodies. Is a component of complexes that can bind to U snRNA genes 9606.ENSP00000255305 XPO4 1151 Exportin-4; Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO4 then return to the nuclear compartment and mediate ano [...] 9606.ENSP00000255324 RNF17 1623 RING finger protein 17; Seems to be involved in regulation of transcriptional activity of MYC. In vitro, inhibits DNA-binding activity of Mad- MAX heterodimers. Can recruit Mad transcriptional repressors (MXD1, MXD3, MXD4 and MXI1) to the cytoplasm. May be involved in spermiogenesis (By similarity); Ring finger proteins 9606.ENSP00000255380 CHRM3 590 Muscarinic acetylcholine receptor M3; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover; Cholinergic receptors muscarinic 9606.ENSP00000255381 MYH4 1939 Myosin-4; Muscle contraction; Myosin heavy chains 9606.ENSP00000255389 PEMT 236 Phosphatidylethanolamine N-methyltransferase; Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC); Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family 9606.ENSP00000255390 SCO1 301 Protein SCO1 homolog, mitochondrial; Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX; Belongs to the SCO1/2 family 9606.ENSP00000255409 CHI3L1 383 Chitinase-3-like protein 1; Carbohydrate-binding lectin with a preference for chitin. Has no chitinase activity. May play a role in tissue remodeling and in the capacity of cells to respond to and cope with changes in their environment. Plays a role in T-helper cell type 2 (Th2) inflammatory response and IL-13-induced inflammation, regulating allergen sensitization, inflammatory cell apoptosis, dendritic cell accumulation and M2 macrophage differentiation. Facilitates invasion of pathogenic enteric bacteria into colonic mucosa and lymphoid organs. Mediates activation of AKT1 signaling [...] 9606.ENSP00000255416 MYBPH 477 Myosin-binding protein H; Binds to myosin; probably involved in interaction with thick myofilaments in the A-band; Fibronectin type III domain containing 9606.ENSP00000255448 DCLK1 729 Serine/threonine-protein kinase DCLK1; Probable kinase that may be involved in a calcium- signaling pathway controlling neuronal migration in the developing brain. May also participate in functions of the mature nervous system; Doublecortin superfamily 9606.ENSP00000255465 CCNA1 465 Cyclin-A1; May be involved in the control of the cell cycle at the G1/S (start) and G2/M (mitosis) transitions. May primarily function in the control of the germline meiotic cell cycle and additionally in the control of mitotic cell cycle in some somatic cells; Belongs to the cyclin family. Cyclin AB subfamily 9606.ENSP00000255476 RFXAP 272 Regulatory factor X-associated protein; Part of the RFX complex that binds to the X-box of MHC II promoters 9606.ENSP00000255499 RNF128 428 E3 ubiquitin-protein ligase RNF128; E3 ubiquitin-protein ligase that catalyzes 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains formation. Functions as an inhibitor of cytokine gene transcription. Inhibits IL2 and IL4 transcription, thereby playing an important role in the induction of the anergic phenotype, a long-term stable state of T-lymphocyte unresponsiveness to antigenic stimulation associated with the blockade of interleukin production. Ubiquitinates ARPC5 with 'Lys- 48' linkages and COR1A with 'Lys-63' linkages leading to their degradation, down-regulation of these cytoslele [...] 9606.ENSP00000255608 BTBD2 525 BTB/POZ domain-containing protein 2; BTB domain containing 2 9606.ENSP00000255613 SUV420H2 462 Histone-lysine N-methyltransferase KMT5C; Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5C is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity); Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransf [...] 9606.ENSP00000255631 HSPBP1 359 Hsp70-binding protein 1; Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR; Armadillo-like helical domain containing 9606.ENSP00000255641 CSNK1G2 415 Casein kinase I isoform gamma-2; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degra [...] 9606.ENSP00000255674 RTTN 2226 Rotatin; Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2; Armadillo-like helical domain containing 9606.ENSP00000255681 MACROD1 325 O-acetyl-ADP-ribose deacetylase MACROD1; Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism [...] 9606.ENSP00000255688 RARRES3 164 Retinoic acid receptor responder protein 3; Exhibits PLA1/2 activity, catalyzing the calcium- independent hydrolysis of acyl groups in various phosphotidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. N- and O-acylation activity is hardly detectable; HRAS like suppressor family 9606.ENSP00000255695 HRASLS2 162 HRAS-like suppressor 2; Exhibits PLA1/2 activity, catalyzing the calcium- independent hydrolysis of acyl groups in various phosphatidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, PLA1 activity is much higher than PLA2 activity. Catalyzes N-acylation of PE using both sn-1 and sn-2 palmitoyl groups of PC as acyl donor. Also catalyzes O-acylation converting lyso-PC into PC; HRAS like suppressor family 9606.ENSP00000255759 FOPNL 174 LisH domain-containing protein FOPNL; Involved in the biogenesis of cilia. Required for the recruitement of PLK1 to centrosomes and S phase progression 9606.ENSP00000255764 MED10 135 Mediator of RNA polymerase II transcription subunit 10; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000255784 CCDC134 229 Coiled-coil domain-containing protein 134; In extracellular secreted form, promotes proliferation and activation of CD8(+) T cells, suggesting a cytokine-like function. Enhances cytotoxic anti-tumor activity of CD8(+) T cells. May inhibit ERK and JNK signaling activity. May suppress cell migration and invasion activity, via its effects on ERK and JNK signaling; Belongs to the CCDC134 family 9606.ENSP00000255858 SEC14L4 406 SEC14-like protein 4; Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids; SEC14 family 9606.ENSP00000255882 PI4KA 2102 Phosphatidylinositol 4-kinase alpha; Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate; Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily 9606.ENSP00000255945 GIMAP4 329 GTPase IMAP family member 4; May play a role in regulating lymphocyte apoptosis (By similarity). Exhibits intrisinic GTPase activity. Shows a higher affinity for GDP over GTP (about 12-fold higher), and binding shows an absolute requirement for magnesium; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily 9606.ENSP00000255977 MKRN1 482 E3 ubiquitin-protein ligase makorin-1; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription; Ring finger proteins 9606.ENSP00000256001 ACTR3B 418 Actin-related protein 3B; Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors; Actin related proteins 9606.ENSP00000256010 NTS 170 Neurotensin/neuromedin N; Neurotensin may play an endocrine or paracrine role in the regulation of fat metabolism. It causes contraction of smooth muscle; Belongs to the neurotensin family 9606.ENSP00000256015 BTG1 171 Protein BTG1; Anti-proliferative protein; BTG/Tob family 9606.ENSP00000256078 KRAS 189 GTPase KRas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation. Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner; Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000256079 IPO8 1037 Importin-8; Seems to function in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter- like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the [...] 9606.ENSP00000256103 PMP2 132 Myelin P2 protein; May play a role in lipid transport protein in Schwann cells. May bind cholesterol; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000256104 FABP4 132 Fatty acid-binding protein, adipocyte; Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus (By similarity); Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000256151 CCDC59 241 Thyroid transcription factor 1-associated protein 26; Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities 9606.ENSP00000256178 LYVE1 322 Lymphatic vessel endothelial hyaluronic acid receptor 1; Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes 9606.ENSP00000256186 MICALCL 695 MICAL C-terminal-like protein; May cooperate with MAPK1/ERK2 via an intracellular signal transduction pathway in the morphogenetic development of round spermatids to spermatozoa. May act as Rab effector protein and play a role in vesicle trafficking; Belongs to the ebitein family 9606.ENSP00000256190 SBF2 1849 Myotubularin-related protein 13; Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form; DENN/MADD domain containing 9606.ENSP00000256194 MICAL2 1124 [F-actin]-monooxygenase MICAL2; Nuclear monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (By similarity). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promot [...] 9606.ENSP00000256196 RRAS2 204 Ras-related protein R-Ras2; It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting its effect through an effector shared with the Ras proteins but in an antagonistic fashion 9606.ENSP00000256246 TEX15 2789 Testis-expressed protein 15; Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair 9606.ENSP00000256255 SARAF 339 Store-operated calcium entry-associated regulatory factor; Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)- dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions 9606.ENSP00000256257 RNF122 155 RING finger protein 122; May induce necrosis and apoptosis. May play a role in cell viability; Ring finger proteins 9606.ENSP00000256261 DUSP26 211 Dual specificity protein phosphatase 26; Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK); Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000256319 C14orf1 140 Probable ergosterol biosynthetic protein 28; Chromosome 14 open reading frame 1; Belongs to the ERG28 family 9606.ENSP00000256339 UNC79 2458 Protein unc-79 homolog; Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability; Belongs to the unc-79 family 9606.ENSP00000256343 CATSPERB 1116 Cation channel sperm-associated protein subunit beta; Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization; Cation channels sperm associated 9606.ENSP00000256362 VRTN 702 Vertnin; Vertebrae development associated; Belongs to the vertnin family 9606.ENSP00000256366 SYNJ2BP 145 Synaptojanin-2-binding protein; Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction; PDZ domain containing 9606.ENSP00000256367 TTC9 222 Tetratricopeptide repeat domain containing; Belongs to the TTC9 family 9606.ENSP00000256383 EIF2S1 315 Eukaryotic translation initiation factor 2 subunit 1; Functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2- GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed b [...] 9606.ENSP00000256389 ADAM20 776 Disintegrin and metalloproteinase domain-containing protein 20; May be involved in sperm maturation and/or fertilization; ADAM metallopeptidase domain containing 9606.ENSP00000256398 ELP3 547 Elongator complex protein 3; Catalytic histone acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in acetylation of alpha-tubulin. May also have a methyltransferase activity. Involved in cell migration. Involved in neurogenesis. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a proc [...] 9606.ENSP00000256404 PEBP4 227 Phosphatidylethanolamine-binding protein 4; Seems to promote cellular resistance to TNF-induced apoptosis by inhibiting activation of the Raf-1/MEK/ERK pathway, JNK and phosphatidylethanolamine externalization; Belongs to the phosphatidylethanolamine-binding protein family 9606.ENSP00000256412 ADAMDEC1 470 ADAM DEC1; May play an important role in the control of the immune response and during pregnancy 9606.ENSP00000256429 MBD2 411 Methyl-CpG-binding domain protein 2; Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binds hemimethylated DNA as well. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Functions as a scaffold protein, targeting GATAD2A and GATAD2B to chromatin to promote repression. May enhance the activation of some unmethylated cAMP-responsive promoters; Methyl-CpG binding domain containing 9606.ENSP00000256433 IER3IP1 82 Immediate early response 3-interacting protein 1; May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus (By similarity) 9606.ENSP00000256441 MRPS36 103 Mitochondrial ribosomal protein S36 9606.ENSP00000256442 CCNB1 433 G2/mitotic-specific cyclin-B1; Essential for the control of the cell cycle at the G2/M (mitosis) transition; Belongs to the cyclin family. Cyclin AB subfamily 9606.ENSP00000256443 CDK7 346 Cyclin-dependent kinase 7; Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription. Cyclin- dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between 2 subsequent phases in the cell cycle. Required for both activation and complex formation of CDK1/cyclin-B during G2-M transition, and for activation of CDK2/cyclins during G1-S transition (but not complex formation). CDK7 is the catalytic subunit of the CDK-activating [...] 9606.ENSP00000256447 CD180 661 CD180 antigen; May cooperate with MD-1 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) in B-cells. Leads to NF-kappa-B activation. Also involved in the life/death decision of B-cells (By similarity); CD molecules 9606.ENSP00000256458 IRAK2 625 Interleukin-1 receptor-associated kinase-like 2; Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization 9606.ENSP00000256460 CAMK1 370 Calcium/calmodulin-dependent protein kinase type 1; Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in h [...] 9606.ENSP00000256474 VHL 213 Von Hippel-Lindau disease tumor suppressor; Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia- inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2; Belongs to the VHL family 9606.ENSP00000256495 BHLHE40 412 Class E basic helix-loop-helix protein 40; Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1|ARNTL2/B [...] 9606.ENSP00000256496 ARL8B 186 ADP-ribosylation factor-like protein 8B; May play a role in lysosome motility. May play a role in chromosome segregation; ARF GTPase family 9606.ENSP00000256497 EDEM1 657 ER degradation-enhancing alpha-mannosidase-like protein 1; Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2; Belongs to the glycosyl hydrolase 47 family 9606.ENSP00000256509 CHL1 1224 Neural cell adhesion molecule L1-like protein; Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration [...] 9606.ENSP00000256538 DPH6 267 Diphthine--ammonia ligase; Amidase that catalyzes the last step of diphthamide biosynthesis using ammonium and ATP. Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity) 9606.ENSP00000256544 KATNBL1 304 KATNB1-like protein 1; Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro 9606.ENSP00000256545 EMC7 242 ER membrane protein complex subunit 7 9606.ENSP00000256578 AMPD2 879 AMP deaminase 2; AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family 9606.ENSP00000256592 TSHB 138 Thyrotropin subunit beta; Indispensable for the control of thyroid structure and metabolism; Endogenous ligands 9606.ENSP00000256593 GSTM5 218 Glutathione S-transferase Mu 5; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles; Soluble glutathione S-transferases 9606.ENSP00000256594 GSTM3 225 Glutathione S-transferase Mu 3; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the testis and brain blood barriers; Belongs to the GST superfamily. Mu family 9606.ENSP00000256637 SORT1 831 Sortilin; Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differ [...] 9606.ENSP00000256644 LAMTOR5 173 Ragulator complex protein LAMTOR5; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. When complexed to BIRC5, interferes with apoptosome assemb [...] 9606.ENSP00000256646 NOTCH2 2471 Neurogenic locus notch homolog protein 2; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL- [...] 9606.ENSP00000256649 TRIM45 580 Tripartite motif-containing protein 45; May act as a transcriptional repressor in mitogen- activated protein kinase signaling pathway; Ring finger proteins 9606.ENSP00000256682 ARF3 181 ADP-ribosylation factor 3; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus; Belongs to the small GTPase superfamily. Arf family 9606.ENSP00000256689 SLC38A2 506 Sodium-coupled neutral amino acid transporter 2; Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of neutral amino acids and sodium ions with a stoichiometry of 1:1. May function in the transport of amino acids at the blood- brain barrier and in the supply of maternal nutrients to the fetus through the placenta 9606.ENSP00000256707 KIDINS220 1771 Kinase D-interacting substrate of 220 kDa; Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)- induced recruitment of RAPGEF2 to late endosomes and neur [...] 9606.ENSP00000256722 CMPK2 449 UMP-CMP kinase 2, mitochondrial; May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs. Also displays broad nucleoside diphosphate kinase activity 9606.ENSP00000256737 ANO3 981 Anoctamin-3; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity; Anoctamins 9606.ENSP00000256759 FST 344 Follistatin; Binds directly to activin and functions as an activin antagonist. Specific inhibitor of the biosynthesis and secretion of pituitary follicle stimulating hormone (FSH) 9606.ENSP00000256785 CFHR5 569 Complement factor H-related protein 5; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH 9606.ENSP00000256797 ERN2 974 Serine/threonine-protein kinase/endoribonuclease IRE2; Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000256854 NARS 548 Asparagine--tRNA ligase, cytoplasmic; Aminoacyl tRNA synthetases, Class II 9606.ENSP00000256857 GRP 148 Gastrin-releasing peptide; Stimulates the release of gastrin and other gastrointestinal hormones (By similarity). Contributes to the perception of prurient stimuli and to the transmission of itch signals in the spinal cord that promote scratching behavior. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory. Contributes to the regulation of food intake (By similarity); Endogenous ligands 9606.ENSP00000256897 CCNH 323 Cyclin-H; Regulates CDK7, the catalytic subunit of the CDK- activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout [...] 9606.ENSP00000256906 HRH4 390 Histamine H4 receptor; The H4 subclass of histamine receptors could mediate the histamine signals in peripheral tissues. Displays a significant level of constitutive activity (spontaneous activity in the absence of agonist); Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000256925 CABLES1 633 CDK5 and ABL1 enzyme substrate 1; Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity) 9606.ENSP00000256935 DOCK2 1830 Dedicator of cytokinesis protein 2; Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. May also participate in IL2 transcriptional activation via the activation of RAC2; Belongs to the DOCK family 9606.ENSP00000256951 EMP1 157 Epithelial membrane protein 1 9606.ENSP00000256953 RERG 199 Ras-related and estrogen-regulated growth inhibitor; Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential; RAS type GTPase family 9606.ENSP00000256958 SLCO1B1 691 Solute carrier organic anion transporter family member 1B1; Mediates the Na(+)-independent uptake of organic anions such as pravastatin, taurocholate, methotrexate, dehydroepiandrosterone sulfate, 17-beta-glucuronosyl estradiol, estrone sulfate, prostaglandin E2, thromboxane B2, leukotriene C3, leukotriene E4, thyroxine and triiodothyronine. Involved in the clearance of bile acids and organic anions from the liver; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000256969 SPX 116 Spexin; Plays a role as a central modulator of cardiovascular and renal function and nociception. Plays also a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity) 9606.ENSP00000256996 DDB2 427 DNA damage-binding protein 2; Required for DNA repair. Binds to DDB1 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as the substrate recognition module for the DCX (DDB1- CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 [...] 9606.ENSP00000256997 ACP2 423 Acid phosphatase 2, lysosomal; Belongs to the histidine acid phosphatase family 9606.ENSP00000256999 FOLH1 750 Glutamate carboxypeptidase 2; Has both folate hydrolase and N-acetylated-alpha-linked- acidic dipeptidase (NAALADase) activity. Has a preference for tri- alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N- aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression 9606.ENSP00000257013 FAM127A 113 Retrotransposon Gag-like protein 8B; Family with sequence similarity 127, member A; Belongs to the FAM127 family 9606.ENSP00000257017 RAB33A 237 Ras-related protein Rab-33A; RAB33A, member RAS oncogene family 9606.ENSP00000257068 MTNR1B 362 Melatonin receptor type 1B; High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000257118 PHC2 858 Polyhomeotic-like protein 2; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility; Sterile alpha motif domain containing 9606.ENSP00000257177 ZCCHC11 1645 Terminal uridylyltransferase 4; Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay. Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7), miR107, miR-143 and miR-200c. Uridylated miRNAs are not processed by Dicer and undergo degradation. Degradation of pre-let-7 contributes to the mainten [...] 9606.ENSP00000257181 PRPF38A 312 Pre-mRNA-splicing factor 38A; May be required for pre-mRNA splicing; Belongs to the PRP38 family 9606.ENSP00000257189 DSG3 999 Desmoglein-3; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion; Desmosomal cadherins 9606.ENSP00000257192 DSG1 1049 Desmoglein-1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion; Desmosomal cadherins 9606.ENSP00000257198 DSC1 894 Desmocollin-1; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues; Desmosomal cadherins 9606.ENSP00000257215 DAGLA 1042 Sn1-specific diacylglycerol lipase alpha; Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses; Lipases 9606.ENSP00000257245 TIMM10 90 Mitochondrial import inner membrane translocase subunit Tim10; Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space; Belongs to the small Tim family 9606.ENSP00000257248 GIF 417 Gastric intrinsic factor; Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis 9606.ENSP00000257264 TCN1 433 Transcobalamin-1; Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach; Belongs to the eukaryotic cobalamin transport proteins family 9606.ENSP00000257287 CEP135 1140 Centrosomal protein of 135 kDa; Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole; Belongs to the CEP135/TSGA10 family 9606.ENSP00000257290 PDGFRA 1089 Platelet-derived growth factor receptor alpha; Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointes [...] 9606.ENSP00000257312 DZIP1 867 Zinc finger protein DZIP1; May participate in spermatogenesis via its interaction with DAZ. Has a role in primary cilium formation; Belongs to the DZIP C2H2-type zinc-finger protein family 9606.ENSP00000257336 BIVM 503 Basic, immunoglobulin-like variable motif containing 9606.ENSP00000257347 CARS2 564 Probable cysteine--tRNA ligase, mitochondrial; cysteinyl-tRNA synthetase 2, mitochondrial; Belongs to the class-I aminoacyl-tRNA synthetase family 9606.ENSP00000257359 ADAMTS8 889 A disintegrin and metalloproteinase with thrombospondin motifs 8; Has anti-angiogenic properties; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000257408 KLB 1044 Beta-klotho; Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity) 9606.ENSP00000257414 SEMA6A 1047 Semaphorin-6A; Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By similarity); Belongs to the sema [...] 9606.ENSP00000257430 APC 2843 Adenomatous polyposis coli protein; Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localizat [...] 9606.ENSP00000257515 FAM189A2 450 Protein FAM189A2; Family with sequence similarity 189 member A2 9606.ENSP00000257527 ADAM19 918 Disintegrin and metalloproteinase domain-containing protein 19; Participates in the proteolytic processing of beta-type neuregulin isoforms which are involved in neurogenesis and synaptogenesis, suggesting a regulatory role in glial cell. Also cleaves alpha-2 macroglobulin. May be involved in osteoblast differentiation and/or osteoblast activity in bone (By similarity); ADAM metallopeptidase domain containing 9606.ENSP00000257548 USP30 517 Ubiquitin carboxyl-terminal hydrolase 30; Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkin's ability to drive mitophagy. Preferentially cleaves 'Lys-6'- and 'Lys-11'- linked polyubiquitin chains, 2 types of linkage that participate to mitophagic signaling. Does not cleave efficiently polyubiquitin phosphorylated at 'Ser-65'. Acts as negative regulator of mitochondri [...] 9606.ENSP00000257549 SDS 328 L-serine dehydratase/L-threonine deaminase; Serine dehydratase 9606.ENSP00000257552 MSI1 362 RNA-binding protein Musashi homolog 1; RNA binding protein that regulates the expression of target mRNAs at the translation level. Regulates expression of the NOTCH1 antagonist NUMB. Binds RNA containing the sequence 5'- GUUAGUUAGUUAGUU-3' and other sequences containing the pattern 5'- [GA]U(1-3)AGU-3'. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity) 9606.ENSP00000257555 HNF1A 631 Hepatocyte nuclear factor 1-alpha; Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'- GTTAATNATTAAC-3'; Belongs to the HNF1 homeobox family 9606.ENSP00000257566 TBX3 743 T-box transcription factor TBX3; Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence; T-boxes 9606.ENSP00000257570 OASL 514 2'-5'-oligoadenylate synthase-like protein; Does not have 2'-5'-OAS activity, but can bind double- stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L; Belongs to the 2-5A synthase family 9606.ENSP00000257572 HRK 91 Activator of apoptosis harakiri; Promotes apoptosis; BCL2 homology region 3 only 9606.ENSP00000257575 RNFT2 444 Ring finger protein, transmembrane 2 9606.ENSP00000257600 DTX1 620 E3 ubiquitin-protein ligase DTX1; Functions as a ubiquitin ligase protein in vivo, mediating ubiquitination and promoting degradation of MEKK1, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (By similarity). Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Mainly acts as a positive regulator of Notch, but it also acts as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibi [...] 9606.ENSP00000257604 TRAFD1 582 TRAF-type zinc finger domain-containing protein 1; Negative feedback regulator that controls excessive innate immune responses. Regulates both Toll-like receptor 4 (TLR4) and DDX58/RIG1-like helicases (RLH) pathways. May inhibit the LTR pathway by direct interaction with TRAF6 and attenuation of NF-kappa-B activation. May negatively regulate the RLH pathway downstream from MAVS and upstream of NF-kappa-B and IRF3 (By similarity) 9606.ENSP00000257626 GSAP 854 Gamma-secretase-activating protein; Regulator of gamma-secretase activity, which specifically activates the production of amyloid-beta protein (amyloid-beta protein 40 and amyloid-beta protein 42), without affecting the cleavage of other gamma-secretase targets such has Notch. The gamma-secretase complex is an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Specifically promotes the gamma-cleavage of APP CTF-alpha (also named APP-CTF) by the gamma-secretase complex to generate [...] 9606.ENSP00000257627 OCM2 109 Putative oncomodulin-2; EF-hand domain containing; Belongs to the parvalbumin family 9606.ENSP00000257632 UPK3B 320 Uroplakin-3b; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity); Belongs to the uroplakin-3 family 9606.ENSP00000257663 TMEM60 133 Transmembrane protein 60 9606.ENSP00000257696 HILPDA 63 Hypoxia-inducible lipid droplet-associated protein; Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation 9606.ENSP00000257700 RINT1 792 RAD50-interacting protein 1; Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control. Essential for telomere length control; Belongs to the RINT1 family 9606.ENSP00000257749 BACH2 841 Transcription regulator protein BACH2; Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1. Positively regulates the nuclear import of actin (By similarity); BTB domain containing 9606.ENSP00000257770 NT5E 574 5'-nucleotidase; Hydrolyzes extracellular nucleotides into membrane permeable nucleosides. Exhibits AMP-, NAD-, and NMN-nucleosidase activities; Belongs to the 5'-nucleotidase family 9606.ENSP00000257776 MRAP2 205 Melanocortin-2 receptor accessory protein 2; Modulator of melanocortin receptor 4 (MC4R), a receptor involved in energy homeostasis. Plays a central role in the control of energy homeostasis and body weight regulation by increasing ligand-sensitivity of MC4R and MC4R-mediated generation of cAMP (By similarity). May also act as a negative regulator of MC2R: competes with MRAP for binding to MC2R and impairs the binding of corticotropin (ACTH) to MC2R. May also regulate activity of other melanocortin receptors (MC1R, MC3R and MC5R); however, additional evidences are required in vivo 9606.ENSP00000257787 AKIRIN2 203 Akirin-2; Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity); Belongs to the akirin family 9606.ENSP00000257789 ORC3 712 Origin recognition complex subunit 3; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre- replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 9606.ENSP00000257818 LMO2 227 Rhombotin-2; Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state; LIM domain containing 9606.ENSP00000257829 NAT10 1025 RNA cytidine acetyltransferase; RNA cytidine acetyltransferase with specificity toward both 18S rRNA and tRNAs. Catalyzes the formation of N(4)-acetylcytidine (ac4C) at positions 1337 and 1842 in 18S rRNA (By similarity). Required for early nucleolar cleavages of precursor rRNA at sites A0, A1 and A2 during 18S rRNA synthesis. Catalyzes the formation of ac4C in serine and leucine tRNAs (By similarity). Requires the tRNA-binding adapter protein THUMBD1 for full tRNA acetyltransferase activity but not for 18S rRNA acetylation. Can acetylate both histones and microtubules. Histone acetyla [...] 9606.ENSP00000257836 PRRG4 226 Transmembrane gamma-carboxyglutamic acid protein 4; Proline rich and Gla domain containing 9606.ENSP00000257860 PRPH 470 Peripherin; Class-III neuronal intermediate filament protein 9606.ENSP00000257861 AVIL 819 Advillin; Ca(2+)-regulated actin-binding protein. May have a unique function in the morphogenesis of neuronal cells which form ganglia. Required for SREC1-mediated regulation of neurite-like outgrowth. Plays a role in regenerative sensory axon outgrowth and remodeling processes after peripheral injury in neonates. Involved in the formation of long fine actin-containing filopodia-like structures in fibroblast. Plays a role in ciliogenesis; Gelsolin/villins 9606.ENSP00000257863 AMHR2 573 Anti-Muellerian hormone type-2 receptor; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for anti-Muellerian hormone 9606.ENSP00000257867 LACRT 138 Extracellular glycoprotein lacritin; Modulates secretion by lacrimal acinar cells 9606.ENSP00000257868 GDF11 407 Growth/differentiation factor 11; Secreted signal that acts globally to specify positional identity along the anterior/posterior axis during development. May play critical roles in patterning both mesodermal and neural tissues and in establishing the skeletal pattern (By similarity). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3; Belongs to the TGF-beta family 9606.ENSP00000257894 FAM186B 893 Protein FAM186B; Family with sequence similarity 186 member B 9606.ENSP00000257895 RDH5 318 11-cis retinol dehydrogenase; Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000257901 KRT85 507 Keratin, type II cuticular Hb5; Keratins, type II 9606.ENSP00000257904 CDK4 303 Cyclin-dependent kinase 4; Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. [...] 9606.ENSP00000257905 PPP1R1A 171 Protein phosphatase 1 regulatory subunit 1A; Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases 9606.ENSP00000257909 TROAP 778 Tastin; Could be involved with bystin and trophinin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation 9606.ENSP00000257910 TSPAN31 210 Tetraspanin-31; Tetraspanin 31; Tetraspanins 9606.ENSP00000257915 TFCP2 502 Alpha-globin transcription factor CP2; Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter; Belongs to the grh/CP2 fam [...] 9606.ENSP00000257934 ESPL1 2120 Separin; Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is inactivated by different mechanisms 9606.ENSP00000257940 ZC3H10 434 Zinc finger CCCH domain-containing protein 10; Specific regulator of miRNA biogenesis. Binds, via the C3H1-type zinc finger domains, to the binding motif 5'-GCAGCGC-3' on microRNA pri-MIR143 and negatively regulates the processing to mature microRNA; Zinc fingers CCCH-type 9606.ENSP00000257951 KRT84 600 Keratin, type II cuticular Hb4; Keratins, type II 9606.ENSP00000257974 KRT82 513 Keratin, type II cuticular Hb2; Keratins, type II 9606.ENSP00000257979 MIP 263 Lens fiber major intrinsic protein; Water channel. Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity). Plays a role in cell-to-cell adhesion and facilitates gap junction coupling; Belongs to the MIP/aquaporin (TC 1.A.8) family 9606.ENSP00000257981 KCNH3 1083 Potassium voltage-gated channel subfamily H member 3; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.2/KCNH3 sub-subfamily 9606.ENSP00000258034 TAAR5 337 Trace amine-associated receptor 5; Olfactory receptor specific for trimethylamine, a trace amine. Also activated at lower level by dimethylethylamine. Trimethylamine is a bacterial metabolite found in some animal odors, and to humans it is a repulsive odor associated with bad breath and spoiled food. This receptor is probably mediated by the G(s)-class of G-proteins which activate adenylate cyclase 9606.ENSP00000258042 NMBR 390 Neuromedin-B receptor; Receptor for neuromedin-B; Bombesin receptors 9606.ENSP00000258052 SMPD2 423 Sphingomyelin phosphodiesterase 2; Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2- lyso-sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso- sn-glycero-3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF; Belongs to the neutral sphingomyelinase family 9606.ENSP00000258080 HTRA2 458 Serine protease HTRA2, mitochondrial; Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive; Belongs to the peptidase S1C family 9606.ENSP00000258083 PRADC1 188 Protease-associated domain-containing protein 1; Protease associated domain containing 1 9606.ENSP00000258091 CCT7 543 T-complex protein 1 subunit eta; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin (By similarity); Chaperonins 9606.ENSP00000258098 RAB11FIP5 653 Rab11 family-interacting protein 5; Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis; C2 domain containing 9606.ENSP00000258105 MRPL53 112 Mitochondrial ribosomal protein L53 9606.ENSP00000258106 EMX1 290 Homeobox protein EMX1; Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system 9606.ENSP00000258111 KCNMB4 210 Calcium-activated potassium channel subunit beta-4; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Decreases the gating kinetics and calcium sensitivity of the KCNMA1 channel, but with fast deactivation kinetics. May decrease KCNMA1 channel openings at low calcium concentrations but increases channel openings at high calcium concentrations. Makes KCNMA1 channel resistant to 100 nM charybdotoxin (CTX) toxin concentrations; Belongs to the KCNMB [...] 9606.ENSP00000258145 GNS 552 N-acetylglucosamine-6-sulfatase; Glucosamine-6-sulfatase; Belongs to the sulfatase family 9606.ENSP00000258149 MDM2 497 E3 ubiquitin-protein ligase Mdm2; E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 [...] 9606.ENSP00000258168 BCO1 547 Beta,beta-carotene 15,15'-dioxygenase; Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism; Belongs to the carotenoid oxygenase family 9606.ENSP00000258169 MPHOSPH6 160 M-phase phosphoprotein 6; RNA-binding protein that associates with the RNA exosome complex. Involved in the 3'-processing of the 7S pre-RNA to the mature 5.8S rRNA and may play a role in recruiting the RNA exosome complex to pre-rRNA; this function may include C1D 9606.ENSP00000258173 TMEM231 316 Transmembrane protein 231; Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity) 9606.ENSP00000258198 DYNC1LI2 492 Cytoplasmic dynein 1 light intermediate chain 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes; Belongs to the dynein light intermediate chain family 9606.ENSP00000258200 FBXL8 374 F-box/LRR-repeat protein 8; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and leucine rich repeat proteins 9606.ENSP00000258201 FHOD1 1164 FH1/FH2 domain-containing protein 1; Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing; Armadillo-like helical domain containing 9606.ENSP00000258214 CCDC102A 550 Coiled-coil domain containing 102A 9606.ENSP00000258229 PCNXL2 2137 Pecanex-like protein 2; May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H); Belongs to the pecanex family 9606.ENSP00000258243 URB2 1524 URB2 ribosome biogenesis 2 homolog 9606.ENSP00000258281 TAF5L 589 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex; WD repeat domain containing 9606.ENSP00000258301 STX6 255 Syntaxin-6; Involved in intracellular vesicle trafficking; Syntaxins 9606.ENSP00000258302 RGS8 198 Regulator of G-protein signaling 8; Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Modulates the activity of potassium channels that are activated in response to DRD2 and CHRM2 signaling (By similarity) 9606.ENSP00000258317 NPL 320 N-acetylneuraminate lyase; Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N- glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity); Belongs to the DapA family. NanA subfamily 9606.ENSP00000258341 LAMC1 1609 Laminin subunit gamma-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000258381 SP110 713 Sp110 nuclear body protein; Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE); Bromodomain containing 9606.ENSP00000258383 MRPL44 332 39S ribosomal protein L44, mitochondrial; Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome; Mitochondrial ribosomal proteins 9606.ENSP00000258385 CHRND 517 Acetylcholine receptor subunit delta; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily 9606.ENSP00000258390 DOCK10 2186 Dedicator of cytokinesis protein 10; Guanine nucleotide-exchange factor (GEF) that activates CDC42 and RAC1 by exchanging bound GDP for free GTP. Essential for dendritic spine morphogenesis in Purkinje cells and in hippocampal neurons, via a CDC42-mediated pathway. Sustains B-cell lymphopoiesis in secondary lymphoid tissues and regulates FCER2/CD23 expression; Belongs to the DOCK family 9606.ENSP00000258399 USP37 979 Ubiquitin carboxyl-terminal hydrolase 37; Deubiquitinase that antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'- linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Also mediates deubiquitination of 'Lys-48'-linked polyubiquitin chains in vitro. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 a [...] 9606.ENSP00000258400 HTR2B 481 5-hydroxytryptamine receptor 2B; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various ergot alkaloid derivatives and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling activates a phosphatidylinositol- calcium second messenger system that modulates the activity [...] 9606.ENSP00000258403 SLC19A3 496 Thiamine transporter 2; Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity; Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family 9606.ENSP00000258411 WNT10A 417 Protein Wnt-10a; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters; Belongs to the Wnt family 9606.ENSP00000258415 CYP27A1 531 Sterol 26-hydroxylase, mitochondrial; Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity; Belongs to the cytochrome P450 family 9606.ENSP00000258416 EIF4E2 245 Eukaryotic translation initiation factor 4E type 2; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation. Acts as a repressor of translation initiation. In contrast to EIF4E, it is unable to bind eIF4G (EIF4G1, EIF4G2 or EIF4G3), suggesting that it acts by competing with EIF4E and block assembly of eIF4F at the cap (By similarity) 9606.ENSP00000258418 CAB39 341 Calcium-binding protein 39; Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 9606.ENSP00000258424 COX5B 129 Cytochrome c oxidase subunit 5B, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000258428 REV1 1251 DNA repair protein REV1; Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3'-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents 9606.ENSP00000258436 MFSD9 474 Major facilitator superfamily domain containing 9 9606.ENSP00000258439 TMEM127 238 Transmembrane protein 127; Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor 9606.ENSP00000258443 EDAR 448 Tumor necrosis factor receptor superfamily member EDAR; Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death; Tumor necrosis factor receptor superfamily 9606.ENSP00000258455 MRPS9 396 Mitochondrial ribosomal protein S9 9606.ENSP00000258456 GPR45 372 Probable G-protein coupled receptor 45; Orphan receptor. May play a role in brain function; G protein-coupled receptors, Class A orphans 9606.ENSP00000258457 C2orf49 232 Ashwin; Chromosome 2 open reading frame 49; Belongs to the ashwin family 9606.ENSP00000258484 EPC2 807 Enhancer of polycomb homolog 2; May play a role in transcription or DNA repair 9606.ENSP00000258494 ALDH1L2 923 Mitochondrial 10-formyltetrahydrofolate dehydrogenase; Aldehyde dehydrogenase 1 family member L2; In the N-terminal section; belongs to the GART family 9606.ENSP00000258499 USP44 712 Ubiquitin carboxyl-terminal hydrolase 44; Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts [...] 9606.ENSP00000258526 PLXNC1 1568 Plexin-C1; Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity); Belongs to the plexin family 9606.ENSP00000258534 DRAM1 238 DNA damage-regulated autophagy modulator protein 1; Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73- mediated autophagy 9606.ENSP00000258538 SLC41A2 573 Solute carrier family 41 member 2; Acts as a plasma-membrane magnesium transporter; Solute carriers 9606.ENSP00000258613 THSD1 852 Thrombospondin type-1 domain-containing protein 1; Thrombospondin type 1 domain containing 1 9606.ENSP00000258648 MED4 270 Mediator of RNA polymerase II transcription subunit 4; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000258654 COG3 828 Conserved oligomeric Golgi complex subunit 3; Involved in ER-Golgi transport; Belongs to the COG3 family 9606.ENSP00000258662 NUDT15 164 Nucleotide triphosphate diphosphatase NUDT15; May catalyze the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidized forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP. Could also catalyze the hydrolysis of some nucleoside diphosphate derivatives. Hydrolyzes oxidized nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low. Therefore, the potential in vivo sanitizing role of this enzyme, that would consist in removing oxidatively damaged forms of nucleosides t [...] 9606.ENSP00000258704 SPDYE1 336 Speedy protein E1; speedy/RINGO cell cycle regulator family member E1 9606.ENSP00000258729 IGF2BP3 579 Insulin-like growth factor 2 mRNA-binding protein 3; RNA-binding factor that may recruit target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Binds to the 3'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to beta- actin/ACTB and MYC transcripts. Bin [...] 9606.ENSP00000258739 KDELR2 212 ER lumen protein-retaining receptor 2; Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor recognizes K-D-E-L 9606.ENSP00000258742 NUPL2 423 Nucleoporin-like protein 2; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope 9606.ENSP00000258770 TBRG4 631 Protein TBRG4; May play a role in cell cycle progression; FASTK mitochondrial RNA binding family 9606.ENSP00000258772 DDX56 547 Probable ATP-dependent RNA helicase DDX56; May play a role in later stages of the processing of the pre-ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity; Belongs to the DEAD box helicase family. DDX56/DBP9 subfamily 9606.ENSP00000258774 HUS1 280 Checkpoint protein HUS1; Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity [...] 9606.ENSP00000258776 C7orf69 122 Uncharacterized protein C7orf69; Chromosome 7 open reading frame 69 9606.ENSP00000258787 MYO1G 1018 Unconventional myosin-Ig; Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T- cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B- cells, where it regulates different membrane/cytoskeleton- dependent proce [...] 9606.ENSP00000258796 TTYH3 523 Protein tweety homolog 3; Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction; Belongs to the tweety family 9606.ENSP00000258821 TTC5 440 Tetratricopeptide repeat protein 5; Adapter protein involved in p53/TP53 response that acts by regulating and mediating the assembly of multi-protein complexes. Required to facilitate the interaction between JMY and p300/EP300 and increase p53/TP53-dependent transcription and apoptosis. Prevents p53/TP53 degradation by MDM2 (By similarity); Tetratricopeptide repeat domain containing 9606.ENSP00000258829 NKX2-8 239 Homeobox protein Nkx-2.8; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000258873 ACSBG1 724 Long-chain-fatty-acid--CoA ligase ACSBG1; Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Can activate diverse saturated, monosaturated and polyunsaturated fatty acids; Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily 9606.ENSP00000258874 MTHFS 203 5-formyltetrahydrofolate cyclo-ligase; Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10- methenyltetrahydrofolate 9606.ENSP00000258884 ABHD17C 329 Protein ABHD17C; Abhydrolase domain containing 17C 9606.ENSP00000258886 IREB2 963 Iron-responsive element-binding protein 2; RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'- UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA; Belongs to the aconitase/IPM isomerase family 9606.ENSP00000258888 ALPK3 1907 Alpha-protein kinase 3; Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation. Plays a role in cardiomyocyte differentiation (By similarity); I-set domain containing 9606.ENSP00000258930 CIB2 187 Calcium and integrin-binding family member 2; Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release. May be involved in the mechanotransduction process (By similarity); Deafness associated genes 9606.ENSP00000258955 RSAD1 442 Radical S-adenosyl methionine domain-containing protein 1, mitochondrial; May be involved in porphyrin cofactor biosynthesis; Belongs to the anaerobic coproporphyrinogen-III oxidase family 9606.ENSP00000258962 SRSF1 248 Serine/arginine-rich splicing factor 1; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5'-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5'-RGAAGAAC-3' (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5'- CGAGGCG-3' motif in vitro. Three copies of the octame [...] 9606.ENSP00000258975 TACO1 297 Translational activator of cytochrome c oxidase 1; Acts as a translational activator of mitochondrially- encoded cytochrome c oxidase 1; Belongs to the TACO1 family 9606.ENSP00000258991 TEX2 1134 Testis-expressed protein 2; Testis expressed 2 9606.ENSP00000259006 LIMD2 127 LIM domain-containing protein 2; Acts as an activator of the protein-kinase ILK, thereby regulating cell motility; LIM domain containing 9606.ENSP00000259008 BRIP1 1249 Fanconi anemia group J protein; DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 9606.ENSP00000259021 KAT7 611 Histone acetyltransferase KAT7; Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Involved in H3K14 (histone H3 lysine 14) acetylation and cell proliferation (By similarity). Through chromatin acetylation it may regulate DNA replication and act as a coactivator of TP53-dependent transcription. Acts as a coactivator of the licensing factor CDT1. Specifically represses AR-mediated transcription; Belongs to the MYST (SAS/MOZ) family 9606.ENSP00000259030 RTP4 246 Receptor-transporting protein 4; Probable chaperone protein which facilitates trafficking and functional cell surface expression of some G-protein coupled receptors (GPCRs). Promotes functional expression of the bitter taste receptor TAS2R16. Also promotes functional expression of the opioid receptor heterodimer OPRD1-OPRM1 (By similarity); Receptor transporter proteins 9606.ENSP00000259037 NDUFB5 189 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000259050 MARCH7 704 E3 ubiquitin-protein ligase MARCH7; E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates; Membrane associated ring-CH-type fingers 9606.ENSP00000259053 CD302 232 CD302 antigen; Potential multifunctional C-type lectin receptor that may play roles in endocytosis and phagocytosis as well as in cell adhesion and migration 9606.ENSP00000259056 GALNT5 940 Polypeptide N-acetylgalactosaminyltransferase 5; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity); Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily 9606.ENSP00000259089 BLK 505 Tyrosine-protein kinase Blk; Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis d [...] 9606.ENSP00000259154 KCTD3 815 BTB/POZ domain-containing protein KCTD3; Accessory subunit of potassium/sodium hyperpolarization- activated cyclic nucleotide-gated channel 3 (HCN3) upregulating its cell-surface expression and current density without affecting its voltage dependence and kinetics; Belongs to the KCTD3 family 9606.ENSP00000259199 CBWD2 395 COBW domain containing 2; Belongs to the SIMIBI class G3E GTPase family. CobW subfamily 9606.ENSP00000259205 IL36G 169 Interleukin-36 gamma; Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinoc [...] 9606.ENSP00000259206 IL1RN 180 Interleukin-1 receptor antagonist protein; Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure; Endogenous ligands 9606.ENSP00000259211 IL36A 158 Interleukin-36 alpha; Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cel [...] 9606.ENSP00000259213 IL36B 164 Interleukin-36 beta; Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Stimulates production of interleukin-6 and interleukin-8 in synovial fibrobasts, articular chondrocytes and mature adipocytes. Induces expression of a number of antimicrobial [...] 9606.ENSP00000259216 CFC1 223 Cryptic protein; NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation; Belongs to the EGF-CFC (Cripto-1/FRL1/Cryptic) family 9606.ENSP00000259229 CCDC115 180 Coiled-coil domain-containing protein 115; Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation. May be involved in Golgi homeostasis 9606.ENSP00000259239 IMP4 291 U3 small nucleolar ribonucleoprotein protein IMP4; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing; MPP10 subcomplex 9606.ENSP00000259241 HS6ST1 411 Heparan-sulfate 6-O-sulfotransferase 1; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Critical for normal neuronal development where it may play a role in neuron branching. May also play a role in limb development. May prefer iduronic acid; Sulfotransferases, membrane bound 9606.ENSP00000259253 UGGT1 1555 UDP-glucose:glycoprotein glucosyltransferase 1; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation; UDP-glucose glycoprotein glucosyltransferases 9606.ENSP00000259254 GYPC 128 Glycophorin-C; This protein is a minor sialoglycoprotein in human erythrocyte membranes. The blood group Gerbich antigens and receptors for Plasmodium falciparum merozoites are most likely located within the extracellular domain. Glycophorin-C plays an important role in regulating the stability of red cells 9606.ENSP00000259324 LRRC8A 810 Volume-regulated anion channel subunit LRRC8A; Essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. LRRC8A and LRRC8D are required for the uptake of the drug cisplatin. Required for in vivo channel activity, together with at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend [...] 9606.ENSP00000259335 KIAA0368 2017 Proteasome-associated protein ECM29 homolog; Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis 9606.ENSP00000259339 TOR1B 336 Torsin-1B; May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neural tissues; Belongs to the ClpA/ClpB family. Torsin subfamily 9606.ENSP00000259351 RALGPS1 557 Ras-specific guanine nucleotide-releasing factor RalGPS1; Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for; Pleckstrin homology domain containing 9606.ENSP00000259357 OR1J1 322 Olfactory receptor 1J1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000259362 OR13C9 318 Olfactory receptor 13C9; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000259365 TMOD1 359 Tropomodulin-1; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus; Tropomodulins 9606.ENSP00000259371 DAB2IP 1132 Disabled homolog 2-interacting protein; Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis, cell survival, angiogenesis, cell migration and maturation. Plays also a role in cell cycle checkpoint control; reduces G1 phase cyclin levels resulting in G0/G1 cell cycle arrest. Mediates signal transduction by receptor-mediated inflammatory signals, such as the tumor necrosis factor (TNF), interferon [...] 9606.ENSP00000259392 SLC31A2 143 Probable low affinity copper uptake protein 2; Involved in low-affinity copper uptake; Solute carriers 9606.ENSP00000259396 ORM1 201 Alpha-1-acid glycoprotein 1; Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction; Belongs to the calycin superfamily. Lipocalin family 9606.ENSP00000259400 STX17 302 Syntaxin-17; SNAREs, soluble N-ethylmaleimide-sensitive factor- attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. STX17 is a SNARE of the autophagosome involved in autophagy through the direct control of autophagosome membrane fusion with the lysosome membrane. May also play a role in the early secretory pathway where it may maintain the architecture of the endoplasmic reticulum-Golgi intermediat [...] 9606.ENSP00000259407 BAAT 418 Bile acid-CoA:amino acid N-acyltransferase; Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile aci [...] 9606.ENSP00000259455 GABBR2 941 Gamma-aminobutyric acid type B receptor subunit 2; Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-depend [...] 9606.ENSP00000259457 PSMB7 277 Proteasome subunit beta type-7; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing prot [...] 9606.ENSP00000259466 OR1L4 311 Olfactory receptor 1L4; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000259467 PDCL 301 Phosducin-like protein; Isoform 1: Functions as a co-chaperone for CCT in the assembly of heterotrimeric G protein complexes, facilitates the assembly of both Gbeta-Ggamma and RGS-Gbeta5 heterodimers 9606.ENSP00000259469 RPL35 123 60S ribosomal protein L35; Component of the large ribosomal subunit 9606.ENSP00000259486 ENPP2 915 Ectonucleotide pyrophosphatase/phosphodiesterase family member 2; Hydrolyzes lysophospholipids to produce lysophosphatidic acid (LPA) in extracellular fluids. Major substrate is lysophosphatidylcholine. Also can act on sphingosylphosphphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility. Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP. Involved in several motility- related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubule formation. Stimula [...] 9606.ENSP00000259512 DERL1 251 Derlin-1; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein. Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for prot [...] 9606.ENSP00000259526 NOV 357 Protein NOV homolog; Immediate-early protein playing a role in various cellular processes including proliferation, adhesion, migration, differentiation and survival. Acts by binding to integrins or membrane receptors such as NOTCH1. Essential regulator of hematopoietic stem and progenitor cell function. Inhibits myogenic differentiation through the activation of Notch-signaling pathway. Inhibits vascular smooth muscle cells proliferation by increasing expression of cell-cycle regulators such as CDKN2B or CDKN1A independently of TGFB1 signaling. Ligand of integrins ITGAV:ITGB3 and ITGA5 [...] 9606.ENSP00000259569 RANBP6 1105 Ran-binding protein 6; May function in nuclear protein import as nuclear transport receptor; Armadillo-like helical domain containing 9606.ENSP00000259605 RNF38 515 E3 ubiquitin-protein ligase RNF38; Acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies. Exhibits preference for UBE2D2 as a E2 enzyme; Ring finger proteins 9606.ENSP00000259607 CCL21 134 C-C motif chemokine 21; Inhibits hemopoiesis and stimulates chemotaxis. Chemotactic in vitro for thymocytes and activated T-cells, but not for B-cells, macrophages, or neutrophils. Shows preferential activity towards naive T-cells. May play a role in mediating homing of lymphocytes to secondary lymphoid organs. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000259608 SIT1 196 Signaling threshold-regulating transmembrane adapter 1; Negatively regulates TCR (T-cell antigen receptor)- mediated signaling in T-cells. Involved in positive selection of T-cells 9606.ENSP00000259631 CCL27 112 C-C motif chemokine 27; Chemotactic factor that attracts skin-associated memory T-lymphocytes. May play a role in mediating homing of lymphocytes to cutaneous sites. Binds to CCR10; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000259632 DCTN3 186 Dynactin subunit 3; Together with dynein may be involved in spindle assembly and cytokinesis; Dynactin 9606.ENSP00000259667 HINT2 163 Histidine triad nucleotide-binding protein 2, mitochondrial; Hydrolase probably involved in steroid biosynthesis. May play a role in apoptosis. Has adenosine phosphoramidase activity; Belongs to the HINT family 9606.ENSP00000259708 KLC4 637 Kinesin light chain 4; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity); Tetratricopeptide repeat domain containing 9606.ENSP00000259711 KIF13A 1805 Kinesin-like protein KIF13A; Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR- containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycli [...] 9606.ENSP00000259727 GMPR 345 GMP reductase 1; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides; Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily 9606.ENSP00000259746 TMEM63B 832 CSC1-like protein 2; Acts as an osmosensitive calcium-permeable cation channel 9606.ENSP00000259750 TTBK1 1321 Tau-tubulin kinase 1; Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU; Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family 9606.ENSP00000259782 TINAG 476 Tubulointerstitial nephritis antigen; Mediates adhesion of proximal tubule epithelial cells via integrins alpha3-beta1 and alphaV-beta3. This is a non catalytic peptidase C1 family protein 9606.ENSP00000259803 GCM1 436 Chorion-specific transcription factor GCMa; Transcription factor involved in the control of expression of placental growth factor (PGF) and other placenta- specific genes. Binds to the trophoblast-specific element 2 (TSE2) of the aromatase gene enhancer. Binds to the SYDE1 promoter. Has a central role in mediating the differentiation of trophoblast cells along both the villous and extravillous pathways in placental development 9606.ENSP00000259806 FOXF2 444 Forkhead box protein F2; Probable transcription activator for a number of lung- specific genes; Forkhead boxes 9606.ENSP00000259808 RIPK1 671 Receptor-interacting serine/threonine-protein kinase 1; Serine-threonine kinase which transduces inflammatory and cell-death signals (programmed necrosis) following death receptors ligation, activation of pathogen recognition receptors (PRRs), and DNA damage. Upon activation of TNFR1 by the TNF-alpha family cytokines, TRADD and TRAF2 are recruited to the receptor. Phosphorylates DAB2IP at 'Ser-728' in a TNF-alpha-dependent manner, and thereby activates the MAP3K5-JNK apoptotic cascade. Ubiquitination by TRAF2 via 'Lys-63'-link chains acts as a critical enhancer of communication with do [...] 9606.ENSP00000259818 TUBB2B 445 Tubulin beta-2B chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Plays a critical role in proper axon guidance in both central and peripheral axon tracts. Implicated in neuronal migration; Tubulins 9606.ENSP00000259845 PSORS1C2 136 Psoriasis susceptibility 1 candidate 2 9606.ENSP00000259870 C6orf15 325 Uncharacterized protein C6orf15; Chromosome 6 open reading frame 15 9606.ENSP00000259873 MRPS18B 258 Mitochondrial ribosomal protein S18B; Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mS40 subfamily 9606.ENSP00000259874 IER3 156 Radiation-inducible immediate-early gene IEX-1; May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A- PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment 9606.ENSP00000259881 PSORS1C1 152 Psoriasis susceptibility 1 candidate 1 9606.ENSP00000259883 PGBD1 809 PiggyBac transposable element-derived protein 1; Scavenger receptor cysteine rich domain containing; DNA transposon derived genes 9606.ENSP00000259895 GTF2H4 462 General transcription factor IIH subunit 4; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II; General transcription factors 9606.ENSP00000259915 POU5F1 360 POU domain, class 5, transcription factor 1; Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency 9606.ENSP00000259938 CLPS 112 Colipase; Colipase is a cofactor of pancreatic lipase. It allows the lipase to anchor itself to the lipid-water interface. Without colipase the enzyme is washed off by bile salts, which have an inhibitory effect on the lipase 9606.ENSP00000259939 RNF144B 303 E3 ubiquitin-protein ligase RNF144B; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin-dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se 9606.ENSP00000259951 HLA-F 442 HLA class I histocompatibility antigen, alpha chain F; Involved in the presentation of foreign antigens to the immune system; C1-set domain containing 9606.ENSP00000259953 NRM 262 Nurim 9606.ENSP00000259963 FAM8A1 413 Protein FAM8A1; Family with sequence similarity 8 member A1 9606.ENSP00000259983 C6orf52 152 Putative uncharacterized protein C6orf52; Chromosome 6 open reading frame 52 9606.ENSP00000259989 FGFBP2 223 Fibroblast growth factor binding protein 2 9606.ENSP00000260010 TLR2 784 Toll-like receptor 2; Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. May also activate immune cells and promote apoptosis in response to the lipid moiety of lipoproteins. Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble [...] 9606.ENSP00000260045 PRKRIR 761 52 kDa repressor of the inhibitor of the protein kinase; Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR- inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth 9606.ENSP00000260102 MRPL15 296 Mitochondrial ribosomal protein L15 9606.ENSP00000260113 PI15 258 Peptidase inhibitor 15; Serine protease inhibitor which displays weak inhibitory activity against trypsin. May play a role in facial patterning during embryonic development (By similarity); Belongs to the CRISP family 9606.ENSP00000260116 TTPA 278 Alpha-tocopherol transfer protein; Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity) 9606.ENSP00000260118 GGH 318 Gamma-glutamyl hydrolase; Hydrolyzes the polyglutamate sidechains of pteroylpolyglutamates. Progressively removes gamma-glutamyl residues from pteroylpoly-gamma-glutamate to yield pteroyl-alpha- glutamate (folic acid) and free glutamate. May play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates; Belongs to the peptidase C26 family 9606.ENSP00000260126 SLCO5A1 848 Solute carrier organic anion transporter family member 5A1; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000260128 SULF1 871 Extracellular sulfatase Sulf-1; Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin. Diminishes HSPG (heparan sulfate proteoglycans) sulfation, inhibits signaling by heparin-dependent growth factors, diminishes proliferation, and facilitates apoptosis in response to exogenous stimulation 9606.ENSP00000260129 TGS1 853 Trimethylguanosine synthase; Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation; Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family 9606.ENSP00000260130 SDCBP 298 Syntenin-1; Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis. Positively regulates TGFB1- mediated SMAD2/3 activation and TGFB1-induced epithelial-to- mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signaling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalization and degradation of TGFR1. In concert with SDC1/4 and PDCD6I [...] 9606.ENSP00000260184 DDX60L 1706 Probable ATP-dependent RNA helicase DDX60-like; Ski2 like RNA helicases; Belongs to the helicase family 9606.ENSP00000260187 USP2 605 Ubiquitin carboxyl-terminal hydrolase 2; Hydrolase that deubiquitinates polyubiquitinated target proteins such as MDM2, MDM4 and CCND1. Isoform 1 and isoform 4 possess both ubiquitin-specific peptidase and isopeptidase activities (By similarity). Deubiquitinates MDM2 without reversing MDM2-mediated p53/TP53 ubiquitination and thus indirectly promotes p53/TP53 degradation and limits p53 activity. Has no deubiquitinase activity against p53/TP53. Prevents MDM2-mediated degradation of MDM4. Plays a role in the G1/S cell-cycle progression in normal and cancer cells. Regulates the circadian [...] 9606.ENSP00000260191 HTR3B 441 5-hydroxytryptamine receptor 3B; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel; 5-hydroxytryptamine receptors, ionotropic 9606.ENSP00000260197 SORL1 2214 Sortilin-related receptor; Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor- associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide [...] 9606.ENSP00000260210 BUD13 619 BUD13 homolog; Spliceosomal P complex; Belongs to the CWC26 family 9606.ENSP00000260227 MMP7 267 Matrilysin; Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase; M10 matrix metallopeptidases 9606.ENSP00000260228 MMP20 483 Matrix metalloproteinase-20; Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site; M10 matrix metallopeptidases 9606.ENSP00000260229 MMP27 513 Matrix metalloproteinase-27; Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens; M10 matrix metallopeptidases 9606.ENSP00000260247 DCUN1D5 237 DCN1-like protein 5; Defective in cullin neddylation 1 domain containing 5 9606.ENSP00000260257 FDXACB1 624 Ferredoxin-fold anticodon-binding domain-containing protein 1; Ferredoxin-fold anticodon binding domain containing 1 9606.ENSP00000260264 POU2F3 438 POU domain, class 2, transcription factor 3; Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Regulated the expression of a number of genes such as SPRR2A or placental lactogen 9606.ENSP00000260270 FDX1 184 Adrenodoxin, mitochondrial; Participates in the synthesis of thyroid hormones. Essential for the synthesis of various steroid hormones, participates in the reduction of mitochondrial cytochrome P450 for steroidogenesis. Transfers electrons from adrenodoxin reductase to CYP11A1, a cytochrome P450 that catalyzes cholesterol side-chain cleavage; Belongs to the adrenodoxin/putidaredoxin family 9606.ENSP00000260276 C11orf1 150 UPF0686 protein C11orf1; Chromosome 11 open reading frame 1; Belongs to the UPF0686 family 9606.ENSP00000260283 ARHGAP20 1191 Rho GTPase-activating protein 20; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state 9606.ENSP00000260302 MMP13 471 Collagenase 3; Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CTGF. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bon [...] 9606.ENSP00000260323 UNC13C 2214 Protein unc-13 homolog C; May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity); UNC13 homologs 9606.ENSP00000260324 SQRDL 450 Sulfide:quinone oxidoreductase, mitochondrial; Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro) 9606.ENSP00000260327 CTDSPL2 466 CTD small phosphatase-like protein 2; Probable phosphatase; CTD family phosphatases 9606.ENSP00000260356 THBS1 1170 Thrombospondin-1; Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Binds heparin. May play a role in dentinogenesis and/or maintenance of dentin and dental pulp (By similarity). Ligand for CD36 mediating antiangiogenic properties. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity) 9606.ENSP00000260361 NDUFAF1 327 Complex I intermediate-associated protein 30, mitochondrial; Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I); Belongs to the CIA30 family 9606.ENSP00000260363 KIF23 960 Kinesin-like protein KIF23; Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signaling. Required for the localization of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family 9606.ENSP00000260372 HAUS2 235 HAUS augmin-like complex subunit 2; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex 9606.ENSP00000260383 TUBGCP4 667 Gamma-tubulin complex component 4; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome 9606.ENSP00000260385 RMDN3 470 Regulator of microtubule dynamics protein 3; Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis; Belongs to the RMDN family 9606.ENSP00000260386 ITPKA 461 Inositol-trisphosphate 3-kinase A; Belongs to the inositol phosphokinase (IPK) family 9606.ENSP00000260402 PLCB2 1185 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes; C2 domain containing phospholipases 9606.ENSP00000260403 TMEM62 643 Transmembrane protein 62 9606.ENSP00000260408 ADAM10 748 Disintegrin and metalloproteinase domain-containing protein 10; Cleaves the membrane-bound precursor of TNF-alpha at '76-Ala-|-Val-77' to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP). Contributes to the normal cleavage of the cellular prion protein. Involved in the cle [...] 9606.ENSP00000260442 BCL2L10 204 Bcl-2-like protein 10; Promotes cell survival. Suppresses apoptosis induced by BAX but not BAK; BCL2 family 9606.ENSP00000260443 RSL24D1 163 Probable ribosome biogenesis protein RLP24; Involved in the biogenesis of the 60S ribosomal subunit. Ensures the docking of GTPBP4/NOG1 to pre-60S particles (By similarity); Belongs to the eukaryotic ribosomal protein eL24 family 9606.ENSP00000260447 GCHFR 84 GTP cyclohydrolase 1 feedback regulatory protein; Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine 9606.ENSP00000260453 MNS1 495 Meiosis-specific nuclear structural protein 1; May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis 9606.ENSP00000260505 TTLL7 887 Tubulin polyglutamylase TTLL7; Polyglutamylase which preferentially modifies beta- tubulin. Mediates both ATP-dependent initiation and elongation of polyglutamylation of microtubules. Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation (By similarity); Belongs to the tubulin--tyrosine ligase family 9606.ENSP00000260508 CCBL2 454 Kynurenine--oxoglutarate transaminase 3; Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se- conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2- oxoglutarate as amino group acceptor (in vitro) (By s [...] 9606.ENSP00000260526 ARHGAP29 1261 Rho GTPase-activating protein 29; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis 9606.ENSP00000260563 RTCA 379 RNA 3'-terminal phosphate cyclase; Catalyzes the conversion of 3'-phosphate to a 2',3'- cyclic phosphodiester at the end of RNA. The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA- N3'PP5'A; (C) and attack of the adjacent 2'-hydroxyl on the 3'- phosphorus in the diester linkage to produce the cyclic end product. The biological role of this enzyme is unknown but it is likely to function in some aspects of cellular RNA processing; Belongs to the RNA 3'-terminal cyclase family. Type 1 subfamily 9606.ENSP00000260570 IFT172 1749 Intraflagellar transport protein 172 homolog; Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity); Belongs to the IFT172 family 9606.ENSP00000260585 EPT1 397 Ethanolaminephosphotransferase 1; Catalyzes phosphatidylethanolamine biosynthesis from CDP-ethanolamine. It thereby plays a central role in the formation and maintenance of vesicular membranes. Involved in the formation of phosphatidylethanolamine via 'Kennedy' pathway 9606.ENSP00000260599 KHK 298 Ketohexokinase; Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate; Belongs to the carbohydrate kinase PfkB family 9606.ENSP00000260600 ADCY3 1144 Adenylate cyclase type 3; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis. Required for the perception of odorants. Required for normal sperm motility and normal male fertility. Plays a role in regulating insulin levels and body fat accumulation in response to a high fat diet; Adenylate cyclases 9606.ENSP00000260643 PREB 417 Prolactin regulatory element-binding protein; Guanine nucleotide exchange factor that specifically activates the small GTPase SAR1B. Mediates the recruitement of SAR1B and other COPII coat components to endoplasmic reticulum membranes and is therefore required for the formation of COPII transport vesicles from the ER; WD repeat domain containing 9606.ENSP00000260645 ABCG5 651 ATP-binding cassette sub-family G member 5; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG8 has ATPase activity; ATP binding cassette subfamily G 9606.ENSP00000260649 SLC3A1 685 Neutral and basic amino acid transport protein rBAT; Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity reabsorption of cystine in the kidney tubule; Solute carriers 9606.ENSP00000260653 SIX3 332 Homeobox protein SIX3; Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that in turn SHH maintains its expression. In addition, Six3 activity is re [...] 9606.ENSP00000260665 LRPPRC 1394 Leucine-rich PPR motif-containing protein, mitochondrial; May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mito [...] 9606.ENSP00000260682 CYP2C9 490 Cytochrome P450 2C9; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. This enzyme contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan 9606.ENSP00000260702 LOXL4 756 Lysyl oxidase homolog 4; May modulate the formation of a collagenous extracellular matrix; Scavenger receptor cysteine rich domain containing 9606.ENSP00000260723 BTBD16 506 BTB/POZ domain-containing protein 16; BTB domain containing 16 9606.ENSP00000260731 KIF11 1056 Kinesin-like protein KIF11; Motor protein required for establishing a bipolar spindle during mitosis. Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily 9606.ENSP00000260743 CALHM2 323 Calcium homeostasis modulator protein 2; Pore-forming subunit of a voltage-gated ion channel; Calcium homeostasis modulators 9606.ENSP00000260746 ARL3 182 ADP-ribosylation factor-like protein 3; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Required for normal cytokinesis and cilia signaling. Requires assistance from GTPase- activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins such as NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapt [...] 9606.ENSP00000260762 EXOC6 804 Exocyst complex component 6; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity) 9606.ENSP00000260803 DBR1 544 Lariat debranching enzyme; Cleaves the 2'-5' phosphodiester linkage at the branch point of lariat intron pre-mRNAs after splicing and converts them into linear molecules that are subsequently degraded. It thereby facilitates ribonucleotide turnover. It may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis; Belongs to the lariat debranching enzyme family 9606.ENSP00000260810 TOPBP1 1522 DNA topoisomerase 2-binding protein 1; Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint control. Binds double- stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF chromatin remodeling complex to E2F1- responsive promoters. Down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S transition and after DNA damage. Induces a large increase in the kinase activity of ATR 9606.ENSP00000260818 DNAJC13 2243 DnaJ homolog subfamily C member 13; Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR. Involved in the regulation of endosomal membrane tubulation and regulates th dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex; Armadillo-like helical domain containing 9606.ENSP00000260843 GPR87 358 G-protein coupled receptor 87; Receptor for lysophosphatidic acid (LPA). Necessary for p53/TP53-dependent survival in response to DNA damage; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000260947 BARD1 777 BRCA1-associated RING domain protein 1; E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II [...] 9606.ENSP00000260950 MSTN 375 Growth/differentiation factor 8; Acts specifically as a negative regulator of skeletal muscle growth; Belongs to the TGF-beta family 9606.ENSP00000260952 ASNSD1 643 Asparagine synthetase domain containing 1 9606.ENSP00000260953 METTL5 209 Methyltransferase-like protein 5; Probable methyltransferase 9606.ENSP00000260970 PPIG 754 Peptidyl-prolyl cis-trans isomerase G; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be implicated in the folding, transport, and assembly of proteins. May play an important role in the regulation of pre-mRNA splicing; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000260983 HECW2 1572 E3 ubiquitin-protein ligase HECW2; E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73. Involved in the regulation of mitotic metaphase/anaphase transition; C2 domain containing 9606.ENSP00000260988 CRYGB 175 Gamma-crystallin B; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family 9606.ENSP00000261007 CHRNA1 482 Acetylcholine receptor subunit alpha; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits 9606.ENSP00000261015 WDR12 423 Ribosome biogenesis protein WDR12; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome; WD repeat domain containing 9606.ENSP00000261023 ITGAV 1048 Integrin alpha-V; The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling. ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling. ITGAV:ITGB3 binds to IGF [...] 9606.ENSP00000261024 SLC40A1 571 Solute carrier family 40 member 1; May be involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. Mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin); Belongs to the ferroportin (FP) (TC 2.A.100) family. SLC40A subfamily 9606.ENSP00000261037 COL8A1 744 Collagen alpha-1(VIII) chain; Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis; Collagens 9606.ENSP00000261038 DIRC2 478 Disrupted in renal carcinoma protein 2; Electrogenic metabolite transporter; Belongs to the major facilitator superfamily 9606.ENSP00000261047 GUCA1C 209 Guanylyl cyclase-activating protein 3; Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low and inhibits guanylyl cyclases when free calcium ions concentration is elevated. This Ca(2+)- sensitive regulation of guanylyl cyclase (GC) is a key event in recovery of the dark state of rod photoreceptors following light exposure; EF-hand domain containing 9606.ENSP00000261058 CCDC54 328 Coiled-coil domain containing 54 9606.ENSP00000261070 COX17 63 Cytochrome c oxidase copper chaperone; Copper chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A) site of COX (By similarity); Mitochondrial respiratory chain complex assembly factors 9606.ENSP00000261167 WBP11 641 WW domain-binding protein 11; Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity; Protein phosphatase 1 regulatory subunits 9606.ENSP00000261170 GUCY2C 1073 Heat-stable enterotoxin receptor; Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin; Guanylate cyclase receptors 9606.ENSP00000261172 EPYC 322 Epiphycan; May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily 9606.ENSP00000261177 TSPAN11 253 Tetraspanin-11; Tetraspanin 11; Tetraspanins 9606.ENSP00000261180 TRHDE 1024 Thyrotropin-releasing hormone-degrading ectoenzyme; Specific inactivation of TRH after its release; Belongs to the peptidase M1 family 9606.ENSP00000261183 OSBPL8 889 Oxysterol-binding protein-related protein 8; Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner. Binds oxysterol, 25- hydroxycholesterol and cholesterol; Belongs to the OSBP family 9606.ENSP00000261187 SLC16A7 478 Monocarboxylate transporter 2; Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Functions as high-affinity pyruvate transporter; Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family 9606.ENSP00000261191 ASUN 706 Integrator complex subunit 13; Crucial regulator of the mitotic cell cycle and development. At prophase, required for dynein anchoring to the nuclear envelope important for proper centrosome-nucleus coupling. At G2/M phase, may be required for proper spindle formation and execution of cytokinesis. Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing 9606.ENSP00000261195 GYS2 703 Glycogen [starch] synthase, liver; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan; Glycosyl transferases group 1 domain containing 9606.ENSP00000261196 SLCO1B3 702 Solute carrier organic anion transporter family member 1B3; Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000261200 ABCC9 1549 ATP-binding cassette sub-family C member 9; Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily 9606.ENSP00000261205 SYT1 422 Synaptotagmin-1; May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes; Synaptotagmins 9606.ENSP00000261208 HAL 657 Histidine ammonia-lyase 9606.ENSP00000261211 CDK17 523 Cyclin-dependent kinase 17; May play a role in terminally differentiated neurons. Has a Ser/Thr-phosphorylating activity for histone H1 (By similarity); Cyclin dependent kinases 9606.ENSP00000261226 TMCC3 477 Transmembrane and coiled-coil domain containing; Belongs to the TEX28 family 9606.ENSP00000261233 IRAK3 596 Interleukin-1 receptor-associated kinase 3; Inhibits dissociation of IRAK1 and IRAK4 from the Toll- like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily 9606.ENSP00000261234 TMEM5 443 UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase; UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N- acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate- 6-)mannose), a carbohydrate structure present in alpha- dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D- xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P lin [...] 9606.ENSP00000261245 MNAT1 309 CDK-activating kinase assembly factor MAT1; Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II; Nucleo [...] 9606.ENSP00000261249 TRMT5 509 tRNA (guanine(37)-N1)-methyltransferase; Involved in mitochondrial tRNA methylation. Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding 9606.ENSP00000261250 C12orf4 552 Protein C12orf4; Plays a role in mast cell degranulation 9606.ENSP00000261254 CCND2 289 G1/S-specific cyclin-D2; Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. A [...] 9606.ENSP00000261263 RAB21 225 Ras-related protein Rab-21; Regulates integrin internalization and recycling, but does not influence the traffic of endosomally translocated receptors in general. As a result, may regulate cell adhesion and migration (By similarity). During the mitosis of adherent cells, controls the endosomal trafficking of integrins which is required for the successful completion of cytokinesis. Involved in neurite growth (By similarity); RAB, member RAS oncogene GTPases 9606.ENSP00000261267 LYZ 148 Lysozyme C; Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte- macrophage system and enhance the activity of immunoagents; Lysozymes, c-type 9606.ENSP00000261275 FAM189A1 539 Protein FAM189A1; Family with sequence similarity 189 member A1; Belongs to the FAM189 family 9606.ENSP00000261292 LIPG 500 Endothelial lipase; Has phospholipase and triglyceride lipase activities. Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins. Binds heparin; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000261296 TGDS 350 dTDP-D-glucose 4,6-dehydratase; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000261303 PSMC1 440 26S proteasome regulatory subunit 4; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with [...] 9606.ENSP00000261304 GALC 685 Galactocerebrosidase; Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon; Belongs to the glycosyl hydrolase 59 family 9606.ENSP00000261308 PPWD1 646 Peptidylprolyl isomerase domain and WD repeat-containing protein 1; Putative peptidylprolyl isomerase (PPIase). PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000261313 PEBP1 187 Phosphatidylethanolamine-binding protein 1; Binds ATP, opioids and phosphatidylethanolamine. Has lower affinity for phosphatidylinositol and phosphatidylcholine. Serine protease inhibitor which inhibits thrombin, neuropsin and chymotrypsin but not trypsin, tissue type plasminogen activator and elastase (By similarity). Inhibits the kinase activity of RAF1 by inhibiting its activation and by dissociating the RAF1/MEK complex and acting as a competitive inhibitor of MEK phosphorylation 9606.ENSP00000261318 C12orf49 205 UPF0454 protein C12orf49; Chromosome 12 open reading frame 49; Belongs to the UPF0454 family 9606.ENSP00000261326 MOCOS 888 Molybdenum cofactor sulfurase; Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime; Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. MOCOS subfamily 9606.ENSP00000261332 ZNF24 368 Zinc finger protein 24; Transcription factor required for myelination of differentiated oligodendrocytes. Required for the conversion of oligodendrocytes from the premyelinating to the myelinating state. In the developing central nervous system (CNS), involved in the maintenance in the progenitor stage by promoting the cell cycle. Specifically binds to the 5'-TCAT-3' DNA sequence (By similarity). Has transcription repressor activity in vitro; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000261336 PZP 1482 Pregnancy zone protein; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the c [...] 9606.ENSP00000261340 CLEC2D 194 C-type lectin domain family 2 member D; Receptor for KLRB1 that protects target cells against natural killer cell-mediated lysis. Inhibits osteoclast formation. Inhibits bone resorption. Modulates the release of interferon-gamma. Binds high molecular weight sulfated glycosaminoglycans; C-type lectin domain containing 9606.ENSP00000261349 LRP6 1613 Low-density lipoprotein receptor-related protein 6; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor- ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3- mediated phosphorylation and destruction o [...] 9606.ENSP00000261366 LMNB1 586 Lamin-B1; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin 9606.ENSP00000261368 SNCAIP 919 Synphilin-1; Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1; Ankyrin repeat domain containing 9606.ENSP00000261369 SNX24 169 Sorting nexin-24; May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family 9606.ENSP00000261374 HS3ST2 367 Heparan sulfate glucosamine 3-O-sulfotransferase 2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N- unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in GlcA2S-GlcNS. Unlike 3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate 9606.ENSP00000261377 LOC81691 774 Putative RNA exonuclease NEF-sp 9606.ENSP00000261381 XYLT1 959 Xylosyltransferase 1; Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes; Belongs to the glycosyltransferase 14 family. XylT subfamily 9606.ENSP00000261383 DNAH3 4116 Dynein heavy chain 3, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity); Belongs to the dynein heavy chain family 9606.ENSP00000261386 GDE1 331 Glycerophosphodiester phosphodiesterase 1; Has glycerophosphoinositol phosphodiesterase activity. Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Has little or no activity towards glycerophosphocholine. GDE1 activity can be modulated by G-protein signaling pathways (By similarity) 9606.ENSP00000261396 NUP133 1156 Nuclear pore complex protein Nup133; Involved in poly(A)+ RNA transport; Belongs to the nucleoporin Nup133 family 9606.ENSP00000261402 NUAK1 661 NUAK family SNF1-like kinase 1; Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of 'Ser-464' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP [...] 9606.ENSP00000261405 VWF 2813 Von Willebrand factor; Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma; Endogenous ligands 9606.ENSP00000261407 LPCAT3 487 Lysophospholipid acyltransferase 5; Acyltransferase which mediates the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3- phosphocholine or PC) (LPCAT activity). Catalyzes also the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero- 3-phospho-L-serine or LPS) into phosphatidylserine (1,2-diacyl-sn- glycero-3-phospho-L-serine or PS) (LPSAT activity). Has also weak lysophosphatidylethanolamine acyltransferase activity (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors com [...] 9606.ENSP00000261416 HEXB 556 Beta-hexosaminidase subunit beta; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues; Belongs to the glycosyl hydrolase 20 family 9606.ENSP00000261427 UBE2K 200 Ubiquitin-conjugating enzyme E2 K; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam [...] 9606.ENSP00000261434 LIAS 372 Lipoyl synthase, mitochondrial; Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives 9606.ENSP00000261435 N4BP2 1770 NEDD4-binding protein 2; Has 5'-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination 9606.ENSP00000261438 KLF3 345 Krueppel-like factor 3; Binds to the CACCC box of erythroid cell-expressed genes. May play a role in hematopoiesis (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000261439 TBC1D1 1168 TBC1 domain family member 1; May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity) 9606.ENSP00000261441 RSBN1 802 Lysine-specific demethylase 9; Histone demethylase that specifically demethylates dimethylated 'Lys-20' of histone H4 (H4K20me2), thereby modulating chromosome architecture; Belongs to the round spermatid basic protein 1 family 9606.ENSP00000261448 CASQ2 399 Calsequestrin-2; Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats; Protein disulfide isomerases 9606.ENSP00000261461 PPP2R5A 486 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; Armadillo-like helical domain containing 9606.ENSP00000261464 TRAF5 557 TNF receptor-associated factor 5; Adapter protein and signal transducer that links members of the tumor necrosis factor receptor family to different signaling pathways by association with the receptor cytoplasmic domain and kinases. Mediates activation of NF-kappa-B and probably JNK. Seems to be involved in apoptosis. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR; Ring finger proteins 9606.ENSP00000261475 PPP2R3C 453 Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma; May regulate MCM3AP phosphorylation through phosphatase recruitment. May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex. May play a role in the activation-induced cell death of B-cells; Protein phosphatase 2 regulatory subunits 9606.ENSP00000261479 PSMA6 246 Proteasome subunit alpha type-6; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] 9606.ENSP00000261483 MAN2A1 1144 Alpha-mannosidase 2; Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway; Belongs to the glycosyl hydrolase 38 family 9606.ENSP00000261486 EPB41L4A 686 Erythrocyte membrane protein band 4.1 like 4A; FERM domain containing 9606.ENSP00000261488 ENOX1 643 Ecto-NOX disulfide-thiol exchanger 1; Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock; RNA binding motif containing 9606.ENSP00000261497 USP22 525 Ubiquitin carboxyl-terminal hydrolase 22; Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression 9606.ENSP00000261499 B9D1 204 B9 domain-containing protein 1; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity); Belongs to the B9D family 9606.ENSP00000261503 SPECC1 1068 Cytospin-B; Sperm antigen with calponin homology and coiled-coil domains 1 9606.ENSP00000261507 MSMO1 293 Methylsterol monooxygenase 1; Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol; Belongs to the sterol desaturase family 9606.ENSP00000261514 CLCN3 866 H(+)/Cl(-) exchange transporter 3; Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory; Chloride voltage-gated channels 9606.ENSP00000261517 VPS13C 3753 Vacuolar protein sorting-associated protein 13C; Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential. Involved in the regulation of PINK1/PRKN-mediated mitophagy in response to mitochondrial depolarization 9606.ENSP00000261520 ICE2 982 Little elongation complex subunit 2; Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III; Belongs to the ICE2 family 9606.ENSP00000261523 RORA 556 Nuclear receptor ROR-alpha; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity [...] 9606.ENSP00000261530 GPATCH2L 482 G patch domain-containing protein 2-like; G-patch domain containing 2 like 9606.ENSP00000261531 SNW1 536 SNW domain-containing protein 1; Involved in transcriptional regulation. Modulates TGF- beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1- mediated transcriptional repression, and retinoid-X receptor (RXR)- and vitamin D receptor (VDR)-dependent gene transcription in a cell line-specific manner probably involving coactivators NCOA1 and GRIP1. Is involved in NOTCH1-mediated transcriptional activation. Binds to multimerized forms of Notch intracellular domain (NICD) and is proposed to recruit transcriptional coac [...] 9606.ENSP00000261534 POMT2 750 Protein O-mannosyl-transferase 2; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient; Belongs to the glycosyltransferase 39 family 9606.ENSP00000261537 MIB1 1006 E3 ubiquitin-protein ligase MIB1; E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF- induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits [...] 9606.ENSP00000261556 TMEM260 707 Transmembrane protein 260; Belongs to the TMEM260 family 9606.ENSP00000261558 AP5M1 490 AP-5 complex subunit mu-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:18395520, it may play a role in cell death; Belongs to the adaptor complexes medium subunit family 9606.ENSP00000261560 ZNF430 570 Zinc finger protein 430; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000261574 IPO5 1115 Importin-5; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...] 9606.ENSP00000261584 PALB2 1186 Partner and localizer of BRCA2; Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilizes the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombinat [...] 9606.ENSP00000261588 KIAA0556 1618 Protein KIAA0556; May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex 9606.ENSP00000261590 DSG2 1118 Desmoglein-2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion; Desmosomal cadherins 9606.ENSP00000261592 NOL4 638 Nucleolar protein 4 9606.ENSP00000261593 RNF138 245 E3 ubiquitin-protein ligase RNF138; E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination. Recruited to sites of double- strand breaks following DNA damage and specifically promotes double-strand break repair via homologous recombination. Two different, non-exclusive, mechanisms have been proposed. According to a report, regulates the choice of double-strand break repair by favoring homologous recombination over non-homologous end joining (NHEJ): acts by mediating ubiquitination of XRCC5/Ku80, leading to remove the Ku comple [...] 9606.ENSP00000261596 LPIN2 896 Phosphatidate phosphatase LPIN2; Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity); Lipins 9606.ENSP00000261597 NDC80 642 Kinetochore protein NDC80 homolog; Acts as a component of the essential kinetochore- associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules. Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spin [...] 9606.ENSP00000261600 THOC1 657 THO complex subunit 1; Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TA [...] 9606.ENSP00000261601 USP14 494 Ubiquitin carboxyl-terminal hydrolase 14; Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins. Ensures the regeneration of ubiquitin at the proteasome. Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell. Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis. Serves also as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibi [...] 9606.ENSP00000261609 HERC2 4834 E3 ubiquitin-protein ligase HERC2; E3 ubiquitin-protein ligase that regulates ubiquitin- dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscill [...] 9606.ENSP00000261622 SLC7A5 507 Large neutral amino acids transporter small subunit 1; Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood- brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of m [...] 9606.ENSP00000261623 CYBA 195 Cytochrome b-245 light chain; Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide 9606.ENSP00000261636 ARL1 181 ADP-ribosylation factor-like protein 1; GTP-binding protein that has very low efficiency as allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Can activate phospholipase D with very low efficiency. Important for normal function of the Golgi apparatus; ARF GTPase family 9606.ENSP00000261637 UTP20 2785 Small subunit processome component 20 homolog; Involved in 18S pre-rRNA processing. Associates with U3 snoRNA; Armadillo-like helical domain containing 9606.ENSP00000261643 COX10 443 Protoheme IX farnesyltransferase, mitochondrial; Converts protoheme IX and farnesyl diphosphate to heme O; Mitochondrial respiratory chain complex assembly factors 9606.ENSP00000261647 TTC19 380 Tetratricopeptide repeat protein 19, mitochondrial; Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1. Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity; Tetratricopeptide repeat domain containing 9606.ENSP00000261652 TNFRSF13B 293 Tumor necrosis factor receptor superfamily member 13B; Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T- cell function and the regulation of humoral immunity; CD molecules 9606.ENSP00000261654 GPR133 874 Adhesion G-protein coupled receptor D1; Orphan receptor. Signals via G(s)-alpha family of G- proteins. Has protumorigenic function especially in glioblastoma 9606.ENSP00000261655 RIMBP2 1052 RIMS-binding protein 2; Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B; Protein phosphatase 1 regulatory subunits 9606.ENSP00000261658 BFAR 450 Bifunctional apoptosis regulator; Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors; Ring finger proteins 9606.ENSP00000261667 KPNA3 521 Importin subunit alpha-4; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta ar [...] 9606.ENSP00000261681 MPP5 675 MAGUK p55 subfamily member 5; May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity); Belongs to the MAGUK family 9606.ENSP00000261692 CDK2AP1 115 Cyclin-dependent kinase 2-associated protein 1; Specific inhibitor of the cell-cycle kinase CDK2 9606.ENSP00000261693 SCARB1 509 Scavenger receptor class B member 1; Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells. Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux. Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity; Scavenger receptors 9606.ENSP00000261700 C14orf166 244 RNA transcription, translation and transport factor protein; RNA-binding protein involved in modulation of mRNA transcription by Polymerase II. Component of the tRNA-splicing ligase complex and is required for tRNA ligation. May be required for RNA transport 9606.ENSP00000261707 SLC6A4 630 Sodium-dependent serotonin transporter; Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A4 subfamily 9606.ENSP00000261708 UTP6 597 U3 small nucleolar RNA-associated protein 6 homolog; Involved in nucleolar processing of pre-18S ribosomal RNA; UTPb subcomplex 9606.ENSP00000261712 PSMD11 422 26S proteasome non-ATPase regulatory subunit 11; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. In the complex, PSMD11 is required for proteasome assembly. P [...] 9606.ENSP00000261714 BLMH 455 Bleomycin hydrolase; The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B- aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity 9606.ENSP00000261716 TAOK1 1001 Serine/threonine-protein kinase TAO1; Serine/threonine-protein kinase involved in various processes such as p38/MAPK14 stress-activated MAPK cascade, DNA damage response and regulation of cytoskeleton stability. Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade by mediating phosphorylation and subsequent activation of the upstream MAP2K3 and MAP2K6 kinases. Involved in G-protein coupled receptor signaling to p38/MAPK14. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK1 [...] 9606.ENSP00000261721 BTBD1 482 BTB/POZ domain-containing protein 1; Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; BTB domain containing 9606.ENSP00000261726 CUX2 1486 Homeobox protein cut-like 2; May be a transcription factor involved in neural specification. Binds to DNA in a sequence-specific manner (By similarity); CUT class homeoboxes and pseudogenes 9606.ENSP00000261731 LHX5 402 LIM/homeobox protein Lhx5; Plays an essential role in the regulation of neuronal differentiation and migration during development of the central nervous system; LIM class homeoboxes 9606.ENSP00000261733 ALDH2 517 Aldehyde dehydrogenase, mitochondrial; Aldehyde dehydrogenase 2 family member; Belongs to the aldehyde dehydrogenase family 9606.ENSP00000261735 ERP29 261 Endoplasmic reticulum resident protein 29; Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER 9606.ENSP00000261739 ANKRD13A 590 Ankyrin repeat domain-containing protein 13A; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand- activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane; Ankyrin repeat domain containing 9606.ENSP00000261745 NAA25 972 N-alpha-acetyltransferase 25, NatB auxiliary subunit; Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp-Glu. May play a role in normal cell-cycle progression; Belongs to the MDM20/NAA25 family 9606.ENSP00000261749 ZFAND6 208 AN1-type zinc finger protein 6; Involved in regulation of TNF-alpha induced NF-kappa-B activation and apoptosis. Involved in modulation of 'Lys-48'- linked polyubiquitination status of TRAF2 and decreases association of TRAF2 with RIPK1. Required for PTS1 target sequence-dependent protein import into peroxisomes and PEX5 stability; may cooperate with PEX6. In vitro involved in PEX5 export from the cytosol to peroxisomes (By similarity); Zinc fingers AN1-type 9606.ENSP00000261751 CHRNB4 498 Neuronal acetylcholine receptor subunit beta-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 4/CHRNB4 sub-subfamily 9606.ENSP00000261758 MESDC2 234 LRP chaperone MESD; Chaperone specifically assisting the folding of beta- propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane. Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell- surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By sim [...] 9606.ENSP00000261769 CDH1 882 Cadherin-1; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells. Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7 9606.ENSP00000261772 AARS 968 Alanine--tRNA ligase, cytoplasmic; Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000261776 VAC14 782 Protein VAC14 homolog; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes; Belongs to the VAC14 family 9606.ENSP00000261778 TANGO6 1094 Transport and golgi organization 6 homolog; Armadillo-like helical domain containing 9606.ENSP00000261783 ARG2 354 Arginase-2, mitochondrial; May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to nitric oxid synthase (NOS). Arginine metabolism is a critical regulator of innate and adaptive immune responses. Seems to be involved in negative regulation of the survival capacity of activated CD4(+) and CD8(+) T cells. May suppress inflammation-related signaling in asthmatic airway epithelium. May contribute to the immune evasion of H.pylori by restricting [...] 9606.ENSP00000261789 ENSG00000100926 606 Transmembrane 9 superfamily member; Plays an essential role in autophagy; Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family 9606.ENSP00000261796 IL17B 180 Interleukin-17B; Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1; Interleukins 9606.ENSP00000261797 NDST1 882 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate [...] 9606.ENSP00000261799 PDGFRB 1106 Platelet-derived growth factor receptor beta; Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at v [...] 9606.ENSP00000261800 FAT2 4349 Protocadherin Fat 2; Plays a role in the migration of epidermal cells. May modulate the extracellular space surronding parallel fibers of cerebellar during development (By similarity); Cadherin related 9606.ENSP00000261811 CYSTM1 97 Cysteine-rich and transmembrane domain-containing protein 1; Cysteine rich transmembrane module containing 1 9606.ENSP00000261813 PFDN1 122 Prefoldin subunit 1; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Prefoldin subunits 9606.ENSP00000261819 ANAPC5 755 Anaphase-promoting complex subunit 5; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains 9606.ENSP00000261835 CYP46A1 500 Cholesterol 24-hydroxylase; Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole; Cytochrome P450 family 46 9606.ENSP00000261837 GNB5 395 Guanine nucleotide-binding protein subunit beta-5; Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors. May play an important role in neuronal signaling, including in the par [...] 9606.ENSP00000261839 MYO5C 1742 Unconventional myosin-Vc; May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues; Myosins, class V 9606.ENSP00000261842 AP4E1 1137 AP-4 complex subunit epsilon-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper [...] 9606.ENSP00000261845 MAPK6 721 Mitogen-activated protein kinase 6; Atypical MAPK protein. Phosphorylates microtubule- associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK3/MAPK6 is phosphorylated at Ser-189 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6. May promote entry in the cell cycle (By similarity); Mitogen-activated protein kinases 9606.ENSP00000261854 SPPL2A 520 Signal peptide peptidase-like 2A; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD). May play a role in the regulation of innate and [...] 9606.ENSP00000261858 GLCE 617 D-glucuronyl C5-epimerase; Converts D-glucuronic acid residues adjacent to N- sulfate sugar residues to L-iduronic acid residues, both in maturing heparan sulfate (HS) and heparin chains. This is important for further modifications that determine the specificity of interactions between these glycosaminoglycans and proteins; Belongs to the D-glucuronyl C5-epimerase family 9606.ENSP00000261866 SPG11 2443 Spatacsin; May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport 9606.ENSP00000261867 SLC30A4 429 Zinc transporter 4; Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment; Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily 9606.ENSP00000261868 EIF3J 258 Eukaryotic translation initiation factor 3 subunit J; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000261875 PTPLAD1 362 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3; Catalyzes the third of the four reactions of the long- chain fatty acids elongation cycle. This endoplasmic reticulum- bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precurs [...] 9606.ENSP00000261879 APH1B 257 Gamma-secretase subunit APH-1B; Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A 9606.ENSP00000261880 AAGAB 315 Alpha- and gamma-adaptin-binding protein p34; May be involved in endocytic recycling of growth factor receptors such as EGFR 9606.ENSP00000261881 TIPIN 301 TIMELESS-interacting protein; Plays an important role in the control of DNA replication and the maintenance of replication fork stability. Important for cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. Forms a complex with TIMELESS and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic st [...] 9606.ENSP00000261883 CILP 1184 Cartilage intermediate layer protein 1; Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage; Immunoglobulin like d [...] 9606.ENSP00000261884 TRIP4 581 Activating signal cointegrator 1; Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription. May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions. Plays a role in thyroid hormone receptor and estrogen receptor transactivation. Also involved in androgen receptor transactivation (By similarity). Plays a pivotal role in the transactivation of NF-kap [...] 9606.ENSP00000261888 PARP16 323 Mono [ADP-ribose] polymerase PARP16; Intracellular mono-ADP-ribosyltransferase that may play a role in different processes through the mono-ADP-ribosylation of proteins involved in those processes. May play a role in the unfolded protein response (UPR), by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors. May also mediate mono- ADP-ribosylation of karyopherin KPNB1 a nuclear import factor. May not modify proteins on arginine, cysteine or glutamate residues compared to other mono-ADP- ribosyltransferases; Poly(ADP-ribose) polymerases 9606.ENSP00000261889 SNX1 557 Sorting nexin-1; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3- phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called e [...] 9606.ENSP00000261890 RAB11A 216 Ras-related protein Rab-11A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial cell polarization. T [...] 9606.ENSP00000261891 DAPK2 370 Death-associated protein kinase 2; Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in g [...] 9606.ENSP00000261892 SLC24A1 1099 Sodium/potassium/calcium exchanger 1; Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+); Solute carriers 9606.ENSP00000261893 LACTB 547 Serine beta-lactamase-like protein LACTB, mitochondrial; Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism. Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism. It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein. Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cell [...] 9606.ENSP00000261900 CCNT1 726 Cyclin-T1; Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which is proposed to facilitate the transition from abortive to productive elongation by phosphorylating the CTD (carboxy-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II); Cyclins 9606.ENSP00000261917 HCN4 1203 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4; Hyperpolarization-activated ion channel with very slow activation and inactivation exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat. May contribute to the native pacemaker currents in neurons (Ih). May mediate responses to sour stimuli 9606.ENSP00000261918 SEMA7A 666 Semaphorin-7A; Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes; Belongs to the sem [...] 9606.ENSP00000261921 LOXL1 574 Lysyl oxidase homolog 1; Active on elastin and collagen substrates 9606.ENSP00000261937 FLT4 1363 Vascular endothelial growth factor receptor 3; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. Promotes proliferation, survival and migration of endothelial cells, and regulates angiogenic sprouting. Signaling by activated FLT4 leads to enhanced production of VEGFC, and to a lesser degree VEGFA, thereby creating a positive feedback loop that enhances FLT4 signaling. Modulates KDR signaling by [...] 9606.ENSP00000261942 FAF2 445 FAS-associated factor 2; Plays an important role in endoplasmic reticulum- associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis; UBX domain containing 9606.ENSP00000261965 TUBGCP3 907 Gamma-tubulin complex component 3; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome 9606.ENSP00000261973 RBM25 843 RNA-binding protein 25; RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5'-splice site (5'-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5'-ss usage through the 5'-CGGGCA-3' RNA sequence. Its association with LUC7 [...] 9606.ENSP00000261978 LTBP2 1821 Latent-transforming growth factor beta-binding protein 2; May play an integral structural role in elastic-fiber architectural organization and/or assembly; Latent transforming growth factor beta binding proteins 9606.ENSP00000261980 VSX2 361 Visual system homeobox 2; Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By similarity); Belongs to the paired homeobox family 9606.ENSP00000261994 SERPINA10 444 Protein Z-dependent protease inhibitor; Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors; Belongs to the serpin family 9606.ENSP00000262013 SPAG9 1321 C-Jun-amino-terminal kinase-interacting protein 4; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Isoform 5 may play a role in spermatozoa-egg- interaction 9606.ENSP00000262018 SGCA 387 Alpha-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix 9606.ENSP00000262027 MARS 900 Methionine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA; Belongs to the class-I aminoacyl-tRNA synthetase family 9606.ENSP00000262030 ATP5B 529 ATP synthase subunit beta, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the c [...] 9606.ENSP00000262031 RBMS2 407 RNA-binding motif, single-stranded-interacting protein 2; RNA binding motif single stranded interacting protein 2 9606.ENSP00000262032 IKZF4 585 Zinc finger protein Eos; DNA-binding protein that binds to the 5'GGGAATRCC-3' Ikaros-binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be involved in the development of central and peripheral nervous systems. Essential for the inhibitory function of regulatory T- cells (Treg). Mediates FOXP3-mediated gene silencing in regulatory T-cells (Treg) via recruitment of corepressor CTBP1 (By similarity) 9606.ENSP00000262039 PIK3C3 887 Phosphatidylinositol 3-kinase catalytic subunit type 3; Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2. Involved in the transport of lysosomal enzyme precursors to lysosomes. Requ [...] 9606.ENSP00000262041 MEOX2 304 Homeobox protein MOX-2; Mesodermal transcription factor that plays a key role in somitogenesis and is required for sclerotome development (By similarity). Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. May have a regulatory role when quiescent vascular smooth muscle cells reenter the cell cycle; HOXL subclass homeoboxes 9606.ENSP00000262043 PHF3 2039 PHD finger protein 3 9606.ENSP00000262053 ATF1 271 Cyclic AMP-dependent transcription factor ATF-1; This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes. Represses the expression of FTH1 and other antioxidant detoxification genes. Triggers cell proliferation and transformation; Basic leucine zipper proteins 9606.ENSP00000262065 MMD 238 Monocyte to macrophage differentiation factor; Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion; Progestin and adipoQ receptor family 9606.ENSP00000262067 TSPAN13 204 Tetraspanin-13; Tetraspanin 13; Tetraspanins 9606.ENSP00000262094 RAB27B 218 Ras-related protein Rab-27B; May be involved in targeting uroplakins to urothelial apical membranes; RAB, member RAS oncogene GTPases 9606.ENSP00000262096 ZDHHC2 367 Palmitoyltransferase ZDHHC2; Palmitoyltransferase specific for GAP43 and DLG4/PSD95; Zinc fingers DHHC-type 9606.ENSP00000262101 MSR1 451 Macrophage scavenger receptor types I and II; Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low density lipoproteins (LDL). Isoform III does not internalize acetylated LDL 9606.ENSP00000262102 MTUS1 1270 Microtubule-associated tumor suppressor 1; Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth; Belongs to the MTUS1 family 9606.ENSP00000262103 EFCAB1 211 EF-hand calcium-binding domain-containing protein 1; EF-hand calcium binding domain 1 9606.ENSP00000262105 MCM4 863 DNA replication licensing factor MCM4; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] 9606.ENSP00000262109 ERICH1 443 Glutamate-rich protein 1; Glutamate rich 1 9606.ENSP00000262113 MYOM2 1465 Myomesin-2; Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent; Fibronectin type III domain containing 9606.ENSP00000262120 TWSG1 223 Twisted gastrulation protein homolog 1; May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development (By similarity) 9606.ENSP00000262126 ANKRD12 2062 Ankyrin repeat domain-containing protein 12; May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation; Ankyrin repeat domain containing 9606.ENSP00000262127 CEP76 659 Centrosomal protein of 76 kDa; Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication; Belongs to the CEP76 family 9606.ENSP00000262133 RBL2 1139 Retinoblastoma-like protein 2; Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys- 20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentiall [...] 9606.ENSP00000262134 LPCAT2 544 Lysophosphatidylcholine acyltransferase 2; Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-dependent. Involved in platelet- activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso- PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF). Also converts lyso-PAF to 1-O-alkyl-2-acyl-sn-glycero-3- phosphocholine (PC), a major component of cell membranes and a PAF precursor. Under resting conditions, acyltransferase activity is preferred. Upon acute inflammatory stimulus, [...] 9606.ENSP00000262138 CACNG4 327 Voltage-dependent calcium channel gamma-4 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state 9606.ENSP00000262139 WIPI1 446 WD repeat domain phosphoinositide-interacting protein 1; Plays an important role in autophagy and in particular starvation- and calcium-mediated autophagy, as well as in mitophagy. Functions upstream of the ATG12-ATG5-ATG16L1 complex and LC3, and downstream of the ULK1 and PI3-kinase complexes. Involved in xenophagy of Staphylococcus aureus. Invading S.aureus cells become entrapped in autophagosome-like WIPI1 positive vesicles targeted for lysosomal degradation. Plays also a distinct role in controlling the transcription of melanogenic enzymes and melanosome maturation, a process that [...] 9606.ENSP00000262144 WDR59 974 GATOR complex protein WDR59; As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex. It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1; Belongs to the WD repeat WDR59 family 9606.ENSP00000262146 MTFR1 333 Mitochondrial fission regulator 1; May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity) 9606.ENSP00000262150 CDH19 772 Cadherin-19; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000262158 SMAD7 426 Mothers against decapentaplegic homolog 7; Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A- PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a [...] 9606.ENSP00000262160 SMAD2 467 Mothers against decapentaplegic homolog 2; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator 9606.ENSP00000262177 DNAJB6 326 DnaJ homolog subfamily B member 6; Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity; DNAJ heat shock proteins 9606.ENSP00000262178 VIPR2 438 Vasoactive intestinal polypeptide receptor 2; This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C 9606.ENSP00000262186 KCNH2 1159 Potassium voltage-gated channel subfamily H member 2; Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) 9606.ENSP00000262187 RHEB 184 GTP-binding protein Rheb; Activates the protein kinase activity of mTORC1, and thereby plays a role in the regulation of apoptosis. Stimulates the phosphorylation of S6K1 and EIF4EBP1 through activation of mTORC1 signaling. Has low intrinsic GTPase activity; RAS type GTPase family 9606.ENSP00000262188 SMARCD3 483 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Stimulates nuclear receptor mediated transcription. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron- spe [...] 9606.ENSP00000262189 KMT2C 4911 Histone-lysine N-methyltransferase 2C; Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder; Lysine methyltransferases 9606.ENSP00000262193 PSMB1 241 Proteasome subunit beta type-1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing prot [...] 9606.ENSP00000262198 ADNP2 1131 Activity-dependent neuroprotector homeobox protein 2; May be involved in transcriptional regulation; ZF class homeoboxes and pseudogenes 9606.ENSP00000262207 CRISPLD1 500 Cysteine rich secretory protein LCCL domain containing 1; Belongs to the CRISP family 9606.ENSP00000262209 TRPA1 1119 Transient receptor potential cation channel subfamily A member 1; Receptor-activated non-selective cation channel involved in detection of pain and possibly also in cold perception and inner ear function. Has a central role in the pain response to endogenous inflammatory mediators and to a diverse array of volatile irritants, such as mustard oil, cinnamaldehyde, garlic and acrolein, an irritant from tears gas and vehicule exhaust fumes. Is also activated by menthol (in vitro). Acts also as a ionotropic cannabinoid receptor by being activated by delta(9)-tetrahydrocannabinol (THC), the [...] 9606.ENSP00000262210 CSPP1 1221 Centrosome and spindle pole-associated protein 1; May play a role in cell-cycle-dependent microtubule organization 9606.ENSP00000262213 TRAM1 374 Translocating chain-associated membrane protein 1; Stimulatory or required for the translocation of secretory proteins across the ER membrane; TLC domain containing 9606.ENSP00000262215 ARFGEF1 1849 Brefeldin A-inhibited guanine nucleotide-exchange protein 1; Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and [...] 9606.ENSP00000262219 ANXA13 357 Annexin A13; Belongs to the annexin family 9606.ENSP00000262225 TMED2 201 Transmembrane emp24 domain-containing protein 2; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the [...] 9606.ENSP00000262231 RIMS2 1188 Regulating synaptic membrane exocytosis protein 2; Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes; PDZ domain containing 9606.ENSP00000262238 YY1 414 Transcriptional repressor protein YY1; Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activa [...] 9606.ENSP00000262241 RCOR1 485 REST corepressor 1; Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it serves as a molecular beacon for the recruitment of molecular machinery, including MeCP2 and SUV39H1, that imposes silencing across a chromosomal interval. Plays a central role in demethylation of Lys-4 of histone H3 by promoting demethylase a [...] 9606.ENSP00000262244 MOB3B 216 MOB kinase activator 3B; May regulate the activity of kinases; MOB kinase activators 9606.ENSP00000262259 ZNF175 711 Zinc finger protein 175; Down-regulates the expression of several chemokine receptors. Interferes with HIV-1 replication by suppressing Tat- induced viral LTR promoter activity; Zinc fingers C2H2-type 9606.ENSP00000262262 CD33 364 Myeloid cell surface antigen CD33; Putative adhesion molecule of myelomonocytic-derived cells that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Induces apoptosis in acute mye [...] 9606.ENSP00000262265 PIH1D1 290 PIH1 domain-containing protein 1; Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles. Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription. Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1. Positively regulates the assembly and activity of the mTORC1 complex; Belongs to the PIH1 family 9606.ENSP00000262283 ENSG00000253117 689 Otoconin-90; It is unlikely that this protein has phospholipase A2 activity 9606.ENSP00000262288 SCPEP1 452 Retinoid-inducible serine carboxypeptidase; May be involved in vascular wall and kidney homeostasis; M14 carboxypeptidases 9606.ENSP00000262290 LPO 712 Lactoperoxidase; Antimicrobial agent which utilizes hydrogen peroxide and thiocyanate (SCN) to generate the antimicrobial substance hypothiocyanous acid (HOSCN) (By similarity). May contribute to airway host defense against infection 9606.ENSP00000262291 VMP1 406 Vacuole membrane protein 1; Stress-induced protein that, when overexpressed, promotes formation of intracellular vacuoles followed by cell death. May be involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis. Plays a role in the initial stages of the autophagic process through its interaction with BECN1 (By similarity). Involved in cell-cell adhesion. Plays an essential role in formation of cell junctions 9606.ENSP00000262293 PRR11 360 Proline-rich protein 11; Plays a critical role in cell cycle progression 9606.ENSP00000262294 TRIM37 964 E3 ubiquitin-protein ligase TRIM37; E3 ubiquitin-protein ligase required to prevent centriole reduplication. Probably acts by ubiquitinating positive regulators of centriole reduplication. Mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes. Has anti-HIV activity; Belongs to the TRIM/RBCC family 9606.ENSP00000262300 PKMYT1 499 Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase; Acts as a negative regulator of entry into mitosis (G2 to M transition) by phosphorylation of the CDK1 kinase specifically when CDK1 is complexed to cyclins. Mediates phosphorylation of CDK1 predominantly on 'Thr-14'. Also involved in Golgi fragmentation. May be involved in phosphorylation of CDK1 on 'Tyr-15' to a lesser degree, however tyrosine kinase activity is unclear and may be indirect. May be a downstream target of Notch signaling pathway during eye development; Protein phosphatase 1 regulatory subunits 9606.ENSP00000262301 LMF1 567 Lipase maturation factor 1; Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule chaperones 50 or more molecules of LPL 9606.ENSP00000262302 NUBP2 271 Cytosolic Fe-S cluster assembly factor NUBP2; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Negatively regulates cilium formation and structure 9606.ENSP00000262304 PKD1 4303 Polycystin-1; Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear- mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be a [...] 9606.ENSP00000262305 RAB11FIP3 756 Rab11 family-interacting protein 3; Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. Also required for the structural integrity of the endosomal recycling compartment during interphase. May play a role in breast cancer cell motility by regulating actin cytoskeleton. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive [...] 9606.ENSP00000262306 TCEB2 161 Elongin-B; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important featur [...] 9606.ENSP00000262315 CHTF18 975 Chromosome transmission fidelity protein 18 homolog; Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single- stranded and primed DNAs and has weak ATPase activity that is stimulated by the presence of primed DNA, replication protein A (RPA) and by proliferating cell nuclear antigen (PCNA). The CTF18- RFC complex catalyzes the ATP-depe [...] 9606.ENSP00000262316 RHBDF1 855 Inactive rhomboid protein 1; Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration 9606.ENSP00000262319 TELO2 837 Telomere length regulation protein TEL2 homolog; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, wh [...] 9606.ENSP00000262320 AXIN1 862 Axin-1; Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling. Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt-independent JNK signaling pathway. In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B. Likely to function as a tumor suppressor. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin li [...] 9606.ENSP00000262340 RPE65 533 Retinoid isomerohydrolase; Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans- retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore. Essential for the production of 11-cis retinal for both rod and cone photoreceptors. Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid. The soluble form binds vitamin A (all-tr [...] 9606.ENSP00000262345 IL12RB2 862 Interleukin-12 receptor subunit beta-2; Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing IFN-gamma production; Fibronectin type III domain containing 9606.ENSP00000262352 SLC1A1 524 Excitatory amino acid transporter 3; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Can also transport L-cysteine. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Plays an important role in L-glutamate and L-aspartate reabsorptio [...] 9606.ENSP00000262365 FAM86B2 330 Putative protein N-methyltransferase FAM86B2; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000262366 GLIS2 524 Zinc finger protein GLIS2; Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors [...] 9606.ENSP00000262367 CREBBP 2442 CREB-binding protein; Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK- ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excisi [...] 9606.ENSP00000262370 MGRN1 576 E3 ubiquitin-protein ligase MGRN1; E3 ubiquitin-protein ligase. Mediates monoubiquitination at multiple sites of TSG101 in the presence of UBE2D1, but not of UBE2G1, nor UBE2H. Plays a role in the regulation of endosome-to- lysosome trafficking. Impairs MC1R- and MC4R-signaling by competing with GNAS-binding to MCRs and inhibiting agonist-induced cAMP production. Does not inhibit ADRB2-signaling. Does not promote MC1R ubiquitination; Ring finger proteins 9606.ENSP00000262374 ALG1 464 Chitobiosyldiphosphodolichol beta-mannosyltransferase; Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily 9606.ENSP00000262375 DNAJA3 480 DnaJ homolog subfamily A member 3, mitochondrial; Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma- mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway; DNAJ heat shock proteins 9606.ENSP00000262384 N4BP1 896 NEDD4-binding protein 1; Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH, leading to compete with ITCH's substrates and impairing ubiquitination of substrates (By similarity); Belongs to the N4BP1 family 9606.ENSP00000262394 WSB1 421 WD repeat and SOCS box-containing protein 1; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation; WD repeat domain containing 9606.ENSP00000262395 TRAF4 470 TNF receptor-associated factor 4; Adapter protein and signal transducer that links members of the tumor necrosis factor receptor (TNFR) family to different signaling pathways. Plays a role in the activation of NF-kappa-B and JNK, and in the regulation of cell survival and apoptosis. Regulates activation of NF-kappa-B in response to signaling through Toll-like receptors. Required for normal skeleton development, and for normal development of the respiratory tract (By similarity). Required for activation of RPS6KB1 in response to TNF signaling. Modulates TRAF6 functions 9606.ENSP00000262406 RGS9 674 Regulator of G-protein signaling 9; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(t)-alpha. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity); Regulators of G-protein signaling 9606.ENSP00000262407 ITGA2B 1039 Integrin alpha-IIb; Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha- IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface; CD molecules 9606.ENSP00000262415 DHX8 1220 ATP-dependent RNA helicase DHX8; Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome; Belongs to the DEAD box helicase family. DEAH subfamily. DDX8/PRP22 sub-subfamily 9606.ENSP00000262418 SLC4A1 911 Band 3 anion transport protein; Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate excha [...] 9606.ENSP00000262419 KANSL1 1105 KAT8 regulatory NSL complex subunit 1; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription 9606.ENSP00000262424 CRISPLD2 497 Cysteine-rich secretory protein LCCL domain-containing 2; Promotes matrix assembly; Belongs to the CRISP family 9606.ENSP00000262426 FOXF1 379 Forkhead box protein F1; Probable transcription activator for a number of lung- specific genes; Forkhead boxes 9606.ENSP00000262428 COTL1 142 Coactosin-like protein; Binds to F-actin in a calcium-independent manner. Has no direct effect on actin depolymerization. Acts as a chaperone for ALOX5 (5LO), influencing both its stability and activity in leukotrienes synthesis 9606.ENSP00000262430 MLYCD 493 Malonyl-CoA decarboxylase, mitochondrial; Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in mus [...] 9606.ENSP00000262432 METTL2B 378 Methyltransferase-like protein 2B; Probable S-adenosyl-L-methionine-dependent methyltransferase that mediates 3-methylcytidine modification of some tRNAs 9606.ENSP00000262435 SMURF2 748 E3 ubiquitin-protein ligase SMURF2; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Interacts with SMAD1 and SMAD7 in order to trigger their ubiquitination and proteasome-dependent degradation. In addition, interaction with SMAD7 activates autocatalytic degradation, which is prevented by interaction with SCYE1. Forms a stable complex with the TGF-beta receptor-mediated phosphorylated SMAD2 and SMAD3. In this way, SMAD2 may recruit substrates, such as [...] 9606.ENSP00000262441 GLP2R 553 Glucagon-like peptide 2 receptor; This is a receptor for glucagon-like peptide 2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase 9606.ENSP00000262442 DNAH9 4486 Dynein heavy chain 9, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP; Dyneins, axonemal 9606.ENSP00000262450 CHD5 1954 Chromodomain-helicase-DNA-binding protein 5; Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non- methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys- 27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor sup [...] 9606.ENSP00000262455 ERP44 406 Endoplasmic reticulum resident protein 44; Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum 9606.ENSP00000262457 INVS 1065 Inversin; Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be str [...] 9606.ENSP00000262460 GINS1 196 DNA replication complex GINS protein PSF1; The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single- stranded DNA. GINS1 is essential for function 9606.ENSP00000262461 SLC12A2 1212 Solute carrier family 12 member 2; Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume; Belongs to the SLC12A transporter family 9606.ENSP00000262462 SLC27A6 619 Long-chain fatty acid transport protein 6; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart; Acyl-CoA synthetase family 9606.ENSP00000262482 RNF167 350 E3 ubiquitin-protein ligase RNF167; May act as an E3 ubiquitin-protein ligase, or as part of the E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2E1, and then transfers it to substrates, such as SLC22A18. May play a role in growth regulation involved in G1/S transition; Ring finger proteins 9606.ENSP00000262483 PITPNM3 974 Membrane-associated phosphatidylinositol transfer protein 3; Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions; Atypical chemokine receptors 9606.ENSP00000262487 ISM1 464 Isthmin-1; Acts as an angiogenesis inhibitor; Belongs to the isthmin family 9606.ENSP00000262494 GNAO1 354 Guanine nucleotide-binding protein G(o) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14; Belongs to the G-alpha family. G(i/o/t/z) subfamily 9606.ENSP00000262498 CFAP20 193 Cilia- and flagella-associated protein 20; Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia. Required for axonemal microtubules polyglutamylation 9606.ENSP00000262506 CSNK2A2 350 Casein kinase II subunit alpha; Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoin [...] 9606.ENSP00000262507 COQ9 318 Ubiquinone biosynthesis protein COQ9, mitochondrial; Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7 9606.ENSP00000262510 NLRC5 1866 Protein NLRC5; Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral defense mechanisms; Belongs to the NLRP family 9606.ENSP00000262518 SRCAP 3230 Helicase SRCAP; Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription; Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily 9606.ENSP00000262519 SETD1A 1707 Histone-lysine N-methyltransferase SETD1A; Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys- 9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression; Lysine methyltransferases 9606.ENSP00000262525 ZNF629 869 Zinc finger protein 629; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000262545 PCSK2 638 Neuroendocrine convertase 2; Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells; Belongs to the peptidase S8 family. Furin subfamily 9606.ENSP00000262547 DZANK1 752 Double zinc ribbon and ankyrin repeat domains 1 9606.ENSP00000262551 OGN 298 Mimecan; Induces bone formation in conjunction with TGF-beta-1 or TGF-beta-2; Small leucine rich repeat proteoglycans 9606.ENSP00000262554 SPTLC1 473 Serine palmitoyltransferase 1; Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability t [...] 9606.ENSP00000262570 CHCHD3 227 MICOS complex subunit MIC19; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology; Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins 9606.ENSP00000262577 ZC3H3 948 Zinc finger CCCH domain-containing protein 3; Required for the export of polyadenylated mRNAs from the nucleus. Enhances ACVR1B-induced SMAD-dependent transcription. Binds to single-stranded DNA but not to double- stranded DNA in vitro. Involved in RNA cleavage (By similarity); Zinc fingers CCCH-type 9606.ENSP00000262584 RPL8 257 60S ribosomal protein L8; Component of the large ribosomal subunit 9606.ENSP00000262585 DENND3 1198 DENN domain-containing protein 3; Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form. Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the deg [...] 9606.ENSP00000262593 DOK5 306 Docking protein 5; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation 9606.ENSP00000262613 SLC9A3R1 358 Na(+)/H(+) exchange regulatory cofactor NHE-RF1; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of [...] 9606.ENSP00000262622 CHST8 424 Carbohydrate sulfotransferase 8; Catalyzes the transfer of sulfate to position 4 of non- reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin; Belongs to the sulfotransferase 2 family 9606.ENSP00000262623 ATP4A 1035 Potassium-transporting ATPase alpha chain 1; Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for acid production in the stomach; ATPase H+/K+ transporting 9606.ENSP00000262626 HPN 417 Serine protease hepsin; Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL. Plays a role in cell growth and maintenance of cell morphology. Plays a role in the proteolytic processing of ACE2. Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization; Belongs to the peptidase S1 family 9606.ENSP00000262629 TYROBP 113 TYRO protein tyrosine kinase-binding protein; Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin 9606.ENSP00000262633 RBM42 480 RNA-binding protein 42; Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA; RNA binding motif containing 9606.ENSP00000262640 VAMP7 260 Vesicle-associated membrane protein 7; Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocy [...] 9606.ENSP00000262643 CCNE1 410 G1/S-specific cyclin-E1; Essential for the control of the cell cycle at the G1/S (start) transition; Belongs to the cyclin family. Cyclin E subfamily 9606.ENSP00000262644 IMPAD1 359 Inositol monophosphatase 3; May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation 9606.ENSP00000262646 RAB2A 212 Ras-related protein Rab-2A; Required for protein transport from the endoplasmic reticulum to the Golgi complex; RAB, member RAS oncogene GTPases 9606.ENSP00000262648 KAL1 680 Anosmin-1; Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells 9606.ENSP00000262653 CBFA2T2 604 Protein CBFA2T2; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency. Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33- dependent manner. May function as a complex with the chimeric protein RUNX1/AML1 [...] 9606.ENSP00000262659 CCM2L 433 Cerebral cavernous malformations 2 protein-like; CCM2 like scaffolding protein 9606.ENSP00000262662 CDKN2C 168 Cyclin-dependent kinase 4 inhibitor C; Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family 9606.ENSP00000262710 ACIN1 1341 Apoptotic chromatin condensation inducer in the nucleus; Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP complexes which bind RNA in a sequence- independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate [...] 9606.ENSP00000262713 AJUBA 538 LIM domain-containing protein ajuba; Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell- cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus. Plays an import [...] 9606.ENSP00000262715 TEP1 2627 Telomerase protein component 1; Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini. Also component of the ribonucleoprotein vaults particle, a multi- subunit structure involved in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC (By similarity); WD repeat domain containing 9606.ENSP00000262717 CDH20 801 Cadherin-20; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000262719 PHLPP1 1717 PH domain leucine-rich repeat-containing protein phosphatase 1; Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660' of PRKCB and 'Ser-657' of PRKCA. Isoform 2 seems to have a major role in regulating Akt signaling in hippocampal neurons (By similarity). Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors [...] 9606.ENSP00000262726 EFCAB6 1501 EF-hand calcium-binding domain-containing protein 6; Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex; EF-hand domain containing 9606.ENSP00000262738 CELSR1 3014 Cadherin EGF LAG seven-pass G-type receptor 1; Receptor that may have an important role in cell/cell signaling during nervous system formation; Adhesion G protein-coupled receptors, subfamily C 9606.ENSP00000262741 PIK3R3 461 Phosphatidylinositol 3-kinase regulatory subunit gamma; Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1 9606.ENSP00000262746 PRDX1 199 Peroxiredoxin-1; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2). Reduces an intramolecular disulfide bond in GDPD5 that gates the ability to GDPD5 to drive postmitotic motor neuron differentiation (By s [...] 9606.ENSP00000262752 RPS6KA6 745 Ribosomal protein S6 kinase alpha-6; Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase activity and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role during embryogenesis; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily 9606.ENSP00000262753 POF1B 589 Protein POF1B; Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development 9606.ENSP00000262764 PGS1 556 CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial; Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin; Belongs to the CDP-alcohol phosphatidyltransferase class-II family 9606.ENSP00000262765 QRICH2 1663 Glutamine-rich protein 2; Glutamine rich 2 9606.ENSP00000262768 TIMP2 220 Metalloproteinase inhibitor 2; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8, MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19; Belongs to the protease inhibitor I35 (TIMP) family 9606.ENSP00000262776 LGALS3BP 585 Galectin-3-binding protein; Promotes integrin-mediated cell adhesion. May stimulate host defense against viruses and tumor cells; BTB domain containing 9606.ENSP00000262794 MOV10L1 1211 RNA helicase Mov10l1; ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are [...] 9606.ENSP00000262809 ELL 621 RNA polymerase II elongation factor ELL; Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription. ELL also plays an [...] 9606.ENSP00000262811 MAST3 1309 Microtubule associated serine/threonine kinase 3; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family 9606.ENSP00000262812 COPE 308 Coatomer subunit epsilon; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated with ADP- ribosylation factors (ARFs), which are small GTP-binding proteins; the complex [...] 9606.ENSP00000262815 MAU2 613 MAU2 chromatid cohesion factor homolog; Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister chromatid cohesion and normal progression through prometaphase 9606.ENSP00000262839 TRPC5 973 Short transient receptor potential channel 5; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Has also been shown to be calcium-selective (By similarity). May also be activated by intracellular calcium store depletion; Protein phosphatase 1 regulatory subunits 9606.ENSP00000262843 MID2 735 Probable E3 ubiquitin-protein ligase MID2; May play a role in microtubule stabilization; Belongs to the TRIM/RBCC family 9606.ENSP00000262844 AMMECR1 333 AMME syndrome candidate gene 1 protein; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 9606.ENSP00000262848 PRKX 358 cAMP-dependent protein kinase catalytic subunit PRKX; Serine/threonine protein kinase regulated by and mediating cAMP signaling in cells. Acts through phosphorylation of downstream targets that may include CREB, SMAD6 and PKD1 and has multiple functions in cellular differentiation and epithelial morphogenesis. Regulates myeloid cell differentiation through SMAD6 phosphorylation. Involved in nephrogenesis by stimulating renal epithelial cell migration and tubulogenesis. Also involved in angiogenesis through stimulation of endothelial cell proliferation, migration and vascular-like struc [...] 9606.ENSP00000262850 RRAGB 374 Ras-related GTP-binding protein B; Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway; Belongs to the GTR/RAG GTP-binding protein family 9606.ENSP00000262865 BPI 487 Bactericidal permeability-increasing protein; The cytotoxic action of BPI is limited to many species of Gram-negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. Has antibacterial activity against the Gram-nagative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family 9606.ENSP00000262866 SLA2 261 Src-like-adapter 2; Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins; SH2 domain containing 9606.ENSP00000262873 MYH7B 1983 Myosin-7B; Involved in muscle contraction; Myosin heavy chains 9606.ENSP00000262878 SAMHD1 626 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1; Host restriction nuclease involved in defense response to virus. Has dNTPase activity and reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur. Blocks early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. May play a role in mediating proinflammatory responses to TNF-alpha signaling. Has ribonuclease activity, acting on single-stranded RNA. This activity is essential for H1V-1 restriction; Sterile alpha motif domain containing 9606.ENSP00000262879 RALGAPB 1494 Ral GTPase-activating protein subunit beta; Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB; Armadillo-like helical domain containing 9606.ENSP00000262887 XRCC1 633 DNA repair protein XRCC1; Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity 9606.ENSP00000262888 KCNN4 427 Intermediate conductance calcium-activated potassium channel protein 4; Forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization which promotes calcium influx. Required for maximal calcium influx and proliferation during the reactivation of naive T-cells. The channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin; Belongs to the potassium channel KCNN family. KCa3.1/KCNN4 subfamily 9606.ENSP00000262891 MARK4 752 MAP/microtubule affinity-regulating kinase 4; Serine/threonine-protein kinase. Phosphorylates the microtubule-associated protein MAPT. Also phosphorylates the microtubule-associated proteins MAP2 and MAP4. Involved in regulation of the microtubule network, causing reorganization of microtubules into bundles. Required for the initiation of axoneme extension during cilium assembly. Regulates the centrosomal location of ODF2 and phosphorylates ODF2 in vitro. Plays a role in cell cycle progression, specifically in the G1/S checkpoint. Reduces neuronal cell survival. Plays a role in energy [...] 9606.ENSP00000262894 ZNF225 706 Zinc finger protein 225; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000262895 GRIK5 980 Glutamate receptor ionotropic, kainate 5; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds kainate > quisqualate > domoate > L- glutamate >> AMPA >> NMDA = 1S,3R-ACPD; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK5 subfamily 9606.ENSP00000262903 HACE1 909 E3 ubiquitin-protein ligase HACE1; E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defen [...] 9606.ENSP00000262904 E2F3 465 Transcription factor E2F3; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC- 3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F3 binds specifically to RB1 in a cell-cycle dependent manner. Inhibits adipogenesis, probably through the repression of CEBPA binding to its target gene promoters (By similarity) 9606.ENSP00000262915 ST3GAL3 444 ST3 beta-galactoside alpha-2,3-sialyltransferase 3; Sialyltransferases 9606.ENSP00000262916 KCNQ4 695 Potassium voltage-gated channel subfamily KQT member 4; Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors; Deafness associated genes 9606.ENSP00000262919 ATRN 1429 Attractin; Involved in the initial immune cell clustering during inflammatory response and may regulate chemotactic activity of chemokines. May play a role in melanocortin signaling pathways that regulate energy homeostasis and hair color. Low-affinity receptor for agouti (By similarity). Has a critical role in normal myelination in the central nervous system (By similarity); C-type lectin domain containing 9606.ENSP00000262932 CNPY4 248 Protein canopy homolog 4; Plays a role in the regulation of the cell surface expression of TLR4 9606.ENSP00000262940 RASA4 803 Ras GTPase-activating protein 4; Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis; C2 and RasGAP domain containing 9606.ENSP00000262942 ARPC1A 370 Actin-related protein 2/3 complex subunit 1A; Probably functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks; Belongs to the WD repeat ARPC1 family 9606.ENSP00000262947 C19orf10 173 Myeloid-derived growth factor; Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway (By similarity). Involved in endothelial cell proliferation and angiogenesis 9606.ENSP00000262948 MAP2K2 400 Dual specificity mitogen-activated protein kinase kinase 2; Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity) 9606.ENSP00000262958 GNA15 374 Guanine nucleotide-binding protein subunit alpha-15; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems; G protein subunits alpha, group q 9606.ENSP00000262960 DPP9 892 Dipeptidyl peptidase 9; Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2; Belongs to the peptidase S9B family. DPPIV subfamily 9606.ENSP00000262961 ZFR2 939 Zinc finger RNA binding protein 2 9606.ENSP00000262962 CCDC94 323 Coiled-coil domain containing 94 9606.ENSP00000262965 TCF3 654 Transcription factor E2-alpha; Transcriptional regulator. Involved in the initiation of neuronal differentiation. Heterodimers between TCF3 and tissue- specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Dimers bind DNA on E- box motifs: 5'-CANNTG-3'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region 9606.ENSP00000262971 PIAS4 510 E3 SUMO-protein ligase PIAS4; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway. Involved in gene silencing. Mediates sumoylation of CEBPA, PARK7, HERC2, MYB, TCF4 and RNF168. In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylati [...] 9606.ENSP00000262982 CSE1L 971 Exportin-2; Export receptor for importin-alpha. Mediates importin- alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause relea [...] 9606.ENSP00000262990 ZNF330 320 Zinc finger protein 330; Zinc fingers C2H2-type 9606.ENSP00000262995 GAB1 724 GRB2-associated-binding protein 1; Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR); Pleckstrin homology domain containing 9606.ENSP00000262999 UCP1 307 Mitochondrial brown fat uncoupling protein 1; Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane. However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in [...] 9606.ENSP00000263025 MAPK3 379 Mitogen-activated protein kinase 3; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] 9606.ENSP00000263026 EEF2K 725 Eukaryotic elongation factor 2 kinase; Threonine kinase that regulates protein synthesis by controlling the rate of peptide chain elongation. Upon activation by a variety of upstream kinases including AMPK or TRPM7, phosphorylates the elongation factor EEF2 at a single site, renders it unable to bind ribosomes and thus inactive. In turn, the rate of protein synthesis is reduced 9606.ENSP00000263035 DHTKD1 919 Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial; The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity) 9606.ENSP00000263038 PHYH 338 Phytanoyl-CoA dioxygenase, peroxisomal; Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA 9606.ENSP00000263054 SORCS1 1168 Sortilin related VPS10 domain containing receptor 1; Belongs to the VPS10-related sortilin family. SORCS subfamily 9606.ENSP00000263056 MAP3K8 467 Mitogen-activated protein kinase kinase kinase 8; Required for lipopolysaccharide (LPS)-induced, TLR4- mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the proinflammatory cytokine TNF- alpha (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to u [...] 9606.ENSP00000263062 EPC1 836 Enhancer of polycomb homolog 1; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replica [...] 9606.ENSP00000263063 MTPAP 582 Poly(A) RNA polymerase, mitochondrial; Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA 9606.ENSP00000263071 SCARF1 830 Scavenger receptor class F member 1; Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth (By similarity); Scavenger receptors 9606.ENSP00000263073 SMG6 1419 Telomerase-binding protein EST1A; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'- (GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) 9606.ENSP00000263080 ASPA 313 Aspartoacylase; Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids 9606.ENSP00000263083 DPH1 443 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity); Minor histocompatibility antigens 9606.ENSP00000263087 ITGAE 1179 Integrin alpha-E; Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers 9606.ENSP00000263088 PLD2 933 Phospholipase D2; May have a role in signal-induced cytoskeletal regulation and/or endocytosis; Phospholipases 9606.ENSP00000263092 METTL16 562 U6 small nuclear RNA (adenine-(43)-N(6))-methyltransferase; RNA N6-methyltransferase that methylates adenosine residues of a subset of RNAs and plays a key role in S-adenosyl-L- methionine homeostasis by regulating expression of MAT2A transcripts. Able to N6-methylate a subset of mRNAs and U6 small nuclear RNAs (U6 snRNAs). In contrast to the METTL3-METTL14 heterodimer, only able to methylate a limited number of RNAs: requires both a 5'UACAGAGAA-3' nonamer sequence and a specific RNA structure. In presence of S-adenosyl-L-methionine, binds the 3'-UTR region of MAT2A mRNA and specifical [...] 9606.ENSP00000263093 SLC27A5 690 Bile acyl-CoA synthetase; Acyl-CoA synthetase involved in bile acid metabolism. Proposed to catalyze the first step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi by activating them to their CoA thioesters. Seems to activate secondary bile acids entering the liver from the enterohepatic circulation. In vitro, also activates 3-alpha,7- alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol; Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000263094 ABCA7 2146 ATP-binding cassette sub-family A member 7; Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation; ATP binding cassette subfamily A 9606.ENSP00000263095 ZNF264 627 Zinc finger protein 264; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000263097 CNN2 309 Calponin-2; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity 9606.ENSP00000263100 A1BG 495 Alpha-1B-glycoprotein; Immunoglobulin like domain containing 9606.ENSP00000263102 CCDC6 474 Coiled-coil domain containing 6 9606.ENSP00000263116 RAB36 333 Ras-related protein Rab-36; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000263121 SMARCB1 385 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; Core component of the BAF (hSWI/SNF) complex. This ATP- dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric struct [...] 9606.ENSP00000263125 PRKCQ 706 Protein kinase C theta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that mediates non- redundant functions in T-cell receptor (TCR) signaling, including T-cells activation, proliferation, differentiation and survival, by mediating activation of multiple transcription factors such as NF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulated T-cells, is required for the activation of NF-kappa-B and JUN, which in turn are essential for IL2 production, and participates in the calcium-dependent NFATC1 and NFATC2 transact [...] 9606.ENSP00000263160 SLC17A6 582 Vesicular glutamate transporter 2; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily 9606.ENSP00000263168 CAPZA1 286 F-actin-capping protein subunit alpha-1; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions 9606.ENSP00000263174 PALMD 551 Palmdelphin 9606.ENSP00000263177 LPPR5 321 Phospholipid phosphatase-related protein type 5; Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory- mediated axonal retraction; Belongs to the PA-phosphatase related phosphoesterase family 9606.ENSP00000263181 KIF18A 898 Kinesin-like protein KIF18A; Microtubule-depolymerizing kinesin which plays a role in chromosome congression by reducing the amplitude of preanaphase oscillations and slowing poleward movement during anaphase, thus suppressing chromosome movements. May stabilize the CENPE-BUB1B complex at the kinetochores during early mitosis and maintains CENPE levels at kinetochores during chromosome congression; Kinesins 9606.ENSP00000263182 BBOX1 387 Gamma-butyrobetaine dioxygenase; Catalyzes the formation of L-carnitine from gamma- butyrobetaine; Belongs to the gamma-BBH/TMLD family 9606.ENSP00000263187 MSH4 936 MutS protein homolog 4; Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis; Belongs to the DNA mismatch repair MutS family 9606.ENSP00000263196 DGCR2 550 Integral membrane protein DGCR2/IDD; Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration; C-type lectin domain containing 9606.ENSP00000263202 UFD1L 307 Ubiquitin recognition factor in ER-associated degradation protein 1; Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derive [...] 9606.ENSP00000263205 MED15 788 Mediator of RNA polymerase II transcription subunit 15; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for cholesterol- [...] 9606.ENSP00000263207 ARVCF 962 Armadillo repeat protein deleted in velo-cardio-facial syndrome; Involved in protein-protein interactions at adherens junctions; Belongs to the beta-catenin family 9606.ENSP00000263208 HIRA 1017 Protein HIRA; Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit; WD repeat domain containing 9606.ENSP00000263209 DGCR8 773 Microprocessor complex subunit DGCR8; Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that [...] 9606.ENSP00000263212 PPM1F 454 Protein phosphatase 1F; Dephosphorylates and concomitantly deactivates CaM- kinase II activated upon autophosphorylation, and CaM-kinases IV and I activated upon phosphorylation by CaM-kinase kinase. Promotes apoptosis; Belongs to the PP2C family 9606.ENSP00000263228 UBE2R2 238 Ubiquitin-conjugating enzyme E2 R2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes monoubiquitination and 'Lys-48'-linked polyubiquitination. May be involved in degradation of katenin; Ubiquitin conjugating enzymes E2 9606.ENSP00000263233 SYP 313 Synaptophysin; Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity); Synaptophysins 9606.ENSP00000263238 ACTR3 418 Actin-related protein 3; Functions as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Seems to contact the pointed end of the daughter actin filament. Plays a role in ciliogenesis; Belongs to the actin family. ARP3 subfamily 9606.ENSP00000263239 DDX18 670 ATP-dependent RNA helicase DDX18; Probable RNA-dependent helicase; Belongs to the DEAD box helicase family. DDX18/HAS1 subfamily 9606.ENSP00000263245 ARFGAP3 516 ADP-ribosylation factor GTPase-activating protein 3; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes; ArfGAPs 9606.ENSP00000263246 PACSIN2 486 Protein kinase C and casein kinase substrate in neurons protein 2; Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle- mediated transport. Involved in the endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence of EGF stimulus. May also play a role in the formation of caveolae at the cell membrane. Recruits DNM2 to caveolae, and thereby plays a role in caveola-mediated endocytosis; Belongs to the PACSIN family 9606.ENSP00000263253 EP300 2414 Histone acetyltransferase p300; Functions as histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation. Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-27' (H3K [...] 9606.ENSP00000263256 DESI1 168 Desumoylating isopeptidase 1; Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity. Desumoylates ZBTB46 (By similarity); Belongs to the DeSI family 9606.ENSP00000263257 NOVA2 492 RNA-binding protein Nova-2; May regulate RNA splicing or metabolism in a specific subset of developing neurons (By similarity). Binds single strand RNA 9606.ENSP00000263265 PLEKHA4 779 Pleckstrin homology domain-containing family A member 4; Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides; Pleckstrin homology domain containing 9606.ENSP00000263266 FAM83E 478 Protein FAM83E; May play a role in MAPK signaling 9606.ENSP00000263269 GRIN2D 1336 Glutamate receptor ionotropic, NMDA 2D; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2D/GRIN2D subfamily 9606.ENSP00000263270 AP2S1 142 AP-2 complex subunit sigma; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold b [...] 9606.ENSP00000263274 LIG1 919 DNA ligase 1; DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair; Belongs to the ATP-dependent DNA ligase family 9606.ENSP00000263277 EHD2 543 EH domain-containing protein 2; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes. Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane; EF-hand domain containing 9606.ENSP00000263278 HSD17B14 270 17-beta-hydroxysteroid dehydrogenase 14; Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3- beta,17-beta-diol (in vitro); Short chain dehydrogenase/reductase superfamily 9606.ENSP00000263285 LY9 655 T-lymphocyte surface antigen Ly-9; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. May participate in adhesion reactions between T lymphocytes and accessory cells by homophil [...] 9606.ENSP00000263314 P2RX3 397 P2X purinoceptor 3; Receptor for ATP that acts as a ligand-gated ion channel; Purinergic receptors P2X 9606.ENSP00000263317 NOX4 578 NADPH oxidase 4; Constitutive NADPH oxidase which generates superoxide intracellularly upon formation of a complex with CYBA/p22phox. Regulates signaling cascades probably through phosphatases inhibition. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation. Isoform 3 is not functional. Isoform 5 and is [...] 9606.ENSP00000263321 TYR 529 Tyrosinase; This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4- dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6- dihydroxyindole) to indole-5,6 quinone; Belongs to the tyrosinase family 9606.ENSP00000263326 IL37 218 Interleukin-37; Suppressor of innate inflammatory and immune responses involved in curbing excessive inflammation. This function requires SMAD3. Suppresses, or reduces, proinflammatory cytokine production, including IL1A and IL6, as well as CCL12, CSF1, CSF2, CXCL13, IL1B, IL23A and IL1RN, but spares anti-inflammatory cytokines. Inhibits dendritic cell activation; Interleukins 9606.ENSP00000263334 PAX8 450 Paired box protein Pax-8; Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells; PRD class homeoboxes and pseudogenes 9606.ENSP00000263339 IL1A 271 Interleukin-1 alpha; Produced by activated macrophages, IL-1 stimulates thymocyte proliferation by inducing IL-2 release, B-cell maturation and proliferation, and fibroblast growth factor activity. IL-1 proteins are involved in the inflammatory response, being identified as endogenous pyrogens, and are reported to stimulate the release of prostaglandin and collagenase from synovial cells 9606.ENSP00000263341 IL1B 269 Interleukin-1 beta; Potent proinflammatory cytokine. Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B-cell activation and antibody production, and fibroblast proliferation and collagen production. Promotes Th17 differentiation of T-cells 9606.ENSP00000263346 TCF25 676 Transcription factor 25; May play a role in cell death control. Acts as a transcriptional repressor. Has been shown to repress transcription of SRF in vitro and so may play a role in heart development; Belongs to the TCF25 family 9606.ENSP00000263354 NAPA 295 Alpha-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus (Probable). Together with GNA12 promotes CDH5 localization to plasma membrane; Belongs to the SNAP family 9606.ENSP00000263360 EED 441 Polycomb protein EED; Polycomb group (PcG) protein. Component of the PRC2/EED- EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two ep [...] 9606.ENSP00000263368 BLVRB 206 Flavin reductase (NADPH); Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000263369 MIA 131 Melanoma-derived growth regulatory protein; Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas; Belongs to the MIA/OTOR family 9606.ENSP00000263370 ITPKC 683 Inositol-trisphosphate 3-kinase C; Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate; Belongs to the inositol phosphokinase (IPK) family 9606.ENSP00000263372 KCNK6 313 Potassium channel subfamily K member 6; Exhibits outward rectification in a physiological K(+) gradient and mild inward rectification in symmetrical K(+) conditions; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family 9606.ENSP00000263373 SPTBN4 2564 Spectrin beta chain, non-erythrocytic 4; Pleckstrin homology domain containing 9606.ENSP00000263377 BRD4 1362 Bromodomain-containing protein 4; Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation. Remains associated with acetylated chromatin throughout the entire cell cycle and provides epigenetic memory for postmitotic G1 gene transcription by preserving acetylated chromatin status and maintaining high-order chromatin structure. During interphase, plays a key role in regulating the transcription of signal-inducible genes by associating with the P- TEFb complex and re [...] 9606.ENSP00000263379 IL27RA 636 Interleukin-27 receptor subunit alpha; Receptor for IL27. Requires IL6ST/gp130 to mediate signal transduction in response to IL27. This signaling system acts through STAT3 and STAT1. Involved in the regulation of Th1- type immune responses. Also appears to be involved in innate defense mechanisms; Fibronectin type III domain containing 9606.ENSP00000263381 WIZ 794 Protein Wiz; May link EHMT1 and EHMT2 histone methyltransferases to the CTBP corepressor machinery. May be involved in EHMT1-EHMT2 heterodimer formation and stabilization (By similarity); Zinc fingers C2H2-type 9606.ENSP00000263382 ASF1B 202 Histone chaperone ASF1B; Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly. Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA. Required for spermatogenesis; Belongs to the ASF1 family 9606.ENSP00000263383 ILVBL 632 Acetolactate synthase-like protein; ilvB acetolactate synthase like 9606.ENSP00000263384 FAM32A 112 Protein FAM32A; Isoform 1, but not isoform 2 or isoform 3, may induce G2 arrest and apoptosis. May also increase cell sensitivity to apoptotic stimuli; Spliceosomal C complex 9606.ENSP00000263388 NOTCH3 2321 Neurogenic locus notch homolog protein 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity) 9606.ENSP00000263390 MED26 600 Mediator of RNA polymerase II transcription subunit 26; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000263401 COMMD9 198 COMM domain-containing protein 9; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B. Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits 9606.ENSP00000263408 C9 559 Complement component C9; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C9 is the pore- forming subunit of the MAC; Belongs to the complement C6/C7/C8/C9 family 9606.ENSP00000263409 LIFR 1097 Leukemia inhibitory factor receptor; Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells; Belongs to the type I cytokine receptor family. Type 2 subfamily 9606.ENSP00000263413 C6 934 Complement component C6; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells; Complement system 9606.ENSP00000263431 PRKCG 697 Protein kinase C gamma type; Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation of receptors and neuronal functions related to sensitivity to opiates, pain and alcohol, mediation of synaptic function and cell survival after ischemia, and inhibition of gap junction activity after oxidative stress. Binds and phosphorylates GRIA4/GLUR4 glutamate receptor and regulates its function by increasing pl [...] 9606.ENSP00000263433 PPP1R12C 782 Protein phosphatase 1 regulatory subunit 12C; Regulates myosin phosphatase activity; Ankyrin repeat domain containing 9606.ENSP00000263461 WDR11 1224 WD repeat-containing protein 11; WD repeat domain containing 9606.ENSP00000263464 BIRC3 604 Baculoviral IAP repeat-containing protein 3; Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin- protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins [...] 9606.ENSP00000263468 KIAA1377 1117 Centrosomal protein of 126 kDa; Participates in cytokinesis. Necessary for microtubules and mitotic spindle organization. Involved in primary cilium formation 9606.ENSP00000263512 SLC10A3 477 P3 protein; The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions; Solute carriers 9606.ENSP00000263519 ATP2B3 1220 Plasma membrane calcium-transporting ATPase 3; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting 9606.ENSP00000263549 PARP12 701 poly(ADP-ribose) polymerase family member 12 9606.ENSP00000263556 P4HA1 534 Prolyl 4-hydroxylase subunit alpha-1; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins; Belongs to the P4HA family 9606.ENSP00000263563 PALD1 856 Paladin; Phosphatase domain containing, paladin 1 9606.ENSP00000263574 APLP2 763 Amyloid-like protein 2; May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity) 9606.ENSP00000263576 DDX25 483 ATP-dependent RNA helicase DDX25; ATP-dependent RNA helicase. Required for mRNA export and translation regulation during spermatid development (By similarity); DEAD-box helicases 9606.ENSP00000263578 FOXRED1 486 FAD-dependent oxidoreductase domain-containing protein 1; Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). Involved in mid-late stages of complex I assembly 9606.ENSP00000263579 DCPS 337 m7GpppX diphosphatase; Decapping scavenger enzyme that catalyzes the cleavage of a residual cap structure following the degradation of mRNAs by the 3'->5' exosome-mediated mRNA decay pathway. Hydrolyzes cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG) with up to 10 nucleotide substrates (small capped oligoribonucleotides) and specifically releases 5'-phosphorylated RNA fragments and 7-methylguanosine monophosphate (m7GMP). Cleaves cap analog structures like tri-methyl guanosine nucleoside triphosphate (m3(2,2,7)GpppG) with very poor efficiency. Does not hy [...] 9606.ENSP00000263593 SIAE 523 Sialate O-acetylesterase; Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid 9606.ENSP00000263598 LCN1 176 Lipocalin-1; Could play a role in taste reception. Could be necessary for the concentration and delivery of sapid molecules in the gustatory system. Can bind various ligands, with chemical structures ranging from lipids and retinoids to the macrocyclic antibiotic rifampicin and even to microbial siderophores. Exhibits an extremely wide ligand pocket; Belongs to the calycin superfamily. Lipocalin family 9606.ENSP00000263610 BARHL1 327 BarH-like 1 homeobox protein; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000263620 ARID3A 593 AT-rich interactive domain-containing protein 3A; Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation; AT-rich interaction domain containing 9606.ENSP00000263629 MTIF2 727 Translation initiation factor IF-2, mitochondrial; One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. IF-2 subfamily 9606.ENSP00000263634 ENSG00000270898 518 GPR75-ASB3 readthrough; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000263635 TANC1 1861 Protein TANC1; May be a scaffold component in the postsynaptic density; Ankyrin repeat domain containing 9606.ENSP00000263636 LY75 1722 Lymphocyte antigen 75; Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen- processing compartment (By similarity). Causes reduced proliferation of B-lymphocytes; C-type lectin domain containing 9606.ENSP00000263640 ACVR1 509 Activin receptor type-1; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis (By similarity) 9606.ENSP00000263642 IFIH1 1025 Interferon-induced helicase C domain-containing protein 1; Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include mRNA lacking 2'-O- methylation at their 5' cap and long-dsRNA (>1 kb in length). Upon ligand binding it associates with mitochondria antiviral signaling protein (MAVS/IPS1) which activates the IKK-related kinases: TBK1 and IKBKE which phosphorylat [...] 9606.ENSP00000263645 CD81 236 CD81 antigen; May play an important role in the regulation of lymphoma cell growth. Interacts with a 16-kDa Leu-13 protein to form a complex possibly involved in signal transduction. May act as the viral receptor for HCV; CD molecules 9606.ENSP00000263650 OSBPL5 879 Oxysterol-binding protein-related protein 5; Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner. May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes. Binds 25-hydroxycholesterol and cholestero [...] 9606.ENSP00000263655 CNRIP1 164 CB1 cannabinoid receptor-interacting protein 1; Isoform 1 suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels. Isoform 2 does not have this effect 9606.ENSP00000263657 PNO1 252 RNA-binding protein PNO1; Positively regulates dimethylation of two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA 9606.ENSP00000263663 TAF1B 588 TATA box-binding protein-associated factor RNA polymerase I subunit B; Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3; Belongs to the RRN7/TAF1B family 9606.ENSP00000263665 CNTN3 1028 Contactin-3; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity); Belongs to the immunoglobulin superfamily. Contactin family 9606.ENSP00000263666 PDZRN3 1066 E3 ubiquitin-protein ligase PDZRN3; E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation; PDZ domain containing 9606.ENSP00000263671 CHRDL2 451 Chordin-related protein 2 variant III; Chordin like 2 9606.ENSP00000263672 SPCS2 226 Signal peptidase complex subunit 2; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum 9606.ENSP00000263674 ARHGEF17 2063 Rho guanine nucleotide exchange factor 17; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases 9606.ENSP00000263681 POLD3 466 DNA polymerase delta subunit 3; As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilizes the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA. Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol- delta3 shows higher proofreading activity than Pol-delta [...] 9606.ENSP00000263686 SELP 830 P-selectin; Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with PSGL1; Belongs to the selectin/LECAM family 9606.ENSP00000263694 SNRNP40 357 U5 small nuclear ribonucleoprotein 40 kDa protein; Component of the U5 small nuclear ribonucleoprotein (snRNP) complex. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs; Spliceosomal Bact complex 9606.ENSP00000263697 DNAJC8 253 DnaJ homolog subfamily C member 8; Suppresses polyglutamine (polyQ) aggregation of ATXN3 in neuronal cells; DNAJ heat shock proteins 9606.ENSP00000263702 MECR 373 Enoyl-[acyl-carrier-protein] reductase, mitochondrial; Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans- 2-hexadecenoyl-CoA (C16) 9606.ENSP00000263707 TFCP2L1 479 Transcription factor CP2-like protein 1; Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respectively (By similarit [...] 9606.ENSP00000263708 PTPN4 926 Tyrosine-protein phosphatase non-receptor type 4; May act at junctions between the membrane and the cytoskeleton; Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily 9606.ENSP00000263710 CLASP1 1538 CLIP-associating protein 1; Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at le [...] 9606.ENSP00000263713 EPB41L5 733 Band 4.1-like protein 5; May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells; FERM domain containing 9606.ENSP00000263726 LHX4 390 LIM/homeobox protein Lhx4; May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung; LIM class homeoboxes 9606.ENSP00000263733 FAM20B 409 Glycosaminoglycan xylosylkinase; Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG- protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1- O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalyt [...] 9606.ENSP00000263734 EPAS1 870 Endothelial PAS domain-containing protein 1; Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment of [...] 9606.ENSP00000263735 EPCAM 314 Epithelial cell adhesion molecule; May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E; CD molecules 9606.ENSP00000263736 SRBD1 995 S1 RNA-binding domain-containing protein 1; S1 RNA binding domain 1 9606.ENSP00000263753 SGOL1 561 Shugoshin 1; Plays a central role in chromosome cohesion during mitosis by preventing premature dissociation of cohesin complex from centromeres after prophase, when most of cohesin complex dissociates from chromosomes arms. May act by preventing phosphorylation of the STAG2 subunit of cohesin complex at the centromere, ensuring cohesin persistence at centromere until cohesin cleavage by ESPL1/separase at anaphase. Essential for proper chromosome segregation during mitosis and this function requires interaction with PPP2R1A. Its phosphorylated form is necessary for chromosome congressi [...] 9606.ENSP00000263754 KAT2B 832 Histone acetyltransferase KAT2B; Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Also acetylates non-histone proteins, such as ACLY. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Acts as a circadia [...] 9606.ENSP00000263773 FNBP4 1017 Formin binding protein 4 9606.ENSP00000263774 NDUFS3 264 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity); NADH:ubiquinone oxidoreductase core subunits 9606.ENSP00000263776 ACCS 501 1-aminocyclopropane-1-carboxylate synthase-like protein 1; Does not catalyze the synthesis of 1-aminocyclopropane- 1-carboxylate but is capable of catalyzing the deamination of L- vinylglycine 9606.ENSP00000263780 CHMP2B 213 Charged multivesicular body protein 2b; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] 9606.ENSP00000263791 EIF2AK4 1649 eIF-2-alpha kinase GCN2; Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' in response to low amino acid availability. Plays a role as an activator of the integrated stress response (ISR) required for adapatation to amino acid starvation. Converts phosphorylated eIF- 2-alpha/EIF2S1 either to a competitive inhibitor of the translation initiation factor eIF-2B, leading to a global protein synthesis repression, and thus to a reduced overall utilization of amino acids, or to a transla [...] 9606.ENSP00000263795 WDR76 626 WD repeat-containing protein 76; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC; WD repeat domain containing 9606.ENSP00000263798 TYRO3 890 Tyrosine-protein kinase receptor TYRO3; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including TULP1 or GAS6. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of TYRO3 on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with PIK3R1 and thereby enhances PI3-kinase activity. Activates the AKT survival [...] 9606.ENSP00000263800 LTK 864 Leukocyte tyrosine kinase receptor; Receptor with a tyrosine-protein kinase activity. The exact function of this protein is not known. Studies with chimeric proteins (replacing its extracellular region with that of several known growth factor receptors, such as EGFR and CSFIR) demonstrate its ability to promote growth and specifically neurite outgrowth, and cell survival. Signaling appears to involve the PI3 kinase pathway. Involved in regulation of the secretory pathway involving endoplasmic reticulum (ER) export sites (ERESs) and ER to Golgi transport 9606.ENSP00000263805 ZNF106 1883 Zinc finger protein 106; WD repeat domain containing 9606.ENSP00000263816 LRP2 4655 Low-density lipoprotein receptor-related protein 2; Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hyp [...] 9606.ENSP00000263817 ABCB11 1321 Bile salt export pump; Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes; Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily 9606.ENSP00000263826 AKT3 479 RAC-gamma serine/threonine-protein kinase; AKT3 is one of 3 closely related serine/threonine- protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial f [...] 9606.ENSP00000263847 OSBP 807 Oxysterol-binding protein 1; Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol. Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol c [...] 9606.ENSP00000263849 ZC2HC1A 325 Zinc finger C2HC-type containing 1A 9606.ENSP00000263851 IL7 177 Interleukin-7; Hematopoietic growth factor capable of stimulating the proliferation of lymphoid progenitors. It is important for proliferation during certain stages of B-cell maturation; Belongs to the IL-7/IL-9 family 9606.ENSP00000263857 POLR1A 1720 DNA-directed RNA polymerase I subunit RPA1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation o [...] 9606.ENSP00000263863 GNLY 145 Granulysin; Antimicrobial protein that kills intracellular pathogens. Active against a broad range of microbes, including Gram-positive and Gram-negative bacteria, fungi, and parasites. Kills Mycobacterium tuberculosis 9606.ENSP00000263864 VAMP8 100 Vesicle-associated membrane protein 8; SNAREs, soluble N-ethylmaleimide-sensitive factor- attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. VAMP8 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane via its interaction with the STX17-SNAP29 binary t-SNARE complex. Also required for dense-granule secretion in platelets. Plays als [...] 9606.ENSP00000263867 CAPG 348 Macrophage-capping protein; Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA; Gelsolin/villins 9606.ENSP00000263881 MAP4K3 894 Mitogen-activated protein kinase kinase kinase kinase 3; May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway; Mitogen-activated protein kinase kinase kinase kinases 9606.ENSP00000263897 USE1 259 Vesicle transport protein USE1; SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER; SNAREs 9606.ENSP00000263904 STAM2 525 Signal transducing adapter molecule 2; Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking process [...] 9606.ENSP00000263915 GRB14 540 Growth factor receptor-bound protein 14; Adapter protein which modulates coupling of cell surface receptor kinases with specific signaling pathways. Binds to, and suppresses signals from, the activated insulin receptor (INSR). Potent inhibitor of insulin-stimulated MAPK3 phosphorylation. Plays a critical role regulating PDPK1 membrane translocation in response to insulin stimulation and serves as an adapter protein to recruit PDPK1 to activated insulin receptor, thus promoting PKB/AKT1 phosphorylation and transduction of the insulin signal; Pleckstrin homology domain containing 9606.ENSP00000263918 STRN 780 Striatin; Calmodulin-binding protein which may function as scaffolding or signaling protein and may play a role in dendritic Ca(2+) signaling; Belongs to the WD repeat striatin family 9606.ENSP00000263921 CHIC2 165 Cysteine-rich hydrophobic domain-containing protein 2; Cysteine rich hydrophobic domain 2; Belongs to the CHIC family 9606.ENSP00000263923 KDR 1356 Vascular endothelial growth factor receptor 2; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative reg [...] 9606.ENSP00000263925 LNX1 728 E3 ubiquitin-protein ligase LNX; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65; PDZ domain containing 9606.ENSP00000263932 TNFRSF8 595 Tumor necrosis factor receptor superfamily member 8; Receptor for TNFSF8/CD30L. May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF- kappa-B 9606.ENSP00000263934 KIF1B 1770 Kinesin-like protein KIF1B; Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis; Kinesins 9606.ENSP00000263946 PKP1 747 Plakophilin-1; Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis; Armadillo repeat containing 9606.ENSP00000263955 STK17B 372 Serine/threonine-protein kinase 17B; Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. DAP kinase subfamily 9606.ENSP00000263956 GTF3C3 886 General transcription factor 3C polypeptide 3; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters; General transcription factors 9606.ENSP00000263960 COQ10B 238 Coenzyme Q-binding protein COQ10 homolog B, mitochondrial; Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (By similarity); Belongs to the COQ10 family 9606.ENSP00000263966 USP13 863 Ubiquitin carboxyl-terminal hydrolase 13; Deubiquitinase that mediates deubiquitination of target proteins such as BECN1, MITF, SKP2 and USP10 and is involved in various processes such as autophagy and endoplasmic reticulum- associated degradation (ERAD). Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. Also deubiquitinates USP10, an essential regulator of p53/TP53 stability. In turn, PIK3C3/VPS34- containing complexes regulate USP13 s [...] 9606.ENSP00000263967 PIK3CA 1068 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4- phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5- bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to [...] 9606.ENSP00000263974 TAF12 161 Transcription initiation factor TFIID subunit 12; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription; Belongs to the TAF12 family 9606.ENSP00000263980 SLC9A1 815 Sodium/hydrogen exchanger 1; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction; Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family 9606.ENSP00000263985 GATB 557 Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu- tRNA(Gln) 9606.ENSP00000263991 EHBP1 1231 EH domain-binding protein 1; May play a role in actin reorganization. Links clathrin- mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking. Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes (By similarity); NT-C2 domain containing 9606.ENSP00000263997 SLC7A6OS 309 Probable RNA polymerase II nuclear localization protein SLC7A6OS; Directs RNA polymerase II nuclear import 9606.ENSP00000264001 CKLF 152 Chemokine-like factor; May play an important role in inflammation and regeneration of skeletal muscle. Partly inhibited by interleukin 10 9606.ENSP00000264005 LCAT 440 Phosphatidylcholine-sterol acyltransferase; Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE- [...] 9606.ENSP00000264009 HSF4 492 Heat shock factor protein 4; DNA-binding protein that specifically binds heat shock promoter elements (HSE). Isoform HSF4A represses transcription while the isoform HSF4B activates transcription 9606.ENSP00000264010 CTCF 727 Transcriptional repressor CTCF; Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by ac [...] 9606.ENSP00000264012 CDH3 829 Cadherin-3; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000264020 IFT46 355 Intraflagellar transport proteins; Cilia and flagella associated 9606.ENSP00000264025 PVRL1 517 Nectin-1; Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity; Belongs to the nectin family 9606.ENSP00000264027 SC5D 299 Lathosterol oxidase; Catalyzes a dehydrogenation to introduce C5-6 double bond into lathosterol; Belongs to the sterol desaturase family 9606.ENSP00000264028 ARCN1 511 Coatomer subunit delta; Component of the coatomer, a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. The coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the co [...] 9606.ENSP00000264029 TREH 583 Trehalase; Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose; Belongs to the glycosyl hydrolase 37 family 9606.ENSP00000264031 UPK2 184 Uroplakin-2; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in regulating the assembly of the AUM (By similarity) 9606.ENSP00000264033 CBL 906 E3 ubiquitin-protein ligase CBL; Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family [...] 9606.ENSP00000264036 MCAM 646 Cell surface glycoprotein MUC18; Plays a role in cell adhesion, and in cohesion of the endothelial monolayer at intercellular junctions in vascular tissue. Its expression may allow melanoma cells to interact with cellular elements of the vascular system, thereby enhancing hematogeneous tumor spread. Could be an adhesion molecule active in neural crest cells during embryonic development. Acts as surface receptor that triggers tyrosine phosphorylation of FYN and PTK2/FAK1, and a transient increase in the intracellular calcium concentration; C2-set domain containing 9606.ENSP00000264039 GPC1 558 Glypican-1; Cell surface proteoglycan that bears heparan sulfate. Binds, via the heparan sulfate side chains, alpha-4 (V) collagen and participates in Schwann cell myelination (By similarity). May act as a catalyst in increasing the rate of conversion of prion protein PRPN(C) to PRNP(Sc) via associating (via the heparan sulfate side chains) with both forms of PRPN, targeting them to lipid rafts and facilitating their interaction. Required for proper skeletal muscle differentiation by sequestering FGF2 in lipid rafts preventing its binding to receptors (FGFRs) and inhibiting the FGF-med [...] 9606.ENSP00000264042 FARP2 1054 FERM, ARHGEF and pleckstrin domain-containing protein 2; Functions as guanine nucleotide exchange factor that activates RAC1. May have relatively low activity. Plays a role in the response to class 3 semaphorins and remodeling of the actin cytoskeleton. Plays a role in TNFSF11-mediated osteoclast differentiation, especially in podosome rearrangement and reorganization of the actin cytoskeleton. Regulates the activation of ITGB3, integrin signaling and cell adhesion (By similarity); FERM domain containing 9606.ENSP00000264047 SLC5A7 580 High affinity choline transporter 1; Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family 9606.ENSP00000264051 NGEF 710 Ephexin-1; Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity) 9606.ENSP00000264057 DGKD 1214 Diacylglycerol kinase delta; May function as signaling molecule; Diacylglycerol kinases 9606.ENSP00000264059 EFHD1 239 EF-hand domain-containing protein D1; Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production. May play a role in neuronal differentiation (By similarity); EF-hand domain containing 9606.ENSP00000264065 DNAJC10 793 DnaJ homolog subfamily C member 10; Endoplasmic reticulum disulfide reductase involved both in the correct folding of proteins and degradation of misfolded proteins. Required for efficient folding of proteins in the endoplasmic reticulum by catalyzing the removal of non-native disulfide bonds formed during the folding of proteins, such as LDLR. Also involved in endoplasmic reticulum-associated degradation (ERAD) by reducing incorrect disulfide bonds in misfolded glycoproteins recognized by EDEM1. Interaction with HSPA5 is required its activity, not for the disulfide reductase activity, [...] 9606.ENSP00000264071 TUBB4A 444 Tubulin beta-4A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Tubulins 9606.ENSP00000264072 FCER2 321 Low affinity immunoglobulin epsilon Fc receptor; Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B-cells (it is a B-cell-specific antigen); C-type lectin domain containing 9606.ENSP00000264079 MCOLN1 580 Mucolipin-1; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy. Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By simil [...] 9606.ENSP00000264080 GPR108 543 G protein-coupled receptor 108; 7TM orphan receptors 9606.ENSP00000264093 DGUOK 277 Deoxyguanosine kinase, mitochondrial; Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents 9606.ENSP00000264094 LOXL3 753 Lysyl oxidase homolog 3; Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins. Catalyzes the post- translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin. Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory [...] 9606.ENSP00000264108 HAT1 419 Histone acetyltransferase type B catalytic subunit; Acetylates soluble but not nucleosomal histone H4 at 'Lys-5' (H4K5ac) and 'Lys-12' (H4K12ac) and, to a lesser extent, acetylates histone H2A at 'Lys-5' (H2AK5ac). Has intrinsic substrate specificity that modifies lysine in recognition sequence GXGKXG. May be involved in nucleosome assembly during DNA replication and repair as part of the histone H3.1 and H3.3 complexes. May play a role in DNA repair in response to free radical damage; Belongs to the HAT1 family 9606.ENSP00000264110 ATF2 505 Cyclic AMP-dependent transcription factor ATF-2; Transcriptional activator which regulates the transcription of various genes, including those involved in anti- apoptosis, cell growth, and DNA damage response. Dependent on its binding partner, binds to CRE (cAMP response element) consensus sequences (5'-TGACGTCA-3') or to AP-1 (activator protein 1) consensus sequences (5'-TGACTCA-3'). In the nucleus, contributes to global transcription and the DNA damage response, in addition to specific transcriptional activities that are related to cell development, proliferation and death. In the cy [...] 9606.ENSP00000264122 CBLB 982 E3 ubiquitin-protein ligase CBL-B; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B- cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impair [...] 9606.ENSP00000264144 LAMC2 1193 Laminin subunit gamma-2; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell- scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells 9606.ENSP00000264151 OSGEPL1 414 Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial; Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance 9606.ENSP00000264156 MCM6 821 DNA replication licensing factor MCM6; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] 9606.ENSP00000264157 CCNT2 730 Cyclin-T2; Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin T) complex, also called positive transcription elongation factor B (P-TEFB), which is proposed to facilitate the transition from abortive to production elongation by phosphorylating the CTD (carboxy-terminal domain) of the large subunit of RNA polymerase II (RNAP II). The activity of this complex is regulated by binding with 7SK snRNA. Plays a role during muscle differentiation; P-TEFB complex interacts with MYOD1; this tripartite complex promotes the transcriptional activity of MYOD1 through its CDK9-mediat [...] 9606.ENSP00000264159 ZRANB3 1079 DNA annealing helicase and endonuclease ZRANB3; DNA annealing helicase and endonuclease required to maintain genome stability at stalled or collapsed replication forks by facilitating fork restart and limiting inappropriate recombination that could occur during template switching events. Recruited to the sites of stalled DNA replication by polyubiquitinated PCNA and acts as a structure-specific endonuclease that cleaves the replication fork D-loop intermediate, generating an accessible 3'-OH group in the template of the leading strand, which is amenable to extension by DNA polymerase. [...] 9606.ENSP00000264161 DARS 501 Aspartate--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA; Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily 9606.ENSP00000264162 LCT 1927 Lactase-phlorizin hydrolase; LPH splits lactose in the small intestine 9606.ENSP00000264167 AGPS 658 Alkyldihydroxyacetonephosphate synthase, peroxisomal; Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids; Belongs to the FAD-binding oxidoreductase/transferase type 4 family 9606.ENSP00000264170 KYNU 465 Kynureninase; Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3- hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3- hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity 9606.ENSP00000264183 ARID4B 1312 AT-rich interactive domain-containing protein 4B; Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes; AT-rich interaction domain containing 9606.ENSP00000264187 NID1 1247 Nidogen-1; Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell- extracellular matrix interactions 9606.ENSP00000264192 CYTIP 359 Cytohesin-interacting protein; By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm; PDZ domain containing 9606.ENSP00000264193 CPOX 454 Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial; Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX 9606.ENSP00000264198 MUL1 352 Mitochondrial ubiquitin ligase activator of NFKB 1; Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation. Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the con [...] 9606.ENSP00000264218 NMU 174 Neuromedin-U; Stimulates muscle contractions of specific regions of the gastrointestinal tract. In humans, NmU stimulates contractions of the ileum and urinary bladder; Belongs to the NmU family 9606.ENSP00000264220 PPAT 517 Amidophosphoribosyltransferase; Phosphoribosyl pyrophosphate amidotransferase; In the C-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family 9606.ENSP00000264228 SRD5A3 318 Polyprenol reductase; Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT) 9606.ENSP00000264230 NOA1 698 Nitric oxide-associated protein 1; Involved in regulation of mitochondrial protein translation and respiration. Plays a role in mitochondria-mediated cell death. May act as a scaffolding protein or stabilizer of respiratory chain supercomplexes. Binds GTP; Belongs to the TRAFAC class YlqF/YawG GTPase family. NOA1 subfamily 9606.ENSP00000264231 POPDC2 364 Popeye domain-containing protein 2; Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density; Belongs to the popeye family 9606.ENSP00000264233 POLQ 2590 DNA polymerase theta; DNA polymerase that promotes microhomology-mediated end- joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery triggered in response to double-strand breaks in DNA. MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation. POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends. POLQ-mediated MMEJ may be required to promote [...] 9606.ENSP00000264234 UPK1B 260 Uroplakin-1b; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity); Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000264245 ARHGAP31 1444 Rho GTPase-activating protein 31; Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration 9606.ENSP00000264246 CD80 288 T-lymphocyte activation antigen CD80; Involved in the costimulatory signal essential for T- lymphocyte activation. T-cell proliferation and cytokine production is induced by the binding of CD28, binding to CTLA-4 has opposite effects and inhibits T-cell activation; C2-set domain containing 9606.ENSP00000264249 CHST10 356 Carbohydrate sulfotransferase 10; Catalyzes the transfer of sulfate to position 3 of terminal glucuronic acid of both protein- and lipid-linked oligosaccharides. Participates in biosynthesis of HNK-1 carbohydrate structure, a sulfated glucuronyl-lactosaminyl residue carried by many neural recognition molecules, which is involved in cell interactions during ontogenetic development and in synaptic plasticity in the adult. May be indirectly involved in synapse plasticity of the hippocampus, via its role in HNK-1 biosynthesis; Sulfotransferases, membrane bound 9606.ENSP00000264254 PDCL3 239 Phosducin-like protein 3; Acts as a chaperone for the angiogenic VEGF receptor KDR/VEGFR2, controlling its abundance and inhibiting its ubiquitination and degradation. Modulates the activation of caspases during apoptosis. Is a substrate for Orgyia pseudotsugata multicapsid polyhedrosis virus (OpMNPV) IAP-mediated ubiquitination; Belongs to the phosducin family 9606.ENSP00000264255 TXNDC9 226 Thioredoxin domain-containing protein 9; Significantly diminishes the chaperonin TCP1 complex ATPase activity, thus negatively impacts protein folding, including that of actin or tubulin 9606.ENSP00000264257 IL1RL2 575 Interleukin-1 receptor-like 2; Receptor for interleukin-36 (IL36A, IL36B and IL36G). After binding to interleukin-36 associates with the coreceptor IL1RAP to form the interleukin-36 receptor complex which mediates interleukin-36-dependent activation of NF-kappa-B, MAPK and other pathways (By similarity). The IL-36 signaling system is thought to be present in epithelial barriers and to take part in local inflammatory response; it is similar to the IL-1 system. Seems to be involved in skin inflammatory response by induction of the IL- 23/IL-17/IL-22 pathway; Immunoglobulin like domain co [...] 9606.ENSP00000264260 IL18RAP 599 Interleukin-18 receptor accessory protein; Within the IL18 receptor complex, does not mediate IL18- binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation 9606.ENSP00000264265 LXN 222 Latexin; Hardly reversible, non-competitive, and potent inhibitor of CPA1, CPA2 and CPA4. May play a role in inflammation; Belongs to the protease inhibitor I47 (latexin) family 9606.ENSP00000264276 ALS2 1657 Alsin; May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity); Rho guanine nucleotide exchange factors 9606.ENSP00000264279 NOP58 529 Nucleolar protein 58; Required for 60S ribosomal subunit biogenesis (By similarity). Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such as U3, U8 and U14 snoRNAs; Belongs to the NOP5/NOP56 family 9606.ENSP00000264313 SLAIN2 581 SLAIN motif-containing protein 2; Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase 9606.ENSP00000264316 TXK 527 Tyrosine-protein kinase TXK; Non-receptor tyrosine kinase that plays a redundant role with ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T- cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of TXK to the cell membrane, where it is phosphorylated at Tyr-420. Phosphorylation leads to TXK full activation. Contributes also to signaling from many receptors and participates in multiple downstream pathways, incl [...] 9606.ENSP00000264318 GABRA4 554 Gamma-aminobutyric acid receptor subunit alpha-4; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA4 sub-subfamily 9606.ENSP00000264335 YWHAE 255 14-3-3 protein epsilon; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm; Belongs to the 14-3-3 family 9606.ENSP00000264344 FAM13A 1023 Protein FAM13A; Family with sequence similarity 13 member A; Belongs to the FAM13 family 9606.ENSP00000264346 HERC6 1022 Probable E3 ubiquitin-protein ligase HERC6; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 9606.ENSP00000264350 HERC5 1024 E3 ISG15--protein ligase HERC5; Major E3 ligase for ISG15 conjugation. Acts as a positive regulator of innate antiviral response in cells induced by interferon. Functions as part of the ISGylation machinery that recognizes target proteins in a broad and relatively non-specific manner. Catalyzes ISGylation of IRF3 which results in sustained activation, it attenuates IRF3-PIN1 interaction, which antagonizes IRF3 ubiquitination and degradation, and boosts the antiviral response. Catalyzes ISGylation of influenza A viral NS1 which attenuates virulence; ISGylated NS1 fails to form homodimer [...] 9606.ENSP00000264360 PCDH10 1040 Protocadherin-10; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000264363 NDST4 872 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has low deacetylase activity but high sulfotransferase activity (By similarity); Belongs to the sulfotransferase 1 family. NDST subfamily 9606.ENSP00000264376 CRYGD 174 Gamma-crystallin D; Crystallins are the dominant structural components of the vertebrate eye lens 9606.ENSP00000264377 ADAM23 832 Disintegrin and metalloproteinase domain-containing protein 23; May play a role in cell-cell and cell-matrix interactions. This is a non-catalytic metalloprotease-like protein; ADAM metallopeptidase domain containing 9606.ENSP00000264380 PIKFYVE 2098 1-phosphatidylinositol 3-phosphate 5-kinase; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo- inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes; Zinc fingers FYVE-type 9606.ENSP00000264381 BCHE 602 Cholinesterase; Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters; Belongs to the type-B carboxylesterase/lipase family 9606.ENSP00000264382 SI 1827 Sucrase-isomaltase, intestinal; Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides; Belongs to the glycosyl hydrolase 31 family 9606.ENSP00000264387 C2orf83 150 Folate transporter-like protein C2orf83; Chromosome 2 open reading frame 83 9606.ENSP00000264389 COPS4 406 COP9 signalosome complex subunit 4; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. Also involved in the deneddylation of non-cullin subunits such as STON2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1, IR [...] 9606.ENSP00000264399 PRKG2 762 cGMP-dependent protein kinase 2; Crucial regulator of intestinal secretion and bone growth (By similarity). Phosphorylates and activates CFTR on the plasma membrane. Plays a key role in intestinal secretion by regulating cGMP-dependent translocation of CFTR in jejunum (By similarity). Acts downstream of NMDAR to activate the plasma membrane accumulation of GRIA1/GLUR1 in synapse and increase synaptic plasticity. Phosphorylates GRIA1/GLUR1 at Ser-863 (By similarity). Acts as regulator of gene expression and activator of the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK [...] 9606.ENSP00000264400 RASGEF1B 473 Ras-GEF domain-containing family member 1B; Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro) 9606.ENSP00000264414 CUL3 768 Cullin-3; Core component of multiple cullin-RING-based BCR (BTB- CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin- protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cu [...] 9606.ENSP00000264424 GUCY1B3 619 Guanylate cyclase soluble subunit beta-1; Mediates responses to nitric oxide (NO) by catalyzing the biosynthesis of the signaling molecule cGMP; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family 9606.ENSP00000264428 GLRB 497 Glycine receptor subunit beta; Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1. Plays an important role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents 9606.ENSP00000264431 RAPGEF2 1499 Rap guanine nucleotide exchange factor 2; Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in intracellular signaling cascades. Acts also as an effector for Rap1 by direct association with Rap1-GTP thereby leading to the amplification of Rap1-mediated signaling. Shows weak activity on HRAS. It is controversial whether RAPGEF2 binds cAMP and cGMP or not. Its binding to ligand-activated beta-1 adre [...] 9606.ENSP00000264433 FNIP2 1114 Folliculin-interacting protein 2; Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. May play a role in the signal transduction pathway of apoptosis induced by O6-methylguanine- mispaired lesions (By similarity). May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1; DENN/MADD domain containing 9606.ENSP00000264434 C2orf42 574 Uncharacterized protein C2orf42; Chromosome 2 open reading frame 42 9606.ENSP00000264436 ADD2 726 Beta-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit; Belongs to the aldolase class II family. Adducin subfamily 9606.ENSP00000264444 MXD1 221 Max dimerization protein 1; Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by competing for MAX; Basic helix-loop-helix proteins 9606.ENSP00000264451 SLC30A9 568 Zinc transporter 9; Acts as a zinc transporter involved in intracellular zinc homeostasis. Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity); Solute carriers 9606.ENSP00000264454 SEC22C 303 Vesicle-trafficking protein SEC22c; May be involved in vesicle transport between the ER and the Golgi complex; SNAREs 9606.ENSP00000264463 CDH10 788 Cadherin-10; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000264474 CSTA 98 Cystatin-A; This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis; Belongs to the cystatin family 9606.ENSP00000264497 IL21 162 Interleukin-21; Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells. During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation; Interleukins 9606.ENSP00000264498 FGF2 288 Fibroblast growth factor 2; Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Can induce angiogenesis; Belongs to the heparin-binding growth factors family 9606.ENSP00000264499 BBS7 715 Bardet-Biedl syndrome 7 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] 9606.ENSP00000264501 KIAA1109 5005 Uncharacterized protein KIAA1109; KIAA1109 9606.ENSP00000264515 RBBP5 538 Retinoblastoma-binding protein 5; In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation; WD repeat domain containing 9606.ENSP00000264538 IFT57 429 Intraflagellar transport protein 57 homolog; Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro- apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear; Belongs to the [...] 9606.ENSP00000264552 UBE2S 222 Ubiquitin-conjugating enzyme E2 S; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes 'Lys-11'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle- regulated ubiquitin ligase that controls progression through mitosis. Acts by specifically elongating 'Lys-11'-linked polyubiquitin chains initiated by the E2 enzyme UBE2C/UBCH10 on APC/C substrates, enhancing the degradation of APC/C substrates by the proteasome and promoting mitotic exit. Also acts by elongating ubiqu [...] 9606.ENSP00000264553 GZMM 257 Granzyme M; Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha- tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells 9606.ENSP00000264554 SHC2 582 SHC-transforming protein 2; Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons (By similarity); SH2 domain containing 9606.ENSP00000264555 PHRF1 1649 PHD and RING finger domain-containing protein 1; Protein phosphatase 1 regulatory subunits; PHD finger proteins 9606.ENSP00000264563 IL11 199 Interleukin-11; Cytokine that stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production. Also promotes the proliferation of hepatocytes in response to liver damage. Binding to its receptor formed by IL6ST and either IL11RA1 or IL11RA2 activates a signaling cascade that promotes cell proliferation. Signaling leads to the activation of intracellular protein kinases and the phosphorylation of STAT3; Belongs to the IL-6 superfamily 9606.ENSP00000264595 AGA 346 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins; Belongs to the Ntn-hydrolase family 9606.ENSP00000264596 NEIL3 605 Endonuclease 8-like 3; DNA glycosylase which prefers single-stranded DNA (ssDNA), or partially ssDNA structures such as bubble and fork structures, to double-stranded DNA (dsDNA). In vitro, displays strong glycosylase activity towards the hydantoin lesions spiroiminodihydantoin (Sp) and guanidinohydantoin (Gh) in both ssDNA and dsDNA; also recognizes FapyA, FapyG, 5-OHU, 5-OHC, 5- OHMH, Tg and 8-oxoA lesions in ssDNA. No activity on 8-oxoG detected. Also shows weak DNA-(apurinic or apyrimidinic site) lyase activity. In vivo, appears to be the primary enzyme involved in removing Sp and [...] 9606.ENSP00000264601 RAB17 212 Ras-related protein Rab-17; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in transcytosis, the directed movement of endocytosed material through the cell and its exocytosis from the plasma membrane at the opposite side. Mainly observed in [...] 9606.ENSP00000264605 MLPH 600 Melanophilin; Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A 9606.ENSP00000264606 HDAC4 1084 Histone deacetylase 4; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. [...] 9606.ENSP00000264607 ASB1 335 Ankyrin repeat and SOCS box protein 1; May play a role in testis development (By similarity). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000264613 CP 1065 Ceruloplasmin; Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense (By similarity) 9606.ENSP00000264634 WNT5A 380 Protein Wnt-5a; Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression. Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferatio [...] 9606.ENSP00000264637 THRA 490 Thyroid hormone receptor alpha; Isoform Alpha-1: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine; Belongs to the nuclear hormone receptor family. NR1 subfamily 9606.ENSP00000264638 CNTNAP1 1384 Contactin-associated protein 1; Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells 9606.ENSP00000264639 PSMD3 534 26S proteasome non-ATPase regulatory subunit 3; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S3 family 9606.ENSP00000264644 RAPGEFL1 456 Rap guanine nucleotide exchange factor-like 1; Probable guanine nucleotide exchange factor (GEF) 9606.ENSP00000264645 CASC3 703 Protein CASC3; Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downs [...] 9606.ENSP00000264649 ATP6V0A1 838 V-type proton ATPase 116 kDa subunit a isoform 1; Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity); V-type ATPases 9606.ENSP00000264651 KRT24 525 Keratin, type I cytoskeletal 24; Keratins, type I 9606.ENSP00000264657 STAT3 770 Signal transducer and activator of transcription 3; Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors. Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the interleukin-6 (IL-6)-responsive elements identified in the promoters of various acute-phase protein genes. Activated by IL31 through IL31RA. Acts as a regulator of inflammatory response by regulating differenti [...] 9606.ENSP00000264658 FBXL20 436 F-box/LRR-repeat protein 20; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Role in neural transmission (By similarity); F-box and leucine rich repeat proteins 9606.ENSP00000264661 KCNH4 1017 Potassium voltage-gated channel subfamily H member 4; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly 9606.ENSP00000264663 NNT 1086 NAD(P) transhydrogenase, mitochondrial; The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland; In the N-terminal section; belongs to the AlaDH/PNT family 9606.ENSP00000264664 FGF10 208 Fibroblast growth factor 10; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing; Belongs to the heparin-binding growth factors family 9606.ENSP00000264668 MTRR 725 Methionine synthase reductase; Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects 9606.ENSP00000264669 FASTKD3 662 FAST kinase domain-containing protein 3, mitochondrial; Required for normal mitochondrial respiration; Belongs to the FAST kinase family 9606.ENSP00000264670 NSUN2 767 tRNA (cytosine(34)-C(5))-methyltransferase; RNA methyltransferase that methylates tRNAs, and possibly RNA polymerase III transcripts. Methylates cytosine to 5- methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors. May act downstream of Myc to regulate epidermal cell growth and proliferation. Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity 9606.ENSP00000264674 MECOM 1116 MDS1 and EVI1 complex locus protein EVI1; Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis; Lysine methyltransferases 9606.ENSP00000264689 UFSP2 469 Ufm1-specific protease 2; Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation; Belongs to the peptidase C78 family 9606.ENSP00000264690 KLKB1 638 Plasma kallikrein; The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin; Belongs to the peptidase S1 family. Plasma kallikrein subfamily 9606.ENSP00000264703 FNDC4 234 Fibronectin type III domain-containing protein 4; Acts as an anti-inflammatory factor in the intestine and colon. Binds to and acts on macrophages to downregulate pro- inflammatory gene expression. Affects key macrophage functions, including phagocytosis, by downregulating many key pathways for macrophage activation, partly via by STAT3 activation and signaling. May be required to dampen the immunological response in colitis; Fibronectin type III domain containing 9606.ENSP00000264705 CAD 2225 CAD protein; This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase); In the central section; belongs to the metallo- dependent hydrolases superfamily. DHOase family. CAD subfamily 9606.ENSP00000264709 DNMT3A 912 DNA (cytosine-5)-methyltransferase 3A; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimet [...] 9606.ENSP00000264710 RAB10 200 Ras-related protein Rab-10; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane. Regulates, for instance, SLC2A4/GLUT4 glucose transporter-en [...] 9606.ENSP00000264711 DNAJC27 273 DnaJ homolog subfamily C member 27; GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling; DNAJ heat shock proteins 9606.ENSP00000264712 KIF3C 793 Kinesin-like protein KIF3C; Microtubule-based anterograde translocator for membranous organelles; Kinesins 9606.ENSP00000264716 FOSL2 326 Fos-related antigen 2; Controls osteoclast survival and size. As a dimer with JUN, activates LIF transcription. Activates CEBPB transcription in PGE2-activated osteoblasts; Basic leucine zipper proteins 9606.ENSP00000264717 GCKR 625 Glucokinase regulatory protein; Inhibits glucokinase (GCK) by forming an inactive complex with this enzyme. The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6- phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity 9606.ENSP00000264718 GPN1 388 GPN-loop GTPase 1; Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import. Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. May be involved in nuclear localization of XPA 9606.ENSP00000264731 TP63 680 Tumor protein 63; Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio o [...] 9606.ENSP00000264734 CLDN16 305 Claudin-16; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Involved in paracellular magnesium reabsorption. Required for a selective paracellular conductance. May form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors; Claudins 9606.ENSP00000264735 HRASLS 273 Phospholipid-metabolizing enzyme A-C1; Exhibits calcium-independent phospholipase activity towards phosphatidylcholine (PC) and phosphatidylethanolamine (PE). Also shows acyltransferase activities, transferring an acyl group of PCs to the amino group of PEs and the hydroxyl group of lyso PCs; HRAS like suppressor family 9606.ENSP00000264741 ITGA9 1035 Integrin alpha-9; Integrin alpha-9/beta-1 (ITGA9:ITGB1) is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E- I-D-G-I-E-L in cytotactin 9606.ENSP00000264758 ADD1 768 Alpha-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin 9606.ENSP00000264771 TMEM175 504 Endosomal/lysosomal potassium channel TMEM175; Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel 9606.ENSP00000264775 PPAP2A 285 Phospholipid phosphatase 1; Phosphatidic acid phosphatase type 2A 9606.ENSP00000264779 GPBP1 480 Vasculin; Functions as a GC-rich promoter-specific transactivating transcription factor; Belongs to the vasculin family 9606.ENSP00000264784 SLC2A9 540 Solute carrier family 2, facilitated glucose transporter member 9; Transport urate and fructose. May have a role in the urate reabsorption by proximal tubules. Also transports glucose at low rate; Solute carriers 9606.ENSP00000264808 PRDM5 630 PR domain zinc finger protein 5; Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. Ma [...] 9606.ENSP00000264819 MIER2 545 Mesoderm induction early response protein 2; Transcriptional repressor; Myb/SANT domain containing 9606.ENSP00000264824 LYL1 280 Protein lyl-1; LYL1, basic helix-loop-helix family member 9606.ENSP00000264828 COL5A3 1745 Collagen alpha-3(V) chain; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin 9606.ENSP00000264832 ICAM1 532 Intercellular adhesion molecule 1; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). During leukocyte trans- endothelial migration, ICAM1 engagement promotes the assembly of endothelial apical cups through ARHGEF26/SGEF and RHOG activation; CD molecules 9606.ENSP00000264833 OLFM2 454 Noelin-2; Involved in transforming growth factor beta (TGF-beta)- induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes. Plays a role in AMPAR complex organization (By similarity). Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs underg [...] 9606.ENSP00000264834 KLF1 362 Krueppel-like factor 1; Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a tr [...] 9606.ENSP00000264852 SIDT1 827 SID1 transmembrane family member 1; In vitro binds long double-stranded RNA (dsRNA) (500 and 700 base pairs), but not dsRNA shorter than 300 bp. Not involved in RNA autophagy, a process in which RNA is directly imported into lysosomes in an ATP-dependent manner, and degraded 9606.ENSP00000264864 PI4K2B 481 Phosphatidylinositol 4-kinase type 2-beta; Together with PI4K2A and the type III PI4Ks (PIK4CA and PIK4CB) it contributes to the overall PI4-kinase activity of the cell. This contribution may be especially significant in plasma membrane, endosomal and Golgi compartments. The phosphorylation of phosphatidylinositol (PI) to PI4P is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second messenger inositol 1,4,5-trisphosphate (InsP3). Contributes to the production of InsP3 in stimulated cells and is likely to be involved in the [...] 9606.ENSP00000264866 TBC1D19 526 TBC1 domain family member 19; May act as a GTPase-activating protein for Rab family protein(s) 9606.ENSP00000264867 PPARGC1A 798 Peroxisome proliferator-activated receptor gamma coactivator 1-alpha; Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in [...] 9606.ENSP00000264870 F13A1 732 Coagulation factor XIII A chain; Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl- epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin 9606.ENSP00000264883 NUP54 507 Nucleoporin p54; Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane; Nucleoporins 9606.ENSP00000264893 SEPT11 429 Septin-11; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy; Septins 9606.ENSP00000264896 SCARB2 478 Lysosome membrane protein 2; Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting; Belongs to the CD36 family 9606.ENSP00000264908 ANXA3 323 Annexin A3; Inhibitor of phospholipase A2, also possesses anti- coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate; Annexins 9606.ENSP00000264914 ARSB 533 Arylsulfatase B; Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation. Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium. In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity); Belongs to the sulfatase family 9606.ENSP00000264917 PDE8B 885 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland; Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily 9606.ENSP00000264926 RAD18 495 E3 ubiquitin-protein ligase RAD18; E3 ubiquitin-protein ligase involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap- filling of a daughter strand on replication of damaged DNA. Associates to the E2 ubiquitin conjugating enzyme UBE2B to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono- ubiquitination of DNA-associated PCNA on 'Lys-164'. Has ssDNA binding activity 9606.ENSP00000264930 SLC12A7 1083 Solute carrier family 12 member 7; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti. May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (By similarity); Solute carriers 9606.ENSP00000264932 SDHA 664 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor; Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily 9606.ENSP00000264933 PDCD6 191 Programmed cell death protein 6; Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes. Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby b [...] 9606.ENSP00000264935 CEP72 647 Centrosomal protein of 72 kDa; Involved in the recruitment of key centrosomal proteins to the centrosome. Provides centrosomal microtubule-nucleation activity on the gamma-tubulin ring complexes (gamma-TuRCs) and has critical roles in forming a focused bipolar spindle, which is needed for proper tension generation between sister chromatids. Required for localization of KIZ, AKAP9 and gamma-tubulin ring complexes (gamma-TuRCs). Involved in centriole duplication. Required for CDK5RAP22, CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 9606.ENSP00000264938 SLC9A3 834 Sodium/hydrogen exchanger 3; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction; Solute carriers 9606.ENSP00000264951 XRN1 1706 5'-3' exoribonuclease 1; Major 5'-3' exoribonuclease involved in mRNA decay. Required for the 5'-3'-processing of the G4 tetraplex-containing DNA and RNA substrates. The kinetic of hydrolysis is faster for G4 RNA tetraplex than for G4 DNA tetraplex and monomeric RNA tetraplex. Binds to RNA and DNA (By similarity). Plays a role in replication-dependent histone mRNA degradation. May act as a tumor suppressor protein in osteogenic sarcoma (OGS) 9606.ENSP00000264952 GRK7 553 Rhodopsin kinase; Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO) 9606.ENSP00000264954 GRPEL1 217 GrpE protein homolog 1, mitochondrial; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (By similarity). Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins 9606.ENSP00000264956 EVC 992 Ellis-van Creveld syndrome protein; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development 9606.ENSP00000264968 MGAT4A 535 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A; Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N- linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Involved in glucose transport by mediating SLC2A2/GLUT2 glycosylation, thereby controlling cell-surface expression of SLC2A2 in pancreatic beta cells; Mannosyl-glycoprote [...] 9606.ENSP00000264972 ZAP70 619 Tyrosine-protein kinase ZAP-70; Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Contributes also to the development and activation of primary B-lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the doubly phosphorylated TCR component CD247/CD3Z through ITAM motif at the plasma membrane. This recruitment serves to localization to the stimulated T [...] 9606.ENSP00000264977 PPP2R3A 1150 Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; EF-hand domain containing 9606.ENSP00000264982 CEP70 597 Centrosomal protein of 70 kDa; Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle 9606.ENSP00000264990 ACAD11 780 Acyl-CoA dehydrogenase family member 11; Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA 9606.ENSP00000264993 CDV3 258 CDV3 homolog 9606.ENSP00000264995 MRPL3 348 Mitochondrial ribosomal protein L3 9606.ENSP00000265000 GALNT7 657 N-acetylgalactosaminyltransferase 7; Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide su [...] 9606.ENSP00000265007 SOX30 753 Transcription factor SOX-30; Transcriptional activator. Binds to the DNA sequence 5'- ACAAT-3' and shows a preference for guanine residues surrounding this core motif; SRY-boxes 9606.ENSP00000265016 BST1 318 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2; Synthesizes the second messagers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth; Belongs to the ADP-ribosyl cyclase family 9606.ENSP00000265018 FAM184B 1060 Protein FAM184B; Family with sequence similarity 184 member B; Belongs to the FAM184 family 9606.ENSP00000265022 DGKG 791 Diacylglycerol kinase gamma; Reverses the normal flow of glycerolipid biosynthesis by phosphorylating diacylglycerol back to phosphatidic acid; Belongs to the eukaryotic diacylglycerol kinase family 9606.ENSP00000265023 KNG1 644 Kininogen-1; (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin- induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation [...] 9606.ENSP00000265026 MAP3K13 966 Mitogen-activated protein kinase kinase kinase 13; Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibitors of NF-kappa-B 9606.ENSP00000265029 FETUB 382 Fetuin-B; Protease inhibitor required for egg fertilization. Required to prevent premature zona pellucida hardening before fertilization, probably by inhibiting the protease activity of ASTL, a protease that mediates the cleavage of ZP2 and triggers zona pellucida hardening (By similarity); Belongs to the fetuin family 9606.ENSP00000265036 DEPDC1B 529 DEP domain containing 1B 9606.ENSP00000265038 ERCC8 396 DNA excision repair protein ERCC-8; Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription- coupled repair complex which removes RNA polymerase II- [...] 9606.ENSP00000265044 SSR3 185 Translocon-associated protein subunit gamma; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins; Belongs to the TRAP-gamma family 9606.ENSP00000265052 MGLL 313 Monoglyceride lipase; Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes the endocannabinoid 2-arachidonoylglycerol, and thereby contributes to the regulation of endocannabinoid signaling, nociperception and perception of pain (By similarity). Regulates the levels of fatty acids that serve as signaling molecules and promote cancer cell migration, invasion and tumor growth; Lipases 9606.ENSP00000265056 MCM2 904 DNA replication licensing factor MCM2; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] 9606.ENSP00000265062 RAB7A 207 Ras-related protein Rab-7a; Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient- transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulat [...] 9606.ENSP00000265068 KIAA1257 409 Uncharacterized protein KIAA1257; KIAA1257 9606.ENSP00000265069 ZFR 1074 Zinc finger RNA-binding protein; Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity) 9606.ENSP00000265070 GOLPH3 298 Golgi phosphoprotein 3; Phosphatidylinositol-4-phosphate-binding protein that links Golgi membranes to the cytoskeleton and may participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through inter [...] 9606.ENSP00000265071 CDH6 790 Cadherin-6; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000265073 SUB1 127 Activated RNA polymerase II transcriptional coactivator p15; General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA) 9606.ENSP00000265074 NPR3 541 Atrial natriuretic peptide receptor 3; Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. May regulate diuresis, blood pressure and skeletal development. Does not have guanylate cyclase activity; DENN/MADD domain containing 9606.ENSP00000265077 VCAN 3396 Versican core protein; May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid; C-type lectin domain containing 9606.ENSP00000265080 RASGRF2 1237 Ras-specific guanine nucleotide-releasing factor 2; Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation; Pleckstrin homology domain containing 9606.ENSP00000265081 MSH3 1137 DNA mismatch repair protein Msh3; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion- deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, [...] 9606.ENSP00000265085 CPEB4 729 Cytoplasmic polyadenylation element-binding protein 4; Sequence-specific RNA-binding protein that binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism. Regulates activation of unfolded protein response (UPR) in the process of adaptation to ER stress in liver, by maintaining translation of CPE-regulated mRNAs in conditions in which global protein synthesis is inhibited (By similarity). Required for c [...] 9606.ENSP00000265087 STC2 302 Stanniocalcin-2; Has an anti-hypocalcemic action on calcium and phosphate homeostasis; Belongs to the stanniocalcin family 9606.ENSP00000265094 FBXW11 542 F-box/WD repeat-containing protein 11; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling. SCF(FBXW11) mediates the ubiquitination of phosphorylated NFKBIA, which degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. SCF(FBXW11) media [...] 9606.ENSP00000265097 THOC3 351 THO complex subunit 3; Required for efficient export of polyadenylated RNA and spliced mRNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cyt [...] 9606.ENSP00000265104 DNAH5 4624 Dynein heavy chain 5, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles; Dyneins, axonemal 9606.ENSP00000265107 WDR70 654 WD repeat-containing protein 70; WD repeat domain containing; Belongs to the WD repeat GAD-1 family 9606.ENSP00000265113 SLC1A3 542 Excitatory amino acid transporter 1; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which [...] 9606.ENSP00000265131 TNC 2201 Tenascin; Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha-V/beta-6. In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells; Belongs to the tenascin family 9606.ENSP00000265132 AMBP 352 Protein AMBP; Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization; Lipocalins 9606.ENSP00000265138 ARRDC3 414 Arrestin domain-containing protein 3; Adapter protein that plays a role in regulating cell- surface expression of adrenergic receptors and probably also other G protein-coupled receptors. Plays a role in NEDD4-mediated ubiquitination and endocytosis af activated ADRB2 and subsequent ADRB2 degradation. May recruit NEDD4 to ADRB2. Alternatively, may function as adapter protein that does not play a major role in recruiting NEDD4 to ADRB2, but rather plays a role in a targeting ADRB2 to endosomes; Belongs to the arrestin family 9606.ENSP00000265140 ANKRD32 1058 SMC5-SMC6 complex localization factor protein 1; Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication- coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks. Promotes the recruitment of SLF2 and the SMC5-SMC6 complex to DNA lesions 9606.ENSP00000265148 CENPE 2701 Centromere-associated protein E; Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule- kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules. The transport of pole-pr [...] 9606.ENSP00000265162 ENPEP 957 Glutamyl aminopeptidase; Appears to have a role in the catabolic pathway of the renin-angiotensin system. Probably plays a role in regulating growth and differentiation of early B-lineage cells; Belongs to the peptidase M1 family 9606.ENSP00000265164 CASP6 293 Caspase-6; Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves poly(ADP-ribose) polymerase in vitro, as well as lamins. Overexpression promotes programmed cell death; Belongs to the peptidase C14A family 9606.ENSP00000265165 LEF1 399 Lymphoid enhancer-binding factor 1; Participates in the Wnt signaling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. May play a role in hair cell differentiation and follicle morphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Binds DNA in a sequence-specific manner. PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). Isoform 3 lacks the CTNNB1 interaction domain and may be an antagonist for Wnt signaling. Isoform 5 [...] 9606.ENSP00000265171 EGF 1207 Pro-epidermal growth factor; EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro 9606.ENSP00000265174 PAPSS1 624 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1; Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate- activation pathway. Required [...] 9606.ENSP00000265191 NME5 212 Nucleoside diphosphate kinase homolog 5; Does not seem to have NDK kinase activity. Confers protection from cell death by Bax and alters the cellular levels of several antioxidant enzymes including Gpx5. May play a role in spermiogenesis by increasing the ability of late-stage spermatids to eliminate reactive oxygen species (By similarity); NME/NM23 family 9606.ENSP00000265239 IQCG 443 IQ domain-containing protein G; Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin- dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades (Probable). Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility 9606.ENSP00000265245 LSG1 658 Large subunit GTPase 1 homolog; GTPase required for the XPO1/CRM1-mediated nuclear export of the 60S ribosomal subunit. Probably acts by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm (Probable) 9606.ENSP00000265260 PCNP 178 PEST proteolytic signal-containing nuclear protein; May be involved in cell cycle regulation 9606.ENSP00000265271 RBM27 1060 RNA-binding protein 27; RNA binding motif containing 9606.ENSP00000265276 GPAM 828 Glycerol-3-phosphate acyltransferase 1, mitochondrial; Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis 9606.ENSP00000265295 SPDL1 605 Protein Spindly; Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment. Acts as an adapter protein linking the dynein motor complex to various [...] 9606.ENSP00000265299 FAM188B 757 Probable ubiquitin carboxyl-terminal hydrolase MINDY-4; Probable hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins 9606.ENSP00000265310 TRPV5 729 Transient receptor potential cation channel subfamily V member 5; Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 hete [...] 9606.ENSP00000265316 ABCB6 842 ATP-binding cassette sub-family B member 6, mitochondrial; Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis; Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily 9606.ENSP00000265322 PECR 303 Peroxisomal trans-2-enoyl-CoA reductase; Participates in chain elongation of fatty acids. Has no 2,4-dienoyl-CoA reductase activity; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000265333 VDAC1 283 Voltage-dependent anion-selective channel protein 1; Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective. May participate in the formation of the permeability transition p [...] 9606.ENSP00000265334 CDKL3 592 Cyclin-dependent kinase-like 3; Cyclin dependent kinase like 3 9606.ENSP00000265339 UBE2B 152 Ubiquitin-conjugating enzyme E2 B; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'- and 'Lys-63'-linked polyubiquit [...] 9606.ENSP00000265340 PITX1 314 Pituitary homeobox 1; Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb; Belongs to the paired homeobox family. Bicoid subfamily 9606.ENSP00000265342 FSTL4 842 Follistatin-related protein 4; Immunoglobulin like domain containing 9606.ENSP00000265343 AFF4 1163 AF4/FMR2 family member 4; Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression; AF4/FMR2 family 9606.ENSP00000265350 MED20 212 Mediator of RNA polymerase II transcription subunit 20; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000265351 XPO5 1204 Exportin-5; Mediates the nuclear export of proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of [...] 9606.ENSP00000265354 SRF 508 Serum response factor; SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5' of the site of transcription initiation of some genes (such as FOS). Required for cardiac differentiation and maturation; MADS box family 9606.ENSP00000265361 SEMA3C 751 Semaphorin-3C; Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity); I-set domain containing 9606.ENSP00000265362 SEMA3A 771 Semaphorin-3A; Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1; Immunoglobulin like domain containing 9606.ENSP00000265371 NRP1 923 Neuropilin-1; The membrane-bound isoform 1 is a receptor involved in the development of the cardiovascular system, in angiogenesis, in the formation of certain neuronal circuits and in organogenesis outside the nervous system. It mediates the chemorepulsant activity of semaphorins. It binds to semaphorin 3A, The PLGF-2 isoform of PGF, The VEGF165 isoform of VEGFA and VEGFB. Coexpression with KDR results in increased VEGF165 binding to KDR as well as increased chemotaxis. Regulate VEGF-induced angiogenesis. Binding to VEGFA initiates a signaling pathway needed for motor neuron axon guid [...] 9606.ENSP00000265372 CREM 300 cAMP responsive element modulator; Basic leucine zipper proteins 9606.ENSP00000265379 COL6A5 2611 Collagen alpha-5(VI) chain; Collagen VI acts as a cell-binding protein; Collagens 9606.ENSP00000265381 APBA1 837 Amyloid-beta A4 precursor protein-binding family A member 1; Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP- beta; PDZ domain containing 9606.ENSP00000265382 PIP5K1B 540 Phosphatidylinositol 4-phosphate 5-kinase type-1 beta; Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity) 9606.ENSP00000265388 TNPO3 923 Transportin-3; Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains; Armadillo-like helical domain containing 9606.ENSP00000265395 HIBADH 336 3-hydroxyisobutyrate dehydrogenase, mitochondrial; 3-hydroxyisobutyrate dehydrogenase 9606.ENSP00000265403 UGT2B10 528 UDP-glucuronosyltransferase 2B10; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000265404 STAP1 295 Signal-transducing adaptor protein 1; In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC; SH2 domain containing 9606.ENSP00000265421 POLB 335 DNA polymerase beta; Repair polymerase that plays a key role in base-excision repair. Has 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5' sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3' end of the arising single-nucleotide gap. Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases 9606.ENSP00000265431 CALB1 261 Calbindin; Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide phosphodiesterase; EF-hand domain containing 9606.ENSP00000265433 NBN 754 Nibrin; Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recrui [...] 9606.ENSP00000265437 ST7 585 Suppressor of tumorigenicity 7 protein; May act as a tumor suppressor; Belongs to the ST7 family 9606.ENSP00000265440 TFEC 347 Transcription factor EC; Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By sim [...] 9606.ENSP00000265441 WNT2 360 Protein Wnt-2; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters; Belongs to the Wnt family 9606.ENSP00000265459 NRXN2 1712 Neurexin-2; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling; Neurexins 9606.ENSP00000265462 PRDX5 214 Peroxiredoxin-5, mitochondrial; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events; Belongs to the peroxiredoxin family. Prx5 subfamily 9606.ENSP00000265465 POLA2 598 DNA polymerase alpha subunit B; May play an essential role at the early stage of chromosomal DNA replication by coupling the polymerase alpha/primase complex to the cellular replication machinery 9606.ENSP00000265471 B3GAT3 335 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4- Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta- [...] 9606.ENSP00000265512 ADH4 380 Alcohol dehydrogenase 4, pi polypeptide 9606.ENSP00000265560 USP4 963 Ubiquitin carboxyl-terminal hydrolase 4; Hydrolase that deubiquitinates target proteins such as the receptor ADORA2A, PDPK1 and TRIM21. Deubiquitination of ADORA2A increases the amount of functional receptor at the cell surface. May regulate mRNA splicing through deubiquitination of the U4 spliceosomal protein PRPF3. This may prevent its recognition by the U5 component PRPF8 thereby destabilizing interactions within the U4/U6.U5 snRNP. May also play a role in the regulation of quality control in the ER; Ubiquitin specific peptidases 9606.ENSP00000265562 PTPN23 1636 Tyrosine-protein phosphatase non-receptor type 23; Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes. May act as a negative regulator of Ras-mediated mitogenic activity. Plays a role in ciliogenesis; Protein tyrosine phosphatases, non-receptor type 9606.ENSP00000265563 PRKAR2A 404 cAMP-dependent protein kinase type II-alpha regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase 9606.ENSP00000265564 EXOSC7 291 Exosome complex component RRP42; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] 9606.ENSP00000265565 SCAP 1279 Sterol regulatory element-binding protein cleavage-activating protein; Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, prot [...] 9606.ENSP00000265572 OPRK1 380 Kappa-type opioid receptor; G-protein coupled opioid receptor that functions as receptor for endogenous alpha-neoendorphins and dynorphins, but has low affinity for beta-endorphins. Also functions as receptor for various synthetic opioids and for the psychoactive diterpene salvinorin A. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by r [...] 9606.ENSP00000265593 CLCN2 898 Chloride channel protein 2; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport; Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily 9606.ENSP00000265594 MCCC1 725 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism 9606.ENSP00000265598 LAMP3 416 Lysosome-associated membrane glycoprotein 3; May play a role in dendritic cell function and in adaptive immunity; CD molecules 9606.ENSP00000265605 ALDH8A1 487 Aldehyde dehydrogenase family 8 member A1; Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro) 9606.ENSP00000265627 PON3 354 Serum paraoxonase/lactonase 3; Has low activity towards the organophosphate paraxon and aromatic carboxylic acid esters. Rapidly hydrolyzes lactones such as statin prodrugs (e.g. lovastatin). Hydrolyzes aromatic lactones and 5- or 6-member ring lactones with aliphatic substituents but not simple lactones or those with polar substituents; Belongs to the paraoxonase family 9606.ENSP00000265634 NPTX2 431 Neuronal pentraxin-2; Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner (By similarity) 9606.ENSP00000265641 CPT1A 773 Carnitine O-palmitoyltransferase 1, liver isoform; Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism 9606.ENSP00000265643 GAL 123 Galanin peptides; Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. This small neuropeptide may regulate diverse physiologic functions including contraction of smooth muscle of the gastrointestinal and genitourinary tract, growth hormone and insulin release and adrenal secretion; Belongs to the galanin family 9606.ENSP00000265651 FBXO3 471 F-box only protein 3; Substrate recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Mediates the ubiquitination of HIPK2 and probably that of EP300, leading to rapid degradation by the proteasome. In the presence of PML, HIPK2 ubiquitination still occurs, but degradation is prevented. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53- dependent transactivation; F-boxes other 9606.ENSP00000265686 TCIRG1 830 V-type proton ATPase 116 kDa subunit a isoform 3; Part of the proton channel of V-ATPases (By similarity). Seems to be directly involved in T-cell activation; Belongs to the V-ATPase 116 kDa subunit family 9606.ENSP00000265689 CHKA 457 Choline kinase alpha; Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates choline and ethanolamine. Has higher activity with choline 9606.ENSP00000265707 ADAM18 739 Disintegrin and metalloproteinase domain-containing protein 18; Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity); ADAM metallopeptidase domain containing 9606.ENSP00000265708 ADAM2 735 Disintegrin and metalloproteinase domain-containing protein 2; Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein; ADAM metallopeptidase domain containing 9606.ENSP00000265709 ANK1 1897 Ankyrin-1; Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions 9606.ENSP00000265715 SLC26A4 780 Pendrin; Sodium-independent transporter of chloride and iodide; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family 9606.ENSP00000265717 PRKAR2B 418 cAMP-dependent protein kinase type II-beta regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase 9606.ENSP00000265720 DUS4L 317 tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs 9606.ENSP00000265723 ABCB4 1286 Phosphatidylcholine translocator ABCB4; Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts. Plays a role in the recruitment of pho [...] 9606.ENSP00000265727 ADAM22 906 Disintegrin and metalloproteinase domain-containing protein 22; Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1; ADAM metallopeptidase domain containing 9606.ENSP00000265728 DBF4 674 Protein DBF4 homolog A; Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle; Zinc fingers DBF-type 9606.ENSP00000265729 SRI 198 Sorcin; Calcium-binding protein that modulates excitation- contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels; EF-hand domain containing 9606.ENSP00000265732 RBM48 367 RNA-binding protein 48; RNA binding motif containing 9606.ENSP00000265734 CDK6 326 Cyclin-dependent kinase 6; Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cel [...] 9606.ENSP00000265742 ANKIB1 1089 Ankyrin repeat and IBR domain-containing protein 1; Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin- conjugating enzymes and then transfers it to substrates; Belongs to the RBR family 9606.ENSP00000265748 ANLN 1124 Anillin; Required for cytokinesis. Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis. May play a significant role in podocyte cell migration; Pleckstrin homology domain containing 9606.ENSP00000265753 EIF4H 248 Eukaryotic translation initiation factor 4H; Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA; RNA binding motif containing 9606.ENSP00000265769 ADAM28 775 Disintegrin and metalloproteinase domain-containing protein 28; May play a role in the adhesive and proteolytic events that occur during lymphocyte emigration or may function in ectodomain shedding of lymphocyte surface target proteins, such as FASL and CD40L. May be involved in sperm maturation; ADAM metallopeptidase domain containing 9606.ENSP00000265773 SMARCA2 1590 Probable global transcription activator SNF2L2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural develop [...] 9606.ENSP00000265806 R3HCC1 253 R3H domain and coiled-coil containing 1 9606.ENSP00000265807 SH2D4A 454 SH2 domain-containing protein 4A; Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function; Protein phosphatase 1 regulatory subunits 9606.ENSP00000265825 FSCN3 498 Fascin-3; Acts as an actin bundling protein; Belongs to the fascin family 9606.ENSP00000265838 ACAT1 427 Acetyl-CoA acetyltransferase, mitochondrial; Plays a major role in ketone body metabolism 9606.ENSP00000265840 ELMOD1 334 ELMO domain-containing protein 1; Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family 9606.ENSP00000265843 EXPH5 1989 Exophilin-5; May act as Rab effector protein and play a role in vesicle trafficking 9606.ENSP00000265849 PMS2 862 Mismatch repair endonuclease PMS2; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2- MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing t [...] 9606.ENSP00000265857 GET4 327 Golgi to ER traffic protein 4 homolog; As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of n [...] 9606.ENSP00000265866 HNRNPH3 346 Heterogeneous nuclear ribonucleoprotein H3; Involved in the splicing process and participates in early heat shock-induced splicing arrest. Due to their great structural variations the different isoforms may possess different functions in the splicing reaction; RNA binding motif containing 9606.ENSP00000265872 CCAR1 1150 Cell division cycle and apoptosis regulator protein 1; Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apopto [...] 9606.ENSP00000265881 REXO2 237 Oligoribonuclease, mitochondrial; 3'-to-5' exoribonuclease specific for small oligoribonucleotides. Active on small (primarily spermidine = spermine >> N(1)acetylspermine = putrescine; GCN5 related N-acetyltransferases 9606.ENSP00000269299 ASGR1 291 Asialoglycoprotein receptor 1; Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface; C-type lectin domain containing 9606.ENSP00000269305 TP53 393 Cellular tumor antigen p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in [...] 9606.ENSP00000269321 ARHGDIA 204 Rho GDP-dissociation inhibitor 1; Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. T [...] 9606.ENSP00000269346 TTYH2 534 Protein tweety homolog 2; Probable large-conductance Ca(2+)-activated chloride channel. May play a role in Ca(2+) signal transduction. May be involved in cell proliferation and cell aggregation; Belongs to the tweety family 9606.ENSP00000269349 EIF4A3 411 Eukaryotic initiation factor 4A-III; ATP-dependent RNA helicase. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all s [...] 9606.ENSP00000269373 FN3KRP 309 Ketosamine-3-kinase; Phosphorylates psicosamines and ribulosamines, but not fructosamines, on the third carbon of the sugar moiety. Protein- bound psicosamine 3-phosphates and ribulosamine 3-phosphates are unstable and decompose under physiological conditions. Thus phosphorylation leads to deglycation 9606.ENSP00000269383 TRIM65 517 Tripartite motif containing 65; Belongs to the TRIM/RBCC family 9606.ENSP00000269385 CBX8 389 Chromobox protein homolog 8; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility; Chromobox family 9606.ENSP00000269389 SECTM1 248 Secreted and transmembrane protein 1; May be involved in thymocyte signaling 9606.ENSP00000269391 RNF157 679 E3 ubiquitin ligase RNF157; E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons. Has a dual role in neurons as it is also required for dendrite growth and maintenance for which its ligase activity is not critical. May act as a scaffold molecule to regulate this process. Acts as a downstream effector of the interconnected PI3K and MAPK signaling pathways and thus participates in the regulation of the cell cycle; Ring finger proteins 9606.ENSP00000269394 ZNF750 723 Zinc finger protein 750; Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression 9606.ENSP00000269397 CBX4 560 E3 SUMO-protein ligase CBX4; E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I. Involved in the sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression. Monosumoylates ZNF131; Chromobox family 9606.ENSP00000269439 RNF165 346 E3 ubiquitin-protein ligase RNF165; E3 ubiquitin-protein ligase that acts as a regulator of motor axon elongation. Required for efficient motor axon extension in the dorsal forelimb by enhancing the transcriptional responses of the SMAD1/SMAD5/SMAD8 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD6, SMAD7, SKI and SNON isoform of SKIL; Belongs to the Arkadia family 9606.ENSP00000269445 DYM 669 Dymeclin; Necessary for correct organization of Golgi apparatus. Involved in bone development; Belongs to the dymeclin family 9606.ENSP00000269466 ELAC1 363 Zinc phosphodiesterase ELAC protein 1; Zinc phosphodiesterase, which displays some tRNA 3'- processing endonuclease activity. Probably involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA; Belongs to the RNase Z family 9606.ENSP00000269491 SERPINB12 405 Serpin B12; Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator; Belongs to the serpin family. Ov-serpin subfamily 9606.ENSP00000269499 ZCCHC2 1178 Zinc finger CCHC-type containing 2 9606.ENSP00000269503 CBLN2 224 Cerebellin-2; May play role in synaptogenesis induction 9606.ENSP00000269571 ERBB2 1255 Receptor tyrosine-protein kinase erbB-2; Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding. Essential component of a neuregulin-receptor complex, although neuregulins do not interact with it alone. GP30 is a potential ligand for this receptor. Regulates outgrowth and stabilization of peripheral microtubules (MTs). Upon ERBB2 activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits the phosphorylation and thus the inhibition of GSK3B at cell membrane. This prevents the phosphorylation of APC and [...] 9606.ENSP00000269576 KRT10 584 Keratin, type I cytoskeletal 10; Keratins, type I 9606.ENSP00000269582 PNMT 282 Phenylethanolamine N-methyltransferase; Converts noradrenaline to adrenaline; Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family 9606.ENSP00000269586 ARL5C 179 Putative ADP-ribosylation factor-like protein 5C; Binds and exchanges GTP and GDP; ARF GTPase family 9606.ENSP00000269593 IGFBP4 258 Insulin-like growth factor-binding protein 4; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors 9606.ENSP00000269601 TXNL4A 142 Thioredoxin-like protein 4A; Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly; Belongs to the DIM1 family 9606.ENSP00000269701 AKAP8 692 A-kinase anchor protein 8; Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring. May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression. Required for cell cycle G2/M transition and histone deacetyla [...] 9606.ENSP00000269703 CYP4F22 531 Cytochrome P450 family 4 subfamily F member 22 9606.ENSP00000269720 MIR1199 361 Uncharacterized protein MISP3; microRNA 1199; Belongs to the MISP family 9606.ENSP00000269740 SLC39A3 314 Zinc transporter ZIP3; Acts as a zinc-influx transporter; Solute carriers 9606.ENSP00000269829 ZNF544 715 Zinc finger protein 544; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000269834 ZIM3 472 Zinc finger imprinted 3; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000269844 PRDM15 1507 PR domain zinc finger protein 15; May be involved in transcriptional regulation; PR/SET domain family 9606.ENSP00000269848 PFKL 780 ATP-dependent 6-phosphofructokinase, liver type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily 9606.ENSP00000269856 FEM1A 669 Protein fem-1 homolog A; Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit (By similarity). May participate in antiinflammatory signaling via its interaction with PTGER4; Ankyrin repeat domain containing 9606.ENSP00000269878 CIB3 187 Calcium and integrin binding family member 3; EF-hand domain containing 9606.ENSP00000269881 CALR3 384 Calreticulin-3; During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium- binding may be absent or much lower than that of CALR; Belongs to the calreticulin family 9606.ENSP00000269886 SH3GL1 368 Endophilin-A2; Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity); Belongs to the endophilin family 9606.ENSP00000269919 PGPEP1 209 Pyroglutamyl-peptidase 1; Removes 5-oxoproline from various penultimate amino acid residues except L-proline 9606.ENSP00000269945 DMRTC2 367 Doublesex- and mab-3-related transcription factor C2; May be involved in sexual development; Belongs to the DMRT family 9606.ENSP00000269967 CCDC97 343 Coiled-coil domain containing 97 9606.ENSP00000269973 ZNF45 682 Zinc finger protein 45; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000269980 BCKDHA 445 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3) 9606.ENSP00000270001 ZFP14 533 Zinc finger protein 14 homolog; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000270061 SSBP4 385 Single stranded DNA binding protein 4 9606.ENSP00000270066 SMG9 520 Protein SMG9; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8. Plays a role in brain, heart, and eye development (By similarity); Belongs to the SMG9 family 9606.ENSP00000270077 PSG9 426 Pregnancy specific beta-1-glycoprotein 9 9606.ENSP00000270112 HUNK 714 Hormonally up-regulated Neu-associated kinase; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily 9606.ENSP00000270115 LRRC56 542 Leucine-rich repeat-containing protein 56; Leucine rich repeat containing 56 9606.ENSP00000270139 IFNAR1 557 Interferon alpha/beta receptor 1; Component of the receptor for type I interferons, including interferons alpha, IFNB1 and IFNW1. Functions in general as heterodimer with IFNAR2. Type I interferon binding activates the JAK-STAT signaling cascade, and triggers tyrosine phosphorylation of a number of proteins including JAKs, TYK2, STAT proteins and the IFNR alpha- and beta- subunits themselves. Can form an active IFNB1 receptor by itself and activate a signaling cascade that does not involve activation of the JAK-STAT pathway (By similarity) 9606.ENSP00000270142 SOD1 154 Superoxide dismutase [Cu-Zn]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems 9606.ENSP00000270162 SIK1 783 Serine/threonine-protein kinase SIK1; Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. Phosphorylates HDAC4, HDAC5, PPME1, SREBF1, CRTC1/TORC1 and CRTC2/TORC2. Acts as a tumor suppressor and plays a key role in p53/TP53-dependent anoikis, a type of apoptosis triggered by cell detachment: required for phosphorylation of p53/TP53 in response to loss of adhesion and is able to suppress metastasis. Part of a sodium-sensing signaling network, proba [...] 9606.ENSP00000270172 DNMT3L 387 DNA (cytosine-5)-methyltransferase 3-like; Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by binding to their catalytic domain. Acts by accelerating the binding of DNA and S-adenosyl-L-methionine (AdoMet) to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases. Recognizes unmethylated histone H3 lysine 4 (H3K4me0) and induces de novo DNA methylation by [...] 9606.ENSP00000270176 SCYL1 808 N-terminal kinase-like protein; Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum. Involved in the maintenance of the Golgi apparatus morphology. Has no detectable kinase activity in vitro 9606.ENSP00000270221 EMP3 163 Epithelial membrane protein 3; Probably involved in cell proliferation and cell-cell interactions 9606.ENSP00000270223 DMWD 674 Dystrophia myotonica WD repeat-containing protein; DM1 locus, WD repeat containing 9606.ENSP00000270225 SAE1 346 SUMO-activating enzyme subunit 1; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2; Ubiquitin like modifier activating enzymes 9606.ENSP00000270233 BCAM 628 Basal cell adhesion molecule; Laminin alpha-5 receptor. May mediate intracellular signaling; Blood group antigens 9606.ENSP00000270235 NTN5 489 Netrin-5; Netrin 5; Netrins 9606.ENSP00000270238 LMTK3 1489 Serine/threonine-protein kinase LMTK3; Protein kinase which phosphorylates ESR1 (in vitro) and protects it against proteasomal degradation. May also regulate ESR1 levels indirectly via a PKC-AKT-FOXO3 pathway where it decreases the activity of PKC and the phosphorylation of AKT, thereby increasing binding of transcriptional activator FOXO3 to the ESR1 promoter and increasing ESR1 transcription. Involved in endocytic trafficking of N-methyl- D-aspartate receptors (NMDAR) in neurons (By similarity); Protein phosphatase 1 regulatory subunits 9606.ENSP00000270257 GEMIN7 131 Gem-associated protein 7; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] 9606.ENSP00000270279 CBLC 474 E3 ubiquitin-protein ligase CBL-C; Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoi [...] 9606.ENSP00000270310 FXYD7 80 FXYD domain containing ion transport regulator 7; Belongs to the FXYD family 9606.ENSP00000270328 ADAMTS10 1103 A disintegrin and metalloproteinase with thrombospondin motifs 10; Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000270349 SLC6A3 620 Sodium-dependent dopamine transporter; Amine transporter. Terminates the action of dopamine by its high affinity sodium-dependent reuptake into presynaptic terminals; Solute carriers 9606.ENSP00000270357 RNPEPL1 494 Aminopeptidase RNPEPL1; Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine; Belongs to the peptidase M1 family 9606.ENSP00000270458 CACNG8 425 Voltage-dependent calcium channel gamma-8 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state 9606.ENSP00000270502 C19orf52 260 Mitochondrial import inner membrane translocase subunit Tim29; Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin- pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40 9606.ENSP00000270517 ECSIT 431 Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial; Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development (By similarity); Belongs to the ECSIT family 9606.ENSP00000270538 TIMM44 452 Mitochondrial import inner membrane translocase subunit TIM44; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source; Belongs to the Tim44 family 9606.ENSP00000270560 TM4SF5 197 Transmembrane 4 L six family member 5; Belongs to the L6 tetraspanin family 9606.ENSP00000270570 SLC47A1 570 Multidrug and toxin extrusion protein 1; Solute transporter for tetraethylammonium (TEA), 1- methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide (NMN), metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, ganciclovir and also the zwitterionic cephalosporin, cephalexin and cephradin. Seems to also play a role in the uptake of oxaliplatin (a new platinum anticancer agent). Able to transport paraquat (PQ or N,N-dimethyl-4-4'-bipiridinium); a widely used herbicid. Responsible for the secretion of cationic drugs across the brush border membranes 9606.ENSP00000270583 KLHDC4 520 Kelch domain containing 4 9606.ENSP00000270586 PSMB6 239 Proteasome subunit beta type-6; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing prot [...] 9606.ENSP00000270590 GPR32 356 Probable G-protein coupled receptor 32; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000270593 ACPT 426 Testicular acid phosphatase; May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage. May play a role in odontogenesis 9606.ENSP00000270625 RPS11 158 Ribosomal protein S11; Belongs to the universal ribosomal protein uS17 family 9606.ENSP00000270631 PTH2 100 Tuberoinfundibular peptide of 39 residues; Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits; Belongs to the parathyroid hormone family 9606.ENSP00000270642 IGLON5 336 IgLON family member 5; Immunoglobulin like domain containing; IgLON cell adhesion molecules 9606.ENSP00000270645 RCN3 328 Reticulocalbin-3; EF-hand domain containing; Belongs to the CREC family 9606.ENSP00000270649 ZNF614 585 Zinc finger protein 614; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000270708 WRAP73 460 WD repeat-containing protein WRAP73; The SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Required for the centrosomal localization of SSX2IP and normal mitotic bipolar spindle morphology. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP, CEP290 and PIBF1/CEP90. Required for ciliogenesis and involved in the removal of the CEP97:CCP110 complex from the mother centriole. Involved in ciliary vesicle formation at the mother centriole and required for the docking of vesicles to the basal bo [...] 9606.ENSP00000270722 PRDM16 1276 PR domain zinc finger protein 16; Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes differentiation; L [...] 9606.ENSP00000270747 ARHGEF19 802 Rho guanine nucleotide exchange factor 19; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase 9606.ENSP00000270776 PGD 483 6-phosphogluconate dehydrogenase, decarboxylating; Catalyzes the oxidative decarboxylation of 6- phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH; Belongs to the 6-phosphogluconate dehydrogenase family 9606.ENSP00000270792 SH3BGRL3 93 SH3 domain-binding glutamic acid-rich-like protein 3; Could act as a modulator of glutaredoxin biological activity 9606.ENSP00000270800 IL22RA1 574 Interleukin-22 receptor subunit alpha-1; Component of the receptor for IL20, IL22 and IL24. Component of IL22 receptor formed by IL22RA1 and IL10RB enabling IL22 signaling via JAK/STAT pathways. IL22 also induces activation of MAPK1/MAPK3 and Akt kinases pathways. Component of one of the receptor for IL20 and IL24 formed by IL22RA1 and IL20RB also signaling through STATs activation. Mediates IL24 antiangiogenic activity as well as IL24 inhibitory effect on endothelial cell tube formation and differentiation; Interleukin receptors 9606.ENSP00000270824 EVA1B 165 Eva-1 homolog B; Belongs to the EVA1 family 9606.ENSP00000270861 PLK4 970 Serine/threonine-protein kinase PLK4; Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates 'Ser-151' of FBXW5 during the G1/S transition, leading to inhibit [...] 9606.ENSP00000270879 FCN3 299 Ficolin-3; May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc- binding lectin. Has affinity with GalNAc, GlcNAc, D-fucose, as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and S.minnesota; Fibrinogen C domain containing 9606.ENSP00000271064 TINAGL1 467 Tubulointerstitial nephritis antigen-like; May be implicated in the adrenocortical zonation and in mechanisms for repressing the CYP11B1 gene expression in adrenocortical cells. This is a non catalytic peptidase C1 family protein (By similarity) 9606.ENSP00000271139 MOB3C 268 MOB kinase activator 3C; May regulate the activity of kinases; MOB kinase activators 9606.ENSP00000271227 SLC44A3 653 Choline transporter-like protein 3; Solute carrier family 44 member 3 9606.ENSP00000271234 FNBP1L 605 Formin-binding protein 1-like; Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens; [...] 9606.ENSP00000271277 CTTNBP2NL 639 CTTNBP2 N-terminal-like protein; CTTNBP2 N-terminal like; STRIPAK complex 9606.ENSP00000271308 PSMA5 241 Proteasome subunit alpha type-5; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] 9606.ENSP00000271324 CD53 219 Leukocyte surface antigen CD53; Required for efficient formation of myofibers in regenerating muscle at the level of cell fusion. May be involved in growth regulation in hematopoietic cells (By similarity); CD molecules 9606.ENSP00000271331 PROK1 105 Prokineticin-1; Potently contracts gastrointestinal (GI) smooth muscle. Induces proliferation, migration and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. Has little or no effect on a variety of other endothelial and non-endothelial cell types. Induces proliferation and differentiation, but not migration, of enteric neural crest cells. Directly influences neuroblastoma progression by promoting the proliferation and migration of neuroblastoma cells. Positively regulates PTGS2 expression and prostaglandin synthesis. [...] 9606.ENSP00000271332 CELSR2 2923 Cadherin EGF LAG seven-pass G-type receptor 2; Receptor that may have an important role in cell/cell signaling during nervous system formation; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily 9606.ENSP00000271375 SFT2D2 160 Vesicle transport protein SFT2B; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex 9606.ENSP00000271417 ILDR2 639 Immunoglobulin-like domain-containing receptor 2; May be involved in lipid homeostasis and ER stress pathways 9606.ENSP00000271450 FCGR2A 317 Low affinity immunoglobulin gamma Fc region receptor II-a; Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens; CD molecules 9606.ENSP00000271452 NUF2 464 Kinetochore protein Nuf2; Acts as a component of the essential kinetochore- associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules 9606.ENSP00000271526 PRCC 491 Proline-rich protein PRCC; May regulate cell cycle progression through interaction with MAD2L2; Spliceosomal Bact complex 9606.ENSP00000271532 FCRL4 515 Fc receptor-like protein 4; May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response; CD molecules 9606.ENSP00000271555 MEF2D 521 Myocyte-specific enhancer factor 2D; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity) 9606.ENSP00000271588 HMCN1 5635 Hemicentin-1; Promotes cleavage furrow maturation during cytokinesis in preimplantation embryos. May play a role in the architecture of adhesive and flexible epithelial cell junctions. May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration; Fibulins 9606.ENSP00000271620 PRUNE 453 Exopolyphosphatase PRUNE1; Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis. Involved in the regulation of microtubule polymerization 9606.ENSP00000271628 SF3B4 424 Splicing factor 3B subunit 4; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. SF3B4 has been found in complex 'B' and 'C' as well. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class [...] 9606.ENSP00000271636 CGN 1203 Cingulin; Probably plays a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier; Belongs to the cingulin family 9606.ENSP00000271638 S100A11 105 Protein S100-A11; Facilitates the differentiation and the cornification of keratinocytes; Belongs to the S-100 family 9606.ENSP00000271640 SETDB1 1291 Histone-lysine N-methyltransferase SETDB1; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation. Probably forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' t [...] 9606.ENSP00000271651 CTSK 329 Cathepsin K; Closely involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation; Cathepsins 9606.ENSP00000271688 CERS2 380 Ceramide synthase 2; Suppresses the growth of cancer cells. May be involved in sphingolipid synthesis; CERS class homeoboxes 9606.ENSP00000271715 POGZ 1410 Pogo transposable element with ZNF domain; Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms; DNA transposon derived genes 9606.ENSP00000271732 GOLPH3L 285 Golgi phosphoprotein 3-like; Phosphatidylinositol-4-phosphate-binding protein that may antagonize the action of GOLPH3 which is required for the process of vesicle budding at the Golgi and anterograde transport to the plasma membrane 9606.ENSP00000271751 KCNH1 989 Potassium voltage-gated channel subfamily H member 1; Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel. Channel properties are modulated by subunit assembly. Mediates IK(NI) current in myoblasts. Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs); Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily 9606.ENSP00000271764 EIF2D 584 Eukaryotic translation initiation factor 2D; Translation initiation factor that is able to deliver tRNA to the P-site of the eukaryotic ribosome in a GTP-independent manner. The binding of Met-tRNA(I) occurs after the AUG codon finds its position in the P-site of 40S ribosomes, the situation that takes place during initiation complex formation on some specific RNAs. Its activity in tRNA binding with 40S subunits does not require the presence of the aminoacyl moiety. Possesses the unique ability to deliver non-Met (elongator) tRNAs into the P- site of the 40S subunit. In addition to its [...] 9606.ENSP00000271835 CRNN 495 Cornulin; Survival factor that participates in the clonogenicity of squamous esophageal epithelium cell lines, attenuates deoxycholic acid (DCA)-induced apoptotic cell death and release of calcium. When overexpressed in oral squamous carcinom cell lines, regulates negatively cell proliferation by the induction of G1 arrest; Belongs to the S100-fused protein family 9606.ENSP00000271843 JTB 146 Protein JTB; Required for normal cytokinesis during mitosis. Plays a role in the regulation of cell proliferation. May be a component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Increases AURKB activity. Inhibits apoptosis induced by TGFB1 (By similarity). Overexpression induces swelling of mitochondria and reduces mitochondrial membrane [...] 9606.ENSP00000271971 CAPN9 690 Calpain-9; Calcium-regulated non-lysosomal thiol-protease; Belongs to the peptidase C2 family 9606.ENSP00000272067 ACP1 158 Low molecular weight phosphotyrosine protein phosphatase; Class II Cys-based phosphatases 9606.ENSP00000272091 SDE2 451 Replication stress response regulator SDE2; Involved in both DNA replication and cell cycle control. Unprocessed SDE2 interacts with PCNA via its PIP-box. The interaction with PCNA prevents monoubiquitination of the latter thereby inhibiting translesion DNA synthesis. The binding of SDE2 to PCNA also leads to processing of SDE2 by an unidentified deubiquinating enzyme, cleaving off the N-terminal ubiquitin-like domain. The resulting mature SDE2 is degraded by the DCX(DTL) complex in a cell cycle- and DNA damage dependent manner. Binding of SDE2 to PCNA is necessary to counteract damage [...] 9606.ENSP00000272133 CNIH3 160 Protein cornichon homolog 3; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization; Belongs to the cornichon family 9606.ENSP00000272134 LEFTY1 366 Left-right determination factor 1; Required for left-right axis determination as a regulator of LEFTY2 and NODAL 9606.ENSP00000272139 C1orf35 263 Multiple myeloma tumor-associated protein 2; Chromosome 1 open reading frame 35 9606.ENSP00000272164 WNT9A 365 Protein Wnt-9a; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity) 9606.ENSP00000272190 REN 406 Renin; Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney 9606.ENSP00000272198 PPFIA4 701 Liprin-alpha-4; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates (By similarity); Belongs to the liprin family. Liprin-alpha subfamily 9606.ENSP00000272203 PLEKHA6 1048 Pleckstrin homology domain containing A6 9606.ENSP00000272217 ARL8A 186 ADP-ribosylation factor-like protein 8A; May play a role in lysosomes motility. Alternatively, may play a role in chromosome segregation (By similarity); Belongs to the small GTPase superfamily. Arf family 9606.ENSP00000272223 OSR1 266 Protein odd-skipped-related 1; Transcription factor that plays a role in the regulation of embryonic heart and urogenital development; Zinc fingers C2H2-type 9606.ENSP00000272224 GDF7 450 Growth/differentiation factor 7; May play an active role in the motor area of the primate neocortex 9606.ENSP00000272233 RHOB 196 Rho-related GTP-binding protein RhoB; Mediates apoptosis in neoplastically transformed cells after DNA damage. Not essential for development but affects cell adhesion and growth factor signaling in transformed cells. Plays a negative role in tumorigenesis as deletion causes tumor formation. Involved in intracellular protein trafficking of a number of proteins. Targets PKN1 to endosomes and is involved in trafficking of the EGF receptor from late endosomes to lysosomes. Also required for stability and nuclear trafficking of AKT1/AKT which promotes endothelial cell survival during vascul [...] 9606.ENSP00000272238 ATP6V1C2 427 V-type proton ATPase subunit C 2; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; V-type ATPases 9606.ENSP00000272252 GALM 342 Aldose 1-epimerase; Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity) 9606.ENSP00000272286 ABCG8 673 ATP-binding cassette sub-family G member 8; ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG5 has ATPase activity; Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily 9606.ENSP00000272298 CALM2 149 Calmodulin 2 (phosphorylase kinase, delta); EF-hand domain containing 9606.ENSP00000272317 RPS27A 156 Ubiquitin-40S ribosomal protein S27a; Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be inv [...] 9606.ENSP00000272321 WDPCP 746 WD repeat-containing and planar cell polarity effector protein fritz homolog; Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity); Bardet-Biedl syndrome associated 9606.ENSP00000272322 VPS54 977 Vacuolar protein sorting-associated protein 54; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling; Belongs to the VPS54 family 9606.ENSP00000272324 REG3G 175 Regenerating islet-derived protein 3-gamma; Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Restricts bacterial colonization of the intestinal epithelial surface and consequently limits activation of adaptive immune responses by the microbiota. The uncleaved form has bacteriostatic activity, whereas the cleaved form has bactericidal activity against L.monocytogenes and methicillin-resistant S.aureus. Regulates keratinocyte proliferation and differentiati [...] 9606.ENSP00000272342 ETAA1 926 Ewing's tumor-associated antigen 1; Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity. Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1. Probably only regulates a subset of ATR targets 9606.ENSP00000272348 SNRPG 76 Small nuclear ribonucleoprotein G; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing 9606.ENSP00000272367 CLEC4F 589 C-type lectin domain family 4 member F; Receptor with an affinity for galactose and fucose. Could be involved in endocytosis (By similarity); C-type lectin domain containing 9606.ENSP00000272369 MEIS1 390 Homeobox protein Meis1; Acts as a transcriptional regulator of PAX6. Acts as a transcriptional activator of PF4 in complex with PBX1 or PBX2. Required for hematopoiesis, megakaryocyte lineage development and vascular patterning. May function as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukemias; TALE class homeoboxes and pseudogenes 9606.ENSP00000272371 OTOF 1997 Otoferlin; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity); Deafness associated genes 9606.ENSP00000272395 TRIM43 446 Tripartite motif containing 43; Ring finger proteins 9606.ENSP00000272418 MRPS5 430 Mitochondrial ribosomal protein S5 9606.ENSP00000272424 TPRKB 175 EKC/KEOPS complex subunit TPRKB; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (By similarity); Belongs to the CGI121/TPRKB family 9606.ENSP00000272425 NAT8 227 N-acetyltransferase 8; Acetylates the free alpha-amino group of cysteine S- conjugates to form mercapturic acids. This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S- conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6- acetylation of various protei [...] 9606.ENSP00000272427 EXOC6B 811 Exocyst complex component 6B; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane; Belongs to the SEC15 family 9606.ENSP00000272430 RTKN 563 Rhotekin; Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures; Pleckstrin homology domain containing 9606.ENSP00000272433 SFXN5 340 Sideroflexin-5; Transports citrate. Potential iron transporter (By similarity); Sideroflexins 9606.ENSP00000272438 TEX261 196 Protein TEX261; Testis expressed 261 9606.ENSP00000272444 DUSP11 377 RNA/RNP complex-1-interacting phosphatase; Possesses RNA 5'-triphosphatase and diphosphatase activities, but displays a poor protein-tyrosine phosphatase activity. In addition, has phosphatase activity with ATP, ADP and O-methylfluorescein phosphate (in vitro). Binds to RNA. May participate in nuclear mRNA metabolism; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000272452 SULT1C4 302 Sulfotransferase 1C4; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF) 9606.ENSP00000272462 MALL 153 MAL-like protein; Mal, T cell differentiation protein like; Belongs to the MAL family 9606.ENSP00000272519 RALB 206 Ras-related protein Ral-B; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis. In l [...] 9606.ENSP00000272520 C1QL2 287 Complement C1q-like protein 2; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity); C1q and TNF related 9606.ENSP00000272542 SLC20A1 679 Sodium-dependent phosphate transporter 1; Sodium-phosphate symporter which plays a fundamental housekeeping role in phosphate transport, such as absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification; Solute carriers 9606.ENSP00000272638 UBXN4 508 UBX domain-containing protein 4; Involved in endoplasmic reticulum-associated protein degradation (ERAD). Acts as a platform to recruit both UBQLN1 and VCP to the ER during ERAD; UBX domain containing 9606.ENSP00000272641 NXPH2 264 Neurexophilin-2; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors; Belongs to the neurexophilin family 9606.ENSP00000272643 THSD7B 1608 Thrombospondin type-1 domain-containing protein 7B; Thrombospondin type 1 domain containing 7B 9606.ENSP00000272645 POLR2D 142 DNA-directed RNA polymerase II subunit RPB4; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB4 is part of a subcomplex with RPB7 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems [...] 9606.ENSP00000272647 AMMECR1L 310 AMMECR1-like protein; AMMECR1 like 9606.ENSP00000272732 SCRN3 424 Secernin-3; Secernin 3 9606.ENSP00000272748 KIAA1715 428 Endoplasmic reticulum junction formation protein lunapark; Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology. Involved in the stabilization of nascent three-way ER tubular junctions within the ER network. May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network. May be involved in limb and central nervous system development (By similarity) 9606.ENSP00000272771 TMEFF2 374 Tomoregulin-2; May be a survival factor for hippocampal and mesencephalic neurons. The shedded form up-regulates cancer cell proliferation, probably by promoting ERK1/2 phosphorylation 9606.ENSP00000272847 PTH2R 550 Parathyroid hormone 2 receptor; This is a specific receptor for parathyroid hormone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. PTH2R may be responsible for PTH effects in a number of physiological systems. It may play a significant role in pancreatic function. PTH2R presence in neurons indicates that it may function as a neurotransmitter receptor (By similarity) 9606.ENSP00000272852 CPO 374 Carboxypeptidase O; Carboxypeptidase which preferentially cleaves C-terminal acidic residues from peptides and proteins. Can also cleave C- terminal hydrophobic amino acids, with a preference for small residues over large residues; M14 carboxypeptidases 9606.ENSP00000272895 ABCA12 2595 ATP-binding cassette sub-family A member 12; Probable transporter involved in lipid homeostasis; Belongs to the ABC transporter superfamily. ABCA family 9606.ENSP00000272902 SUMF1 374 Sulfatase-modifying factor 1; Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE; Belongs to the sulfatase-modifying factor family 9606.ENSP00000272907 NYAP2 653 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2; Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis 9606.ENSP00000272928 ACKR3 362 Atypical chemokine receptor 3; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CXCL11 and CXCL12/SDF1. Chemokine binding does not activate G-protein- mediated signal transduction but instead induces beta-arrestin recruitment, lead [...] 9606.ENSP00000272937 HES6 224 Transcription cofactor HES-6; Does not bind DNA itself but suppresses both HES1- mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000273047 RAB5A 215 Ras-related protein Rab-5A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. Required for the exosomal release of SDCBP, CD63, PDCD6I [...] 9606.ENSP00000273062 CTDSP1 261 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1; Preferentially catalyzes the dephosphorylation of 'Ser- 5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells; CTD family phosphatases 9606.ENSP00000273063 SLC4A3 1259 Anion exchange protein 3; Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-); Belongs to the anion exchanger (TC 2.A.31) family 9606.ENSP00000273064 RQCD1 299 CCR4-NOT transcription complex subunit 9; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in down-regulation of MYB- and JUN-dependent transcription. May play a role in cell differentiation (By similarity). Can bind oligonucleotides, such as poly-G, poly-C o [...] 9606.ENSP00000273067 MARCH4 410 E3 ubiquitin-protein ligase MARCH4; E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates; Membrane associated ring-CH-type fingers 9606.ENSP00000273075 DNPEP 485 Aspartyl aminopeptidase; Aminopeptidase with specificity towards an acidic amino acid at the N-terminus. Likely to play an important role in intracellular protein and peptide metabolism 9606.ENSP00000273077 PNKD 385 Probable hydrolase PNKD; Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway; Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family 9606.ENSP00000273130 DYNC1LI1 523 Cytoplasmic dynein 1 light intermediate chain 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Probably involved in the microtubule-dependent transport of pericentrin. Is required for progress through the spindle assembly checkp [...] 9606.ENSP00000273153 CSRNP1 589 Cysteine/serine-rich nuclear protein 1; Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May have a tumor-suppressor function. May play a role in apoptosis; Belongs to the AXUD1 family 9606.ENSP00000273158 SLC25A38 304 Solute carrier family 25 member 38; Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane; Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily 9606.ENSP00000273173 SLC22A14 594 Solute carrier family 22 member 14; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family 9606.ENSP00000273179 CTDSPL 276 CTD small phosphatase-like protein; Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells (By similarity). Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation; CTD family phosphatases 9606.ENSP00000273183 STAC 402 SH3 and cysteine-rich domain-containing protein; Probably involved in a neuron-specific signal transduction 9606.ENSP00000273258 ARL6IP5 188 PRA1 family protein 3; Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. May be involved in membrane traffic; YIP family 9606.ENSP00000273261 LRIG1 1093 Leucine-rich repeats and immunoglobulin-like domains protein 1; Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation; I-set domain containing 9606.ENSP00000273283 ITIH1 911 Inter-alpha-trypsin inhibitor heavy chain H1; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes 9606.ENSP00000273286 LRTM1 345 Leucine rich repeats and transmembrane domains 1 9606.ENSP00000273308 CNPY2 182 Protein canopy homolog 2; Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It prevents MIR-mediated MRLC ubiquitination and its subsequent proteasomal degradation; Belongs to the canopy family 9606.ENSP00000273317 LIMD1 676 LIM domain-containing protein 1; Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing and is essential for P-body formation and integrity. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Acts [...] 9606.ENSP00000273320 ZKSCAN7 754 Zinc finger protein with KRAB and SCAN domains 7; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000273352 GPR128 797 Adhesion G-protein coupled receptor G7; Orphan receptor 9606.ENSP00000273353 MYH15 1946 Myosin-15; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000273359 ABHD10 306 Mycophenolic acid acyl-glucuronide esterase, mitochondrial; Catalyzes the deglucuronidation of mycophenolic acid acyl-glucuronide, a metabolite of the immunosuppressant drug mycophenolate; Belongs to the AB hydrolase superfamily 9606.ENSP00000273371 PLA1A 456 Phospholipase A1 member A; Hydrolyzes the ester bond at the sn-1 position of glycerophospholipids and produces 2-acyl lysophospholipids. Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1- acyl-2 lysophosphatidylserine (lyso-PS), but not triolein, phosphatidylcholine (PC), phosphatidylethanolamine (PE), phosphatidic acid (PA) or phosphatidylinositol (PI). Isoform 2 hydrolyzes lyso-PS but not PS. Hydrolysis of lyso-PS in peritoneal mast cells activated by receptors for IgE leads to stimulate histamine production; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000273375 RABL3 236 Rab-like protein 3; RAB, member of RAS oncogene family like 3; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000273390 MAATS1 767 Cilia- and flagella-associated protein 91; May regulate cilium motility through its role in the assembly of the axonemal radial spokes 9606.ENSP00000273398 ATP6V1A 617 V-type proton ATPase catalytic subunit A; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation; Belongs to the ATPase alpha/beta chains family 9606.ENSP00000273450 ALDH1L1 912 Cytosolic 10-formyltetrahydrofolate dehydrogenase; Aldehyde dehydrogenase 1 family member L1; In the N-terminal section; belongs to the GART family 9606.ENSP00000273480 RNF7 113 RING-box protein 2; Probable component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (By similarity). Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme to the complex and brings it into close proximity to the substrate [...] 9606.ENSP00000273541 ISY1 307 Pre-mRNA-splicing factor ISY1 homolog; May play a role in pre-mRNA splicing; Spliceosomal B complex 9606.ENSP00000273550 FTH1 183 Ferritin heavy chain; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity); Belongs to the ferritin family 9606.ENSP00000273588 AMT 403 Aminomethyltransferase, mitochondrial; The glycine cleavage system catalyzes the degradation of glycine 9606.ENSP00000273590 TCTA 103 T-cell leukemia translocation-altered gene protein; May be required for cellular fusion during osteoclastogenesis; Belongs to the TCTA family 9606.ENSP00000273596 ABHD14A 271 Protein ABHD14A; Possible role in granule neuron development; Abhydrolase domain containing 9606.ENSP00000273598 NICN1 213 Nicolin-1; Nicolin 1 9606.ENSP00000273610 UCN2 112 Urocortin-2; Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress; Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family 9606.ENSP00000273666 STXBP5L 1186 Syntaxin-binding protein 5-like; May play a role in vesicle trafficking and exocytosis; Belongs to the WD repeat L(2)GL family 9606.ENSP00000273668 EAF2 260 ELL-associated factor 2; Acts as a transcriptional transactivator of TCEA1 elongation activity (By similarity). Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Potent inducer of apoptosis in prostatic and non-prostatic cell lines. Inhibits prostate tumor growth in vivo 9606.ENSP00000273695 TM4SF19 209 Transmembrane 4 L six family member 19; Belongs to the L6 tetraspanin family 9606.ENSP00000273783 EIF2B5 721 Translation initiation factor eIF-2B subunit epsilon; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family 9606.ENSP00000273814 DGKQ 942 Diacylglycerol kinase theta; Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). May regulate the activity of protein kinase C by controlling the balance between these two signaling lipids. Activated in the nucleus in response to alpha-thrombin and nerve growth factor (By similarity). May be involved in cAMP- induced activation of NR5A1 and subsequent steroidogenic gene transcription by delivering PA as ligand for NR5A1. Acts synergistically with NR5A1 on CYP17 transcriptional activity 9606.ENSP00000273853 CENPC 943 Centromere protein C; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPC recruits DNA methylation and DNMT3B to both centromeric and pericentromeric satellite repeats and regulates the histone code in these regions 9606.ENSP00000273857 CORIN 1042 Atrial natriuretic peptide-converting enzyme; Serine-type endopeptidase involved in atrial natriuretic peptide hormone (NPPA) processing. Converts through proteolytic cleavage the non-functional propeptide NPPA into the active hormone, thereby regulating blood pressure in heart and promoting natriuresis, diuresis and vasodilation. Proteolytic cleavage of pro-NPPA also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Also acts as a regulator of sodium reabsorption in kidney. May also process pro-NPPB the B-type natriuretic peptid [...] 9606.ENSP00000273859 ATP10D 1426 Probable phospholipid-transporting ATPase VD; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily 9606.ENSP00000273861 SLC10A4 437 Sodium/bile acid cotransporter 4; Transporter for bile acids; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family 9606.ENSP00000273905 SLC10A6 377 Solute carrier family 10 member 6; Transports sulfoconjugated steroid hormones, as well as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes in a sodium-dependent manner; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family 9606.ENSP00000273920 ENOPH1 261 Enolase-phosphatase E1; Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK- MTPene); HAD Asp-based non-protein phosphatases 9606.ENSP00000273936 CABS1 395 Calcium-binding and spermatid-specific protein 1; Calcium binding protein, spermatid associated 1 9606.ENSP00000273962 TRMT10A 339 tRNA methyltransferase 10 homolog A; S-adenosyl-L-methionine-dependent guanine N(1)- methyltransferase that catalyzes the formation of N(1)- methylguanine at position 9 (m1G9) in tRNAs. Probably not able to catalyze formation of N(1)- methyladenine at position 9 (m1A9) in tRNAs; Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family 9606.ENSP00000273963 KLHL8 620 Kelch-like protein 8; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN; BTB domain containing 9606.ENSP00000273968 PYURF 114 Protein preY, mitochondrial; PIGY upstream reading frame; Belongs to the PREY family 9606.ENSP00000273980 TBCK 893 TBC domain-containing protein kinase-like protein; Involved in the modulation of mTOR signaling and expression of mTOR complex components. Involved in the regulation of cell proliferation and growth. Involved in the control of actin-cytoskeleton organization 9606.ENSP00000273986 CISD2 135 CDGSH iron-sulfur domain-containing protein 2; Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Participates in the interaction of BCL2 with BECN1 and is required for BCL2-mediated depression of endoplasmic reticulum Ca(2+) stores during autophagy. Contributes to BIK-initiated autophagy, while it is not involved in BIK-dependent activation of caspases. Involved in life span control, probably via its function as regulator of autophagy; CDGSH iron sulfur domain containing 9606.ENSP00000274000 AP1AR 302 AP-1 complex-associated regulatory protein; Necessary for adaptor protein complex 1 (AP-1)-dependent transport between the trans-Golgi network and endosomes. Regulates the membrane association of AP1G1/gamma1-adaptin, one of the subunits of the AP-1 adaptor complex. The direct interaction with AP1G1/gamma1-adaptin attenuates the release of the AP-1 complex from membranes. Regulates endosomal membrane traffic via association with AP-1 and KIF5B thus linking kinesin-based plus- end-directed microtubular transport to AP-1-dependent membrane traffic. May act as effector of AP-1 in calcium- [...] 9606.ENSP00000274008 SPATA5 893 Spermatogenesis-associated protein 5; May be involved in morphological and functional mitochondrial transformations during spermatogenesis; Belongs to the AAA ATPase family. AFG2 subfamily 9606.ENSP00000274024 FABP2 132 Fatty acid-binding protein, intestinal; FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters. FABP2 is probably involved in triglyceride-rich lipoprotein synthesis. Binds saturated long-chain fatty acids with a high affinity, but binds with a lower affinity to unsaturated long- chain fatty acids. FABP2 may also help maintain energy homeostasis by functioning as a lipid sensor; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000274026 CCNA2 432 Cyclin-A2; Cyclin which controls both the G1/S and the G2/M transition phases of the cell cycle. Functions through the formation of specific serine/threonine protein kinase holoenzyme complexes with the cyclin-dependent protein kinases CDK1 or CDK2. The cyclin subunit confers the substrate specificity of these complexes and differentially interacts with and activates CDK1 and CDK2 throughout the cell cycle; Cyclins 9606.ENSP00000274031 SETD7 366 Histone-lysine N-methyltransferase SETD7; Histone methyltransferase that specifically monomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes such as collagenase or insulin. Recruited by IPF1/PDX-1 to the insulin promoter, leading to activate transcription. Has also methyltransferase activity toward non-histone proteins such as p53/TP53, TAF10, and possibly TAF7 by recognizing and binding the [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-18 [...] 9606.ENSP00000274054 NAF1 494 H/ACA ribonucleoprotein complex non-core subunit NAF1; RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4 9606.ENSP00000274063 SFRP2 295 Secreted frizzled-related protein 2; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP2 may be important for eye retinal development and for myogenesis 9606.ENSP00000274093 GLRA3 464 Glycine receptor subunit alpha-3; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel characteristics depend on the subunit composition; heteropentameric channels display faster channel closure (By similarity). Plays an important role in the down-regulation of neuronal excitability (By similarity). Contributes to the generation of inhibitory postsynaptic currents (By similarity). Contributes to increased pain perception in response to increased prostaglandin E2 levels (By similarity). Plays a role in cellular responses to [...] 9606.ENSP00000274137 NDUFS6 124 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000274140 MARCH6 910 E3 ubiquitin-protein ligase MARCH6; E3 ubiquitin-protein ligase that promotes ubiquitination of DIO2, leading to its degradation. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1; Membrane associated ring-CH-type fingers 9606.ENSP00000274181 ADAMTS16 1224 ADAM metallopeptidase with thrombospondin type 1 motif 16 9606.ENSP00000274192 SRD5A1 259 3-oxo-5-alpha-steroid 4-dehydrogenase 1; Converts testosterone into 5-alpha-dihydrotestosterone and progesterone or corticosterone into their corresponding 5- alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology 9606.ENSP00000274217 FAM105A 356 Inactive ubiquitin thioesterase FAM105A; Family with sequence similarity 105 member A; Belongs to the peptidase C65 family. Otulin subfamily 9606.ENSP00000274242 RPL37 97 60S ribosomal protein L37; Binds to the 23S rRNA; L ribosomal proteins 9606.ENSP00000274255 SKP2 424 S-phase kinase-associated protein 2; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription. Specifically recognizes phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. Degradation of CDKN1B/p27kip also requires CKS1. Recognizes target proteins ORC1, CDT1, RBL2, KMT2A/MLL1, CDK9, RAG2, FOXO1, UBP43, and probably MYC, TOB1 and TAL1. Degradation of T [...] 9606.ENSP00000274276 OSMR 979 Oncostatin-M-specific receptor subunit beta; Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events; Fibronectin type III domain containing 9606.ENSP00000274278 UGT3A1 523 UDP-glucuronosyltransferase 3A1; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity); Belongs to the UDP-glycosyltransferase family 9606.ENSP00000274289 PLK2 685 Serine/threonine-protein kinase PLK2; Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates CENPJ, NPM1, RAPGEF2, RASGRF1, SNCA, SIPA1L1 and SYNGAP1. Plays a key role in synaptic plasticity and memory by regulating the Ras and Rap protein signaling: required for overactivity-dependent spine remodeling by phosphorylating the Ras activator RASGRF1 an [...] 9606.ENSP00000274306 GZMA 262 Granzyme A; Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent cell death with morphological features of apoptosis when delivered into the target cell through the immunological synapse. It cleaves after Lys or Arg. Cleaves APEX1 after 'Lys-31' and destroys its oxidative repair activity. Cleaves the nucleosome assembly protein SET after 'Lys-189', which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA; Belongs to the peptidase S1 family. Granzyme [...] 9606.ENSP00000274311 PELO 385 Protein pelota homolog; Required for normal chromosome segregation during cell division and genomic stability (By similarity). May function in recognizing stalled ribosomes and triggering endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and degrade damaged mRNAs. May have ribonuclease activity (Potential); Belongs to the eukaryotic release factor 1 family. Pelota subfamily 9606.ENSP00000274341 HAPLN1 354 Hyaluronan and proteoglycan link protein 1; Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix; V-set domain containing 9606.ENSP00000274353 BHMT 406 Betaine--homocysteine S-methyltransferase 1; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline 9606.ENSP00000274361 ANKRD31 1873 Putative ankyrin repeat domain-containing protein 31; Ankyrin repeat domain containing 9606.ENSP00000274364 IQGAP2 1575 Ras GTPase-activating-like protein IQGAP2; Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin 9606.ENSP00000274368 CRHBP 322 Corticotropin-releasing factor-binding protein; Binds CRF and inactivates it. May prevent inappropriate pituitary-adrenal stimulation in pregnancy 9606.ENSP00000274376 RASA1 1047 Ras GTPase-activating protein 1; Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1; C2 and RasGAP domain containing 9606.ENSP00000274382 LIX1 282 Protein limb expression 1 homolog; Limb and CNS expressed 1; Belongs to the LIX1 family 9606.ENSP00000274432 SPATA9 254 Spermatogenesis-associated protein 9; May play a role in testicular development/spermatogenesis and may be an important factor in male infertility 9606.ENSP00000274457 FEM1C 617 Protein fem-1 homolog C; Probable component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit; Belongs to the fem-1 family 9606.ENSP00000274458 COMMD10 202 COMM domain-containing protein 10; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B 9606.ENSP00000274473 MEGF10 1140 Multiple epidermal growth factor-like domains protein 10; Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells. Cooperates with ABCA1 within the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the uptake of amyloid-beta peptides. Necessary for astrocyte-dependent apoptotic neuron clearance in the developing cerebellum. Plays role in muscle cell proliferation, adhesion and motility. [...] 9606.ENSP00000274487 ADAMTS19 1207 ADAM metallopeptidase with thrombospondin type 1 motif 19 9606.ENSP00000274496 YIPF5 257 Protein YIPF5; Plays a role in transport between endoplasmic reticulum and Golgi; Yip1 domain containing 9606.ENSP00000274498 ARHGAP26 814 Rho GTPase-activating protein 26; GTPase-activating protein for RHOA and CDC42 9606.ENSP00000274507 LECT2 151 Leukocyte cell-derived chemotaxin-2; Has a neutrophil chemotactic activity. Also a positive regulator of chondrocyte proliferation. Does not show metalloendopeptidase activity; Belongs to the LECT2/MIM-1 family 9606.ENSP00000274520 IL9 144 Interleukin-9; Supports IL-2 independent and IL-4 independent growth of helper T-cells; Interleukins 9606.ENSP00000274532 TIMD4 378 T-cell immunoglobulin and mucin domain-containing protein 4; Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Involved in regulating T-cell proliferation and lymphotoxin signaling. Ligand for HAVCR1/TIMD1 (By similarity); Belongs to the immunoglobulin superfamily. TIM family 9606.ENSP00000274545 GABRA6 453 Gamma-aminobutyric acid receptor subunit alpha-6; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000274547 GABRB2 512 Gamma-aminobutyric acid receptor subunit beta-2; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000274565 SPINK7 85 Serine protease inhibitor Kazal-type 7; Probable serine protease inhibitor; Serine peptidase inhibitors, Kazal type 9606.ENSP00000274569 PCYOX1L 494 Prenylcysteine oxidase-like; Probable oxidoreductase; Belongs to the prenylcysteine oxidase family 9606.ENSP00000274605 N4BP3 544 NEDD4-binding protein 3; Plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage; Belongs to the N4BP3 family 9606.ENSP00000274606 NHP2 153 H/ACA ribonucleoprotein complex subunit 2; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...] 9606.ENSP00000274625 FGF18 207 Fibroblast growth factor 18; Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation 9606.ENSP00000274629 KCNMB1 191 Calcium-activated potassium channel subunit beta-1; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its prese [...] 9606.ENSP00000274643 MYLK4 388 Myosin light chain kinase family member 4; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000274673 FAM217A 508 Protein FAM217A; Family with sequence similarity 217 member A; Belongs to the FAM217 family 9606.ENSP00000274695 CDKAL1 579 Threonylcarbamoyladenosine tRNA methylthiotransferase; Catalyzes the methylthiolation of N6- threonylcarbamoyladenosine (t(6)A), leading to the formation of 2- methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine; Belongs to the methylthiotransferase family. CDKAL1 subfamily 9606.ENSP00000274710 PSD2 771 Pleckstrin and Sec7 domain containing 2 9606.ENSP00000274711 LRRTM2 516 Leucine-rich repeat transmembrane neuronal protein 2; Involved in the development and maintenance of excitatory synapse in the vertebrate nervous system. Regulates surface expression of AMPA receptors and instructs the development of functional glutamate release sites. Acts as a ligand for the presynaptic receptors NRXN1-A and NRXN1-B (By similarity) 9606.ENSP00000274712 ZMAT2 199 Zinc finger matrin-type 2; Spliceosomal B complex 9606.ENSP00000274721 GFRA3 400 GDNF family receptor alpha-3; Receptor for the glial cell line-derived neurotrophic factor, ARTN (artemin). Mediates the artemin-induced autophosphorylation and activation of the RET receptor tyrosine kinase; Belongs to the GDNFR family 9606.ENSP00000274764 HIST1H2BA 127 Histone H2B type 1-A; Variant histone specifically required to direct the transformation of dissociating nucleosomes to protamine in male germ cells (By similarity). Entirely replaces classical histone H2B prior nucleosome to protamine transition and probably acts as a nucleosome dissociating factor that creates a more dynamic chromatin, facilitating the large-scale exchange of histones (By similarity). Core component of nucleosome (By similarity). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template (By [...] 9606.ENSP00000274766 KAAG1 84 Kidney associated antigen 1 9606.ENSP00000274773 TRIM7 511 E3 ubiquitin-protein ligase TRIM7; E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination and stabilization of the JUN coactivator RNF187 in response to growth factor signaling via the MEK/ERK pathway, thereby regulating JUN transactivation and cellular proliferation; Belongs to the TRIM/RBCC family 9606.ENSP00000274787 HIGD2A 106 HIG1 domain family member 2A, mitochondrial; Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes 9606.ENSP00000274793 PLA2G7 441 Platelet-activating factor acetylhydrolase; Modulates the action of platelet-activating factor (PAF) by hydrolyzing the sn-2 ester bond to yield the biologically inactive lyso-PAF. Has a specificity for substrates with a short residue at the sn-2 position. It is inactive against long-chain phospholipids; Phospholipases 9606.ENSP00000274811 RNF44 432 Ring finger protein 44 9606.ENSP00000274813 MUT 750 Methylmalonyl-CoA mutase, mitochondrial; Involved in the degradation of several amino acids, odd- chain fatty acids and cholesterol via propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species; Belongs to the methylmalonyl-CoA mutase family 9606.ENSP00000274849 ABT1 272 Activator of basal transcription 1; Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity); Belongs to the ESF2/ABP1 family 9606.ENSP00000274853 PPP1R18 613 Phostensin; Isoform 1: May target protein phosphatase 1 to F-actin cytoskeleton 9606.ENSP00000274938 SCUBE3 993 Signal peptide, CUB and EGF-like domain-containing protein 3; Binds to TGFBR2 and activates TGFB signaling. In lung cancer cells, could serve as an endogenous autocrine and paracrine ligand of TGFBR2, which could regulate TGFBR2 signaling and hence modulate epithelial-mesenchymal transition and cancer progression 9606.ENSP00000274963 FGD2 655 FYVE, RhoGEF and PH domain-containing protein 2; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5- trisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3- monophosphate (By similarity); Pleckstrin homology domain containing 9606.ENSP00000274979 ANO7 933 Anoctamin-7; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium- activated chloride channel (CaCC) activity. May play a role in cell-cell interactions; Anoctamins 9606.ENSP00000275015 NFKBIE 500 NF-kappa-B inhibitor epsilon; Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes 9606.ENSP00000275016 CYP39A1 469 24-hydroxycholesterol 7-alpha-hydroxylase; Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha- hydroxylated product; Cytochrome P450 family 39 9606.ENSP00000275034 PHIP 1821 PH-interacting protein; Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti- apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization; Bromodomain containing 9606.ENSP00000275053 MMS22L 1243 Protein MMS22-like; Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork- associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA 9606.ENSP00000275072 PM20D2 436 Peptidase M20 domain containing 2 9606.ENSP00000275162 CLVS2 327 Clavesin-2; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) 9606.ENSP00000275198 TAAR6 345 Trace amine-associated receptor 6; Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood 9606.ENSP00000275200 TAAR8 342 Trace amine-associated receptor 8; Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood 9606.ENSP00000275216 TAAR1 339 Trace amine-associated receptor 1; Receptor for trace amines, including beta- phenylethylamine (b-PEA), p-tyramine (p-TYR), octopamine and tryptamine, with highest affinity for b-PEA and p-TYR. Unresponsive to classical biogenic amines, such as epinephrine and histamine and only partially activated by dopamine and serotonin. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained sp [...] 9606.ENSP00000275227 SLC18B1 456 MFS-type transporter SLC18B1; Solute carrier family 18 member B1 9606.ENSP00000275230 SLC2A12 617 Solute carrier family 2, facilitated glucose transporter member 12; Facilitative glucose transporter; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily 9606.ENSP00000275300 SLC22A3 556 Solute carrier family 22 member 3; Mediates potential-dependent transport of a variety of organic cations. May play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family 9606.ENSP00000275358 VWDE 1590 Von Willebrand factor D and EGF domains 9606.ENSP00000275364 GNA12 381 Guanine nucleotide-binding protein subunit alpha-12; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins. Promotes tumor cell invasion and metastasis by activating RhoA/ROCK sign [...] 9606.ENSP00000275428 GGCT 188 Gamma-glutamylcyclotransferase; Catalyzes the formation of 5-oxoproline from gamma- glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis; Belongs to the gamma-glutamylcyclotransferase family 9606.ENSP00000275461 FERD3L 166 Fer3-like protein; Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000275493 EGFR 1210 Epidermal growth factor receptor; Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. Known ligands include EGF, TGFA/TGF-alpha, amphiregulin, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF. Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates [...] 9606.ENSP00000275517 CDCA5 252 Sororin; Regulator of sister chromatid cohesion in mitosis stabilizing cohesin complex association with chromatin. May antagonize the action of WAPL which stimulates cohesin dissociation from chromatin. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Required for efficient DNA double-stranded break repair; Belongs to the sororin family 9606.ENSP00000275525 IGFBP1 259 Insulin-like growth factor-binding protein 1; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration 9606.ENSP00000275532 KCTD7 289 BTB/POZ domain-containing protein KCTD7; May be involved in the control of excitability of cortical neurons 9606.ENSP00000275560 SSC4D 575 Scavenger receptor cysteine-rich domain-containing group B protein; Scavenger receptor cysteine rich family member with 4 domains 9606.ENSP00000275603 CCT6A 531 T-complex protein 1 subunit zeta; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin; Belongs to the TCP-1 chaperonin family 9606.ENSP00000275730 SLC12A9 914 Solute carrier family 12 member 9; May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function; Solute carriers 9606.ENSP00000275732 GIGYF1 1035 GRB10-interacting GYF protein 1; May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling. May increase IGF1 receptor phosphorylation under IGF1 stimulation as well as phosphorylation of IRS1 and SHC1 (By similarity); Belongs to the GIGYF family 9606.ENSP00000275764 STRA8 330 Stimulated by retinoic acid gene 8 protein homolog; Meiosis-inducer required for the transition into meiosis for both female and male germ cells. In female germ cells, required for premeiotic DNA replication and subsequent events in meiotic prophase. During spermatogenesis, next to its role in meiotic initiation, promotes (but is not required for) spermatogonial differentiation. Can associate with DNA (possibly in an indirect manner), and in vitro can activate DNA transcription (By similarity) 9606.ENSP00000275766 ZC3HAV1L 300 Zinc finger CCCH-type containing, antiviral 1 like 9606.ENSP00000275767 TMEM140 185 Transmembrane protein 140 9606.ENSP00000275815 EPHA1 976 Ephrin type-A receptor 1; Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment t [...] 9606.ENSP00000275820 NOM1 860 Nucleolar MIF4G domain-containing protein 1; Plays a role in targeting PPP1CA to the nucleolus; Protein phosphatase 1 regulatory subunits 9606.ENSP00000275884 DENND2A 1009 DENN domain-containing protein 2A; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form. May play a role in late endosomes back to trans-Golgi network/TGN transport; DENN/MADD domain containing 9606.ENSP00000275954 TMEM47 181 Transmembrane protein 47; Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity); Belongs to the TMEM47 family 9606.ENSP00000276052 CDK16 570 Cyclin-dependent kinase 16; Protein kinase that plays a role in vesicle-mediated transport processes and exocytosis. Regulates GH1 release by brain neurons. Phosphorylates NSF, and thereby regulates NSF oligomerization. Required for normal spermatogenesis. Regulates neuron differentiation and dendrite development (By similarity). Plays a role in the regulation of insulin secretion in response to changes in blood glucose levels. Can phosphorylate CCNY at 'Ser- 336' (in vitro); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily 9606.ENSP00000276055 CHST7 486 Carbohydrate sulfotransferase 7; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N- acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1- [...] 9606.ENSP00000276062 NDUFB11 163 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000276066 RAB41 221 Ras-related protein Rab-41; Required for normal Golgi ribbon organization and ER-to- Golgi trafficking; RAB, member RAS oncogene GTPases 9606.ENSP00000276077 GPR174 333 Probable G-protein coupled receptor 174; Putative receptor for purines coupled to G-proteins; G protein-coupled receptors, Class A orphans 9606.ENSP00000276079 NONO 471 Non-POU domain-containing octamer-binding protein; DNA- and RNA binding protein, involved in several nuclear processes. Binds the conventional octamer sequence in double-stranded DNA. Also binds single-stranded DNA and RNA at a site independent of the duplex site. Involved in pre-mRNA splicing, probably as a heterodimer with SFPQ. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. Together with PSPC1, required for the formation of nuclear paraspeckles. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclea [...] 9606.ENSP00000276127 CPXCR1 301 CPX chromosome region, candidate 1 9606.ENSP00000276173 RIPPLY1 151 Protein ripply1; Plays a role in somitogenesis. Essential for transcriptional repression of the segmental patterning genes, thus terminating the segmentation program in the presomitic mesoderm, and also required for the maintenance of rostrocaudal polarity in somites (By similarity); Belongs to the ripply family 9606.ENSP00000276185 FRMPD3 1810 FERM and PDZ domain containing 3 9606.ENSP00000276198 HTR2C 458 5-hydroxytryptamine receptor 2C; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including ergot alkaloid derivatives, 1- 2,5,-dimethoxy-4-iodophenyl-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathway [...] 9606.ENSP00000276201 UPF3B 483 Regulator of nonsense transcripts 3B; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2- UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon- [...] 9606.ENSP00000276202 DOCK11 2073 Dedicator of cytokinesis protein 11; Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formation, MZ B-cell number and marginal metallophilic macrophages morphology. Facilitates filopodia formation through the activation of CDC42; Belongs to the DOCK family 9606.ENSP00000276211 ARHGAP36 547 Rho GTPase-activating protein 36; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state 9606.ENSP00000276218 GPR119 335 Glucose-dependent insulinotropic receptor; Receptor for the endogenous fatty-acid ethanolamide oleoylethanolamide (OEA) and lysophosphatidylcholine (LPC). Functions as a glucose-dependent insulinotropic receptor. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Seems to act through a G(s) mediated pathway; G protein-coupled receptors, Class A orphans 9606.ENSP00000276241 CT55 264 Cancer/testis antigen 55 9606.ENSP00000276282 MFHAS1 1052 Malignant fibrous histiocytoma amplified sequence 1; Roco domain containing 9606.ENSP00000276297 DLC1 1528 Rho GTPase-activating protein 7; Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality 9606.ENSP00000276390 ATP6V1B2 511 V-type proton ATPase subunit B, brain isoform; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the ATPase alpha/beta chains family 9606.ENSP00000276410 CHRNA6 494 Neuronal acetylcholine receptor subunit alpha-6; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 6/CHRNA6 sub-subfamily 9606.ENSP00000276414 GNRH1 92 Progonadoliberin-1; Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones; Endogenous ligands 9606.ENSP00000276416 BIN3 253 Bridging integrator 3; Involved in cytokinesis and septation where it has a role in the localization of F-actin; N-BAR domain containing 9606.ENSP00000276420 DOK2 412 Docking protein 2; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation (By similarity) 9606.ENSP00000276431 TNFRSF10B 440 Tumor necrosis factor receptor superfamily member 10B; Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis; CD molecules 9606.ENSP00000276440 DOCK5 1870 Dedicator of cytokinesis protein 5; Guanine nucleotide exchange factor (GEF) for Rho and Rac. GEF proteins activate small GTPases by exchanging bound GDP for free GTP (By similarity). Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen; DOCK C2 domain containing 9606.ENSP00000276449 STAR 285 Steroidogenic acute regulatory protein, mitochondrial; Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone; StAR related lipid transfer domain containing 9606.ENSP00000276461 ERLIN2 339 Erlin-2; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1. Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex 9606.ENSP00000276480 ST18 1047 Suppression of tumorigenicity 18 protein; Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5'-AAAGTTT-3' separated by 2-9 nucleotides. Represses basal transcription activity from target promoters (By similarity). Inhibits colony formation in cultured breast cancer cells; Zinc fingers C2H2C-type 9606.ENSP00000276533 GINS4 223 DNA replication complex GINS protein SLD5; The GINS complex plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS4 is important for GINS complex assembly. GINS complex seems to bind preferentially to single-stranded DNA 9606.ENSP00000276569 ARMC1 282 Armadillo repeat containing 1 9606.ENSP00000276570 DNAJC5B 199 DnaJ heat shock protein family member C5 beta 9606.ENSP00000276571 CRH 196 Corticoliberin; Hormone regulating the release of corticotropin from pituitary gland (By similarity). Induces NLRP6 in intestinal epithelial cells, hence may influence gut microbiota profile (By similarity); Endogenous ligands 9606.ENSP00000276585 MRPS28 187 Mitochondrial ribosomal protein S28; Belongs to the bacterial ribosomal protein bS1 family 9606.ENSP00000276590 LACTB2 288 Endoribonuclease LACTB2; Endoribonuclease; cleaves preferentially 3' to purine- pyrimidine dinucleotide motifs in single-stranded RNA. The cleavage product contains a free 3' -OH group. Has no activity with double-stranded RNA or DNA. Required for normal mitochondrial function and cell viability; Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family 9606.ENSP00000276594 PRDM14 571 PR domain zinc finger protein 14; Transcription factor that has both positive and negative roles on transcription. Required for the maintenance of emryonic stem cell identity and the reacquisition of pluripotency in somatic cells. May play an essential role in germ cell development at 2 levels: the reacquisition of potential pluripotency, including SOX2 up-regulation, and successful epigenetic reprogramming, characterized by EHMT1 repression. Its association with CBFA2T2 is required for the functions in pluripotency and germ cell formation (By similarity). Directly up-regulates the exp [...] 9606.ENSP00000276603 TERF1 439 Telomeric repeat-binding factor 1; Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double- stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathway [...] 9606.ENSP00000276616 PSKH2 385 Protein serine kinase H2 9606.ENSP00000276651 DPYS 519 Dihydropyrimidinase; Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6- dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate 9606.ENSP00000276654 LRP12 859 Low-density lipoprotein receptor-related protein 12; Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor; Belongs to the LDLR family 9606.ENSP00000276659 RSPO2 243 R-spondin-2; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Probably also acts as a ligand for frizzled and LRP r [...] 9606.ENSP00000276689 NDUFB9 179 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000276692 TATDN1 297 Putative deoxyribonuclease TATDN1; Putative deoxyribonuclease; Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family 9606.ENSP00000276704 C8orf76 380 Uncharacterized protein C8orf76; Chromosome 8 open reading frame 76 9606.ENSP00000276708 GSDMC 508 Gasdermin-C; The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores. The physiological relevance of this observation is unknown (Probable); Gasdermins 9606.ENSP00000276816 ZNF16 682 Zinc finger protein 16; Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Plays also a role as an inhibitor of cell apoptosis; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000276893 UHRF2 802 E3 ubiquitin-protein ligase UHRF2; E3 ubiquitin-protein ligase that is an intermolecular hub protein in the cell cycle network. Through cooperative DNA and histone binding, may contribute to a tighter epigenetic control of gene expression in differentiated cells. Ubiquitinates cyclins, CCND1 and CCNE1, in an apparently phosphorylation-independent manner and induces G1 arrest. Also ubiquitinates PCNP leading to its degradation by the proteasome. E3 SUMO-, but not ubiquitin-, protein ligase for ZNF131; PHD finger proteins 9606.ENSP00000276914 PLIN2 437 Perilipin-2; May be involved in development and maintenance of adipose tissue; Perilipins 9606.ENSP00000276925 CDKN2B 138 Cyclin-dependent kinase 4 inhibitor B; Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family 9606.ENSP00000276927 IFNA1 189 Interferon alpha-1/13; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family 9606.ENSP00000276943 IFNK 207 Interferon kappa; May play a role in the regulation of immune cell function. Cytokine that imparts cellular protection against viral infection in a species-specific manner. Activates the interferon- stimulated response element signaling pathway. It is able to directly modulate cytokine release from monocytes and dendritic cells. Binds heparin 9606.ENSP00000277010 SIGMAR1 223 Sigma non-opioid intracellular receptor 1; Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. [...] 9606.ENSP00000277120 NTRK2 838 BDNF/NT-3 growth factors receptor; Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity. Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin- 4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2. Upon ligand-binding, undergoes homodimerization, autophosphorylation and activation. Recruits [...] 9606.ENSP00000277165 FAM120A 1118 Constitutive coactivator of PPAR-gamma-like protein 1; May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous- type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses 9606.ENSP00000277216 OR13C4 318 Olfactory receptor 13C4; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000277225 ZNF462 2506 Zinc finger protein 462; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000277309 OR1K1 316 Olfactory receptor 1K1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000277458 ASB6 421 Ankyrin repeat and SOCS box protein 6; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Ankyrin repeat domain containing 9606.ENSP00000277517 IDI2 227 Isopentenyl-diphosphate delta-isomerase 2; Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP) 9606.ENSP00000277526 LCN9 176 Epididymal-specific lipocalin-9; Lipocalin 9; Lipocalins 9606.ENSP00000277540 DPH7 452 Diphthine methyltransferase; Catalyzes the demethylation of diphthine methyl ester to form diphthine, an intermediate diphthamide biosynthesis, a post- translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP- ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta); WD repeat domain containing 9606.ENSP00000277541 NOTCH1 2555 Neurogenic locus notch homolog protein 1; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4+ [...] 9606.ENSP00000277554 NACC2 587 Nucleus accumbens-associated protein 2; Functions as a transcriptional repressor through its association with the NuRD complex. Recruits the NuRD complex to the promoter of MDM2, leading to the repression of MDM2 transcription and subsequent stability of p53/TP53; BEN domain containing 9606.ENSP00000277570 PROSER2 435 Proline and serine rich 2 9606.ENSP00000277575 USP6NL 845 USP6 N-terminal-like protein; Acts as a GTPase-activating protein for RAB5A and RAB43. Involved in receptor trafficking. In complex with EPS8 inhibits internalization of EGFR. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. Required for structural integrity of the Golgi complex 9606.ENSP00000277632 FAM188A 445 Ubiquitin carboxyl-terminal hydrolase MINDY-3; Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins 9606.ENSP00000277746 NRBF2 287 Nuclear receptor-binding factor 2; May modulate transcriptional activation by target nuclear receptors. Can act as transcriptional activator (in vitro) 9606.ENSP00000277865 GLUD1 558 Glutamate dehydrogenase 1, mitochondrial; Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity); Belongs to the Glu/Leu/Phe/Val dehydrogenases family 9606.ENSP00000277895 ABLIM1 778 Actin-binding LIM protein 1; May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance; LIM domain containing 9606.ENSP00000277903 HABP2 560 Hyaluronan-binding protein 2; Cleaves the alpha-chain at multiple sites and the beta- chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro- urokinase) to the active two chain form. Activates coagulation factor VII. May function as a tumor suppressor negatively regulating cell proliferation and cell migration 9606.ENSP00000277942 NPFFR1 430 Neuropeptide FF receptor 1; Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system 9606.ENSP00000278025 FUOM 134 Fucose mutarotase; Involved in the interconversion between alpha- and beta- L-fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O- glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition proce [...] 9606.ENSP00000278060 PAOX 511 Peroxisomal N(1)-acetyl-spermine/spermidine oxidase; Flavoenzyme which catalyzes the oxidation of N(1)- acetylspermine to spermidine and is thus involved in the polyamine back-conversion. Can also oxidize N(1)-acetylspermidine to putrescine. Substrate specificity: N(1)-acetylspermine = N(1)- acetylspermidine > N(1),N(12)-diacylspermine >> spermine. Does not oxidize spermidine. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs; Belongs to the flavin m [...] 9606.ENSP00000278070 PPRC1 1664 Peroxisome proliferator-activated receptor gamma coactivator-related protein 1; Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes; RNA binding motif containing 9606.ENSP00000278071 ITPRIP 547 Inositol 1,4,5-trisphosphate receptor-interacting protein; Enhances Ca(2+)-mediated inhibition of inositol 1,4,5- triphosphate receptor (ITPR) Ca(2+) release; Belongs to the ITPRIP family 9606.ENSP00000278193 LIN7C 197 Protein lin-7 homolog C; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...] 9606.ENSP00000278198 LRRC4C 640 Leucine-rich repeat-containing protein 4C; May promote neurite outgrowth of developing thalamic neurons; I-set domain containing 9606.ENSP00000278200 IMMP1L 166 Mitochondrial inner membrane protease subunit 1; Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO 9606.ENSP00000278222 SAA4 130 Serum amyloid A-4 protein; Major acute phase reactant. Apolipoprotein of the HDL complex; Belongs to the SAA family 9606.ENSP00000278243 PGAP2 315 Post-GPI attachment to proteins factor 2; Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface (By similarity) 9606.ENSP00000278282 SCGB1A1 91 Uteroglobin; Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2; Secretoglobins 9606.ENSP00000278314 ZNF214 606 Zinc finger protein 214; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000278317 TNNT3 258 Troponin T, fast skeletal muscle; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity 9606.ENSP00000278319 ZNF215 517 Zinc finger protein 215; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000278353 HSD17B12 312 Very-long-chain 3-oxoacyl-CoA reductase; Catalyzes the second of the four reactions of the long- chain fatty acids elongation cycle. This endoplasmic reticulum- bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3- ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of memb [...] 9606.ENSP00000278379 SLC1A2 574 Excitatory amino acid transporter 2; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate. Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport. Essential for the rapid removal of released glutamate from the synaptic cleft, and for terminatin [...] 9606.ENSP00000278407 SERPING1 500 Plasma protease C1 inhibitor; Activation of the C1 complex is under control of the C1- inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein; Serpin peptidase inhibitors 9606.ENSP00000278409 OR5F1 314 Olfactory receptor 5F1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000278412 SSRP1 709 FACT complex subunit SSRP1; Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment o [...] 9606.ENSP00000278422 TMX2 296 Thioredoxin related transmembrane protein 2; Protein disulfide isomerases 9606.ENSP00000278426 SLC43A1 559 Large neutral amino acids transporter small subunit 3; Sodium-independent, high affinity transport of large neutral amino acids. Has narrower substrate selectivity compared to SLC7A5 and SLC7A8 and mainly transports branched-chain amino acids and phenylalanine. Plays a role in the development of human prostate cancer, from prostatic intraepithelial neoplasia to invasive prostate cancer; Solute carriers 9606.ENSP00000278483 C11orf73 197 Protein Hikeshi; Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus; Belongs to the OPI10 family 9606.ENSP00000278505 ENDOD1 500 Endonuclease domain-containing 1 protein; May act as a DNase and a RNase 9606.ENSP00000278520 CCDC82 544 Coiled-coil domain containing 82 9606.ENSP00000278550 TENM4 2769 Teneurin-4; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Plays a role in the establishment of the anterior-posterior axis during gastrulation. Regulates the differentiation and cellular process formation of oligodendrocytes and myelination of small- diameter axons in the central nervous system (CNS). Promotes activation of focal adhesion kinase. May function as a cellular signal transducer (By similarity); Belongs to the tenascin family. Teneurin subfamily 9606.ENSP00000278559 CAPN5 640 Calpain-5; Calcium-regulated non-lysosomal thiol-protease; C2 domain containing 9606.ENSP00000278568 PAK1 553 Serine/threonine-protein kinase PAK 1; Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes. Can directly phosphorylate BAD and protects cells against apoptosis. Activated by interaction with CDC42 and RAC1. Functions as GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway. Phosphorylates and activates MAP2K1, and thereby media [...] 9606.ENSP00000278572 RPS3 259 40S ribosomal protein S3; Involved in translation as a component of the 40S small ribosomal subunit. Has endonuclease activity and plays a role in repair of damaged DNA. Cleaves phosphodiester bonds of DNAs containing altered bases with broad specificity and cleaves supercoiled DNA more efficiently than relaxed DNA. Displays high binding affinity for 7,8-dihydro-8-oxoguanine (8-oxoG), a common DNA lesion caused by reactive oxygen species (ROS). Has also been shown to bind with similar affinity to intact and damaged DNA. Stimulates the N-glycosylase activity of the base excision protein [...] 9606.ENSP00000278590 ZC3H12C 883 Probable ribonuclease ZC3H12C; May function as RNase and regulate the levels of target RNA species; Belongs to the ZC3H12 family 9606.ENSP00000278601 C11orf52 123 Uncharacterized protein C11orf52; Chromosome 11 open reading frame 52 9606.ENSP00000278612 NPAT 1427 Protein NPAT; Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters; Belongs to the NPAT family 9606.ENSP00000278616 ATM 3056 Serine-protein kinase ATM; Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and mon [...] 9606.ENSP00000278618 AASDHPPT 309 L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase; Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'- phosphopantetheine moiety from coenzyme A to a serine residue of a broad range of acceptors, such as the acyl carrier domain of FASN 9606.ENSP00000278671 LAMTOR1 161 Ragulator complex protein LAMTOR1; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. LAMTOR1 is directly responsible for anchoring the Ragulato [...] 9606.ENSP00000278715 HMBS 361 Porphobilinogen deaminase; Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps; Belongs to the HMBS family 9606.ENSP00000278742 ST14 855 Suppressor of tumorigenicity 14 protein; Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site. Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing; Serine proteases 9606.ENSP00000278779 C20orf78 151 Putative uncharacterized protein C20orf78; Chromosome 20 open reading frame 78 9606.ENSP00000278780 OVOL2 275 Transcription factor Ovo-like 2; Zinc-finger transcription repressor factor. Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1. Important for the correct development of primordial germ cells in embryos (By similarity); Belongs to the krueppel C2H2-type zinc-finger prot [...] 9606.ENSP00000278823 MTA2 668 Metastasis-associated protein MTA2; May be involved in the regulation of gene expression as repressor and activator. The repression might be related to covalent modification of histone proteins; GATA zinc finger domain containing 9606.ENSP00000278826 TMEM138 162 Transmembrane protein 138; Required for ciliogenesis 9606.ENSP00000278829 FADS3 445 Fatty acid desaturase 3 9606.ENSP00000278833 ROM1 351 Rod outer segment membrane protein 1; May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis; Tetraspanins 9606.ENSP00000278836 MYRF 1151 Myelin regulatory factor; Myelin regulatory factor: Constitutes a precursor of the transcription factor. Mediates the autocatalytic cleavage that releases the Myelin regulatory factor, N-terminal component that specifically activates transcription of central nervous system (CNS) myelin genes 9606.ENSP00000278840 FADS2 444 Fatty acid desaturase 2; Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma- linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It cat [...] 9606.ENSP00000278853 ZP1 638 Zona pellucida sperm-binding protein 1; The mammalian zona pellucida, which mediates species- specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida 9606.ENSP00000278855 OOSP2 158 Oocyte secreted protein 2 9606.ENSP00000278865 MS4A3 214 Membrane-spanning 4-domains subfamily A member 3; Hematopoietic modulator for the G1-S cell cycle transition. Modulates the level of phosphorylation of cyclin- dependent kinase 2 (CDK2) through its direct binding to cyclin- dependent kinase inhibitor 3 (CDKN3/KAP); Belongs to the MS4A family 9606.ENSP00000278882 FRG1B 182 FSHD region gene 1 family, member B 9606.ENSP00000278886 NINL 1382 Ninein-like protein; Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis; EF-hand domain containing 9606.ENSP00000278888 MS4A2 244 High affinity immunoglobulin epsilon receptor subunit beta; High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy; Belongs to the MS4A family 9606.ENSP00000278903 EI24 340 Etoposide-induced protein 2.4 homolog; Acts as a negative growth regulator via p53-mediated apoptosis pathway. Regulates formation of degradative autolysosomes during autophagy (By similarity); Belongs to the EI24 family 9606.ENSP00000278919 FEZ1 392 Fasciculation and elongation protein zeta-1; May be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. Able to restore partial locomotion and axonal fasciculation to C.elegans unc-76 mutants in germline transformation experiments. May participate in the transport of mitochondria and other cargos along microtubules; Belongs to the zygin family 9606.ENSP00000278927 ESAM 390 Endothelial cell-selective adhesion molecule; Can mediate aggregation most likely through a homophilic molecular interaction; IgCAM CXADR-related subfamily 9606.ENSP00000278935 CEP164 1460 Centrosomal protein of 164 kDa; Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1 9606.ENSP00000278937 MPZL2 215 Myelin protein zero-like protein 2; Mediates homophilic cell-cell adhesion; Belongs to the myelin P0 protein family 9606.ENSP00000278947 SCN2B 215 Sodium channel subunit beta-2; Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity); Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family 9606.ENSP00000278949 MPZL3 235 Myelin protein zero-like protein 3; Mediates homophilic cell-cell adhesion; Belongs to the myelin P0 protein family 9606.ENSP00000278980 COMMD7 200 COMM domain-containing protein 7; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. Associates with the NF-kappa-B complex and suppresses its transcriptional activity 9606.ENSP00000279022 MYL9 172 Myosin regulatory light polypeptide 9; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion; EF-hand domain containing 9606.ENSP00000279024 KIAA1755 1200 Uncharacterized protein KIAA1755; KIAA1755 9606.ENSP00000279027 SLC13A3 602 Solute carrier family 13 member 3; High-affinity sodium-dicarboxylate cotransporter that accepts a range of substrates with 4-5 carbon atoms. The stoichiometry is probably 3 Na(+) for 1 divalent succinate; Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily 9606.ENSP00000279028 OCSTAMP 566 Osteoclast stimulatory transmembrane protein; Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption. Promotes osteoclast differentiation and may play a role in the multinucleated osteoclast maturation (By similarity) 9606.ENSP00000279036 PIGT 578 GPI transamidase component PIG-T; Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates; Belongs to the PIGT family 9606.ENSP00000279058 SPINT4 99 Serine peptidase inhibitor, Kunitz type 4 9606.ENSP00000279068 LSM14B 385 Protein LSM14 homolog B; May play a role in control of mRNA translation; LSm proteins 9606.ENSP00000279101 CABLES2 478 CDK5 and ABL1 enzyme substrate 2; Unknown. Probably involved in G1-S cell cycle transition 9606.ENSP00000279146 AIP 330 AH receptor-interacting protein; May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting; FKBP prolyl isomerases 9606.ENSP00000279147 ORAOV1 137 Oral cancer overexpressed 1 9606.ENSP00000279168 GPHA2 129 Glycoprotein hormone alpha-2; Functions as a heterodimeric glycoprotein hormone with GPHB5 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism; Belongs to the glycoprotein hormones subunit alpha family 9606.ENSP00000279178 SLC22A9 553 Solute carrier family 22 member 9; Sodium-independent organic anion transporter which exhibits high specificity for sulfated conjugates of xenobiotics and steroid hormones. It is also specifically activated by 3 to 5 carbons-containing short-chain fatty acids/SCFAs, including propionate, butyrate and valerate. May operate the exchange of sulfated organic components against short-chain fatty acids/SCFAs at the sinusoidal membrane of hepatocytes; Solute carriers 9606.ENSP00000279206 NUDT22 303 Nucleoside diphosphate-linked moiety X motif 22; Nudix hydrolase family 9606.ENSP00000279227 FERMT3 667 Fermitin family homolog 3; Plays a central role in cell adhesion in hematopoietic cells. Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells. Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity); Belongs to the kindlin family 9606.ENSP00000279242 MRPL49 166 Mitochondrial ribosomal protein L49 9606.ENSP00000279249 CDC42EP2 210 Cdc42 effector protein 2; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts in a CDC42-dependent manner; Belongs to the BORG/CEP family 9606.ENSP00000279263 TM7SF2 418 Delta(14)-sterol reductase; Involved in the conversion of lanosterol to cholesterol 9606.ENSP00000279281 VPS51 782 Vacuolar protein sorting-associated protein 51 homolog; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN. Acts as component of the EARP complex [...] 9606.ENSP00000279387 PPP4C 307 Serine/threonine-protein phosphatase 4 catalytic subunit; Protein phosphatase that is involved in many processes such as microtubule organization at centrosomes, maturation of spliceosomal snRNPs, apoptosis, DNA repair, tumor necrosis factor (TNF)-alpha signaling, activation of c-Jun N-terminal kinase MAPK8, regulation of histone acetylation, DNA damage checkpoint signaling, NF-kappa-B activation and cell migration. The PPP4C- PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phospho [...] 9606.ENSP00000279392 HIRIP3 556 HIRA-interacting protein 3; May play a role in chromatin function and histone metabolism via its interaction with HIRA and histones 9606.ENSP00000279441 MMP10 476 Stromelysin-2; Can degrade fibronectin, gelatins of type I, III, IV, and V; weakly collagens III, IV, and V. Activates procollagenase; Belongs to the peptidase M10A family 9606.ENSP00000279488 DUSP6 381 Dual specificity protein phosphatase 6; Inactivates MAP kinases. Has a specificity for the ERK family. Plays an important role in alleviating chronic postoperative pain. Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia (By similarity). Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain (By similarity); Belongs to the protein-tyrosine phosphatase family [...] 9606.ENSP00000279575 PRB4 247 Basic salivary proline-rich protein 4; Proline rich protein BstNI subfamily 4 9606.ENSP00000279783 OR8K1 319 Olfactory receptor 8K1; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000279791 OR5M9 310 Olfactory receptor 5M9; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000279804 CTF1 201 Cardiotrophin-1; Induces cardiac myocyte hypertrophy in vitro. Binds to and activates the ILST/gp130 receptor; Interleukin 6 type cytokine family 9606.ENSP00000279873 ARID5B 1188 AT-rich interactive domain-containing protein 5B; Transcription coactivator that binds to the 5'-AATA[CT]- 3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2- ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride [...] 9606.ENSP00000279907 UHRF1BP1L 1464 UHRF1-binding protein 1-like; UHRF1 binding protein 1 like 9606.ENSP00000280020 KIAA1328 577 Protein hinderin; Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes 9606.ENSP00000280057 FAM124A 582 Protein FAM124A; Family with sequence similarity 124 member A; Belongs to the FAM124 family 9606.ENSP00000280082 MIA2 654 Endoplasmic reticulum export factor CTAGE5; Melanoma inhibitory activity 2; MIA family 9606.ENSP00000280097 HNMT 292 Histamine N-methyltransferase; Inactivates histamine by N-methylation. Plays an important role in degrading histamine and in regulating the airway response to histamine; Belongs to the class I-like SAM-binding methyltransferase superfamily. HNMT family 9606.ENSP00000280098 SPOPL 392 Speckle-type POZ protein-like; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, but with relatively low efficiency. Cullin-RING-based BCR (BTB-CUL3- RBX1) E3 ubiquitin-protein ligase complexes containing homodimeric SPOPL or the heterodimer formed by SPOP and SPOPL are less efficient than ubiquitin ligase complexes containing only SPOP. May function to down-regulate the activity of cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes [...] 9606.ENSP00000280154 PDCD4 469 Programmed cell death protein 4; Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Tumor suppressor. Inhibits tumor promoter-induced neoplastic transformation. Binds RNA (By similarity); Belongs to the PDCD4 family 9606.ENSP00000280155 ADRA2A 465 Alpha-2A adrenergic receptor; Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p-octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol; Adrenoceptors 9606.ENSP00000280187 GPM6A 278 Neuronal membrane glycoprotein M6-a; Involved in neuronal differentiation, including differentiation and migration of neuronal stem cells. Plays a role in neuronal plasticity and is involved in neurite and filopodia outgrowth, filopodia motility and probably synapse formation. GPM6A-induced filopodia formation involves mitogen-activated protein kinase (MAPK) and Src signaling pathways. May be involved in neuronal NGF-dependent Ca(2+) influx. May be involved in regulation of endocytosis and intracellular trafficking of G- protein-coupled receptors (GPCRs); enhances internalization and r [...] 9606.ENSP00000280190 WDR17 1322 WD repeat-containing protein 17; WD repeat domain containing 9606.ENSP00000280191 SPATA4 305 Spermatogenesis-associated protein 4; Spermatogenesis associated 4 9606.ENSP00000280200 CD226 336 CD226 antigen; Involved in intercellular adhesion, lymphocyte signaling, cytotoxicity and lymphokine secretion mediated by cytotoxic T-lymphocyte (CTL) and NK cell. Cell surface receptor for NECTIN2. Upon ligand binding, stimulates T- cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Competes with PVRIG for NECTIN2-binding; CD molecules 9606.ENSP00000280236 FSIP1 581 Fibrous sheath interacting protein 1; Belongs to the FSIP1 family 9606.ENSP00000280245 CCDC83 444 Coiled-coil domain containing 83 9606.ENSP00000280258 PRSS23 383 Serine protease 23; Belongs to the peptidase S1 family 9606.ENSP00000280295 PPP1R1C 116 Protein phosphatase 1 regulatory subunit 1C; Inhibitor of protein-phosphatase 1. Promotes cell growth and cell cycle progress at the G1/S transition. May increase cell susceptibility to TNF-induced apoptosis 9606.ENSP00000280325 C11orf53 236 Uncharacterized protein C11orf53; Chromosome 11 open reading frame 53 9606.ENSP00000280326 CCT5 541 T-complex protein 1 subunit epsilon; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin; Chaperonins 9606.ENSP00000280333 DOCK1 1865 Dedicator of cytokinesis protein 1; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen. Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 9606.ENSP00000280346 DLAT 647 Dihydrolipoamide S-acetyltransferase; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle 9606.ENSP00000280350 PIH1D2 315 PIH1 domain containing 2; Belongs to the PIH1 family 9606.ENSP00000280357 IL18 193 Interleukin-18; Augments natural killer cell activity in spleen cells and stimulates interferon gamma production in T-helper type I cells; Belongs to the IL-1 family 9606.ENSP00000280358 TEX12 123 Testis-expressed protein 12; Testis expressed 12 9606.ENSP00000280362 PTS 145 6-pyruvoyl tetrahydrobiopterin synthase; Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6- pyruvoyl tetrahydropterin; Belongs to the PTPS family 9606.ENSP00000280377 USP15 981 Ubiquitin carboxyl-terminal hydrolase 15; Hydrolase that removes conjugated ubiquitin from target proteins and regulates various pathways such as the TGF-beta receptor signaling, NF-kappa-B and RNF41/NRDP1-PRKN pathways. Acts as a key regulator of TGF-beta receptor signaling pathway, but the precise mechanism is still unclear: according to a report, acts by promoting deubiquitination of monoubiquitinated R-SMADs (SMAD1, SMAD2 and/or SMAD3), thereby alleviating inhibition of R-SMADs and promoting activation of TGF- beta target genes. According to another reports, regulates the TGF-beta [...] 9606.ENSP00000280481 FREM2 3169 FRAS1-related extracellular matrix protein 2; Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion 9606.ENSP00000280527 CRIM1 1036 Cysteine-rich motor neuron 1 protein; May play a role in CNS development by interacting with growth factors implicated in motor neuron differentiation and survival. May play a role in capillary formation and maintenance during angiogenesis. Modulates BMP activity by affecting its processing and delivery to the cell surface 9606.ENSP00000280551 SEC24D 1032 Protein transport protein Sec24D; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B. May more specifically package GPI-anchored proteins through the cargo receptor [...] 9606.ENSP00000280557 DENR 198 Density-regulated protein; May be involved in the translation of target mRNAs by scanning and recognition of the initiation codon. Involved in translation initiation; promotes recruitmnet of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role in the modulation of the translational profile of a subset of cancer-related mRNAs when recruited to the translational initiation complex by the oncogene MCTS1 9606.ENSP00000280571 RILPL2 211 RILP-like protein 2; Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines. Plays a role in cellular protein transport, including protein transport away from primary cilia. May function via activation of RAC1 and PAK1 (By similarity) 9606.ENSP00000280605 TKTL2 626 Transketolase-like protein 2; Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis; Belongs to the transketolase family 9606.ENSP00000280606 PRSS53 553 Serine protease 53; In vitro can degrade the fibrinogen alpha chain of as well as pro-urokinase-type plasminogen activator; Serine proteases 9606.ENSP00000280612 SLC7A11 501 Cystine/glutamate transporter; Sodium-independent, high-affinity exchange of anionic amino acids with high specificity for anionic form of cystine and glutamate; Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family 9606.ENSP00000280614 CCRN4L 431 Nocturnin; Circadian deadenylase which plays an important role in post-transcriptional regulation of metabolic genes under circadian control. Degrades poly(A) tails of specific target mRNAs leading to their degradation and suppression of translation. Exerts a rhythmic post-transcriptional control of genes necessary for metabolic functions including nutrient absorption, glucose/insulin sensitivity, lipid metabolism, adipogenesis, inflammation and osteogenesis. Plays an important role in favoring adipogenesis over osteoblastogenesis and acts as a key regulator of the adipogenesis/osteoge [...] 9606.ENSP00000280665 DCP1B 617 mRNA-decapping enzyme 1B; May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. May remove the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP (By similarity) 9606.ENSP00000280684 KCNA6 529 Potassium voltage-gated channel subfamily A member 6; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA6, and possibly other family members as well; [...] 9606.ENSP00000280700 NGLY1 654 Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; Specifically deglycosylates the denatured form of N- linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl- glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high- mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native prote [...] 9606.ENSP00000280701 OXSM 459 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial; May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function; Belongs to the beta-ketoacyl-ACP synthases family 9606.ENSP00000280706 LDHAL6A 332 L-lactate dehydrogenase A-like 6A; Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed 9606.ENSP00000280734 TMEM86A 240 Lysoplasmalogenase-like protein TMEM86A; Transmembrane protein 86A 9606.ENSP00000280756 TMEM263 116 Transmembrane protein 263 9606.ENSP00000280758 BTBD11 1104 Ankyrin repeat and BTB/POZ domain-containing protein BTBD11; Ankyrin repeat domain containing 9606.ENSP00000280772 ANK3 4377 Ankyrin-3; In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption; Ankyrin repeat domain containing 9606.ENSP00000280800 PLBD2 589 Putative phospholipase B-like 2; Putative phospholipase 9606.ENSP00000280871 SLC2A13 648 Proton myo-inositol cotransporter; H(+)-myo-inositol cotransporter. Can also transport related stereoisomers; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family 9606.ENSP00000280886 DIP2C 1556 Disco interacting protein 2 homolog C 9606.ENSP00000280904 DSC2 901 Desmocollin-2; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms; Desmosomal cadherins 9606.ENSP00000280979 AKAP6 2319 A-kinase anchor protein 6; Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes; A-kinase anchoring proteins 9606.ENSP00000280987 FAM177A1 236 Protein FAM177A1; Family with sequence similarity 177 member A1 9606.ENSP00000281017 TMEM18 140 Transmembrane protein 18; Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC); Belongs to the TMEM18 family 9606.ENSP00000281030 THRSP 146 Thyroid hormone-inducible hepatic protein; Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA (By similarity). May function as transcriptional coactivator. May modulate the transcription factor activity of THRB 9606.ENSP00000281031 NDUFC2 119 NADH dehydrogenase [ubiquinone] 1 subunit C2; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000281038 NARS2 477 Probable asparagine--tRNA ligase, mitochondrial; asparaginyl-tRNA synthetase 2, mitochondrial; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000281043 MYCN 464 N-myc proto-oncogene protein; Positively regulates the transcription of MYCNOS in neuroblastoma cells; Basic helix-loop-helix proteins 9606.ENSP00000281047 MSGN1 193 Mesogenin-1; Involved in specifying the paraxial, but not dorsal, mesoderm. May regulate the expression of T-box transcription factors required for mesoderm formation and differentiation (By similarity) 9606.ENSP00000281081 NUBPL 319 Iron-sulfur protein NUBPL; Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). May deliver of one or more Fe-S clusters to complex I subunits; Belongs to the Mrp/NBP35 ATP-binding proteins family 9606.ENSP00000281087 ATP6V1G3 118 V-type proton ATPase subunit G 3; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells 9606.ENSP00000281092 FER 822 Tyrosine-protein kinase Fer; Tyrosine-protein kinase that acts downstream of cell surface receptors for growth factors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, lamellipodia formation, cell adhesion, cell migration and chemotaxis. Acts downstream of EGFR, KIT, PDGFRA and PDGFRB. Acts downstream of EGFR to promote activation of NF-kappa-B and cell proliferation. May play a role in the regulation of the mitotic cell cycle. Plays a role in the insulin receptor signaling pathway and in activation of phosphatidylinositol 3-kinase. Acts downstream of [...] 9606.ENSP00000281141 CDC123 336 Cell division cycle protein 123 homolog; Required for S phase entry of the cell cycle 9606.ENSP00000281142 SCLT1 688 Sodium channel and clathrin linker 1; Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity) 9606.ENSP00000281146 C4orf33 199 UPF0462 protein C4orf33; Chromosome 4 open reading frame 33 9606.ENSP00000281154 SLC25A31 315 ADP/ATP translocase 4; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May serve to mediate energy generating and energy consuming processes in the distal flagellum, possibly as a nucleotide shuttle between flagellar glycolysis, protein phosphorylation and mechanisms of motility; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000281156 KHDRBS2 349 KH domain-containing, RNA-binding, signal transduction-associated protein 2; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin [...] 9606.ENSP00000281171 PTPRO 1216 Receptor-type tyrosine-protein phosphatase O; Possesses tyrosine phosphatase activity. Plays a role in regulating the glomerular pressure/filtration rate relationship through an effect on podocyte structure and function (By similarity); Fibronectin type III domain containing 9606.ENSP00000281172 EPS8 822 Epidermal growth factor receptor kinase substrate 8; Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac- specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and act [...] 9606.ENSP00000281182 ACAD8 415 Isobutyryl-CoA dehydrogenase, mitochondrial; Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex; Acyl-CoA dehydrogenase family 9606.ENSP00000281187 VPS26B 336 Vacuolar protein sorting-associated protein 26B; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for carg [...] 9606.ENSP00000281243 QDPR 244 Dihydropteridine reductase; The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000281282 CGNL1 1302 Cingulin-like protein 1; May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons 9606.ENSP00000281317 MMAA 418 Methylmalonic aciduria type A protein, mitochondrial; GTPase, binds and hydrolyzes GTP. Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MUT) and reactivation of the enzyme during catalysis 9606.ENSP00000281321 POU4F2 409 POU domain, class 4, transcription factor 2; DNA-binding transcriptional regulator and coregulator that recognizes and binds to the consensus octamer binding site 5'-AT[A/T]A[T/A]T[A/T]A-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor ISL1 to achieve RGC fate specification in the developing retina. Plays also a role in RGC axon formation and guidance by regulating gene expression of specific target genes. Plays a role in TNFSF11- mediated terminal [...] 9606.ENSP00000281382 PIGF 219 Phosphatidylinositol-glycan biosynthesis class F protein; Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI 9606.ENSP00000281419 ASAP2 1006 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2; Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration; Ankyrin repeat domain containing 9606.ENSP00000281437 BARX2 279 Homeobox protein BarH-like 2; Transcription factor. Binds optimally to the DNA consensus sequence 5'-YYTAATGRTTTTY-3'. May control the expression of neural adhesion molecules such as L1 or Ng-CAM during embryonic development of both the central and peripherical nervous system. May be involved in controlling adhesive processes in keratinizing epithelia (By similarity); Belongs to the BAR homeobox family 9606.ENSP00000281441 TMEM45B 275 Transmembrane protein 45B 9606.ENSP00000281453 CENPU 418 Centromere protein U; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Plays an important role in the correct PLK1 localization to the mitotic kinetochores. A scaffold protein responsible for the initial recruitment and maintenance of the kinetochore PLK1 population until its degradation. Involved in tra [...] 9606.ENSP00000281456 SLC25A4 298 ADP/ATP translocase 1; Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000281471 AMN1 258 Protein AMN1 homolog; Antagonist of mitotic exit network 1 homolog 9606.ENSP00000281474 BICD1 975 Protein bicaudal D homolog 1; Regulates coat complex coatomer protein I (COPI)- independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex; Belongs to the BicD family 9606.ENSP00000281513 NBAS 2371 Neuroblastoma-amplified sequence; Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER 9606.ENSP00000281523 ZNF385D 395 Zinc finger protein 385D 9606.ENSP00000281537 TJP1 1748 Tight junction protein ZO-1; The N-terminal may be involved in transducing a signal required for tight junction assembly, while the C-terminal may have specific properties of tight junctions. The alpha domain might be involved in stabilizing junctions. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells; Belongs to the MAGUK family 9606.ENSP00000281543 GUF1 669 Translation factor GUF1, mitochondrial; Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one- codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. LepA subfamily 9606.ENSP00000281589 PABPC3 631 Polyadenylate-binding protein 3; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Binds poly(A) with a slightly lower affinity as compared to PABPC1; RNA binding motif containing 9606.ENSP00000281623 FBXO4 387 F-box only protein 4; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes ubiquitination of CCND1 and its subsequent proteasomal degradation. Recognizes TERF1 and promotes its ubiquitination together with UBE2D1; F-boxes other 9606.ENSP00000281631 PARP8 854 poly(ADP-ribose) polymerase family member 8 9606.ENSP00000281701 NVL 856 Nuclear valosin-containing protein-like; Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT. May play a role in 60S ribosomal subunit biogenesis; Belongs to the AAA ATPase family 9606.ENSP00000281703 GLT1D1 266 Glycosyltransferase 1 domain-containing protein 1; Glycosyl transferases group 1 domain containing; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily 9606.ENSP00000281708 FBXW7 707 F-box/WD repeat-containing protein 7; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination. Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. Acts as a negative regulator of JNK signaling by binding to phosphorylated [...] 9606.ENSP00000281722 RBM46 533 Probable RNA-binding protein 46; RNA binding motif containing 9606.ENSP00000281741 TXNDC16 825 Thioredoxin domain containing 16 9606.ENSP00000281772 KANSL1L 987 KAT8 regulatory NSL complex subunit 1 like 9606.ENSP00000281806 MCHR2 340 Melanin-concentrating hormone receptor 2; Receptor for melanin-concentrating hormone, coupled to G proteins that activate phosphoinositide hydrolysis 9606.ENSP00000281821 EPHA4 986 Ephrin type-A receptor 4; Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Up [...] 9606.ENSP00000281828 FARSB 589 phenylalanyl-tRNA synthetase beta subunit; Aminoacyl tRNA synthetases, Class II 9606.ENSP00000281830 KCNE4 221 Potassium voltage-gated channel subfamily E member 4; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. May associate with KCNQ1/KVLTQ1 and inhibit potassium current; Belongs to the potassium channel KCNE family 9606.ENSP00000281834 TNFSF4 183 Tumor necrosis factor ligand superfamily member 4; Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production; CD molecules 9606.ENSP00000281871 MZT2B 158 Mitotic spindle organizing protein 2B 9606.ENSP00000281882 CFC1B 223 Cripto, FRL-1, cryptic family 1B 9606.ENSP00000281924 TMEM163 289 Transmembrane protein 163; May bind zinc and other divalent cations and recruit them to vesicular organelles 9606.ENSP00000281928 MED13L 2210 Mediator of RNA polymerase II transcription subunit 13-like; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may spe [...] 9606.ENSP00000281938 HSPB8 196 Heat shock protein beta-8; Displays temperature-dependent chaperone activity; Belongs to the small heat shock protein (HSP20) family 9606.ENSP00000281950 GEMIN6 167 Gem-associated protein 6; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] 9606.ENSP00000281961 TMEM178A 297 Transmembrane protein 178A; Acts as a negative regulator of osteoclast differentiation in basal and inflammatory conditions by regulating TNFSF11-induced Ca (2+) fluxes, thereby controlling the induction of NFATC1; Belongs to the TMEM178 family 9606.ENSP00000282003 RNF219 726 Ring finger protein 219 9606.ENSP00000282007 ZC3H13 1564 Zinc finger CCCH domain-containing protein 13; Acts as component of the WTAP complex that is involved in RNA processing and cell cycle 9606.ENSP00000282018 CYSLTR2 346 Cysteinyl leukotriene receptor 2; Receptor for cysteinyl leukotrienes. The response is mediated via a G-protein that activates a phosphatidylinositol- calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4 9606.ENSP00000282020 GRID2 1007 Glutamate receptor ionotropic, delta-2; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. Promotes synaptogenesis and mediates the D-Serine- dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the beta-NRX1-CBLN1-GRID2 triad complex; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID2 subfamily 9606.ENSP00000282026 ARL11 196 ADP-ribosylation factor-like protein 11; May play a role in apoptosis. May act as a tumor suppressor; Belongs to the small GTPase superfamily. Arf family 9606.ENSP00000282030 SETBP1 1596 SET binding protein 1 9606.ENSP00000282032 ARL14EP 260 ARL14 effector protein; Through its interaction with ARL14 and MYO1E, may connect MHC class II-containing cytoplasmic vesicles to the actin network and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells 9606.ENSP00000282041 EPG5 2579 Ectopic P granules protein 5 homolog; Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo 9606.ENSP00000282058 HAUS1 278 HAUS augmin-like complex subunit 1; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex 9606.ENSP00000282074 SPC25 224 Kinetochore protein Spc25; Acts as a component of the essential kinetochore- associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules; Belongs to the SPC25 family 9606.ENSP00000282091 PTH 115 Parathyroid hormone; PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2- deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells; Belongs to the parathyroid hormone family 9606.ENSP00000282096 PDE3B 1112 cGMP-inhibited 3',5'-cyclic phosphodiesterase B; Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. May play a role in fat metabolism. Regulates cAMP binding of RAPGEF3. Through simultaneous binding to RAPGEF3 and PIK3R6 assembles a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis; Phosphodiesterases 9606.ENSP00000282111 TCF7L1 588 Transcription factor 7-like 1; Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity). Down-regulates NQO1, leading to increased mitomycin c resistance; TCF/LEF transcription factor family 9606.ENSP00000282141 CRYGC 174 Gamma-crystallin C; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family 9606.ENSP00000282146 KCNK13 408 Potassium channel subfamily K member 13; Potassium channel displaying weak inward rectification in symmetrical K(+) solution; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family 9606.ENSP00000282185 ATG10 220 Ubiquitin-like-conjugating enzyme ATG10; E2-like enzyme involved in autophagy. Acts as an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5. ATG12 conjugation to ATG5 is required for autophagy. Likely serves as an ATG5-recognition molecule. Not involved in ATG12 conjugation to ATG3 (By similarity). Plays a role in adenovirus-mediated cell lysis; Belongs to the ATG10 family 9606.ENSP00000282226 FAM151B 276 Protein FAM151B; Family with sequence similarity 151 member B 9606.ENSP00000282249 GUCY1A2 763 Guanylate cyclase soluble subunit alpha-2; Has guanylyl cyclase on binding to the beta-1 subunit 9606.ENSP00000282251 CWF19L2 894 CWF19-like protein 2; CWF19 like 2, cell cycle control; Belongs to the CWF19 family 9606.ENSP00000282272 ANKRD44 993 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates; Ankyrin repeat domain containing 9606.ENSP00000282276 MARS2 593 Methionine--tRNA ligase, mitochondrial; methionyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000282282 ZNF547 402 Zinc finger protein 547; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000282292 ZNF773 442 Zinc finger protein 773; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000282296 ZNF551 670 Zinc finger protein 551; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000282308 ZNF256 627 Zinc finger protein 256; Transcriptional repressor that plays a role in cell proliferation. Requires TRIM28 for its activity; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000282326 ZSCAN1 408 Zinc finger and SCAN domain-containing protein 1; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000282344 USP12 370 Ubiquitin carboxyl-terminal hydrolase 12; Deubiquitinating enzyme. Has almost no deubiquitinating activity by itself and requires the interaction with WDR20 and WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2. In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability; Belongs to the peptidase C19 family. USP12/USP46 subfamily 9606.ENSP00000282356 CAMK4 473 Calcium/calmodulin-dependent protein kinase type IV; Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK4 signaling cascade and regulates, mainly by phosphorylation, the activity of several transcription activators, such as CREB1, MEF2D, JUN and RORA, which play pivotal roles in immune response, inflammation, and memory consolidation. In the thymus, regulates the CD4(+)/CD8(+) double positive thymocytes selection threshold during T-cell ontogeny. In CD4 memory T-cells, is required to link T-cell antigen receptor (TCR) signaling to the productio [...] 9606.ENSP00000282369 TRIM36 728 E3 ubiquitin-protein ligase TRIM36; E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation. May play a role in the acrosome reaction and fertilization; Belongs to the TRIM/RBCC family 9606.ENSP00000282382 ENSG00000251201 404 Transmembrane emp24 domain-containing protein 7; TMED7-TICAM2 readthrough 9606.ENSP00000282388 ZFP36L2 494 mRNA decay activator protein ZFP36L2; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promote [...] 9606.ENSP00000282397 FLT1 1338 Vascular endothelial growth factor receptor 1; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFB and PGF, and plays an essential role in the development of embryonic vasculature, the regulation of angiogenesis, cell survival, cell migration, macrophage function, chemotaxis, and cancer cell invasion. May play an essential role as a negative regulator of embryonic angiogenesis by inhibiting excessive proliferation of endothelial cells. Can promote endothelial cell proliferation, survival and angiogenesis in adulthood. Its function in promoting cell proliferati [...] 9606.ENSP00000282406 PLEKHH2 1493 Pleckstrin homology domain-containing family H member 2; In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia; FERM domain containing 9606.ENSP00000282412 PPM1B 479 Protein phosphatase 1B; Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2. Inhibits TBK1-mediated antiviral signaling by dephosphorylating it at 'Ser- 172'. Plays an important role in the termination of TNF-alpha- mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB; Belongs to the PP2C family 9606.ENSP00000282466 IGSF10 2623 Immunoglobulin superfamily member 10; Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons) (By similarity). May be involved in the maintenance of osteochondroprogenitor cells pool (By similarity); I-set domain containing 9606.ENSP00000282486 MBNL1 388 Muscleblind-like protein 1; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron [...] 9606.ENSP00000282499 GRIA4 902 Glutamate receptor 4; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of [...] 9606.ENSP00000282507 UGT3A2 523 UDP-glucuronosyltransferase 3A2; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity); Belongs to the UDP-glycosyltransferase family 9606.ENSP00000282516 NIPBL 2804 Nipped-B-like protein; Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others; Armadillo-like helical domain containing 9606.ENSP00000282538 GADL1 521 Acidic amino acid decarboxylase GADL1; May catalyze the decarboxylation of aspartate, cysteine sulfinic acid, and cysteic acid to beta-alanine, hypotaurine and taurine, respectively. Does not exhibit any decarboxylation activity toward glutamate; Belongs to the group II decarboxylase family 9606.ENSP00000282541 GPD1L 351 Glycerol-3-phosphate dehydrogenase 1-like protein; Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L 9606.ENSP00000282549 OTX1 354 Homeobox protein OTX1; Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'; PRD class homeoboxes and pseudogenes 9606.ENSP00000282561 GJA1 382 Gap junction alpha-1 protein; Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli a [...] 9606.ENSP00000282570 GMCL1 515 Germ cell-less protein-like 1; Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport (By similarity); BTB domain containing 9606.ENSP00000282572 CCNO 350 Cyclin-O; Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mother centriole amplification and maturation in preparation for apical docking; Belongs to the cyclin family 9606.ENSP00000282588 ITGA1 1179 Integrin alpha-1; Integrin alpha-1/beta-1 is a receptor for laminin and collagen. It recognizes the proline-hydroxylated sequence G-F-P-G- E-R in collagen. Involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth; CD molecules 9606.ENSP00000282611 CATSPER3 398 Cation channel sperm-associated protein 3; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte; Cation channels sperm associated 9606.ENSP00000282633 FAM21A 1341 WASH complex subunit 2A; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex prob [...] 9606.ENSP00000282670 TCTEX1D1 179 Tctex1 domain containing 1; Belongs to the dynein light chain Tctex-type family 9606.ENSP00000282701 BMP3 472 Bone morphogenetic protein 3; Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification; Bone morphogenetic proteins 9606.ENSP00000282728 HHEX 270 Hematopoietically-expressed homeobox protein HHEX; Recognizes the DNA sequence 5'-ATTAA-3'. Transcriptional repressor. May play a role in hematopoietic differentiation. Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity); NKL subclass homeoboxes and pseudogenes 9606.ENSP00000282841 GGPS1 300 Geranylgeranyl pyrophosphate synthase; Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins 9606.ENSP00000282849 ADAMTS18 1221 ADAM metallopeptidase with thrombospondin type 1 motif 18 9606.ENSP00000282869 ZNF117 483 Zinc finger protein 117; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000282878 RAB3C 227 Ras-related protein Rab-3C; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000282892 MED21 144 Mediator of RNA polymerase II transcription subunit 21; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000282903 PLOD2 758 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links 9606.ENSP00000282908 STK32B 414 Serine/threonine kinase 32B 9606.ENSP00000282928 ZIC1 447 Zinc finger protein ZIC 1; Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally- located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplas [...] 9606.ENSP00000283006 CENPH 247 Centromere protein H; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate 9606.ENSP00000283025 TEKT5 485 Tektin-5; May be a structural component of the sperm flagellum; Tektins 9606.ENSP00000283027 NUBP1 320 Cytosolic Fe-S cluster assembly factor NUBP1; Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Implicated in the regulation of centrosome duplication (By similarity). Negatively regulates cilium formation and structure (By similarity) 9606.ENSP00000283033 TXNDC11 958 Thioredoxin domain-containing protein 11; May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it belongs to a multiprotein complex constituting the thyroid H(2)O(2) generating system. It is however not sufficient to assist DUOX1 and DUOX2 in H(2)O(2) generation 9606.ENSP00000283109 RIOK2 552 Serine/threonine-protein kinase RIO2; Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in export of the 40S pre- ribosome particles (pre-40S) from the nucleus to the cytoplasm. Its catalytic activity is required for the release of NOB1, PNO1 and LTV1 from the late pre-40S and the processing of 18S-E pre- rRNA to the mature 18S rRNA 9606.ENSP00000283131 SMARCA5 1052 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5; Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. [...] 9606.ENSP00000283141 SYCP2L 812 Synaptonemal complex protein 2-like; Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes; Belongs to the SYCP2 family 9606.ENSP00000283147 BMP6 513 Bone morphogenetic protein 6; Induces cartilage and bone formation; Bone morphogenetic proteins 9606.ENSP00000283148 UXS1 425 UDP-glucuronic acid decarboxylase 1; Catalyzes the NAD-dependent decarboxylation of UDP- glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000283179 HNRNPU 825 Heterogeneous nuclear ribonucleoprotein U; DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression. Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin- associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability. Required for the localization of the long non-coding Xist RNA on the inacti [...] 9606.ENSP00000283195 RANBP2 3224 E3 SUMO-protein ligase RanBP2; E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single- stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB. Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore comple [...] 9606.ENSP00000283206 TMEM87B 555 Transmembrane protein 87B; May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN); Belongs to the LU7TM family. TMEM87 subfamily 9606.ENSP00000283225 OR14K1 314 Olfactory receptor 14K1; Odorant receptor; Olfactory receptors, family 14 9606.ENSP00000283228 PTPRR 657 Receptor-type tyrosine-protein phosphatase R; Sequesters mitogen-activated protein kinases (MAPKs) such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactive form. The MAPKs bind to a dephosphorylated kinase interacting motif, phosphorylation of which by the protein kinase A complex releases the MAPKs for activation and translocation into the nucleus (By similarity); Protein tyrosine phosphatases, receptor type 9606.ENSP00000283233 CCDC148 591 Coiled-coil domain containing 148 9606.ENSP00000283243 PLA2R1 1463 Secretory phospholipase A2 receptor; Receptor for secretory phospholipase A2 (sPLA2). Acts as a receptor for phosholipase sPLA2-IB/PLA2G1B but not sPLA2- IIA/PLA2G2A. Also able to bind to snake PA2-like toxins. Although its precise function remains unclear, binding of sPLA2 to its receptor participates in both positive and negative regulation of sPLA2 functions as well as clearance of sPLA2. Binding of sPLA2- IB/PLA2G1B induces various effects depending on the cell type, such as activation of the mitogen-activated protein kinase (MAPK) cascade to induce cell proliferation, the producti [...] 9606.ENSP00000283249 ITGB6 788 Integrin beta-6; Integrin alpha-V/beta-6 is a receptor for fibronectin and cytotactin. It recognizes the sequence R-G-D in its ligands. Internalisation of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion. ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 9606.ENSP00000283254 SCN3A 2000 Sodium channel protein type 3 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient; Sodium voltage-gated channel alpha subunits 9606.ENSP00000283268 FEZF2 459 Fez family zinc finger protein 2; Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. May be involved in innate immunity (By similarity); Zinc fingers C2H2-type 9606.ENSP00000283285 CD96 585 T-cell surface protein tactile; May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation; CD molecules 9606.ENSP00000283290 ATG3 314 Ubiquitin-like-conjugating enzyme ATG3; E2 conjugating enzyme required for the cytoplasm to vacuole transport (Cvt), autophagy, and mitochondrial homeostasis. Responsible for the E2-like covalent binding of phosphatidylethanolamine to the C-terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A). The ATG12- ATG5 conjugate plays a role of an E3 and promotes the transfer of ATG8-like proteins from ATG3 to phosphatidylethanolamine (PE). This step is required for the membrane association of ATG8-like proteins. The formation of the ATG8-phosphatidylethanolamine conjug [...] 9606.ENSP00000283296 GPR116 1346 Adhesion G protein-coupled receptor F5; Receptor that plays a critical role in lung surfactant homeostasis. May play a role in controlling adipocyte function; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000283303 GPR115 695 Adhesion G protein-coupled receptor F4; Orphan receptor 9606.ENSP00000283309 FRMD1 549 FERM domain containing 1 9606.ENSP00000283351 TRAPPC8 1435 Trafficking protein particle complex subunit 8; May be involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage; Trafficking protein particle complex 9606.ENSP00000283357 FAM81B 452 Protein FAM81B; Family with sequence similarity 81 member B 9606.ENSP00000283415 LPCAT1 534 Lysophosphatidylcholine acyltransferase 1; Possesses both acyltransferase and acetyltransferase activities. Activity is calcium-independent (By similarity). Mediates the conversion of 1- acyl-sn-glycero-3-phosphocholine (LPC) into phosphatidylcholine (PC). Displays a clear preference for saturated fatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donors and acceptors, respectively. May synthesize phosphatidylcholine in pulmonary surfactant, thereby playing a pivotal role in respiratory physiology. Involved in the regulation of lipid droplet number and size 9606.ENSP00000283426 PLEKHG4B 1271 Pleckstrin homology and RhoGEF domain containing G4B 9606.ENSP00000283441 ZDHHC11 412 Probable palmitoyltransferase ZDHHC11; Zinc finger DHHC-type containing 11; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000283474 UBALD1 177 UBA-like domain-containing protein 1; UBA like domain containing 1 9606.ENSP00000283547 TEX29 151 Testis-expressed protein 29; Testis expressed 29 9606.ENSP00000283550 SPACA7 195 Sperm acrosome-associated protein 7; Involved in fertilization. Seems not to play a direct role in sperm-egg binding or gamete fusion 9606.ENSP00000283629 UBP1 540 Upstream-binding protein 1; Functions as a transcriptional activator in a promoter context-dependent manner. Modulates the placental expression of CYP11A1. Involved in regulation of the alpha-globin gene in erythroid cells. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with TFCP2 (By similarity). Involved in regulation of the alpha-globin gene in erythroid cells. Binds strongly to sequences around the HIV-1 initiation site and weakly over the TATA-box. Represses HIV-1 transcription by inhibiting the binding of TFIID to the TATA-box; Belongs t [...] 9606.ENSP00000283632 RMND5A 391 Protein RMD5 homolog A; Required for meiotic nuclear division 5 homolog A; CTLH complex 9606.ENSP00000283646 RPIA 311 Ribose 5-phosphate isomerase A; Belongs to the ribose 5-phosphate isomerase family 9606.ENSP00000283713 VILL 856 Villin-like protein; Possible tumor suppressor; Gelsolin/villins 9606.ENSP00000283752 SERPINB3 390 Serpin B3; May act as a papain-like cysteine protease inhibitor to modulate the host immune response against tumor cells. Also functions as an inhibitor of UV-induced apoptosis via suppression of the activity of c-Jun NH(2)-terminal kinase (JNK1); Serpin peptidase inhibitors 9606.ENSP00000283871 HGD 445 Homogentisate 1,2-dioxygenase 9606.ENSP00000283875 GTF2E1 439 General transcription factor IIE subunit 1; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase; Belongs to the TFIIE alpha subunit family 9606.ENSP00000283882 CFDP1 299 Craniofacial development protein 1; May play a role during embryogenesis 9606.ENSP00000283916 TMPRSS11D 418 Transmembrane protease serine 11D; May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. Plays a role in the proteolytic processing of ACE2. Proteolytically cleaves and activates the human coronavirus 229E (HCoV-229E) spike glycoprotein which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell lin [...] 9606.ENSP00000283921 HOXA10 410 Homeobox protein Hox-A10; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to the DNA sequence 5'-AA[AT]TTTTATTAC-3'; HOXL subclass homeoboxes 9606.ENSP00000283928 JAZF1 243 Juxtaposed with another zinc finger protein 1; Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2. Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By simi [...] 9606.ENSP00000283946 FBXO36 188 F-box only protein 36; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000284000 CEBPG 150 CCAAT/enhancer-binding protein gamma; Transcription factor that binds to the promoter and the enhancer regions of target genes. Binds to the enhancer element PRE-I (positive regulatory element-I) of the IL-4 gene. Binds to the promoter and the enhancer of the immunoglobulin heavy chain. Binds to GPE1, a cis-acting element in the G-CSF gene promoter; Belongs to the bZIP family. C/EBP subfamily 9606.ENSP00000284031 DDAH1 285 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1; Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation 9606.ENSP00000284061 DGKE 567 Diacylglycerol kinase epsilon; Highly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid composition 9606.ENSP00000284073 MSI2 328 RNA-binding protein Musashi homolog 2; RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity); Belongs to the Musashi family 9606.ENSP00000284110 HS3ST3A1 406 Heparan sulfate glucosamine 3-O-sulfotransferase 3A1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N- unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non- anticoagulant heparan sulfate to anti [...] 9606.ENSP00000284116 GDPD1 314 Lysophospholipase D GDPD1; Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylethanolamine (lyso-PE) and lysophosphatidylcholine (lyso-PC). May be involved in bioactive N-acylethanolamine biosynthesis. Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine 9606.ENSP00000284136 SEMA3D 777 Semaphorin-3D; Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity); Semaphorins 9606.ENSP00000284142 ASB17 295 Ankyrin repeat and SOCS box protein 17; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Ankyrin repeat domain containing 9606.ENSP00000284154 GRAP 217 GRB2-related adapter protein; Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway; SH2 domain containing 9606.ENSP00000284202 IMPACT 320 Protein IMPACT; Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1- mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 a [...] 9606.ENSP00000284240 THY1 161 Thy-1 membrane glycoprotein; May play a role in cell-cell or cell-ligand interactions during synaptogenesis and other events in the brain; CD molecules 9606.ENSP00000284245 C16orf74 76 Uncharacterized protein C16orf74; Chromosome 16 open reading frame 74 9606.ENSP00000284262 JPH3 748 Junctophilin-3; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory 9606.ENSP00000284268 ANKH 492 Progressive ankylosis protein homolog; Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter; Belongs to the ANKH family 9606.ENSP00000284273 UBASH3B 649 Ubiquitin-associated and SH3 domain-containing protein B; Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors and EGFR, on the cell surface. Exhibits tyrosine phosphatase activity toward several substrates including EGFR, FAK, SYK, and ZAP70. Down-regulates proteins that are dually modified by both protein tyrosine phosphorylation and ubiquitination 9606.ENSP00000284274 OTULIN 352 Ubiquitin thioesterase otulin; Deubiquitinase that specifically removes linear ('Met- 1'-linked) polyubiquitin chains to substrates and acts as a regulator of angiogenesis and innate immune response. Associates with the LUBAC complex via direct interaction with RNF31 and counteracts its action by cleaving linear polyubiquitin chains to substrates. Required during angiogenesis, craniofacial and neuronal development by regulating the canonical Wnt signaling together with the LUBAC complex. Acts as a negative regulator of NF- kappa-B by counteracting activity of the LUBAC complex. Require [...] 9606.ENSP00000284287 OR8A1 326 Olfactory receptor 8A1; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000284288 PANX3 392 Pannexin-3; Structural component of the gap junctions and the hemichannels; Pannexins 9606.ENSP00000284292 NRGN 78 Neurogranin; Acts as a "third messenger" substrate of protein kinase C-mediated molecular cascades during synaptic development and remodeling. Binds to calmodulin in the absence of calcium (By similarity); Belongs to the neurogranin family 9606.ENSP00000284311 GPR15 360 G-protein coupled receptor 15; Probable chemokine receptor. Alternative coreceptor with CD4 for HIV-1 infection; G protein-coupled receptors, Class A orphans 9606.ENSP00000284320 TOMM70A 608 Mitochondrial import receptor subunit TOM70; Receptor that accelerates the import of all mitochondrial precursor proteins 9606.ENSP00000284322 ABI3BP 1075 Target of Nesh-SH3; Fibronectin type III domain containing 9606.ENSP00000284382 CERS3 383 Ceramide synthase 3; Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation; CERS class homeoboxes 9606.ENSP00000284425 ABCA6 1617 ATP-binding cassette sub-family A member 6; Probable transporter which may play a role in macrophage lipid homeostasis; Belongs to the ABC transporter superfamily. ABCA family 9606.ENSP00000284437 C4orf19 314 Uncharacterized protein C4orf19; Chromosome 4 open reading frame 19 9606.ENSP00000284440 UCHL1 223 Ubiquitin carboxyl-terminal hydrolase isozyme L1; Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity; Parkinson disease associated genes 9606.ENSP00000284476 DISP1 1524 Protein dispatched homolog 1; Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause a increase in SHH secretion; Belongs to the dispatched family 9606.ENSP00000284486 FAM167A 214 Protein FAM167A; Family with sequence similarity 167 member A; Belongs to the FAM167 (SEC) family 9606.ENSP00000284503 NEIL2 332 Endonuclease 8-like 2; Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5-hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double-stranded DNA (DNA bubbles). Has low or no DNA glycosylase activity towards thymine glycol, 2-hydroxyadenine, hypoxanthine and 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with [...] 9606.ENSP00000284509 ATP8B4 1192 Probable phospholipid-transporting ATPase IM; Component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable) 9606.ENSP00000284523 WNT3A 352 Protein Wnt-3a; Ligand for members of the frizzled family of seven transmembrane receptors. Wnt-3 and Wnt-3a play distinct roles in cell-cell signaling during morphogenesis of the developing neural tube; Endogenous ligands 9606.ENSP00000284551 TRIM11 468 E3 ubiquitin-protein ligase TRIM11; E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX. Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis. May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences. May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation [...] 9606.ENSP00000284601 PPP1R3A 1122 Protein phosphatase 1 regulatory subunit 3A; Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity); Protein phosphatase 1 regulatory subunits 9606.ENSP00000284617 CCSAP 270 Centriole, cilia and spindle-associated protein; Plays a role in microtubule (MT) stabilization and this stabilization involves the maintenance of NUMA1 at the spindle poles. Colocalizes with polyglutamylated MTs to promote MT stabilization and regulate bipolar spindle formation in mitosis. Binding of CCSAP to centrosomes and the spindle around centrosomes during mitosis inhibits MT depolymerization, thereby stabilizing the mitotic spindle. May play a role in embryonic development. May be required for proper cilia beating (By similarity) 9606.ENSP00000284629 ASZ1 475 Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi- bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the [...] 9606.ENSP00000284637 SH3RF1 888 E3 ubiquitin-protein ligase SH3RF1; Acts as a scaffold protein, contributes to Rac-induced signal transduction such as JNKs (MAPK8 and MAPK9) activation and induces apoptosis. Within a signaling complex, it probably recruits protein kinases such as MAP3K10 or MAP3K11 which are in turn activated leading to the sequential activation of MAP2K4, MAP2K7 and JNKs (MAPK8 and MAPK9) (By similarity). May be involved in targeting of HIV-1 GAG and GAG-POL polyproteins to the plasma membrane; Belongs to the SH3RF family 9606.ENSP00000284669 KLHL41 606 Kelch-like protein 41; Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells; BTB domain containing 9606.ENSP00000284674 GPR26 337 G-protein coupled receptor 26; Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP; G protein-coupled receptors, Class A orphans 9606.ENSP00000284690 DHX32 743 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32; DEAH-box helicase 32; Belongs to the DEAD box helicase family. DEAH subfamily 9606.ENSP00000284694 C10orf90 699 Centrosomal protein C10orf90; Tumor suppressor that is required to sustain G2/M checkpoint after DNA damage. Mediates CDKN1A/p21 protein stability in a ubiquitin-independent manner (By similarity). May have a role in the assembly of primary cilia 9606.ENSP00000284719 OLA1 396 Obg-like ATPase 1; Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP; Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. YchF/OLA1 subfamily 9606.ENSP00000284727 ATP5G3 142 ATP synthase F(0) complex subunit C3, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...] 9606.ENSP00000284770 PDLIM3 364 PDZ and LIM domain protein 3; May play a role in the organization of actin filament arrays within muscle cells; LIM domain containing 9606.ENSP00000284818 LY96 160 Lymphocyte antigen 96; Binds bacterial lipopolysaccharide (LPS). Cooperates with TLR4 in the innate immune response to bacterial lipopolysaccharide (LPS), and with TLR2 in the response to cell wall components from Gram- positive and Gram-negative bacteria. Enhances TLR4-dependent activation of NF-kappa-B. Cells expressing both LY96 and TLR4, but not TLR4 alone, respond to LPS 9606.ENSP00000284878 CXADR 365 Coxsackievirus and adenovirus receptor; Component of the epithelial apical junction complex that may function as a homophilic cell adhesion molecule and is essential for tight junction integrity. Also involved in transepithelial migration of leukocytes through adhesive interactions with JAML a transmembrane protein of the plasma membrane of leukocytes. The interaction between both receptors also mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downs [...] 9606.ENSP00000284881 C21orf91 297 Protein EURL homolog; Plays a role in cortical progenitor cell proliferation and differentiation. Promotes dendritic spine development of post- migratory cortical projection neurons by modulating the beta- catenin signaling pathway; Belongs to the EURL family 9606.ENSP00000284885 TMPRSS15 1019 Enteropeptidase; Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases; Scavenger receptor cysteine rich domain containing 9606.ENSP00000284981 APP 770 Amyloid-beta A4 protein; N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6); Endogenous ligands 9606.ENSP00000284984 ADAMTS1 967 A disintegrin and metalloproteinase with thrombospondin motifs 1; Cleaves aggrecan, a cartilage proteoglycan, at the '1938-Glu-|-Leu-1939' site (within the chondroitin sulfate attachment domain), and may be involved in its turnover (By similarity). Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000284987 ADAMTS5 930 A disintegrin and metalloproteinase with thrombospondin motifs 5; Metalloproteinase that plays an important role in connective tissue organization, development, inflammation, arthritis, and cell migration. ADAMTS5 is an extracellular matrix (ECM) degrading enzyme that show proteolytic activity toward the hyalectan group of chondroitin sulfate proteoglycans (CSPGs) including aggrecan, versican, brevican and neurocan. Cleavage within the hyalectans occurs at Glu-Xaa recognition motifs. Plays a role in embryonic development, including limb and cardiac morphogenesis, and skeletal muscle de [...] 9606.ENSP00000284995 TSEN2 465 tRNA-splicing endonuclease subunit Sen2; Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural [...] 9606.ENSP00000285013 SLFN13 897 Schlafen family member 13 9606.ENSP00000285018 WNT7A 349 Protein Wnt-7a; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. Signaling by Wnt-7a allows sexually dimorphic development of the mullerian ducts (By similarity) 9606.ENSP00000285021 XPC 940 DNA repair protein complementing XP-C cells; Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures int [...] 9606.ENSP00000285039 MYO5B 1848 Unconventional myosin-Vb; May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis; Belongs to the TRAFAC cla [...] 9606.ENSP00000285046 FGD5 1462 FYVE, RhoGEF and PH domain-containing protein 5; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape; Pleckstrin homology domain containing 9606.ENSP00000285071 FLCN 579 Folliculin; May be a tumor suppressor. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1; DENN/MADD domain containing 9606.ENSP00000285083 OXNAD1 312 Oxidoreductase NAD-binding domain-containing protein 1; Oxidoreductase NAD binding domain containing 1 9606.ENSP00000285093 ACAA2 397 3-ketoacyl-CoA thiolase, mitochondrial; Abolishes BNIP3-mediated apoptosis and mitochondrial damage 9606.ENSP00000285116 SKA1 255 Spindle and kinetochore-associated protein 1; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a [...] 9606.ENSP00000285199 USP43 1123 Ubiquitin carboxyl-terminal hydrolase 43; May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins (By similarity); Belongs to the peptidase C19 family 9606.ENSP00000285208 RAB6B 208 Ras-related protein Rab-6B; Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000285238 ABCC3 1527 Canalicular multispecific organic anion transporter 2; May act as an inducible transporter in the biliary and intestinal excretion of organic anions. Acts as an alternative route for the export of bile acids and glucuronides from cholestatic hepatocytes (By similarity); Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily 9606.ENSP00000285243 ANKRD40 368 Ankyrin repeat domain-containing protein 40; Ankyrin repeat domain containing 9606.ENSP00000285279 VOPP1 172 Vesicular, overexpressed in cancer, prosurvival protein 1; Increases the transcriptional activity of NFKB1 by facilitating its nuclear translocation, DNA-binding and associated apoptotic response, when overexpressed; Belongs to the VOPP1/ECOP family 9606.ENSP00000285298 RPMS17 130 Mitochondrial ribosomal protein S17; Belongs to the universal ribosomal protein uS17 family 9606.ENSP00000285311 DKK2 259 Dickkopf-related protein 2; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero- posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity); Belongs to the dickkopf family 9606.ENSP00000285379 CA2 260 Carbonic anhydrase 2; Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6; Carbonic anhydrases 9606.ENSP00000285381 CA3 260 Carbonic anhydrase 3; Reversible hydration of carbon dioxide; Carbonic anhydrases 9606.ENSP00000285393 ATP6V0D2 350 V-type proton ATPase subunit d 2; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity); V-type ATPases 9606.ENSP00000285398 ERCC3 782 TFIIH basal transcription factor complex helicase XPB subunit; ATP-dependent 3'-5' DNA helicase, component of the core- TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage 9606.ENSP00000285402 ODF1 250 Outer dense fiber protein 1; Component of the outer dense fibers (ODF) of spermatozoa. ODF are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail; Small heat shock proteins 9606.ENSP00000285407 KLF10 480 Krueppel-like factor 10; Transcriptional repressor which binds to the consensus sequence 5'-GGTGTG-3'. Plays a role in the regulation of the circadian clock; binds to the GC box sequence in the promoter of the core clock component ARTNL/BMAL1 and represses its transcriptional activity. Regulates the circadian expression of genes involved in lipogenesis, gluconeogenesis, and glycolysis in the liver. Represses the expression of PCK2, a rate-limiting step enzyme of gluconeogenesis (By similarity). May play a role in the cell cycle regulation; Belongs to the Sp1 C2H2-type zinc-finger prote [...] 9606.ENSP00000285419 TMEM55A 257 Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate. Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4- bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3- monophosphate 9606.ENSP00000285420 OTUD6B 323 OTU domain containing 6B 9606.ENSP00000285518 AGPAT5 364 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon; Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C15:0-C20:4 at the sn-1 position using C18:1-CoA as the acyl donor. Also acts on lysophosphatidylethanolamine using oleoyl-CoA, but not arachidonoyl-CoA, and lysophosphatidylinositol using arachidonoyl-CoA, but not oleoyl-CoA. Activity toward lysophosphatidylglycerol not detectable; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltra [...] 9606.ENSP00000285599 MAN2B2 1009 Epididymis-specific alpha-mannosidase; Mannosidase alpha class 2B member 2; Belongs to the glycosyl hydrolase 38 family 9606.ENSP00000285600 OR4K1 311 Olfactory receptor 4K1; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000285667 HSPA13 471 Heat shock 70 kDa protein 13; Has peptide-independent ATPase activity; Heat shock 70kDa proteins 9606.ENSP00000285670 SAMSN1 441 SAM domain-containing protein SAMSN-1; Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity); SAM and SH3 domain containing 9606.ENSP00000285697 C16orf87 154 UPF0547 protein C16orf87; Chromosome 16 open reading frame 87; Belongs to the UPF0547 family 9606.ENSP00000285735 RHOC 193 Rho-related GTP-binding protein RhoC; Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells; Rho family GTPases 9606.ENSP00000285737 LONP2 852 Lon protease homolog 2, peroxisomal; ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1; AAA ATPases 9606.ENSP00000285805 TRIM74 250 Tripartite motif containing 74; Belongs to the TRIM/RBCC family 9606.ENSP00000285814 NIFK 293 Nucleolar protein interacting with the FHA domain of MKI67; RNA binding motif containing 9606.ENSP00000285871 CCDC146 955 Coiled-coil domain containing 146 9606.ENSP00000285873 GEMIN5 1508 Gem-associated protein 5; Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre- mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive [...] 9606.ENSP00000285879 MAGEC1 1142 Melanoma-associated antigen C1; MAGE family member C1 9606.ENSP00000285928 LRGUK 825 Leucine-rich repeat and guanylate kinase domain-containing protein; Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development. Not essential for primary cilium biogenesis; Cilia and flagella associated 9606.ENSP00000285930 AKR1B1 316 Aldose reductase; Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies; Belongs to the aldo/keto reductase family 9606.ENSP00000285947 SETD9 299 SET domain containing 9 9606.ENSP00000285949 CYP26C1 522 Cytochrome P450 26C1; Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate); Belongs to the cytochrome P450 family 9606.ENSP00000285968 NUP205 2012 Nuclear pore complex protein Nup205; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other nucleoporins, but not NUP153 and TPR, to the NPC; Armadillo-like helical domain containing 9606.ENSP00000285979 CYP2C18 490 Cytochrome P450 2C18; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics 9606.ENSP00000286031 C1orf112 853 Uncharacterized protein C1orf112; Chromosome 1 open reading frame 112 9606.ENSP00000286049 XAGE2B 111 X antigen family, member 2B 9606.ENSP00000286063 PDE11A 933 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'- GMP, respectively; Phosphodiesterases 9606.ENSP00000286067 C10orf12 1247 Ligand-dependent corepressor; May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3' (By similarity). Repressor of ligand-dependent transcription activation by target nuclear receptors. Repressor of ligand- dependent transcription activation by ESR1, ESR2, NR3C1, PGR, RARA, RARB, RARG, RXRA and VDR 9606.ENSP00000286070 RBM45 474 RNA-binding protein 45; RNA-binding protein with binding specificity for poly(C). May play an important role in neural development 9606.ENSP00000286091 PDIA4 645 Protein disulfide-isomerase A4; Protein disulfide isomerase family A member 4; Belongs to the protein disulfide isomerase family 9606.ENSP00000286175 PPIL3 165 Peptidyl-prolyl cis-trans isomerase; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000286186 CASP10 522 Caspase-10; Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates caspase- 3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC; Belongs to the peptidase C14A family 9606.ENSP00000286201 FZD7 574 Frizzled-7; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to [...] 9606.ENSP00000286234 DEPTOR 409 DEP domain-containing mTOR-interacting protein; Negative regulator of the mTORC1 and mTORC2 signaling pathways. Inhibits the kinase activity of both complexes; PDZ domain containing 9606.ENSP00000286298 SLC26A2 739 Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation; Solute carriers 9606.ENSP00000286301 CSF1R 972 Macrophage colony-stimulating factor 1 receptor; Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulat [...] 9606.ENSP00000286307 LSM11 360 U7 snRNA-associated Sm-like protein LSm11; Component of the U7 snRNP complex that is involved in the histone 3'-end pre-mRNA processing (By similarity). Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to the Sm-binding site of U7 snRNA; LSm proteins 9606.ENSP00000286317 MED7 233 Mediator of RNA polymerase II transcription subunit 7; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000286349 TRIM42 723 Tripartite motif-containing protein 42; Protein phosphatase 1 regulatory subunits; Belongs to the TRIM/RBCC family 9606.ENSP00000286353 PXYLP1 480 2-phosphoxylose phosphatase 1; Responsible for the 2-O-dephosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature glycosaminoglycan (GAG) chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1- 4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-dephosphorylation duri [...] 9606.ENSP00000286355 ADCY8 1251 Adenylate cyclase type 8; This is a membrane-bound, calcium-stimulable adenylyl cyclase. May be involved in learning, in memory and in drug dependence (By similarity); Adenylate cyclases 9606.ENSP00000286364 RASA2 849 Ras GTPase-activating protein 2; Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4); C2 and RasGAP domain containing 9606.ENSP00000286371 ATP1B3 279 Sodium/potassium-transporting ATPase subunit beta-3; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known; ATPase Na+/K+ transporting subunits 9606.ENSP00000286398 SMC2 1197 Structural maintenance of chromosomes protein 2; Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases; Belongs to the SMC family. SMC2 subfamily 9606.ENSP00000286424 TMBIM4 285 Transmembrane BAX inhibitor motif containing 4; Belongs to the BI1 family 9606.ENSP00000286428 VBP1 197 Prefoldin subunit 3; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Prefoldin subunits 9606.ENSP00000286479 NAT2 290 Arylamine N-acetyltransferase 2; Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens 9606.ENSP00000286523 ELMSAN1 1045 ELM2 and Myb/SANT domain containing 1 9606.ENSP00000286544 FAM161B 710 Protein FAM161B; Family with sequence similarity 161 member B; Belongs to the FAM161 family 9606.ENSP00000286548 GNAQ 359 Guanine nucleotide-binding protein G(q) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity); Belongs to the G-alpha family. G(q) subfamily 9606.ENSP00000286574 WIF1 379 Wnt inhibitory factor 1; Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation 9606.ENSP00000286614 MMP16 607 Matrix metalloproteinase-16; Endopeptidase that degrades various components of the extracellular matrix, such as collagen type III and fibronectin. Activates progelatinase A. Involved in the matrix remodeling of blood vessels. Isoform short cleaves fibronectin and also collagen type III, but at lower rate. It has no effect on type I, II, IV and V collagen. However, upon interaction with CSPG4, it may be involved in degradation and invasion of type I collagen by melanoma cells; Belongs to the peptidase M10A family 9606.ENSP00000286621 ADK 362 Adenosine kinase; ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides; Belongs to the carbohydrate kinase PfkB family 9606.ENSP00000286628 KCNMA1 1236 Calcium-activated potassium channel subunit alpha-1; Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in t [...] 9606.ENSP00000286639 BATF 125 Basic leucine zipper transcriptional factor ATF-like; AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system: specifically mediates the differentiation of T-helper 17 cells (Th17), follicular T-helper cells (TfH), CD8(+) dendritic cells and class-switch recombination (CSR) in B-cells. Acts via the formation of a heterodimer with JUNB that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3'. The BATF-JUNB heterodimer also forms a complex with IRF4 (or IRF8) in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA [...] 9606.ENSP00000286648 DCK 260 Deoxycytidine kinase; Required for the phosphorylation of the deoxyribonucleosides deoxycytidine (dC), deoxyguanosine (dG) and deoxyadenosine (dA). Has broad substrate specificity, and does not display selectivity based on the chirality of the substrate. It is also an essential enzyme for the phosphorylation of numerous nucleoside analogs widely employed as antiviral and chemotherapeutic agents; Belongs to the DCK/DGK family 9606.ENSP00000286657 ADAMTS3 1205 A disintegrin and metalloproteinase with thrombospondin motifs 3; Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000286688 C8orf37 207 Protein C8orf37; Chromosome 8 open reading frame 37; Bardet-Biedl syndrome associated 9606.ENSP00000286692 DRAM2 266 DNA damage-regulated autophagy modulator protein 2; Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1; Belongs to the DRAM/TMEM150 family 9606.ENSP00000286713 STOM 288 Erythrocyte band 7 integral membrane protein; Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity; Belongs to the band 7/mec-2 family 9606.ENSP00000286719 PPEF2 753 Serine/threonine-protein phosphatase with EF-hands 2; May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission; Belongs to the PPP phosphatase family 9606.ENSP00000286732 C15orf26 301 Cilia- and flagella-associated protein 161; May play a role in motile cilia function, possibly by acting on dynein arm assembly 9606.ENSP00000286733 NAAA 359 N-acylethanolamine-hydrolyzing acid amidase; Degrades bioactive fatty acid amides to their corresponding acids, with the following preference: N- palmitoylethanolamine > N-myristoylethanolamine > N- lauroylethanolamine = N-stearoylethanolamine > N- arachidonoylethanolamine > N-oleoylethanolamine. Also exhibits weak hydrolytic activity against the ceramides N- lauroylsphingosine and N-palmitoylsphingosine 9606.ENSP00000286744 ADAMTSL3 1691 ADAMTS-like protein 3; Immunoglobulin like domain containing 9606.ENSP00000286758 CXCL13 109 C-X-C motif chemokine 13; Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils. Does not induce calcium release in B- lymphocytes. Binds to BLR1/CXCR5; Chemokine ligands 9606.ENSP00000286760 WHAMM 809 WASP homolog-associated protein with actin, membranes and microtubules; Acts as a nucleation-promoting factor (NPF) that stimulates Arp2/3-mediated actin polymerization both at the Golgi apparatus and along tubular membranes. Its activity in membrane tubulation requires F-actin and interaction with microtubules. Proposed to use coordinated actin-nucleating and microtubule- binding activities of distinct WHAMM molecules to drive membrane tubule elongation; when MT-bound can recruit and remodel membrane vesicles but is prevented to activate the Arp2/3 complex. Involved as a regulator of [...] 9606.ENSP00000286788 CCT8 548 T-complex protein 1 subunit theta; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin; Belongs to the TCP-1 chaperonin family 9606.ENSP00000286794 NAA11 229 N-alpha-acetyltransferase 11; Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex; Belongs to the acetyltransferase family. ARD1 subfamily 9606.ENSP00000286808 CLDN17 224 Claudin-17; Channel-forming tight junction protein with selectivity for anions, including chloride and bicarbonate, and for solutes smaller than 9 Angstrom in diameter. In the kidney proximal tubule, may be involved in quantitative reabsorption of filtered anions. Does not affect water permeability; Belongs to the claudin family 9606.ENSP00000286827 TIAM1 1591 T-lymphoma invasion and metastasis-inducing protein 1; Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP- dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Activates RAC1, CDC42, and to a lesser extent RHOA. Required for normal cell adhesion and cell migration; PDZ domain containing 9606.ENSP00000286835 SCAF4 1147 Splicing factor, arginine/serine-rich 15; May act to physically and functionally link transcription and pre-mRNA processing; Belongs to the splicing factor SR family 9606.ENSP00000286918 ANKRD9 317 Ankyrin repeat domain-containing protein 9; Ankyrin repeat domain containing 9606.ENSP00000287008 PCDH1 1237 Protocadherin-1; May be involved in cell-cell interaction processes and in cell adhesion; Non-clustered protocadherins 9606.ENSP00000287020 GDF6 455 Growth/differentiation factor 6; Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specif [...] 9606.ENSP00000287025 MTERF3 417 Transcription termination factor 3, mitochondrial; Binds promoter DNA and regulates initiation of transcription. Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity); Belongs to the mTERF family 9606.ENSP00000287042 KCNS2 477 Potassium voltage-gated channel subfamily S member 2; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage- gated potassium channel activation and deactivation rates of KCNB1 and KCNB2 9606.ENSP00000287078 TYSND1 566 Peroxisomal leader peptide-processing protease; Peroxisomal protease that mediates both the removal of the leader peptide from proteins containing a PTS2 target sequence and processes several PTS1-containing proteins. Catalyzes the processing of PTS1-proteins involved in the peroxisomal beta- oxidation of fatty acids 9606.ENSP00000287097 CD109 1445 CD109 antigen; Modulates negatively TGFB1 signaling in keratinocytes; Belongs to the protease inhibitor I39 (alpha-2- macroglobulin) family 9606.ENSP00000287139 NODAL 347 Nodal homolog; Essential for mesoderm formation and axial patterning during embryonic development; Belongs to the TGF-beta family 9606.ENSP00000287143 PRG3 225 Proteoglycan 3; Possesses similar cytotoxic and cytostimulatory activities to PRG2/MBP. In vitro, stimulates neutrophil superoxide production and IL8 release, and histamine and leukotriene C4 release from basophils; C-type lectin domain containing 9606.ENSP00000287152 KIF6 814 Kinesin-like protein KIF6; Kinesin family member 6; Kinesins 9606.ENSP00000287156 UBE2L6 153 Ubiquitin/ISG15-conjugating enzyme E2 L6; Catalyzes the covalent attachment of ubiquitin or ISG15 to other proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Promotes ubiquitination and subsequent proteasomal degradation of FLT3; Ubiquitin conjugating enzymes E2 9606.ENSP00000287169 ZDHHC5 715 Palmitoyltransferase ZDHHC5; Palmitoyl acyltransferase for the G-protein coupled receptor SSTR5. Also palmitoylates FLOT2 (By similarity); Zinc fingers DHHC-type 9606.ENSP00000287202 CELF6 481 CUGBP Elav-like family member 6; RNA-binding protein implicated in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA; Belongs to the CELF/BRUNOL family 9606.ENSP00000287218 ZFAND3 227 Zinc finger AN1-type containing 3 9606.ENSP00000287239 KAT6B 2073 Histone acetyltransferase KAT6B; Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity; Belongs to the MYST (SAS/MOZ) family 9606.ENSP00000287275 GLYATL2 294 Glycine N-acyltransferase-like protein 2; Mitochondrial acyltransferase which transfers the acyl group to the N-terminus of glycine. Conjugates numerous substrates, such as arachidonoyl-CoA and saturated medium and long-chain acyl-CoAs ranging from chain-length C8:0-CoA to C18:0- CoA, to form a variety of N-acylglycines. Shows a preference for monounsaturated fatty acid oleoyl-CoA (C18:1-CoA) as an acyl donor. Does not exhibit any activity toward C22:6-CoA and chenodeoxycholoyl-CoA, nor toward serine or alanine 9606.ENSP00000287295 AIFM1 613 Apoptosis-inducing factor 1, mitochondrial; Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH oxidoreductase activity. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA. Interacts with EIF3G,and thereby [...] 9606.ENSP00000287322 BAG4 457 BAG family molecular chaperone regulator 4; Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria; BCL2 associated athanogene family 9606.ENSP00000287380 TBC1D31 1066 TBC1 domain family member 31; WD repeat domain containing 9606.ENSP00000287387 WDYHV1 205 Protein N-terminal glutamine amidohydrolase; Mediates the side-chain deamidation of N-terminal glutamine residues to glutamate, an important step in N-end rule pathway of protein degradation. Conversion of the resulting N- terminal glutamine to glutamate renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. Does not act on substrates with internal or C- terminal glutamine and does not act on non-glutamine residues in any position. Does not deaminate acetylated N-terminal glutamine. With the exception of proline, all tested s [...] 9606.ENSP00000287394 ATAD2 1390 ATPase family AAA domain-containing protein 2; May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells; Belongs to the AAA ATPase family 9606.ENSP00000287437 NSMCE2 247 E3 SUMO-protein ligase NSE2; E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination. Is not be required for the stability of the complex. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin com [...] 9606.ENSP00000287461 ZNF689 500 Zinc finger protein 689; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000287474 FRRS1 626 Ferric-chelate reductase 1; Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm; Belongs to the FRRS1 family 9606.ENSP00000287482 SASS6 657 Spindle assembly abnormal protein 6 homolog; Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification 9606.ENSP00000287490 COX6A2 97 Cytochrome c oxidase subunit 6A2, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000287538 ZIC3 467 Zinc finger protein ZIC 3; Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'; Belongs to the GLI C2H2-type zinc-finger protein family 9606.ENSP00000287585 LHFPL4 247 LHFPL tetraspan subfamily member 4 9606.ENSP00000287590 B3GNT7 401 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7; May be involved in keratane sulfate biosynthesis. Transfers N-acetylgalactosamine on to keratan sulfate-related glycans. May play a role in preventing cells from migrating out of the original tissues and invading surrounding tissues; Beta 3-glycosyltransferases 9606.ENSP00000287598 BUB1B 1050 Mitotic checkpoint serine/threonine-protein kinase BUB1 beta; Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Nega [...] 9606.ENSP00000287600 PDE6D 150 Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; Promotes the release of prenylated target proteins from cellular membranes. Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location. Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E. Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasin [...] 9606.ENSP00000287641 SST 116 Somatostatin; Somatostatin inhibits the release of somatotropin; Endogenous ligands 9606.ENSP00000287647 FANCD2 1471 Fanconi anemia group D2 protein; Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by rep [...] 9606.ENSP00000287652 TATDN2 761 Putative deoxyribonuclease TATDN2; Putative deoxyribonuclease 9606.ENSP00000287667 NOMO1 1222 Nodal modulator 1; May antagonize Nodal signaling 9606.ENSP00000287675 EXOG 368 Nuclease EXOG, mitochondrial; Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5'-3' exonuclease activity 9606.ENSP00000287706 NTAN1 310 Protein N-terminal asparagine amidohydrolase; Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N- terminal asparagine to aspartate by PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme doe [...] 9606.ENSP00000287713 NMNAT2 307 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency. Cannot use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively. Fails to cleave phosphory [...] 9606.ENSP00000287727 ZFYVE9 1425 Zinc finger FYVE domain-containing protein 9; Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization; Zinc fingers FYVE-type 9606.ENSP00000287748 LYZL4 146 Lysozyme-like protein 4; May be involved in fertilization (By similarity). Has no detectable bacteriolytic and lysozyme activities in vitro (By similarity); Belongs to the glycosyl hydrolase 22 family 9606.ENSP00000287766 SLC6A1 599 Sodium- and chloride-dependent GABA transporter 1; Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A1 subfamily 9606.ENSP00000287777 KLHL40 621 Kelch-like protein 40; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development. The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity) 9606.ENSP00000287814 TIMP4 224 Metalloproteinase inhibitor 4; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7 and MMP- 9; Tissue inhibitor of metallopeptidases 9606.ENSP00000287820 PPARG 505 Peroxisome proliferator-activated receptor gamma; Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut ho [...] 9606.ENSP00000287859 C1orf27 454 Protein odr-4 homolog; May play a role in the trafficking of a subset of G- protein coupled receptors; Belongs to the ODR-4 family 9606.ENSP00000287878 PRKAG2 569 5'-AMP-activated protein kinase subunit gamma-2; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a [...] 9606.ENSP00000287907 HTR5A 357 5-hydroxytryptamine receptor 5A; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins; 5-hydroxytryptamine receptors, G protein-coupled 9606.ENSP00000287916 CLDN12 244 Claudin-12; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000287934 FZD1 647 Frizzled-1; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to [...] 9606.ENSP00000287936 HMGCR 888 3-hydroxy-3-methylglutaryl-coenzyme A reductase; Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins; Belongs to the HMG-CoA reductase family 9606.ENSP00000287957 GATAD1 269 GATA zinc finger domain-containing protein 1; Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me) 9606.ENSP00000287996 IPPK 491 Inositol-pentakisphosphate 2-kinase; Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis; Belongs to the IPK1 type 2 family 9606.ENSP00000288014 THTPA 230 Thiamine-triphosphatase; Hydrolase highly specific for thiamine triphosphate (ThTP); Belongs to the ThTPase family 9606.ENSP00000288022 PDF 243 Peptide deformylase, mitochondrial; Removes the formyl group from the N-terminal Met of newly synthesized proteins; Belongs to the polypeptide deformylase family 9606.ENSP00000288025 TMED6 240 Transmembrane p24 trafficking protein 6 9606.ENSP00000288050 PDPR 879 Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial; Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine; Belongs to the GcvT family 9606.ENSP00000288065 ARMC12 367 Armadillo repeat containing 12 9606.ENSP00000288071 DDX19B 479 ATP-dependent RNA helicase DDX19B; ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins; DEAD-box helicases 9606.ENSP00000288078 FUK 1084 L-fucose kinase; Takes part in the salvage pathway for reutilization of fucose from the degradation of oligosaccharides 9606.ENSP00000288087 MDP1 176 Magnesium-dependent phosphatase 1; Magnesium-dependent phosphatase which may act as a tyrosine phosphatase; HAD Asp-based protein phosphatases 9606.ENSP00000288111 DHRS1 313 Dehydrogenase/reductase SDR family member 1; Short chain dehydrogenase/reductase superfamily; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000288135 KIT 976 Mast/stem cell growth factor receptor Kit; Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activat [...] 9606.ENSP00000288139 CACNA1D 2181 Voltage-dependent L-type calcium channel subunit alpha-1D; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by o [...] 9606.ENSP00000288167 IL17RB 502 Interleukin-17 receptor B; Receptor for the proinflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells; Interleukin receptors 9606.ENSP00000288177 ZNF19 458 Zinc finger protein 19; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000288207 CCNB2 398 G2/mitotic-specific cyclin-B2; Essential for the control of the cell cycle at the G2/M (mitosis) transition; Belongs to the cyclin family. Cyclin AB subfamily 9606.ENSP00000288221 ERC2 957 ERC protein 2; Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ 9606.ENSP00000288228 FAM81A 368 Protein FAM81A; Family with sequence similarity 81 member A; Belongs to the FAM81 family 9606.ENSP00000288235 MYO1E 1108 Unconventional myosin-Ie; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cyto [...] 9606.ENSP00000288266 APPL1 709 DCC-interacting protein 13-alpha; Adapter protein that interacts with proteins involved in different cellular signaling pathways. Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction. Involved in the regulation of the insulin receptor signaling pathway; BAR-PH domain containing 9606.ENSP00000288368 PREX2 1606 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein; Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner. May be an important mediator of Rac signaling, acting directly downstream of both G protein- coupled receptors and phosphoinositide 3-kinase; PDZ domain containing 9606.ENSP00000288462 C9orf43 461 Uncharacterized protein C9orf43; Chromosome 9 open reading frame 43 9606.ENSP00000288466 ZNF618 861 Zinc finger protein 618; Zinc fingers C2H2-type 9606.ENSP00000288490 DGKI 1065 Diacylglycerol kinase iota; Ankyrin repeat domain containing 9606.ENSP00000288502 C9orf91 342 Transmembrane protein 268; Chromosome 9 open reading frame 91 9606.ENSP00000288532 COQ5 327 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial; Methyltransferase required for the conversion of 2- polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3- methyl-6-methoxy-1,4-benzoquinol (DMQH2); Seven-beta-strand methyltransferase motif containing 9606.ENSP00000288602 BRAF 766 Serine/threonine-protein kinase B-raf; Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway 9606.ENSP00000288607 PSMG3 122 Proteasome assembly chaperone 3; Chaperone protein which promotes assembly of the 20S proteasome. May cooperate with PSMG1-PSMG2 heterodimers to orchestrate the correct assembly of proteasomes 9606.ENSP00000288670 FMNL2 1092 Formin-like protein 2; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics; Belongs to the formin homology family 9606.ENSP00000288680 SPPL3 384 Signal peptide peptidase-like 3; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries. Acts like a sheddase by mediating the proteolytic release and secretion of active site- containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1. Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or fur [...] 9606.ENSP00000288699 DPYSL5 564 Dihydropyrimidinase-related protein 5; May have a function in neuronal differentiation and/or axon growth; Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family 9606.ENSP00000288710 DRC1 740 Dynein regulatory complex protein 1; Key component of the nexin-dynein regulatory complex (N- DRC), essential for N-DRC integrity. Required for the assembly and regulation of specific classes of inner dynein arm motors. May also function to restrict dynein-driven microtubule sliding, thus aiding in the generation of ciliary bending 9606.ENSP00000288774 PEX10 346 Peroxisome biogenesis factor 10; Somewhat implicated in the biogenesis of peroxisomes; Peroxins 9606.ENSP00000288828 WIPI2 454 WD repeat domain phosphoinositide-interacting protein 2; Early component of the autophagy machinery being involved in formation of preautophagosomal structures and their maturation into mature phagosomes in response to phosphatidylinositol 3-phosphate (PtdIns3P). May bind PtdIns3P 9606.ENSP00000288840 SMAD6 496 Mothers against decapentaplegic homolog 6; Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions 9606.ENSP00000288861 CIB4 185 Calcium and integrin binding family member 4; EF-hand domain containing 9606.ENSP00000288912 WDR66 1149 Cilia- and flagella-associated protein 251; May regulate cilium motility through its role in the assembly of the axonemal radial spokes; WD repeat domain containing 9606.ENSP00000288937 MRPL17 175 Mitochondrial ribosomal protein L17 9606.ENSP00000288943 DUSP2 314 Dual specificity protein phosphatase 2; Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000288955 GRHL3 626 Grainyhead-like protein 3 homolog; Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes. xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epider [...] 9606.ENSP00000288985 ERCC6L2 712 DNA excision repair protein ERCC-6-like 2; May be involved in early DNA damage response 9606.ENSP00000289004 HPD 393 4-hydroxyphenylpyruvate dioxygenase; Key enzyme in the degradation of tyrosine; Belongs to the 4HPPD family 9606.ENSP00000289013 RHPN1 670 Rhophilin-1; Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules (By similarity); PDZ domain containing 9606.ENSP00000289081 FANCC 558 Fanconi anemia group C protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1; Fanconi anemia complementation groups 9606.ENSP00000289104 MRAS 208 Ras-related protein M-Ras; May serve as an important signal transducer for a novel upstream stimuli in controlling cell proliferation. Weakly activates the MAP kinase pathway; Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000289119 ABHD3 409 Phospholipase ABHD3; Phospholipase that may play a role in phospholipids remodeling. May selectively cleave myristate (C14)-containing phosphatidylcholines through its predominant phospholipase 1 activity, cleaving preferentially acyl groups in sn1 position. In parallel, may have a minor phospholipase 2 activity acting on acyl groups in position sn2. In addition to (C14)-containing phosphatidylcholines, may also act on other medium-chain- containing and oxidatively truncated phospholipids; Abhydrolase domain containing 9606.ENSP00000289153 PIK3CB 1070 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4- phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5- bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulatio [...] 9606.ENSP00000289166 FAM46B 425 Putative nucleotidyltransferase FAM46B; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase 9606.ENSP00000289228 ACTR1B 376 Beta-centractin; Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome; Actin related proteins 9606.ENSP00000289248 RHBDL2 303 Rhomboid-related protein 2; Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3; Rhomboid family 9606.ENSP00000289269 PCDHAC2 1007 Protocadherin alpha-C2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000289272 PCDHA13 950 Protocadherin alpha-13; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000289316 HIST1H2BD 126 Histone H2B type 1-D; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000289359 MITD1 249 MIT domain-containing protein 1; Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex 9606.ENSP00000289361 BTN3A1 513 Butyrophilin subfamily 3 member A1; Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and transformed cells that are characterized by high levels of phosphorylated metabolites, such as isopentenyl pyrophosphate; Butyrophilins 9606.ENSP00000289371 EIF5B 1220 Eukaryotic translation initiation factor 5B; Plays a role in translation initiation. Translational GTPase that catalyzes the joining of the 40S and 60S subunits to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon. GTP binding and hydrolysis induces conformational changes in the enzyme that renders it active for productive interactions with the ribosome. The release of the enzyme after formation of the initiation complex is a prerequisite to form elongation-competent ribosomes; Belongs to the TRAFAC class translation factor [...] 9606.ENSP00000289373 TMSNB 45 Thymosin beta 15a; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity); Belongs to the thymosin beta family 9606.ENSP00000289382 CNOT11 510 CCR4-NOT transcription complex subunit 11; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is required for the association of CNOT10 with the CCR4-NOT complex. Seems not to be required for complex deadenylase function; Belongs to the CNOT11 family 9606.ENSP00000289388 CATIP 387 Ciliogenesis-associated TTC17-interacting protein; Plays a role in primary ciliogenesis by modulating actin polymerization 9606.ENSP00000289416 ACSM3 586 Acyl-coenzyme A synthetase ACSM3, mitochondrial; Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity); Acyl-CoA synthetase family 9606.ENSP00000289429 CD1A 327 T-cell surface glycoprotein CD1a; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells; C1-set domain containing 9606.ENSP00000289448 HMHB1 41 Minor histocompatibility protein HB-1; Precursor of the histocomplatibility antigen HB-1. More generally, minor histocomplatibility antigens (mHags) refer to immunogenic peptide which, when complexed with MHC, can generate an immune response after recognition by specific T-cells. The peptides are derived from polymorphic intracellular proteins, which are cleaved by normal pathways of antigen processing. The binding of these peptides to MHC class I or class II molecules and its expression on the cell surface can stimulate T-cell responses and thereby trigger graft rejection or graft-ver [...] 9606.ENSP00000289451 OR10K1 313 Olfactory receptor 10K1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000289473 NCF1 390 Neutrophil cytosol factor 1; NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production) 9606.ENSP00000289528 ZFAND2B 257 Zinc finger AN1-type containing 2B 9606.ENSP00000289547 NPC1L1 1359 Niemann-Pick C1-like protein 1; Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down- regulates its expression and secretion by inhibiting its maturati [...] 9606.ENSP00000289575 SLCO2B1 709 Solute carrier organic anion transporter family member 2B1; Mediates the Na(+)-independent transport of organic anions such as taurocholate, the prostaglandins PGD2, PGE1, PGE2, leukotriene C4, thromboxane B2 and iloprost; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000289619 PAGE5 130 PAGE family member 5; Belongs to the GAGE family 9606.ENSP00000289672 PKD1L1 2849 Polycystic kidney disease protein 1-like 1; Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning; Belongs to the polycystin family 9606.ENSP00000289707 SLAMF8 285 SLAM family member 8; May play a role in B-lineage commitment and/or modulation of signaling through the B-cell receptor; CD molecules 9606.ENSP00000289746 CDH15 814 Cadherin-15; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation 9606.ENSP00000289749 NBL1 216 Neuroblastoma suppressor of tumorigenicity 1; Possible candidate as a tumor suppressor gene of neuroblastoma. May play an important role in preventing cells from entering the final stage (G1/S) of the transformation process; Belongs to the DAN family 9606.ENSP00000289753 HTR6 440 5-hydroxytryptamine receptor 6; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase. It has a high affinity for tricyclic psychotropic drugs (By similarity). Controls pyramidal neurons migration during corticogenesis, through the regulation of CDK5 activity (By similarity). Is an activator of TOR signaling; 5-hydroxytryptamine receptors, G protein-coupled 9606.ENSP00000289788 ZSCAN23 389 Zinc finger and SCAN domain-containing protein 23; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000289805 SPATA2L 424 Spermatogenesis-associated protein 2-like protein; Spermatogenesis associated 2 like 9606.ENSP00000289877 SLC45A1 748 Proton-associated sugar transporter A; Proton-associated glucose transporter in the brain; Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family 9606.ENSP00000289902 FCER1G 86 High affinity immunoglobulin epsilon receptor subunit gamma; Associates with a variety of FcR alpha chains to form a functional signaling complex. Regulates several aspects of the immune response. The gamma subunit has a critical role in allowing the IgE Fc receptor to reach the cell surface. Also involved in collagen-mediated platelet activation and in neutrophil activation mediated by integrin; Belongs to the CD3Z/FCER1G family 9606.ENSP00000289921 FAM160B2 743 Protein FAM160B2; Family with sequence similarity 160 member B2; Belongs to the UPF0518 family 9606.ENSP00000289932 SLC5A11 675 Sodium/myo-inositol cotransporter 2; Involved in the sodium-dependent cotransport of myo- inositol (MI) with a Na(+):MI stoichiometry of 2:1. Exclusively responsible for apical MI transport and absorption in intestine. Also can transport D-chiro-inositol (DCI) but not L-fructose. Exhibits stereospecific cotransport of both D-glucose and D- xylose. May induce apoptosis through the TNF-alpha, PDCD1 pathway. May play a role in the regulation of MI concentration in serum, involving reabsorption in at least the proximal tubule of the kidney; Belongs to the sodium:solute symporter (SSF) (TC [...] 9606.ENSP00000289957 CHRNB3 458 Neuronal acetylcholine receptor subunit beta-3; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits 9606.ENSP00000289968 ARHGAP17 881 Rho GTPase-activating protein 17; Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent [...] 9606.ENSP00000289989 C8orf58 365 Uncharacterized protein C8orf58; Chromosome 8 open reading frame 58 9606.ENSP00000290015 WNT9B 357 Protein Wnt-9b; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity) 9606.ENSP00000290039 CACHD1 1223 VWFA and cache domain-containing protein 1; May regulate voltage-dependent calcium channels 9606.ENSP00000290079 TMEM141 108 Transmembrane protein 141 9606.ENSP00000290122 CELA3A 270 Chymotrypsin-like elastase family member 3A; Efficient protease with alanine specificity but only little elastolytic activity 9606.ENSP00000290130 MIS18A 233 Protein Mis18-alpha; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis 9606.ENSP00000290155 C21orf59 290 UPF0769 protein C21orf59; Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity) 9606.ENSP00000290158 KPNB1 876 Importin subunit beta-1; Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic [...] 9606.ENSP00000290167 WNT4 351 Protein Wnt-4; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue; Endogenous ligands 9606.ENSP00000290200 IL10RB 325 Interleukin-10 receptor subunit beta; Shared cell surface receptor required for the activation of five class 2 cytokines: IL10, IL22, IL26, IL28, and IFNL1. The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state 9606.ENSP00000290208 MRPL10 271 Mitochondrial ribosomal protein L10; Belongs to the universal ribosomal protein uL10 family 9606.ENSP00000290216 SCRN2 425 Secernin-2; Secernin 2; Belongs to the peptidase C69 family. Secernin subfamily 9606.ENSP00000290219 IFNGR2 337 Interferon gamma receptor 2; Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG). Ligand binding stimulates activation of the JAK/STAT signaling pathway. Required for signal transduction in contrast to other receptor subunit responsible for ligand binding; Fibronectin type III domain containing 9606.ENSP00000290231 NCOA5 579 Nuclear receptor coactivator 5; Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2) 9606.ENSP00000290246 ELMO2 720 Engulfment and cell motility protein 2; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 9606.ENSP00000290271 STC1 247 Stanniocalcin-1; Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia 9606.ENSP00000290277 ARAF 609 Serine/threonine-protein kinase A-Raf; Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily 9606.ENSP00000290291 OGFR 677 Opioid growth factor receptor; Receptor for opioid growth factor (OGF), also known as Met-enkephalin. Seems to be involved in growth regulation 9606.ENSP00000290294 PRAC1 57 PRAC1 small nuclear protein 9606.ENSP00000290295 HOXB13 284 Homeobox protein Hox-B13; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000290299 ATP5O 213 ATP synthase subunit O, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the centr [...] 9606.ENSP00000290310 KCNE2 123 Potassium voltage-gated channel subfamily E member 2; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-t [...] 9606.ENSP00000290332 CLIC6 686 Chloride intracellular channel protein 6; May insert into membranes and form chloride ion channels. May play a critical role in water-secreting cells, possibly through the regulation of chloride ion transport (By similarity) 9606.ENSP00000290341 IGF2BP1 577 Insulin-like growth factor 2 mRNA-binding protein 1; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Plays a direct role in the transport and translation of transcripts required for axonal regeneration in adult sensory neurons (By similarity). Regulates localized beta-actin/ACT [...] 9606.ENSP00000290349 CBR1 277 Carbonyl reductase [NADPH] 1; NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol. Can convert prostaglandin E2 to prostaglandin F2-alpha. Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione; Short chain dehy [...] 9606.ENSP00000290354 CBR3 277 Carbonyl reductase [NADPH] 3; Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro); Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000290363 CIART 385 Circadian-associated transcriptional repressor; Transcriptional repressor which forms a negative regulatory component of the circadian clock and acts independently of the circadian transcriptional repressors: CRY1, CRY2 and BHLHE41. In a histone deacetylase-dependent manner represses the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Abrogates the interaction of ARNTL/BMAL1 with the transcriptional coactivator CREBBP and can repress the histone acetyl-transferase activity of the CLOCK-ARNTL/BMAL1 heterodimer, reducing histone acetylation of its target genes. R [...] 9606.ENSP00000290374 GJD2 321 Gap junction delta-2 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Delta-type subfamily 9606.ENSP00000290378 ACTC1 377 Actin, alpha cardiac muscle 1; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells; Belongs to the actin family 9606.ENSP00000290390 C2orf81 588 Uncharacterized protein C2orf81; Chromosome 2 open reading frame 81 9606.ENSP00000290399 SIM2 667 Single-minded homolog 2; Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development; Basic helix-loop-helix proteins 9606.ENSP00000290401 NPTN 398 Neuroplastin; Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity); I-set domain containing 9606.ENSP00000290418 CCDC142 743 Coiled-coil domain containing 142 9606.ENSP00000290429 MCAT 390 Malonyl-CoA-acyl carrier protein transacylase, mitochondrial; Catalyzes the transfer of a malonyl moiety from malonyl- CoA to the free thiol group of the phosphopantetheine arm of the mitochondrial ACP protein (NDUFAB1). This suggests the existence of the biosynthesis of fatty acids in mitochondria 9606.ENSP00000290431 PKD2L2 613 Polycystic kidney disease 2-like 2 protein; May function as a subunit of a cation channel and play a role in fertilization; Belongs to the polycystin family 9606.ENSP00000290438 GOLGA6A 693 Golgin A6 family member A; Belongs to the GOLGA6 family 9606.ENSP00000290472 PLA2G4D 818 Cytosolic phospholipase A2 delta; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. May have a substrate specificity for linoleic acid at the sn-2 position; C2 domain containing phospholipases 9606.ENSP00000290524 RFX5 616 DNA-binding protein RFX5; Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters; Belongs to the RFX family 9606.ENSP00000290536 M1AP 530 Meiosis 1 arrest protein; Required for meiosis I progression during spermatogenesis 9606.ENSP00000290541 PSMB4 264 Proteasome subunit beta type-4; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing prot [...] 9606.ENSP00000290551 BTG2 158 Protein BTG2; Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors (By similarity). Modulates transcription regulation mediated by ESR1. Involved in mitochondrial depolarization and neurite outgrowth; Belongs to the BTG family 9606.ENSP00000290552 IRX6 446 Iroquois-class homeodomain protein IRX-6; TALE class homeoboxes and pseudogenes 9606.ENSP00000290573 HK2 917 Hexokinase-2; Hexokinase 2; Belongs to the hexokinase family 9606.ENSP00000290583 CELF3 465 CUGBP Elav-like family member 3; RNA-binding protein involved in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA 9606.ENSP00000290607 STARD9 4700 StAR-related lipid transfer protein 9; Microtubule-dependent motor protein required for spindle pole assembly during mitosis. Required to stabilize the pericentriolar material (PCM); Kinesins 9606.ENSP00000290649 AMFR 643 E3 ubiquitin-protein ligase AMFR; E3 ubiquitin-protein ligase that mediates the polyubiquitination of a number of proteins such as CD3D, CYP3A4, CFTR and APOB for proteasomal degradation. Component of a VCP/p97- AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD). The VCP/p97- AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG complex at the ER membrane and initiating ubiquitination of HMGCR. The ubiquitinated HMGCR is then released from the ER by the complex into [...] 9606.ENSP00000290650 UBR1 1749 E3 ubiquitin-protein ligase UBR1; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth; Belongs to the UBR1 family 9606.ENSP00000290663 MED8 301 Mediator of RNA polymerase II transcription subunit 8; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May play a role as a targe [...] 9606.ENSP00000290691 RGL4 473 Ral-GDS-related protein; Ral guanine nucleotide dissociation stimulator like 4 9606.ENSP00000290722 PGLYRP3 341 Peptidoglycan recognition protein 3; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram- negative bacteria, and has bacteriostatic activity towards Gram- negative bacteria. Plays a role in innate immunity; Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family 9606.ENSP00000290759 ISL2 359 Insulin gene enhancer protein ISL-2; Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways; LIM class homeoboxes 9606.ENSP00000290765 GSTT2B 244 Glutathione S-transferase theta-2B; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity; Soluble glutathione S-transferases 9606.ENSP00000290776 CPNE2 548 Copine-2; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Exhibits calcium-dependent cell membrane binding properties; Belongs to the copine family 9606.ENSP00000290846 TRMU 421 Mitochondrial tRNA-specific 2-thiouridylase 1; Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2- thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base; Belongs to the MnmA/TRMU family 9606.ENSP00000290866 ACE 1306 Angiotensin-converting enzyme; Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety; CD molecules 9606.ENSP00000290871 TEPP 298 Testis, prostate and placenta expressed 9606.ENSP00000290881 KIAA0895L 471 Uncharacterized protein KIAA0895-like; KIAA0895 like 9606.ENSP00000290894 SHF 423 SH2 domain-containing adapter protein F; Adapter protein which may play a role in the regulation of apoptosis in response to PDGF; SH2 domain containing 9606.ENSP00000290913 CHCHD6 235 MICOS complex subunit MIC25; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane; Belongs to the MICOS complex subunit Mic19 family. Metazoan Mic25 subfamily 9606.ENSP00000290921 CTBP1 440 C-terminal-binding protein 1; Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family 9606.ENSP00000290943 ANKRD18B 1011 Ankyrin repeat domain-containing protein 18B; Ankyrin repeat domain containing 9606.ENSP00000290949 ATP6V0D1 351 V-type proton ATPase subunit d 1; Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity). In aerobic conditions, involved in intracellular iron homeostasis, thus tri [...] 9606.ENSP00000290953 AGRP 132 Agouti-related protein; Plays a role in weight homeostasis. Involved in the control of feeding behavior through the central melanocortin system. Acts as alpha melanocyte-stimulating hormone antagonist by inhibiting cAMP production mediated by stimulation of melanocortin receptors within the hypothalamus and adrenal gland. Has very low activity with MC5R (By similarity). Is an inverse agonist for MC3R and MC4R being able to suppress their constitutive activity. It promotes MC3R and MC4R endocytosis in an arrestin-dependent manner; Endogenous ligands 9606.ENSP00000290974 ZFYVE28 887 Lateral signaling target protein 2 homolog; Negative regulator of epidermal growth factor receptor (EGFR) signaling. Acts by promoting EGFR degradation in endosomes when not monoubiquitinated; Belongs to the lst-2 family 9606.ENSP00000291009 PIP 146 Prolactin induced protein; Belongs to the PIP family 9606.ENSP00000291041 PSKH1 424 Serine/threonine-protein kinase H1; May be a SFC-associated serine kinase (splicing factor compartment-associated serine kinase) with a role in intranuclear SR protein (non-snRNP splicing factors containing a serine/arginine-rich domain) trafficking and pre-mRNA processing; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000291182 ZNF235 738 Zinc finger protein 235; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000291231 OR3A3 321 Olfactory receptor 3A3; Odorant receptor; Olfactory receptors, family 3 9606.ENSP00000291232 TNFRSF13C 184 Tumor necrosis factor receptor superfamily member 13C; B-cell receptor specific for TNFSF13B/TALL1/BAFF/BLyS. Promotes the survival of mature B-cells and the B-cell response; CD molecules 9606.ENSP00000291294 PTGIR 386 Prostacyclin receptor; Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase 9606.ENSP00000291295 CALM3 149 Calmodulin 3 (phosphorylase kinase, delta); Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Mediates calcium-dependent inactivation of CACNA1C. Positively regulates calcium-activated potassium channel activity of KCNN2 9606.ENSP00000291386 SSU72 194 RNA polymerase II subunit A C-terminal domain phosphatase SSU72; Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK; Belongs to the SSU72 phosphatase family 9606.ENSP00000291416 TRIM62 475 E3 ubiquitin-protein ligase TRIM62; E3 ubiquitin ligase whose activity is dependent on E2 ubiquitin-conjugating enzyme UBE2D2; Ring finger proteins 9606.ENSP00000291442 NR2F6 404 Nuclear receptor subfamily 2 group F member 6; Transcription factor predominantly involved in transcriptional repression. Binds to promoter/enhancer response elements that contain the imperfect 5'-AGGTCA-3' direct or inverted repeats with various spacings which are also recognized by other nuclear hormone receptors. Involved in modulation of hormonal responses. Represses transcriptional activity of the lutropin-choriogonadotropic hormone receptor/LHCGR gene, the renin/REN gene and the oxytocin-neurophysin/OXT gene. Represses the triiodothyronine-dependent and -independent transcription [...] 9606.ENSP00000291458 CCDC58 144 Coiled-coil domain containing 58; Belongs to the CCDC58 family 9606.ENSP00000291481 HAPLN4 402 Hyaluronan and proteoglycan link protein 4; Binds to hyaluronic acid and may be involved in formation of the extracellular matrix; V-set domain containing 9606.ENSP00000291495 CILP2 1156 Cartilage intermediate layer protein 2; May play a role in cartilage scaffolding; Immunoglobulin like domain containing 9606.ENSP00000291526 TFF2 129 Trefoil factor 2; Inhibits gastrointestinal motility and gastric acid secretion. Could function as a structural component of gastric mucus, possibly by stabilizing glycoproteins in the mucus gel through interactions with carbohydrate side chains (By similarity) 9606.ENSP00000291527 TFF1 84 Trefoil factor 1; Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine 9606.ENSP00000291532 TMPRSS3 454 Transmembrane protease serine 3; Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro); Belongs to the peptidase S1 family 9606.ENSP00000291536 RSPH1 309 Radial spoke head 1 homolog; May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes 9606.ENSP00000291539 PDE9A 593 High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A; Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP. Specifically regulates natriuretic-peptide- dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart. Additional experiments are required to confirm whether its ab [...] 9606.ENSP00000291547 PKNOX1 436 Homeobox protein PKNOX1; TALE class homeoboxes and pseudogenes 9606.ENSP00000291552 U2AFBP 240 U2 small nuclear RNA auxiliary factor 1; Plays a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron; RNA binding motif containing 9606.ENSP00000291554 HSPB4 173 Crystallin, alpha A; Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions; Small heat shock proteins 9606.ENSP00000291560 HSF2BP 334 Heat shock factor 2-binding protein; May be involved in modulating HSF2 activation in testis. Inhibits BNC1 transcriptional activity during spermatogenesis, probably by sequestering it in the cytoplasm (By similarity); Armadillo-like helical domain containing 9606.ENSP00000291565 PDXK 312 Pyridoxal kinase; Required for synthesis of pyridoxal-5-phosphate from vitamin B6; Belongs to the pyridoxine kinase family 9606.ENSP00000291568 CSTB 98 Cystatin-B; This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B; Belongs to the cystatin family 9606.ENSP00000291574 TRAPPC10 1259 Trafficking protein particle complex subunit 10; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TMEM1 family 9606.ENSP00000291576 PWP2 919 Periodic tryptophan protein 2 homolog; PWP2, small subunit processome component; UTPb subcomplex 9606.ENSP00000291577 C21orf33 268 ES1 protein homolog, mitochondrial; Glutamine amidotransferase like class 1 domain containing 9606.ENSP00000291582 AIRE 545 Autoimmune regulator; Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phos [...] 9606.ENSP00000291592 LRRC3 257 Leucine-rich repeat-containing protein 3; Leucine rich repeat containing 3 9606.ENSP00000291634 FAM207A 230 Protein FAM207A; Family with sequence similarity 207 member A 9606.ENSP00000291670 FTCD 541 Formimidoyltransferase-cyclodeaminase; Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool; In the N-terminal section; belongs to the formiminotransferase family 9606.ENSP00000291672 SPATC1L 340 Speriolin-like protein; Spermatogenesis and centriole associated 1 like 9606.ENSP00000291691 C21orf58 322 Uncharacterized protein C21orf58; Chromosome 21 open reading frame 58 9606.ENSP00000291700 S100B 92 Protein S100-B; Weakly binds calcium but binds zinc very tightly- distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonize the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Interaction with AGER after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling. Could assist ATAD3A cytoplasmic p [...] 9606.ENSP00000291707 SIGLEC12 595 Sialic acid-binding Ig-like lectin 12; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface; C2-set domain containing 9606.ENSP00000291715 CLDND2 167 Claudin domain containing 2 9606.ENSP00000291744 FCN2 313 Ficolin-2; May function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc- binding lectin. Enhances phagocytosis of S.typhimurium by neutrophils, suggesting an opsonic effect via the collagen region; Fibrinogen C domain containing 9606.ENSP00000291759 LILRA4 499 Leukocyte immunoglobulin-like receptor subfamily A member 4; Functions coreceptor to limit the innate immune responses to viral infections; signaling occurs via FCER1G. Down-regulates the production of IFNA1, IFNA2, IFNA4, IFNB1 and TNF by plasmacytoid dendritic cells that have been exposed to influenza virus or cytidine- phosphate-guanosine (CpG) dinucleotides, indicating it functions as negative regulator of TLR7 and TLR9 signaling cascades. Down- regulates interferon production in response to interaction with BST2 on HIV-1 infected cells. Activates a signaling cascade in complex wit [...] 9606.ENSP00000291823 HIPK4 616 Homeodomain-interacting protein kinase 4; Protein kinase that phosphorylates human TP53 at Ser-9, and thus induces TP53 repression of BIRC5 promoter (By similarity). May act as a corepressor of transcription factors (Potential) 9606.ENSP00000291842 SHKBP1 707 SH3KBP1-binding protein 1; Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation; Belongs to the KCTD3 family 9606.ENSP00000291860 KIR3DL3 410 Killer cell immunoglobulin-like receptor 3DL3; Receptor on natural killer cells. May inhibit the activity of NK cells thus preventing cell lysis; CD molecules 9606.ENSP00000291890 NCR1 304 Natural cytotoxicity triggering receptor 1; Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis 9606.ENSP00000291900 ZER1 766 Protein zer-1 homolog; Probably acts as target recruitment subunit in the E3 ubiquitin ligase complex ZER1-CUL2-Elongin BC; Armadillo-like helical domain containing 9606.ENSP00000291906 PKN3 889 Serine/threonine-protein kinase N3; Contributes to invasiveness in malignant prostate cancer; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily 9606.ENSP00000291934 TMEM190 177 Transmembrane protein 190 9606.ENSP00000291971 NLRP8 1048 NACHT, LRR and PYD domains-containing protein 8; Involved in inflammation; NLR family 9606.ENSP00000292035 MED27 311 Mediator of RNA polymerase II transcription subunit 27; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000292079 FXYD2 66 Sodium/potassium-transporting ATPase subunit gamma; May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase; Belongs to the FXYD family 9606.ENSP00000292090 TLCD1 247 Calfacilitin; Calcium channel facilitator that increases calcium flux by generating a larger window current and slowing inactivation of the L-type CACNA1C/CaV1.2 channel. Regulation of intracellular calcium by Calfacilitin is required for neural plate formation (By similarity); TLC domain containing 9606.ENSP00000292114 TMEM199 208 Transmembrane protein 199; Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation. May be involved in Golgi homeostasis 9606.ENSP00000292125 PSG6 435 Pregnancy specific beta-1-glycoprotein 6 9606.ENSP00000292140 PHLDB3 640 Pleckstrin homology like domain family B member 3 9606.ENSP00000292147 ETHE1 254 Persulfide dioxygenase ETHE1, mitochondrial; Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic [...] 9606.ENSP00000292169 S100A1 94 Protein S100-A1; Probably acts as a Ca(2+) signal transducer. In response to an increase in intracellular Ca(2+) levels, binds calcium which triggers a conformational change. This conformational change allows interaction of S1001A with specific target proteins, such as TPR- containing proteins, and the modulation of their activity; Belongs to the S-100 family 9606.ENSP00000292174 CXCR5 372 C-X-C chemokine receptor type 5; Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC). Involved in B-cell migration into B-cell follicles of spleen and Peyer patches but not into those of mesenteric or peripheral lymph nodes. May have a regulatory function in Burkitt lymphoma (BL) lymphomagenesis and/or B-cell differentiation; C-X-C motif chemokine receptors 9606.ENSP00000292180 FLAD1 587 FAD synthase; Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme; In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily 9606.ENSP00000292211 UBE2Q1 422 Ubiquitin-conjugating enzyme E2 Q1; Catalyzes the covalent attachment of ubiquitin to other proteins. May be involved in hormonal homeostasis in females. Involved in regulation of B4GALT1 cell surface expression, B4GALT1-mediated cell adhesion to laminin and embryoid body formation (By similarity); Ubiquitin conjugating enzymes E2 9606.ENSP00000292246 ANO10 660 Anoctamin-10; Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1; Belongs to the anoctamin family 9606.ENSP00000292301 CCR2 374 C-C chemokine receptor type 2; Receptor for the CCL2, CCL7 and CCL13 chemokines. Receptor for the beta-defensin DEFB106A/DEFB106B. Transduces a signal by increasing intracellular calcium ion levels (By similarity). Upon CCL2 ligation, mediates chemotaxis and migration induction through the activation of the PI3K cascade, the small G protein Rac and lamellipodium protrusion (Probable) 9606.ENSP00000292303 CCR5 352 C-C chemokine receptor type 5; Receptor for a number of inflammatory CC-chemokines including MIP-1-alpha, MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 R5 isolates 9606.ENSP00000292314 CCDC12 179 Coiled-coil domain containing 12; Spliceosomal Bact complex 9606.ENSP00000292330 PPP1R35 253 Protein phosphatase 1 regulatory subunit 35; Inhibits PPP1CA phosphatase activity; Protein phosphatase 1 regulatory subunits 9606.ENSP00000292363 RNF126 311 E3 ubiquitin-protein ligase RNF126; E3 ubiquitin-protein ligase that mediates ubiquitination oF target proteins. Depending on the associated E2 ligase, mediates 'Lys-48'- and 'Lys-63'-linked polyubiquitination of substrates (By similarity). Part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. Probably acts by providing the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the hydrophobic mislocalized proteins and their target [...] 9606.ENSP00000292377 GPC2 579 Glypican-2; Cell surface proteoglycan that bears heparan sulfate. May fulfill a function related to the motile behaviors of developing neurons (By similarity); Glypicans 9606.ENSP00000292385 DBN1 651 Drebrin; Drebrins might play some role in cell migration, extension of neuronal processes and plasticity of dendrites. Required for actin polymerization at immunological synapses (IS) and for CXCR4 recruitment to IS 9606.ENSP00000292401 AZGP1 298 Zinc-alpha-2-glycoprotein; Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids; Belongs to the MHC class I family 9606.ENSP00000292408 FGFR4 802 Fibroblast growth factor receptor 4; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of [...] 9606.ENSP00000292427 CYP11B1 503 Cytochrome P450 11B1, mitochondrial; Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB 9606.ENSP00000292430 LY6K 165 Lymphocyte antigen 6K; Required for sperm migration into the oviduct and male fertility by controlling binding of sperm to zona pellucida (By similarity). May play a role in cell growth; LY6/PLAUR domain containing 9606.ENSP00000292431 NACC1 527 Nucleus accumbens-associated protein 1; Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines; BEN domain containing 9606.ENSP00000292432 HK3 923 Hexokinase-3; Hexokinase 3 9606.ENSP00000292450 ZSCAN21 473 Zinc finger and SCAN domain-containing protein 21; Strong transcriptional activator; SCAN domain containing 9606.ENSP00000292475 ATP5J2 94 ATP synthase subunit f, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the centr [...] 9606.ENSP00000292476 CPSF4 269 Cleavage and polyadenylation specificity factor subunit 4; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U) 9606.ENSP00000292478 PTCD1 700 Pentatricopeptide repeat-containing protein 1, mitochondrial; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3'-processing of mitochondrial tRNAs; Belongs to the PTCD1 family 9606.ENSP00000292513 PTGER1 402 Prostaglandin E2 receptor EP1 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000292524 LRRC14 493 Leucine-rich repeat-containing protein 14; Negatively regulates Toll-like receptor-mediated NF- kappa-B signaling by disrupting IKK core complex formation through interaction with IKBKB; Belongs to the PRAME family. LRRC14 subfamily 9606.ENSP00000292530 ZNF333 665 Zinc finger protein 333; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000292539 PPP1R16A 528 Protein phosphatase 1 regulatory subunit 16A; Inhibits protein phosphatase 1 activity toward phosphorylase, myosin light chain and myosin substrates; Ankyrin repeat domain containing 9606.ENSP00000292562 ZNF251 671 Zinc finger protein 251; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000292566 ALKBH4 302 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4; Dioxygenase that mediates demethylation of actin monomethylated at 'Lys-84' (K84me1), thereby acting as a regulator of actomyosin-processes. Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. May be involved in transcription regulation; Belongs to the alkB family 9606.ENSP00000292574 CCDC105 499 Coiled-coil domain containing 105 9606.ENSP00000292579 ZNF250 560 Zinc finger protein 250; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000292586 C5orf45 343 MRN complex-interacting protein; Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex. Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair 9606.ENSP00000292596 LTC4S 150 Leukotriene C4 synthase; Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4 9606.ENSP00000292599 MAML1 1016 Mastermind-like protein 1; Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions; Belongs to the mastermind family 9606.ENSP00000292614 POLR2J 117 DNA-directed RNA polymerase II subunit RPB11-a; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity) 9606.ENSP00000292616 LRWD1 647 Leucine-rich repeat and WD repeat-containing protein 1; Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability; WD repeat d [...] 9606.ENSP00000292641 SCGB3A1 104 Secretoglobin family 3A member 1; Secreted cytokine-like protein. Inhibits cell growth in vitro; Belongs to the secretoglobin family. UGRP subfamily 9606.ENSP00000292672 CELF5 485 CUGBP Elav-like family member 5; RNA-binding protein implicated in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA 9606.ENSP00000292778 YDJC 323 Carbohydrate deacetylase; Probably catalyzes the deacetylation of acetylated carbohydrates an important step in the degradation of oligosaccharides 9606.ENSP00000292779 CCDC116 613 Coiled-coil domain containing 116 9606.ENSP00000292782 DCUN1D1 259 DCN1-like protein 1; Part of an E3 ubiquitin ligase complex for neddylation. Promotes neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes. Acts by binding to cullin-RBX1 complexes in the cytoplasm and promoting their nuclear translocation, enhancing recruitment of E2-NEDD8 (UBE2M-NEDD8) thioester to the complex, and optimizing the orientation of proteins in the complex to allow efficient transfer of NEDD8 from the E2 to the cullin substrates. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity. Acts also [...] 9606.ENSP00000292807 AP2M1 435 AP-2 complex subunit mu; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but [...] 9606.ENSP00000292823 PCYT1A 367 Choline-phosphate cytidylyltransferase A; Controls phosphatidylcholine synthesis; Belongs to the cytidylyltransferase family 9606.ENSP00000292841 ZNF585A 769 Zinc finger protein 585A; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000292852 FBXO17 278 F-box only protein 17; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex- type oligosaccharides. Also recognizes sulfated glycans. Does not bind high-mannose glycoproteins; F-boxes other 9606.ENSP00000292853 FBXO27 283 F-box only protein 27; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex- type oligosaccharides; F-boxes other 9606.ENSP00000292879 U2AF1L4 202 Splicing factor U2AF 35 kDa subunit-like protein; U2 small nuclear RNA auxiliary factor 1 like 4; RNA binding motif containing 9606.ENSP00000292894 THAP8 274 THAP domain containing 8 9606.ENSP00000292907 COX7A1 79 Cytochrome c oxidase subunit 7A1, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000292928 ZNF382 550 Zinc finger protein 382; Functions as a sequence-specific transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000293190 GRIN2C 1233 Glutamate receptor ionotropic, NMDA 2C; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition (Probable). Plays a role in regulating the balance between excitatory and inhibitory activit [...] 9606.ENSP00000293217 ACOX1 660 Peroxisomal acyl-coenzyme A oxidase 1; Catalyzes the desaturation of acyl-CoAs to 2-trans- enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy- palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl- CoA 9606.ENSP00000293230 CYGB 190 Cytoglobin; May have a protective function during conditions of oxidative stress. May be involved in intracellular oxygen storage or transfer 9606.ENSP00000293255 CABP5 173 Calcium-binding protein 5; Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials. Involved in the transmission of light signals (By similarity); EF-hand domain containing 9606.ENSP00000293261 TMEM143 459 Transmembrane protein 143 9606.ENSP00000293288 BAX 218 Apoptosis regulator BAX; Accelerates programmed cell death by binding to, and antagonizing the apoptosis repressor BCL2 or its adenovirus homolog E1B 19k protein. Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis; Belongs to the Bcl-2 family 9606.ENSP00000293303 KLHL10 608 Kelch-like protein 10; May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis; BTB domain containing 9606.ENSP00000293328 STAT5B 787 Signal transducer and activator of transcription 5B; Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation 9606.ENSP00000293330 HCRT 131 Orexin; Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary homeostatic functions. A broader role in the homeostatic regulation of energy metabolism, autonomic function, hormonal balance and the regulation of body fluids, is also suggested. Orexin-A binds to both OX1R and OX2R with a high affinity, whereas orexin-B binds only to OX2R with a similar high affinity; Endogenous ligands 9606.ENSP00000293350 ALDH16A1 802 Aldehyde dehydrogenase 16 family member A1 9606.ENSP00000293362 PSME3 267 Proteasome activator complex subunit 3; Subunit of the 11S REG-gamma (also called PA28-gamma) proteasome regulator, a doughnut-shaped homoheptamer which associates with the proteasome. 11S REG-gamma activates the trypsin-like catalytic subunit of the proteasome but inhibits the chymotrypsin-like and postglutamyl-preferring (PGPH) subunits. Facilitates the MDM2-p53/TP53 interaction which promotes ubiquitination- and MDM2-dependent proteasomal degradation of p53/TP53, limiting its accumulation and resulting in inhibited apoptosis after DNA damage. May also be involved in cell cycle regul [...] 9606.ENSP00000293373 NCKAP1L 1127 Nck-associated protein 1-like; Essential hematopoietic-specific regulator of the actin cytoskeleton (Probable). Controls lymphocyte development, activation, proliferation and homeostasis, erythrocyte membrane stability, as well as phagocytosis and migration by neutrophils and macrophages. Component of the WAVE2 complex which signals downstream of RAC to stimulate F- actin polymerization. Required for stabilization and/or translation of the WAVE2 complex proteins in hematopoietic cells (By similarity). Exhibits complex cycles of activation and inhibition to generate waves of propagating [...] 9606.ENSP00000293379 ITGA5 1049 Integrin alpha-5; Integrin alpha-5/beta-1 is a receptor for fibronectin and fibrinogen. It recognizes the sequence R-G-D in its ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1. ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1; CD molecules 9606.ENSP00000293404 NAGS 534 N-acetylglutamate synthase, mitochondrial; Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity; Belongs to the acetyltransferase family 9606.ENSP00000293405 IZUMO2 221 Izumo sperm-egg fusion protein 2; IZUMO family member 2 9606.ENSP00000293414 ASB16 453 Ankyrin repeat and SOCS box protein 16; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000293441 SHANK1 2161 SH3 and multiple ankyrin repeat domains protein 1; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction; Ankyrin repeat domain containing 9606.ENSP00000293443 FAM171A2 826 Protein FAM171A2; Family with sequence similarity 171 member A2 9606.ENSP00000293471 ZNF613 617 Zinc finger protein 613; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000293502 SDR9C7 313 Short-chain dehydrogenase/reductase family 9C member 7; Displays weak conversion of all-trans-retinal to all- trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000293549 WNT1 370 Proto-oncogene Wnt-1; Ligand for members of the frizzled family of seven transmembrane receptors. Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters. Has a role in osteoblast function and bone development 9606.ENSP00000293599 AQP5 265 Aquaporin-5; Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions. Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells; Belongs to the MIP/aquaporin (TC 1.A.8) family 9606.ENSP00000293604 C6orf136 496 Uncharacterized protein C6orf136; Chromosome 6 open reading frame 136 9606.ENSP00000293636 CELA1 258 Chymotrypsin-like elastase family member 1; Acts upon elastin 9606.ENSP00000293662 GRASP 395 General receptor for phosphoinositides 1-associated scaffold protein; Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses; PDZ domain containing 9606.ENSP00000293670 KRT83 493 Keratin, type II cuticular Hb3; Keratins, type II 9606.ENSP00000293677 RAVER1 756 Ribonucleoprotein PTB-binding 1; Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA (By similarity); RNA binding motif containing 9606.ENSP00000293695 SYCE2 218 Synaptonemal complex central element protein 2; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity); Belongs to the SYCE family 9606.ENSP00000293725 ZNF563 476 Zinc finger protein 563; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000293745 KRT72 511 Keratin, type II cytoskeletal 72; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable) 9606.ENSP00000293760 LEMD2 503 LEM domain-containing protein 2; Involved in nuclear structure organization. Required for maintaining the integrity of the nuclear envelope; LEM domain containing 9606.ENSP00000293771 ZNF653 615 Zinc finger protein 653; Transcriptional repressor. May repress NR5A1, PPARG, NR1H3, NR4A2, ESR1 and NR3C1 transcriptional activity; Zinc fingers C2H2-type 9606.ENSP00000293777 MED11 117 Mediator of RNA polymerase II transcription subunit 11; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000293778 CXCL16 273 C-X-C motif chemokine 16; Acts as a scavenger receptor on macrophages, which specifically binds to OxLDL (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis (By similarity). Induces a strong chemotactic response. Induces calcium mobilization. Binds to CXCR6/Bonzo; Belongs to the intercrine alpha (chemokine CxC) family 9606.ENSP00000293780 CHRNE 493 Acetylcholine receptor subunit epsilon; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits 9606.ENSP00000293805 BCL6B 479 B-cell CLL/lymphoma 6 member B protein; Acts as a sequence-specific transcriptional repressor in association with BCL6. May function in a narrow stage or be related to some events in the early B-cell development; BTB domain containing 9606.ENSP00000293825 TNFSF12 249 Tumor necrosis factor ligand superfamily member 12; Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion; Tumor necrosis factor superfamily 9606.ENSP00000293826 ENSG00000248871 330 TNFSF12-TNFSF13 readthrough; Belongs to the tumor necrosis factor family 9606.ENSP00000293829 FGF11 225 Fibroblast growth factor 11; Probably involved in nervous system development and function 9606.ENSP00000293831 EIF4A1 406 Eukaryotic initiation factor 4A-I; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon; Belongs to the DEAD box helicase family. eIF4A subfamily 9606.ENSP00000293845 CCDC42 316 Coiled-coil domain-containing protein 42; Required for sperm development 9606.ENSP00000293851 PRSS33 280 Serine protease 33; Serine protease that has amidolytic activity, cleaving its substrates before Arg residues 9606.ENSP00000293860 POLR3K 108 DNA-directed RNA polymerase III subunit RPC10; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-en [...] 9606.ENSP00000293872 LUC7L 371 Putative RNA-binding protein Luc7-like 1; May bind to RNA via its Arg/Ser-rich domain; Belongs to the Luc7 family 9606.ENSP00000293879 WDR90 1748 WD repeat-containing protein 90; WD repeat domain containing 9606.ENSP00000293883 WDR24 790 GATOR complex protein WDR24; As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex. It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1. In addition to its role in regulation of the TORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux 9606.ENSP00000293889 CCDC78 438 Coiled-coil domain-containing protein 78; Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome 9606.ENSP00000293894 SOX8 446 Transcription factor SOX-8; May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity); SRY-boxes 9606.ENSP00000293897 SSTR5 364 Somatostatin receptor type 5; Receptor for somatostatin 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerization 9606.ENSP00000293922 PTX4 473 Pentraxin-4; Long pentraxins 9606.ENSP00000293970 TBC1D24 559 TBC1 domain family member 24; May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function; Deafness associated genes 9606.ENSP00000293973 NTN3 580 Netrin-3; Netrins control guidance of CNS commissural axons and peripheral motor axons 9606.ENSP00000294008 SLX4 1834 Structure-specific endonuclease subunit SLX4; Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts i [...] 9606.ENSP00000294016 ADCY9 1353 Adenylate cyclase type 9; Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein- coupled receptors. Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors; Adenylate cyclases 9606.ENSP00000294053 CLPB 707 Caseinolytic peptidase B protein homolog; May function as a regulatory ATPase and be related to secretion/protein trafficking process; AAA ATPases 9606.ENSP00000294064 NEU3 461 Sialidase-3; Plays a role in modulating the ganglioside content of the lipid bilayer at the level of membrane-bound sialyl glycoconjugates; Belongs to the glycosyl hydrolase 33 family 9606.ENSP00000294066 MAP4K2 820 Mitogen-activated protein kinase kinase kinase kinase 2; Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidine (poly(IC)), lipopolysaccharides [...] 9606.ENSP00000294117 GNG3 75 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000294119 UBXN1 312 UBX domain-containing protein 1; Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling. Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibi [...] 9606.ENSP00000294129 NCKIPSD 722 NCK-interacting protein with SH3 domain; Has an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo (By similarity). In vitro, stimulates N-WASP- induced ARP2/3 complex activation in the absence of CDC42 (By similarity). May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerization and cell adhesion. Plays a role in angiogenesis 9606.ENSP00000294168 TAF6L 622 TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex; Belongs to the TAF6 family 9606.ENSP00000294179 STX5 355 Syntaxin-5; Mediates endoplasmic reticulum to Golgi transport. Together with p115/USO1 and GM130/GOLGA2, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus; Syntaxins 9606.ENSP00000294244 C11orf84 381 SPIN1-docking protein; Negatively regulates the transcriptional activator activity of SPIN1 via inhibition of its histone methyl-binding ability. Represses the expression of a number of SPIN1-regulated genes and the SPIN1-mediated activation of the Wnt signaling pathway. Can also inhibit the histone methyl-binding abilities of SPIN2A, SPIN2B, SPIN3 and SPIN4 9606.ENSP00000294258 ZFPL1 310 Zinc finger protein-like 1; Required for cis-Golgi integrity and efficient ER to Golgi transport. Involved in the maintenance of the integrity of the cis-Golgi, possibly via its interaction with GOLGA2/GM130 9606.ENSP00000294288 CABP2 220 Calcium binding protein 2; EF-hand domain containing 9606.ENSP00000294304 LRP5 1615 Low-density lipoprotein receptor-related protein 5; Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor- ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. Plays a role in norrin (NDP) signal transduction. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN [...] 9606.ENSP00000294309 TPCN2 752 Two pore calcium channel protein 2; Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily 9606.ENSP00000294312 FGF19 216 Fibroblast growth factor 19; Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4; Belongs to the heparin-binding growth factors family 9606.ENSP00000294338 PDZK1IP1 114 PDZK1-interacting protein 1; May play an important role in tumor biology 9606.ENSP00000294339 TAL1 331 T-cell acute lymphocytic leukemia protein 1; Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000294353 ZYG11B 744 Protein zyg-11 homolog B; Probably acts as target recruitment subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC; Armadillo-like helical domain containing 9606.ENSP00000294360 C1orf123 160 UPF0587 protein C1orf123; Chromosome 1 open reading frame 123; Belongs to the UPF0587 family 9606.ENSP00000294383 USP24 2620 Ubiquitin carboxyl-terminal hydrolase 24; Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Deubiquitinates DDB2, preventing its proteasomal degradation; Ubiquitin specific peptidases 9606.ENSP00000294409 GMEB1 573 Glucocorticoid modulatory element-binding protein 1; Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Binds also to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses 9606.ENSP00000294413 RHCE 417 Blood group Rh(CE) polypeptide; May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane; Blood group antigens 9606.ENSP00000294435 RBP7 134 Retinoid-binding protein 7; Intracellular transport of retinol; Fatty acid binding protein family 9606.ENSP00000294454 SLC25A34 304 Solute carrier family 25 member 34 9606.ENSP00000294484 PTCHD2 1392 Protein dispatched homolog 3; Plays a role in neuronal proliferation and differentiation. Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation. May contribute to cholesterol homeostasis in neuronal cells (By similarity) 9606.ENSP00000294485 DRAXIN 349 Draxin; Chemorepulsive axon guidance protein required for the development of spinal cord and forebrain commissures. Acts as a chemorepulsive guidance protein for commissural axons during development. Able to inhibit or repel neurite outgrowth from dorsal spinal cord. Inhibits the stabilization of cytosolic beta- catenin (CTNNB1) via its interaction with LRP6, thereby acting as an antagonist of Wnt signaling pathway; Belongs to the draxin family 9606.ENSP00000294489 PDPN 238 Podoplanin; Mediates effects on cell migration and adhesion through its different partners. During development plays a role in blood and lymphatic vessels separation by binding CLEC1B, triggering CLEC1B activation in platelets and leading to platelet activation and/or aggregation. Interaction with CD9, on the contrary, attenuates platelet aggregation induced by PDPN. Through MSN or EZR interaction promotes epithelial-mesenchymal transition (EMT) leading to ERZ phosphorylation and triggering RHOA activation leading to cell migration increase and invasiveness. Interaction with CD44 promo [...] 9606.ENSP00000294507 LAPTM5 262 Lysosomal-associated transmembrane protein 5; May have a special functional role during embryogenesis and in adult hematopoietic cells; Belongs to the LAPTM4/LAPTM5 transporter family 9606.ENSP00000294517 AZIN2 460 Antizyme inhibitor 2; Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme- binding. Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production. Participates in the morphological integrity of the [...] 9606.ENSP00000294543 TMCO4 634 Transmembrane and coiled-coil domains 4; Belongs to the TMCO4 family 9606.ENSP00000294600 CCDC27 656 Coiled-coil domain containing 27 9606.ENSP00000294618 DOCK6 2047 Dedicator of cytokinesis protein 6; Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity); DOCK C2 domain containing 9606.ENSP00000294635 LRRC53 1247 Leucine-rich repeat-containing protein 53; Leucine rich repeat containing 53 9606.ENSP00000294638 LHX8 356 LIM/homeobox protein Lhx8; Transcription factor involved in differentiation of certain neurons and mesenchymal cells; LIM class homeoboxes 9606.ENSP00000294664 WDR63 891 WD repeat-containing protein 63; WD repeat domain containing 9606.ENSP00000294671 GBP7 638 Guanylate-binding protein 7; Hydrolyzes GTP to GMP in two consecutive cleavage reactions. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity) 9606.ENSP00000294724 AGL 1532 Glycogen debranching enzyme; Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4- alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6- glucosidase in glycogen degradation; Belongs to the glycogen debranching enzyme family 9606.ENSP00000294725 KCNT2 1135 Potassium channel subfamily T member 2; Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. Activated by high intracellular sodium and chloride levels. Channel activity is inhibited by ATP and by inhalation anesthetics, such as isoflurane (By similarity). Inhibited upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1; Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa4.2/KCNT2 sub-subfamily 9606.ENSP00000294728 VCAM1 739 Vascular cell adhesion protein 1; Important in cell-cell recognition. Appears to function in leukocyte-endothelial cell adhesion. Interacts with integrin alpha-4/beta-1 (ITGA4/ITGB1) on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/ITGA4/ITGB1 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation; C2-set domain containing 9606.ENSP00000294740 ZNF281 895 Zinc finger protein 281; Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G- rich box in the enhancer region of these genes; Zinc fin [...] 9606.ENSP00000294742 ARPC5 154 Actin-related protein 2/3 complex subunit 5; Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks 9606.ENSP00000294753 ZNF496 587 Zinc finger protein 496; DNA-binding transcription factor that can both act as an activator and a repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000294785 NCSTN 709 Nicastrin; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma- secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels 9606.ENSP00000294811 C1orf74 269 UPF0739 protein C1orf74; Chromosome 1 open reading frame 74; Belongs to the UPF0739 family 9606.ENSP00000294818 LRRC52 313 Leucine-rich repeat-containing protein 52; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties 9606.ENSP00000294829 FAM71A 594 Protein FAM71A; Family with sequence similarity 71 member A; Belongs to the FAM71 family 9606.ENSP00000294889 C1orf115 142 Uncharacterized protein C1orf115; Chromosome 1 open reading frame 115 9606.ENSP00000294904 RBMS1 406 RNA-binding motif, single-stranded-interacting protein 1; Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication 9606.ENSP00000294952 PPP1R21 780 Protein phosphatase 1 regulatory subunit 21 9606.ENSP00000294954 LHCGR 699 Lutropin-choriogonadotropic hormone receptor; Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Glycoprotein hormone receptors 9606.ENSP00000294964 PKDCC 493 Extracellular tyrosine-protein kinase PKDCC; Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29. Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation. May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation [...] 9606.ENSP00000294973 HAAO 286 3-hydroxyanthranilate 3,4-dioxygenase; Catalyzes the oxidative ring opening of 3- hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate; Belongs to the 3-HAO family 9606.ENSP00000295006 CAPN2 700 Calpain-2 catalytic subunit; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Proteolytically cleaves MYOC at 'Arg-226'. Proteolytically cleaves CPEB3 following neuronal stimulation which abolishes CPEB3 translational repressor activity, leading to translation of CPEB3 target mRNAs (By similarity); Calpains 9606.ENSP00000295012 C1orf145 113 Uncharacterized protein OBSCN-AS1; Chromosome 1 open reading frame 145 9606.ENSP00000295025 REL 619 Proto-oncogene c-Rel; Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF- kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct prefere [...] 9606.ENSP00000295030 PEX13 403 Peroxisomal membrane protein PEX13; Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins; Peroxins 9606.ENSP00000295049 RFTN2 501 Raftlin-2; Raftlin family member 2; Belongs to the raftlin family 9606.ENSP00000295050 SPRTN 489 SprT-like domain-containing protein Spartan; Regulator of UV-induced DNA damage response: acts as a 'reader' of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis (TLS). Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Acts as a regulator of TLS by recruiting VCP/p97 to [...] 9606.ENSP00000295055 CAPN13 669 Calpain-13; Probable non-lysosomal thiol-protease; Calpains 9606.ENSP00000295057 LRRTM1 522 Leucine-rich repeat transmembrane neuronal protein 1; Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation, acting at both pre- and postsynaptic level; Belongs to the LRRTM family 9606.ENSP00000295065 MEMO1 297 Protein MEMO1; May control cell migration by relaying extracellular chemotactic signals to the microtubule cytoskeleton. Mediator of ERBB2 signaling. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization. Is required for breast carcinoma cell migration 9606.ENSP00000295079 C2orf47 291 m-AAA protease-interacting protein 1, mitochondrial; Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation. Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) 9606.ENSP00000295082 KCNF1 494 Potassium voltage-gated channel subfamily F member 1; Putative voltage-gated potassium channel; Belongs to the potassium channel family. F (TC 1.A.1.2) subfamily. Kv5.1/KCNF1 sub-subfamily 9606.ENSP00000295083 PQLC3 202 PQ-loop repeat-containing protein 3; PQ loop repeat containing 3 9606.ENSP00000295087 ARL5A 179 ADP-ribosylation factor-like protein 5A; Lacks ADP-ribosylation enhancing activity; ARF GTPase family 9606.ENSP00000295092 FAM84A 292 Protein FAM84A; Family with sequence similarity 84 member A 9606.ENSP00000295095 ARHGAP15 475 Rho GTPase-activating protein 15; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has activity toward RAC1. Overexpression results in an increase in actin stress fibers and cell contraction; Pleckstrin homology domain containing 9606.ENSP00000295101 KCNJ3 501 G protein-activated inward rectifier potassium channel 1; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating t [...] 9606.ENSP00000295108 NEUROD1 356 Neurogenic differentiation factor 1; Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or [...] 9606.ENSP00000295113 FRZB 325 Secreted frizzled-related protein 3; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development 9606.ENSP00000295119 NUP35 326 Nucleoporin NUP53; Functions as a component of the nuclear pore complex (NPC). NPC components, collectively referred to as nucleoporins (NUPs). Can play the role of both NPC structural components and of docking or interaction partners for transiently associated nuclear transport factors. May play a role in the association of MAD1 with the NPC 9606.ENSP00000295121 ENSG00000243667 357 Uncharacterized protein DKFZp434B156; Seems to act as a modulator of apoptosis; WD repeat domain containing 9606.ENSP00000295124 CCDC138 665 Coiled-coil domain containing 138 9606.ENSP00000295131 ZSWIM2 633 E3 ubiquitin-protein ligase ZSWIM2; E3 ubiquitin-protein ligase involved in the regulation of Fas-, DR3- and DR4-mediated apoptosis. Functions in conjunction with the UBE2D1, UBE2D3 and UBE2E1 E2 ubiquitin-conjugating enzymes; Ring finger proteins 9606.ENSP00000295148 C2orf44 721 WD repeat and coiled-coil-containing protein; Chromosome 2 open reading frame 44 9606.ENSP00000295150 FAM228A 206 Protein FAM228A; Family with sequence similarity 228 member A; Belongs to the FAM228 family 9606.ENSP00000295171 CCDC74A 378 Coiled-coil domain containing 74A 9606.ENSP00000295190 SLC16A14 510 Monocarboxylate transporter 14; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane; Solute carriers 9606.ENSP00000295201 TEKT4 435 Tektin-4; Structural component of ciliary and flagellar microtubules. Forms filamentous polymers in the walls of ciliary and flagellar microtubules (By similarity); Tektins 9606.ENSP00000295206 EN1 392 Homeobox protein engrailed-1; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000295208 ZNF514 400 Zinc finger protein 514; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000295213 SPATA18 538 Mitochondria-eating protein; Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade [...] 9606.ENSP00000295225 KCNIP3 256 Calsenilin; Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity); EF-hand domain containing 9606.ENSP00000295226 CCDC140 163 Coiled-coil domain containing 140 9606.ENSP00000295228 INHBB 407 Inhibin beta B chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins; Endogenous ligands 9606.ENSP00000295240 BBS5 341 Bardet-Biedl syndrome 5 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] 9606.ENSP00000295256 HPGDS 199 Hematopoietic prostaglandin D synthase; Bifunctional enzyme which catalyzes both the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation, and the conjugation of glutathione with a wide range of aryl halides and organic isothiocyanates. Also exhibits low glutathione-peroxidase activity towards cumene hydroperoxide; Belongs to the GST superfamily. Sigma family 9606.ENSP00000295266 PDHA2 388 Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle 9606.ENSP00000295268 STPG2 459 Sperm-tail PG-rich repeat-containing protein 2; Sperm tail PG-rich repeat containing 2 9606.ENSP00000295269 SLC9A4 798 Sodium/hydrogen exchanger 4; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction. May play a specialized role in the kidney in rectifying cell volume in response to extreme fluctuations of hyperosmolar-stimulated cell shrinkage. Is relatively amiloride and ethylisopropylamiloride (EIPA) insensitive. Can be activated under conditions of hyperosmolar-induced cell shrinkage in a sustained int [...] 9606.ENSP00000295297 C1QTNF7 296 Complement C1q tumor necrosis factor-related protein 7; C1q and TNF related 7 9606.ENSP00000295304 CHAC2 184 Glutathione-specific gamma-glutamylcyclotransferase 2; Catalyzes the cleavage of glutathione into 5-oxo-L- proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides 9606.ENSP00000295314 TMOD4 345 Tropomodulin-4; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton; Tropomodulins 9606.ENSP00000295317 RNF149 400 E3 ubiquitin-protein ligase RNF149; E3 ubiquitin-protein ligase. Ubiquitinates BRAF, inducing its proteasomal degradation; Ring finger proteins 9606.ENSP00000295321 IWS1 819 Protein IWS1 homolog; Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) [...] 9606.ENSP00000295324 CDC42EP3 254 Cdc42 effector protein 3; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts; Belongs to the BORG/CEP family 9606.ENSP00000295379 BMP10 424 Bone morphogenetic protein 10; Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines; Belongs to the TGF-beta family 9606.ENSP00000295400 TGFA 160 Protransforming growth factor alpha; TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar 9606.ENSP00000295408 MERTK 999 Tyrosine-protein kinase Mer; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation [...] 9606.ENSP00000295448 GNPDA2 276 Glucosamine-6-phosphate deaminase 2 9606.ENSP00000295452 GABRG1 465 Gamma-aminobutyric acid receptor subunit gamma-1; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000295453 ALPPL2 532 Alkaline phosphatase, placental like 2 9606.ENSP00000295454 GABRB1 474 Gamma-aminobutyric acid receptor subunit beta-1; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000295461 NIPAL1 410 Magnesium transporter NIPA3; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity) 9606.ENSP00000295463 ALPI 528 Alkaline phosphatase, intestinal 9606.ENSP00000295488 HELQ 1101 Helicase POLQ-like; Single-stranded DNA-dependent ATPase and 5' to 3' DNA helicase. Involved in the repair of DNA cross- links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with POLN polymerase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links; Belongs to the helicase family. SKI2 subfamily 9606.ENSP00000295491 MRPS18C 142 Mitochondrial ribosomal protein S18C 9606.ENSP00000295522 CLDN1 211 Claudin-1; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN1 is required to prevent the paracellular diffusion of small molecules through tight junctions in the epidermis and is required for the normal barrier function of the skin. [...] 9606.ENSP00000295542 DCST1 706 E3 ubiquitin-protein ligase DCST1; E3 ubiquitin-protein ligase which mediates 'Lys-48'- linked ubiquitination of STAT2 and induces its proteosomal degradation thereby negatively regulating type-I-interferon signaling; Ring finger proteins 9606.ENSP00000295550 COL6A3 3177 Collagen alpha-3(VI) chain; Collagen VI acts as a cell-binding protein; Collagens 9606.ENSP00000295569 FAM19A4 140 Protein FAM19A4; Family with sequence similarity 19 member A4, C-C motif chemokine like 9606.ENSP00000295588 POGLUT1 392 Protein O-glucosyltransferase 1; Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C. Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2. Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development. Notch glucosylation does not affect Notch ligand binding. Required during early development to promote gastrulation: acts by mediating O- g [...] 9606.ENSP00000295589 CCKAR 428 Cholecystokinin receptor type A; Receptor for cholecystokinin. Mediates pancreatic growth and enzyme secretion, smooth muscle contraction of the gall bladder and stomach. Has a 1000-fold higher affinity for CCK rather than for gastrin. It modulates feeding and dopamine-induced behavior in the central and peripheral nervous system. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system 9606.ENSP00000295600 MITF 520 Microphthalmia-associated transcription factor; Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocyt [...] 9606.ENSP00000295619 PROK2 129 Prokineticin-2; May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle; Endogenous ligands 9606.ENSP00000295622 C3orf30 536 Uncharacterized protein C3orf30; Chromosome 3 open reading frame 30 9606.ENSP00000295628 LRRC58 371 Leucine-rich repeat-containing protein 58; Leucine rich repeat containing 58 9606.ENSP00000295633 FSTL1 308 Follistatin-related protein 1; May modulate the action of some growth factors on cell proliferation and differentiation. Binds heparin (By similarity); SPARC family 9606.ENSP00000295640 RNPEP 650 Aminopeptidase B; Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(- 1)-Lys(0)-somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) (By similarity) 9606.ENSP00000295641 STK11IP 1099 Serine/threonine-protein kinase 11-interacting protein; May regulate STK11/LKB1 function by controlling its subcellular localization 9606.ENSP00000295645 PDCL2 241 Phosducin-like protein 2; May play a role in germ cell maturation 9606.ENSP00000295666 IGFBP7 282 Insulin-like growth factor-binding protein 7; Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion; I-set domain containing 9606.ENSP00000295682 KRTCAP2 162 Keratinocyte-associated protein 2; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for efficient substrate- specific N-glycosylation probably involving the STT3A-containing OST complex. May be involved in N-glycosylation of APP (amyloid- beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1; Belong [...] 9606.ENSP00000295683 CXCR1 350 C-X-C chemokine receptor type 1; Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity; C-X-C motif chemokine receptors 9606.ENSP00000295685 ARPC2 300 Actin-related protein 2/3 complex subunit 2; Functions as actin-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Seems to contact the mother actin filament; Belongs to the ARPC2 family 9606.ENSP00000295688 CCT3 545 T-complex protein 1 subunit gamma; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin; Chaperonins 9606.ENSP00000295702 SSR2 183 Translocon-associated protein subunit beta; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins; Belongs to the TRAP-beta family 9606.ENSP00000295704 RNF25 459 E3 ubiquitin-protein ligase RNF25; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NKD2 (By similarity). Stimulates transcription mediated by NF-kappa-B; Ring finger proteins 9606.ENSP00000295709 STK36 1315 Serine/threonine-protein kinase 36; Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors. Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization. GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur. Required for postnatal development, possibly by regulating the homeostasis of c [...] 9606.ENSP00000295718 PTPRN 979 Receptor-type tyrosine-protein phosphatase-like N; Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets (By similarity). Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain (By similarity). In females, but not in males, required for normal accumulation [...] 9606.ENSP00000295727 FEV 238 Protein FEV; Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth; ETS transcription factor family 9606.ENSP00000295728 CRYBA2 197 Beta-crystallin A2; Crystallins are the dominant structural components of the vertebrate eye lens 9606.ENSP00000295731 IHH 411 Indian hedgehog protein; Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity); Belongs to the hedgehog family 9606.ENSP00000295736 SLC4A7 1214 Sodium bicarbonate cotransporter 3; Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry. Regulates intracellular pH and may play a role in bicarbonate salvage in secretory epithelia. May also have an associated sodium channel activity; Solute carriers 9606.ENSP00000295746 KIAA1524 905 Protein CIP2A; Oncoprotein that inhibits PP2A and stabilizes MYC in human malignancies. Promotes anchorage-independent cell growth and tumor formation 9606.ENSP00000295755 RETNLB 111 Resistin-like beta; Probable hormone; Belongs to the resistin/FIZZ family 9606.ENSP00000295756 TRAT1 186 T-cell receptor-associated transmembrane adapter 1; Stabilizes the TCR (T-cell antigen receptor)/CD3 complex at the surface of T-cells 9606.ENSP00000295757 HDAC11 347 Histone deacetylase 11; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes 9606.ENSP00000295759 GLB1L 654 Beta-galactosidase-1-like protein; Probable glycosyl hydrolase 9606.ENSP00000295767 CHCHD4 155 Mitochondrial intermembrane space import and assembly protein 40; Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17 or MICU1. Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protei [...] 9606.ENSP00000295770 STT3B 826 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B; Catalytic subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). STT3B is present in a small subset of [...] 9606.ENSP00000295777 SERPINI1 410 Neuroserpin; Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin. May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable); Serpin peptidase inhibitors 9606.ENSP00000295797 PRKCI 596 Protein kinase C iota type; Calcium- and diacylglycerol-independent serine/ threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukemia cells, protecting leukemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process a [...] 9606.ENSP00000295802 RETSAT 610 All-trans-retinol 13,14-reductase; Catalyzes the saturation of all-trans-retinol to all- trans-13,14-dihydroretinol. Does not exhibit any activity toward all-trans-retinoic acid, nor 9-cis, 11-cis or 13-cis-retinol isomers. May play a role in the metabolism of vitamin A. Independently of retinol conversion, may regulate liver metabolism upstream of MLXIPL/ChREBP. May play a role in adipocyte differentiation; Belongs to the carotenoid/retinoid oxidoreductase family. CrtISO subfamily 9606.ENSP00000295822 EIF5A2 153 Eukaryotic translation initiation factor 5A-2; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By s [...] 9606.ENSP00000295824 EFHB 833 EF-hand domain family member B; Cilia and flagella associated 9606.ENSP00000295834 FABP1 127 Fatty acid-binding protein, liver; Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes. Binds cholesterol. Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (By similarity); Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000295851 ABI2 513 Abl interactor 2; May act in regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Regulates ABL1/c-Abl-mediated phosphorylation of MENA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity) 9606.ENSP00000295872 SPICE1 855 Spindle and centriole-associated protein 1; Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis 9606.ENSP00000295878 KIAA1407 936 Coiled-coil domain-containing protein 191; KIAA1407 9606.ENSP00000295886 NKX6-1 367 Homeobox protein Nkx-6.1; Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in transcriptional regulation in islet beta cells. Binds to the insulin promoter and is involved in regulation of the insulin gene. Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (By similarity); NKL subclass homeoboxes and pseudogenes 9606.ENSP00000295887 CDS1 461 Phosphatidate cytidylyltransferase 1; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol (PtdIns), phosphatidylglycerol, and cardiolipin. Overexpression may amplify cellular signaling responses from cytokines. May also play an important role in the signal transduction mechanism of retina and neural cells 9606.ENSP00000295888 WDFY3 3526 WD repeat and FYVE domain-containing protein 3; Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5-ATG12-ATG16L E3-like ligase, SQSTM1 and LC3. Along with p62/SQSTM1, involved in the formation and autophagic degradation of cytoplasmic ubiquitin- containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with SQSTM1, required to recruit ubiquitinated proteins to PML bodies in the nucleus. Important for normal brain developmen [...] 9606.ENSP00000295896 C3orf49 292 Putative uncharacterized protein C3orf49; Chromosome 3 open reading frame 49 9606.ENSP00000295897 ALB 609 Serum albumin; Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc; Belongs to the ALB/AFP/VDB family 9606.ENSP00000295899 THOC7 204 THO complex subunit 7 homolog; Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm vi [...] 9606.ENSP00000295902 PRICKLE2 844 Prickle planar cell polarity protein 2; LIM domain containing 9606.ENSP00000295910 ERICH6 663 Glutamate-rich protein 6; Glutamate rich 6 9606.ENSP00000295926 CCNL1 526 Cyclin-L1; Involved in pre-mRNA splicing. Functions in association with cyclin-dependent kinases (CDKs). Inhibited by the CDK-specific inhibitor CDKN1A/p21. May play a role in the regulation of RNA polymerase II (pol II). May be a candidate proto-oncogene in head and neck squamous cell carcinomas (HNSCC) 9606.ENSP00000295927 PTX3 381 Pentraxin-related protein PTX3; Plays a role in the regulation of innate resistance to pathogens, inflammatory reactions, possibly clearance of self- components and female fertility; Long pentraxins 9606.ENSP00000295934 HESX1 185 Homeobox expressed in ES cells 1; Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation; Belongs to the ANF homeobox family 9606.ENSP00000295951 SLMAP 811 Sarcolemmal membrane-associated protein; May play a role during myoblast fusion; STRIPAK complex 9606.ENSP00000295958 SMIM14 99 Small integral membrane protein 14 9606.ENSP00000295966 C3orf67 563 Uncharacterized protein C3orf67; Chromosome 3 open reading frame 67 9606.ENSP00000295981 IL17RC 791 Interleukin-17 receptor C; Isoform 8: Receptor for both IL17A and IL17F; Interleukin receptors 9606.ENSP00000295987 SYN1 705 Synapsin-1; Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level; Synapsins 9606.ENSP00000295992 PCOLCE2 415 Procollagen C-endopeptidase enhancer 2; Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1 9606.ENSP00000296003 MTMR14 650 Myotubularin-related protein 14; Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3; Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily 9606.ENSP00000296015 TTC14 770 Tetratricopeptide repeat domain containing 9606.ENSP00000296026 CXCL3 107 C-X-C motif chemokine 3; Ligand for CXCR2 (By similarity). Has chemotactic activity for neutrophils. May play a role in inflammation and exert its effects on endothelial cells in an autocrine fashion. In vitro, the processed form GRO-gamma(5-73) shows a fivefold higher chemotactic activity for neutrophilic granulocytes; Chemokine ligands 9606.ENSP00000296027 CXCL5 114 C-X-C motif chemokine 5; Involved in neutrophil activation. In vitro, ENA-78(8- 78) and ENA-78(9-78) show a threefold higher chemotactic activity for neutrophil granulocytes; Chemokine ligands 9606.ENSP00000296028 PPBP 128 Platelet basic protein; LA-PF4 stimulates DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by human synovial cells. NAP-2 is a ligand for CXCR1 and CXCR2, and NAP-2, NAP-2(73), NAP-2(74), NAP-2(1-66), and most potent NAP-2(1-63) are chemoattractants and activators for neutrophils. TC-1 and TC-2 are antibacterial proteins, in vitro released from activated platelet alpha-granules. CTAP-III(1-81) is more po [...] 9606.ENSP00000296029 PF4 101 Platelet factor 4; Released during platelet aggregation. Neutralizes the anticoagulant effect of heparin because it binds more strongly to heparin than to the chondroitin-4-sulfate chains of the carrier molecule. Chemotactic for neutrophils and monocytes. Inhibits endothelial cell proliferation, the short form is a more potent inhibitor than the longer form; Belongs to the intercrine alpha (chemokine CxC) family 9606.ENSP00000296043 SHROOM3 1996 Protein Shroom3; Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers. Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity); Belongs to the shroom family 9606.ENSP00000296046 CPA3 417 M14 carboxypeptidases 9606.ENSP00000296051 HPS3 1004 Hermansky-Pudlak syndrome 3 protein; Involved in early stages of melanosome biogenesis and maturation; Biogenesis of lysosomal organelles complex 2 9606.ENSP00000296059 TM4SF18 201 Transmembrane 4 L six family member 18 9606.ENSP00000296088 SNRK 765 SNF-related serine/threonine-protein kinase; May play a role in hematopoietic cell proliferation or differentiation. Potential mediator of neuronal apoptosis; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000296091 ZNF502 544 Zinc finger protein 502; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000296096 TCF23 214 Transcription factor 23; Inhibits E-box-mediated binding and transactivation of bHLH factors. Inhibitory effect is similar to that of ID proteins. Inhibits the formation of TCF3 and MYOD1 homodimers and heterodimers. Lacks DNA binding activity. Seems to play a role in the inhibition of myogenesis (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000296097 DNAJC5G 189 DnaJ heat shock protein family member C5 gamma 9606.ENSP00000296098 TRIM54 400 Tripartite motif containing 54; Ring finger proteins 9606.ENSP00000296099 UCN 124 Urocortin; Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH). Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta. Plays a role in the establishment of normal hearing thresholds (By similarity). Reduces food intake and regulates ghrelin levels in gastric body and plasma (By similarity); Endogenous ligands 9606.ENSP00000296102 MRPL33 65 Mitochondrial ribosomal protein L33 9606.ENSP00000296121 KIAA1143 154 Uncharacterized protein KIAA1143; KIAA1143 9606.ENSP00000296125 TGM4 684 Protein-glutamine gamma-glutamyltransferase 4; Associated with the mammalian reproductive process. Catalyzes the cross-linking of proteins and the conjugation of polyamines to specific proteins in the seminal tract; Transglutaminases 9606.ENSP00000296127 ZDHHC3 327 Palmitoyltransferase ZDHHC3; Palmitoyltransferase with broad specificity. Palmitoylates GABA receptors on their gamma subunit (GABRG1, GABRG2 and GABRG3), which regulates synaptic clustering and/or cell surface stability (By similarity). Palmitoylates glutamate receptors GRIA1 and GRIA2, which leads to their retention in Golgi. May also palmitoylate DLG4, DNAJC5 and SNAP25 (By similarity) 9606.ENSP00000296129 CDCP1 836 CUB domain-containing protein 1; May be involved in cell adhesion and cell matrix association. May play a role in the regulation of anchorage versus migration or proliferation versus differentiation via its phosphorylation. May be a novel marker for leukemia diagnosis and for immature hematopoietic stem cell subsets. Belongs to the tetraspanin web involved in tumor progression and metastasis; CD molecules 9606.ENSP00000296130 CLEC3B 202 Tetranectin; Tetranectin binds to plasminogen and to isolated kringle 4. May be involved in the packaging of molecules destined for exocytosis; C-type lectin domain containing 9606.ENSP00000296135 LZTFL1 299 Leucine zipper transcription factor-like protein 1; Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function; Belongs to the LZTFL1 family 9606.ENSP00000296137 FYCO1 1478 FYVE and coiled-coil domain-containing protein 1; May mediate microtubule plus end-directed vesicle transport; GOLD domain containing 9606.ENSP00000296140 CCR1 355 C-C chemokine receptor type 1; Receptor for a C-C type chemokine. Binds to MIP-1-alpha, MIP-1-delta, RANTES, and MCP-3 and, less efficiently, to MIP-1- beta or MCP-1 and subsequently transduces a signal by increasing the intracellular calcium ions level. Responsible for affecting stem cell proliferation 9606.ENSP00000296142 RTP3 232 Receptor-transporting protein 3; Promotes functional cell surface expression of the bitter taste receptors TAS2R16 and TAS2R43; Belongs to the TMEM7 family 9606.ENSP00000296145 TDGF1 188 Teratocarcinoma-derived growth factor 1; GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated TDGF1 acts as a Nodal coreceptor in cis. Shedding of TDGF1 by TMEM8A modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells. Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm 9606.ENSP00000296149 ELP6 266 Elongator complex protein 6; Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration 9606.ENSP00000296161 DTX3L 740 E3 ubiquitin-protein ligase DTX3L; E3 ubiquitin-protein ligase which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses. Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4. In response to DNA damage, mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1). The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 'Lys-20' methylation (H4K20me). PARP1-depen [...] 9606.ENSP00000296181 ITGB5 799 Integrin beta-5; Integrin alpha-V/beta-5 (ITGAV:ITGB5) is a receptor for fibronectin. It recognizes the sequence R-G-D in its ligand 9606.ENSP00000296215 SNIP1 396 Smad nuclear-interacting protein 1; Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA 9606.ENSP00000296218 DNALI1 280 Axonemal dynein light intermediate polypeptide 1; May play a dynamic role in flagellar motility; Belongs to the inner dynein arm light chain family 9606.ENSP00000296220 OSBPL11 747 Oxysterol-binding protein-related protein 11; Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage. Weakly binds 25- hydroxycholesterol; Belongs to the OSBP family 9606.ENSP00000296233 KLF15 416 Krueppel-like factor 15; Transcriptional regulator that binds to the GA element of the CLCNKA promoter. Binds to the KCNIP2 promoter and regulates KCNIP2 circadian expression in the heart (By similarity). Is a repressor of CTGF expression, involved in the control of cardiac fibrosis. It is also involved in the control of cardiac hypertrophy acting through the inhibition of MEF2A and GATA4 (By similarity). Involved in podocyte differentiation (By similarity). Inhibits MYOCD activity. Is a negative regulator of TP53 acetylation. Inhibits NF-kappa-B activation through repression of EP300- [...] 9606.ENSP00000296238 CAMK2N2 79 Calcium/calmodulin-dependent protein kinase II inhibitor 2; Potent and specific cellular inhibitor of CaM-kinase II (CAMK2). Traps Ca(2+)/calmodulin on CAMK2. May play an important role in the regulation of cell growth when overexpressed in colon adenocarcinoma LoVo cells. Traps Ca(2+)/calmodulin on CAMK2 9606.ENSP00000296252 LIPH 451 Lipase member H; Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG); Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000296255 RPN1 607 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1; Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains; Belongs to the OST1 family 9606.ENSP00000296257 SENP2 589 Sentrin-specific protease 2; Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. May down-regulate CTNNB1 levels and thereby modulate th [...] 9606.ENSP00000296266 IFT122 1292 Intraflagellar transport protein 122 homolog; Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity); Intraflagellar transport proteins 9606.ENSP00000296271 RHO 348 Rhodopsin; Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily 9606.ENSP00000296277 RPL39L 51 Ribosomal protein L39 like; Belongs to the eukaryotic ribosomal protein eL39 family 9606.ENSP00000296280 MASP1 728 Mannan binding lectin serine peptidase 1 9606.ENSP00000296292 RFT1 541 Protein RFT1 homolog; May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane 9606.ENSP00000296318 IL17RD 739 Interleukin-17 receptor D; Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation. May inhibit FGF-induced FGFR1 tyrosine phosphorylation. Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK. Mediates JNK activation and may be involved in apoptosis. Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity); Interleukin receptors 9606.ENSP00000296326 ZDHHC19 309 Probable palmitoyltransferase ZDHHC19; Zinc finger DHHC-type containing 19; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000296327 SLC51A 340 Organic solute transporter subunit alpha; Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids; Solute carriers 9606.ENSP00000296328 UBXN7 489 UBX domain-containing protein 7; Ubiquitin-binding adapter that links a subset of NEDD8- associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates; UBX domain containing 9606.ENSP00000296333 PIGX 276 Phosphatidylinositol-glycan biosynthesis class X protein; Essential component of glycosylphosphatidylinositol- mannosyltransferase 1 which transfers the first of the 4 mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM (By similarity); Belongs to the PIGX family 9606.ENSP00000296343 KIAA0226 972 Run domain Beclin-1-interacting and cysteine-rich domain-containing protein; Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation 9606.ENSP00000296350 MFI2 738 Melanotransferrin; Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc 9606.ENSP00000296358 OTOP1 612 Otopetrin-1; Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP (By similarity) 9606.ENSP00000296370 S100P 95 Protein S100-P; May function as calcium sensor and contribute to cellular calcium signaling. In a calcium-dependent manner, functions by interacting with other proteins, such as EZR and PPP5C, and indirectly plays a role in physiological processes like the formation of microvilli in epithelial cells. May stimulate cell proliferation in an autocrine manner via activation of the receptor for activated glycation end products (RAGE); Belongs to the S-100 family 9606.ENSP00000296387 CLDN19 224 Claudin-19; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000296411 METAP1 386 Methionine aminopeptidase 1; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Required for normal progression through the cell cycle; Belongs to the peptidase M24A family. Methionine aminopeptidase type 1 subfamily 9606.ENSP00000296412 ADH5 374 Alcohol dehydrogenase class-3; Class-III ADH is remarkably ineffective in oxidizing ethanol, but it readily catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione; Belongs to the zinc-containing alcohol dehydrogenase family. Class-III subfamily 9606.ENSP00000296417 H2AFZ 128 Histone H2A.Z; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for ch [...] 9606.ENSP00000296420 EMCN 261 Endomucin; Endothelial sialomucin, also called endomucin or mucin- like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix; Mucins 9606.ENSP00000296422 SLC9B1 515 Sodium/hydrogen exchanger 9B1; Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility; Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family 9606.ENSP00000296424 BDH2 245 3-hydroxybutyrate dehydrogenase type 2; Dehydrogenase that mediates the formation of 2,5- dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin and associates with LCN2, thereby playing a key role in iron homeostasis and transport. Also acts as a 3-hydroxybutyrate dehydrogenase (By similarity); Short chain dehydrogenase/reductase superfamily 9606.ENSP00000296435 CAMP 173 Cathelicidin antimicrobial peptide; Binds to bacterial lipopolysaccharides (LPS), has antibacterial activity; Endogenous ligands 9606.ENSP00000296438 FBXW12 464 F-box/WD repeat-containing protein 12; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and WD repeat domain containing 9606.ENSP00000296443 TREX1 314 Three-prime repair exonuclease 1; Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini. Prevents cell-intrinsic initiation of autoimmunity. Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements. Unless degraded, these DNA fragments accumulate in the cytosol and activate the IFN-stimulatory DNA (ISD) response and innate immune signaling. Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the pro [...] 9606.ENSP00000296444 SHISA5 240 Protein shisa-5; Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis; Shisa family members 9606.ENSP00000296452 BSN 3926 Protein bassoon; Is thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act through binding to ERC2/CAST1. Essential in regulated neurotransmitter release from a subset of brain glutamatergic synapses. Involved in the formation of the retinal photoreceptor ribbon synapses (By similarity); Zinc fingers 9606.ENSP00000296456 APEH 732 Acylamino-acid-releasing enzyme; This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N- acetylated amino acid and a peptide with a free N-terminus. It preferentially cleaves off Ac-Ala, Ac-Met and Ac-Ser; Belongs to the peptidase S9C family 9606.ENSP00000296464 HSPA4L 839 Heat shock 70 kDa protein 4L; Possesses chaperone activity in vitro where it inhibits aggregation of citrate synthase; Belongs to the heat shock protein 70 family 9606.ENSP00000296468 MFSD8 518 Major facilitator superfamily domain-containing protein 8; May be a carrier that transport small solutes by using chemiosmotic ion gradients; Belongs to the major facilitator superfamily 9606.ENSP00000296473 MON1A 652 Vacuolar fusion protein MON1 homolog A; Plays an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form 9606.ENSP00000296474 MST1R 1400 Macrophage-stimulating protein receptor; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to MST1 ligand. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces autophosphorylation of RON on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1 or the adapter GAB1. Recruitment of these downstream effectors by RON leads to the ac [...] 9606.ENSP00000296484 POC1A 407 POC1 centriolar protein homolog A; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation; Belongs to the WD repeat POC1 family 9606.ENSP00000296486 ETNPPL 499 Ethanolamine-phosphate phospho-lyase; Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde 9606.ENSP00000296490 WDR82 313 WD repeat-containing protein 82; Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 'Lys-4' methylation via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase; WD repeat domain containing 9606.ENSP00000296498 PRSS12 875 Neurotrypsin; Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations; Belongs to the peptidase S1 family 9606.ENSP00000296499 NDST3 873 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Has high deacetylase activity but low sulfotransferase activity; Sulfotransferases, membrane bound 9606.ENSP00000296503 HMGB2 209 High mobility group protein B2; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. In the nucleus is an abundant chromatin-associated non-histone protein involved in transcription, chromatin remodeling and V(D)J recombination and probably other processes. Binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringi [...] 9606.ENSP00000296504 SAP30 220 Histone deacetylase complex subunit SAP30; Involved in the functional recruitment of the Sin3- histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes. Capable of transcription repression by N- CoR. Active in deacetylating core histone octamers (when in a complex) but inactive in deacetylating nucleosomal histones; Belongs to the SAP30 family 9606.ENSP00000296506 SCRG1 98 Scrapie-responsive protein 1; Stimulator of chondrogenesis 1 9606.ENSP00000296509 MAD2L1 205 Mitotic spindle assembly checkpoint protein MAD2A; Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Required for the execution of the mitotic checkpoint which monitors the process of kinetochore- spindle attachment and inhibits the activity of the anaphase promoting complex by sequestering CDC20 until all chromosomes are aligned at the metaphase plate 9606.ENSP00000296511 ANXA5 320 Annexin A5; This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade; Annexins 9606.ENSP00000296513 ADAD1 576 Adenosine deaminase domain-containing protein 1; Plays a role in spermatogenesis. Binds to RNA but not to DNA (By similarity); Adenosine deaminases acting on RNA 9606.ENSP00000296518 GUCY1A3 690 Guanylate cyclase 1, soluble, alpha 3; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family 9606.ENSP00000296522 HPGD 266 15-hydroxyprostaglandin dehydrogenase [NAD(+)]; Prostaglandin inactivation. Contributes to the regulation of events that are under the control of prostaglandin levels. Catalyzes the NAD-dependent dehydrogenation of lipoxin A4 to form 15-oxo-lipoxin A4. Inhibits in vivo proliferation of colon cancer cells; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000296525 ASB5 329 Ankyrin repeat and SOCS box protein 5; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May play a role in the initiation of arteriogenesis (By similarity); Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000296526 GRIA2 883 Glutamate receptor 2; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of [...] 9606.ENSP00000296529 TMEM144 345 Transmembrane protein 144; Belongs to the TMEM144 family 9606.ENSP00000296543 NAA15 866 N-alpha-acetyltransferase 15, NatA auxiliary subunit; Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. The NAT activity may be important for vascular, hematopoietic and neuronal growth and development. Required to control retinal neovascularization in adult ocular endothelial cells. In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter; Armadillo-like helical domain containing 9606.ENSP00000296545 IL15 162 Interleukin-15; Cytokine that stimulates the proliferation of T- lymphocytes. Stimulation by IL-15 requires interaction of IL-15 with components of IL-2R, including IL-2R beta and probably IL-2R gamma but not IL-2R alpha; Belongs to the IL-15/IL-21 family 9606.ENSP00000296564 ICE1 2266 Little elongation complex subunit 1; Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically acts as a scaffold protein that promotes the LEC complex formation and recruitment and RNA polymerase II occupancy at snRNA genes in subnuclear bodies; Belongs to the ICE1 family 9606.ENSP00000296575 HHIP 700 Hedgehog-interacting protein; Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family 9606.ENSP00000296577 ABCE1 599 ATP-binding cassette sub-family E member 1; Antagonizes the binding of 2-5A (5'-phosphorylated 2',5'-linked oligoadenylates) by RNase L through direct interaction with RNase L and therefore inhibits its endoribonuclease activity. May play a central role in the regulation of mRNA turnover. Antagonizes the anti-viral effect of the interferon-regulated 2-5A/RNase L pathway. May act as a chaperone for post-translational events during HIV-1 capsid assembly; Belongs to the ABC transporter superfamily. ABCE family 9606.ENSP00000296582 TMEM184C 438 Transmembrane protein 184C; Possible tumor suppressor which may play a role in cell growth; Belongs to the TMEM184 family 9606.ENSP00000296585 ITGA2 1181 Integrin alpha-2; Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix; CD molecules 9606.ENSP00000296589 SLC45A2 530 Membrane-associated transporter protein; Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity); Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family 9606.ENSP00000296591 EDIL3 480 EGF-like repeat and discoidin I-like domain-containing protein 3; Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor. Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of remodeling in embryonic development 9606.ENSP00000296597 NDUFAF2 169 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2; Acts as a molecular chaperone for mitochondrial complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000296600 ZNF474 364 Zinc finger protein 474; Zinc fingers C2H2-type 9606.ENSP00000296603 LMBRD2 695 LMBR1 domain containing 2 9606.ENSP00000296632 STARD4 205 StAR-related lipid transfer protein 4; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity); StAR related lipid transfer domain containing 9606.ENSP00000296641 F2RL2 374 Proteinase-activated receptor 3; Receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis; F2R receptors 9606.ENSP00000296657 ANKRD33B 494 Ankyrin repeat domain-containing protein 33B; Ankyrin repeat domain containing 9606.ENSP00000296658 CMBL 245 Carboxymethylenebutenolidase homolog; Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam antibiotics faropenem medoxomil and lenampicillin 9606.ENSP00000296674 RPS23 143 40S ribosomal protein S23; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through [...] 9606.ENSP00000296677 F2RL1 397 Proteinase-activated receptor 2; Receptor for trypsin and trypsin-like enzymes coupled to G proteins. Its function is mediated through the activation of several signaling pathways including phospholipase C (PLC), intracellular calcium, mitogen-activated protein kinase (MAPK), I-kappaB kinase/NF-kappaB and Rho. Can also be transactivated by cleaved F2R/PAR1. Involved in modulation of inflammatory responses and regulation of innate and adaptive immunity, and acts as a sensor for proteolytic enzymes generated during infection. Generally is promoting inflammation. Can signal synergisticall [...] 9606.ENSP00000296679 WDR41 459 WD repeat-containing protein 41; Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. The C9orf72- SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity; WD repeat domain containing 9606.ENSP00000296682 PRDM9 894 Histone-lysine N-methyltransferase PRDM9; Histone methyltransferase that specifically trimethylates 'Lys-4' of histone H3 during meiotic prophase and is essential for proper meiotic progression. Does not have the ability to mono- and dimethylate 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes during early meiotic prophase (By similarity); Lysine methyltransferases 9606.ENSP00000296684 NDUFS4 175 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000296694 SCGB3A2 93 Secretoglobin family 3A member 2; Secreted cytokine-like protein. Binds to the scavenger receptor MARCO. Can also bind to pathogens including the Gram-positive bacterium L.monocytogenes, the Gram-negative bacterium P.aeruginosa, and yeast. Strongly inhibits phospholipase A2 (PLA2G1B) activity. Seems to have anti- inflammatory effects in respiratory epithelium (By similarity). Also has anti-fibrotic activity in lung. May play a role in fetal lung development and maturation. Promotes branching morphogenesis during early stages of lung development. In the pituitary, may inhibit production [...] 9606.ENSP00000296695 SPINK1 79 Serine protease inhibitor Kazal-type 1; Serine protease inhibitor which exhibits anti-trypsin activity. In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity); Serine peptidase inhibitors, Kazal type 9606.ENSP00000296702 TCERG1 1098 Transcription elongation regulator 1; Transcription factor that binds RNA polymerase II and inhibits the elongation of transcripts from target promoters. Regulates transcription elongation in a TATA box-dependent manner. Necessary for TAT-dependent activation of the human immunodeficiency virus type 1 (HIV-1) promoter 9606.ENSP00000296721 AFAP1L1 768 Actin filament-associated protein 1-like 1; May be involved in podosome and invadosome formation; Pleckstrin homology domain containing 9606.ENSP00000296736 TIGD6 521 Tigger transposable element-derived protein 6; Helix-turn-helix CENPB type domain containing; DNA transposon derived genes 9606.ENSP00000296741 ENPP6 440 Ectonucleotide pyrophosphatase/phosphodiesterase family member 6; Choline-specific glycerophosphodiester phosphodiesterase. The preferred substrate may be lysosphingomyelin (By similarity). Hydrolyzes lysophosphatidylcholine (LPC) to form monoacylglycerol and phosphorylcholine but not lysophosphatidic acid, showing it has a lysophospholipase C activity. Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. Also hydrolyzes glycerophosphorylcholine and sphingosylphosphorylcholine efficiently. Hydrolyzes the classical substrate for phospholipa [...] 9606.ENSP00000296754 ERAP1 948 Endoplasmic reticulum aminopeptidase 1; Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I- binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play [...] 9606.ENSP00000296755 MAP1B 2468 Microtubule-associated protein 1B; Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B may play a role in the cytoskeletal changes that accompany neurite extension. Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing; Protein phosphatase 1 regulatory subunits 9606.ENSP00000296776 TMEM174 243 Transmembrane protein 174 9606.ENSP00000296777 CARTPT 116 Cocaine- and amphetamine-regulated transcript protein; Satiety factor closely associated with the actions of leptin and neuropeptide y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro 9606.ENSP00000296782 RICTOR 1732 Rapamycin-insensitive companion of mTOR; Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activ [...] 9606.ENSP00000296785 ANKRA2 313 Ankyrin repeat family A protein 2; May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5. May also regulate LRP2/megalin (By similarity); Ankyrin repeat domain containing 9606.ENSP00000296786 UBLCP1 318 Ubiquitin-like domain-containing CTD phosphatase 1; Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity. The dephosphorylation may prevent assembly of the core and regulatory particles (CP and RP) into mature 26S proteasome; CTD family phosphatases 9606.ENSP00000296792 UTP15 518 U3 small nucleolar RNA-associated protein 15 homolog; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre- ribosomal RNA transcription by RNA polymerase I; UTPa subcomplex 9606.ENSP00000296795 TLR3 904 Toll-like receptor 3; Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR3 is a nucleotide-sensing TLR which is activated by double-stranded RNA, a sign of viral infection. Acts via the adapter TRIF/TICAM1, leading to NF-kappa-B activation, IRF3 nuclear translocation, cytokine secretion and the inflammatory response; CD molecules 9606.ENSP00000296805 GFM2 779 Ribosome-releasing factor 2, mitochondrial; Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily 9606.ENSP00000296824 CCDC127 260 Coiled-coil domain containing 127 9606.ENSP00000296839 FOXQ1 403 Forkhead box protein Q1; Plays a role in hair follicle differentiation; Forkhead boxes 9606.ENSP00000296847 C6orf195 127 Uncharacterized protein encoded by LINC01600; Chromosome 6 open reading frame 195 9606.ENSP00000296849 NKD2 451 Protein naked cuticle homolog 2; Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity (By similarity). Required for processing of TGFA and for targeting of TGFA to the basolateral membrane of polarized epithelial cells; EF-hand domain containing 9606.ENSP00000296859 RAPGEF6 1609 Rap guanine nucleotide exchange factor 6; Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP; PDZ domain containing 9606.ENSP00000296861 TNFRSF21 655 Tumor necrosis factor receptor superfamily member 21; Promotes apoptosis, possibly via a pathway that involves the activation of NF-kappa-B. Can also promote apoptosis mediated by BAX and by the release of cytochrome c from the mitochondria into the cytoplasm. Plays a role in neuronal apoptosis, including apoptosis in response to amyloid peptides derived from APP, and is required for both normal cell body death and axonal pruning. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N-terminal frag [...] 9606.ENSP00000296862 GPR111 708 Adhesion G-protein coupled receptor F2; Orphan receptor 9606.ENSP00000296870 IL3 152 Interleukin-3; Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages; Interleukins 9606.ENSP00000296871 CSF2 144 Granulocyte-macrophage colony-stimulating factor; Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes; Belongs to the GM-CSF family 9606.ENSP00000296877 LEAP2 77 Liver-expressed antimicrobial peptide 2; Has an antimicrobial activity 9606.ENSP00000296921 TLX3 291 T-cell leukemia homeobox protein 3; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000296930 NPM1 294 Nucleophosmin; Involved in diverse cellular processes such as ribosome biogenesis, centrosome duplication, protein chaperoning, histone assembly, cell proliferation, and regulation of tumor suppressors p53/TP53 and ARF. Binds ribosome presumably to drive ribosome nuclear export. Associated with nucleolar ribonucleoprotein structures and bind single-stranded nucleic acids. Acts as a chaperonin for the core histones H3, H2B and H4. Stimulates APEX1 endonuclease activity on apurinic/apyrimidinic (AP) double- stranded DNA but inhibits APEX1 endonuclease activity on AP single-stranded RNA. [...] 9606.ENSP00000296946 T 435 Brachyury protein; Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site 9606.ENSP00000296953 CREBRF 639 CREB3 regulatory factor; Acts as a negative regulator of the endoplasmic reticulum stress response or unfolded protein response (UPR). Represses the transcriptional activity of CREB3 during the UPR. Recruits CREB3 into nuclear foci 9606.ENSP00000296955 DCBLD1 539 Discoidin, CUB and LCCL domain containing 1 9606.ENSP00000296980 IL22RA2 263 Interleukin-22 receptor subunit alpha-2; Isoform 2 is a receptor for IL22. Binds to IL22, prevents interaction with the functional IL-22R complex and blocks the activity of IL22 (in vitro). May play an important role as an IL22 antagonist in the regulation of inflammatory responses; Interleukin receptors 9606.ENSP00000297001 C7orf72 438 Spermatogenesis-associated protein 48; Chromosome 7 open reading frame 72 9606.ENSP00000297012 HIST1H2AA 131 Histone H2A type 1-A; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000297029 SCIN 715 Adseverin; Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles. Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization [...] 9606.ENSP00000297044 CYTH3 399 Cytohesin-3; Promotes guanine-nucleotide exchange on ARF1 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Play a role in the epithelial polarization (By similarity); Pleckstrin homology domain containing 9606.ENSP00000297056 DAGLB 672 Sn1-specific diacylglycerol lipase beta; Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000297063 KIAA0895 520 Uncharacterized protein KIAA0895; KIAA0895 9606.ENSP00000297071 TRA2A 282 Transformer-2 protein homolog alpha; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing 9606.ENSP00000297107 GALNT10 603 Polypeptide N-acetylgalactosaminyltransferase 10; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward Muc5Ac and EA2 peptide substrates; Polypeptide N-acetylgalactosaminyltransferases 9606.ENSP00000297109 SAP30L 183 Histone deacetylase complex subunit SAP30L; Isoform 1: Functions as transcription repressor, probably via its interaction with histone deacetylase complexes. Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus. Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA. Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import; Belongs to the SAP30 family 9606.ENSP00000297130 MYOZ3 251 Myozenin-3; Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis 9606.ENSP00000297135 COG5 860 Conserved oligomeric Golgi complex subunit 5; Required for normal Golgi function; Belongs to the COG5 family 9606.ENSP00000297142 NEUROD6 337 Neurogenic differentiation factor 6; Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000297145 C7orf60 405 Probable methyltransferase BMT2 homolog; Probable S-adenosyl-L-methionine-dependent methyltransferase 9606.ENSP00000297146 GPR85 370 Probable G-protein coupled receptor 85; Orphan receptor; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000297151 SLU7 586 Pre-mRNA-splicing factor SLU7; Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'- splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation; Spliceosomal C complex 9606.ENSP00000297156 CAMLG 296 Calcium signal-modulating cyclophilin ligand; Likely involved in the mobilization of calcium as a result of the TCR/CD3 complex interaction. Binds to cyclophilin B 9606.ENSP00000297157 RP9 221 Retinitis pigmentosa 9 protein; Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity) 9606.ENSP00000297161 BMPER 685 BMP-binding endothelial regulator protein; Inhibitor of bone morphogenetic protein (BMP) function, it may regulate BMP responsiveness of osteoblasts and chondrocytes 9606.ENSP00000297164 RELL2 303 RELT-like protein 2; RELT family 9606.ENSP00000297185 HSPA9 679 Stress-70 protein, mitochondrial; Chaperone protein which plays an important role in mitochondrial iron-sulfur cluster (ISC) biogenesis. Interacts with and stabilizes ISC cluster assembly proteins FXN, NFU1, NFS1 and ISCU. Regulates erythropoiesis via stabilization of ISC assembly. May play a role in the control of cell proliferation and cellular aging (By similarity); Belongs to the heat shock protein 70 family 9606.ENSP00000297203 C7orf62 253 Testis-expressed protein 47; Chromosome 7 open reading frame 62 9606.ENSP00000297205 STEAP1 339 Metalloreductase STEAP1; Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity); Belongs to the STEAP family 9606.ENSP00000297258 FABP5 135 Fatty acid-binding protein, epidermal; High specificity for fatty acids. Highest affinity for C18 chain length. Decreasing the chain length or introducing double bonds reduces the affinity. May be involved in keratinocyte differentiation; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000297261 SHH 462 Sonic hedgehog protein; Sonic hedgehog protein: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the reticulum endoplasmic (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By similarity); Hedgehog signaling molecule family 9606.ENSP00000297265 CHMP4C 233 Charged multivesicular body protein 4c; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] 9606.ENSP00000297267 FNDC1 1894 Fibronectin type III domain-containing protein 1; May be an activator of G protein signaling; Fibronectin type III domain containing 9606.ENSP00000297268 COL1A2 1366 Collagen alpha-2(I) chain; Type I collagen is a member of group I collagen (fibrillar forming collagen); Belongs to the fibrillar collagen family 9606.ENSP00000297273 CASD1 797 N-acetylneuraminate 9-O-acetyltransferase; O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids. Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition 9606.ENSP00000297282 SLC13A4 626 Solute carrier family 13 member 4; Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV); Solute carriers 9606.ENSP00000297283 PGAM2 253 Phosphoglycerate mutase 2; Interconversion of 3- and 2-phosphoglycerate with 2,3- bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity; Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily 9606.ENSP00000297290 BRI3 125 Brain protein I3; Participates in tumor necrosis factor-alpha (TNF)- induced cell death. May be a target of Wnt/beta- catenin signaling in the liver; Belongs to the BRI3 family 9606.ENSP00000297293 LMTK2 1503 Serine/threonine-protein kinase LMTK2; Phosphorylates PPP1C, phosphorylase b and CFTR; Protein phosphatase 1 regulatory subunits 9606.ENSP00000297307 SLC35G3 338 Solute carrier family 35 member G3 9606.ENSP00000297313 RGS20 388 Regulator of G-protein signaling 20; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G- protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity) 9606.ENSP00000297316 SOX17 414 Transcription factor SOX-17; Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'- AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells (By similarity); SRY-boxes 9606.ENSP00000297323 ADCY1 1119 Adenylate cyclase type 1; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity); Belongs to the adenylyl cyclase class-4/guanylyl cyclase family 9606.ENSP00000297324 C8orf48 319 Uncharacterized protein C8orf48; Chromosome 8 open reading frame 48 9606.ENSP00000297325 SUN3 357 SUN domain-containing protein 3; As a probable component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nuclear remodeling during sperm head formation in spermatogenenis. A probable SUN3:SYNE1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as [...] 9606.ENSP00000297338 RAD21 631 Double-strand-break repair protein rad21 homolog; Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole asse [...] 9606.ENSP00000297347 MED30 178 Mediator of RNA polymerase II transcription subunit 30; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000297350 TNFRSF11B 401 Tumor necrosis factor receptor superfamily member 11B; Acts as decoy receptor for TNFSF11/RANKL and thereby neutralizes its function in osteoclastogenesis. Inhibits the activation of osteoclasts and promotes osteoclast apoptosis in vitro. Bone homeostasis seems to depend on the local ratio between TNFSF11 and TNFRSF11B. May also play a role in preventing arterial calcification. May act as decoy receptor for TNFSF10/TRAIL and protect against apoptosis. TNFSF10/TRAIL binding blocks the inhibition of osteoclastogenesis; Tumor necrosis factor receptor superfamily 9606.ENSP00000297354 SBSPON 264 Somatomedin-B and thrombospondin type-1 domain-containing protein; Somatomedin B and thrombospondin type 1 domain containing; Belongs to the thrombospondin family 9606.ENSP00000297375 EN2 333 Homeobox protein engrailed-2; NKL subclass homeoboxes and pseudogenes; Belongs to the engrailed homeobox family 9606.ENSP00000297405 CSMD3 3707 CUB and sushi domain-containing protein 3; Involved in dendrite development; Sushi domain containing 9606.ENSP00000297423 SPIDR 915 DNA repair-scaffolding protein; Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity 9606.ENSP00000297431 ORC5 435 Origin recognition complex subunit 5; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre- replication complex necessary to initiate DNA replication; Belongs to the ORC5 family 9606.ENSP00000297435 DEFA4 97 Neutrophil defensin 4; Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production; Defensins, alpha 9606.ENSP00000297436 DEFA6 100 Defensin-6; Has very low antimicrobial activity against Gram- negative and Gram-positive bacteria. May protect cells against infection with HIV-1; Defensins, alpha 9606.ENSP00000297439 DEFB1 68 Beta-defensin 1; Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility; Belongs to the beta-defensin family 9606.ENSP00000297440 HEATR2 855 Dynein assembly factor 5, axonemal; Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility 9606.ENSP00000297459 TMEM74 305 Transmembrane protein 74; Plays an essential role in autophagy. TMEM74-induced autophagy may involve PI3K signal transduction; Belongs to the TMEM74 family 9606.ENSP00000297477 TMEM184A 413 Transmembrane protein 184A; Acts as a heparin receptor in vascular cells (By similarity). May be involved in vesicle transport in exocrine cells and Sertoli cells (By similarity) 9606.ENSP00000297494 NOS3 1203 Nitric oxide synthase, endothelial; Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets 9606.ENSP00000297504 ABCB8 735 ATP-binding cassette sub-family B member 8, mitochondrial; ATP binding cassette subfamily B member 8; Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily 9606.ENSP00000297508 MICALL2 904 MICAL-like protein 2; Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes [...] 9606.ENSP00000297512 ASIC3 549 Acid-sensing ion channel 3; Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties 9606.ENSP00000297524 SLC7A13 470 Solute carrier family 7 member 13; Mediates the transport L-aspartate and L-glutamate in a sodium-independent manner; Belongs to the amino acid-polyamine-organocation (APC) superfamily 9606.ENSP00000297532 FASTK 549 Fas-activated serine/threonine kinase; Phosphorylates the splicing regulator TIA1, thereby promoting the inclusion of FAS exon 6, which leads to an mRNA encoding a pro-apoptotic form of the receptor; Belongs to the FAST protein kinase family 9606.ENSP00000297534 C7orf55 113 Protein FMC1 homolog; Chromosome 7 open reading frame 55 9606.ENSP00000297537 GBX1 363 Homeobox protein GBX-1; Gastrulation brain homeobox 1; HOXL subclass homeoboxes 9606.ENSP00000297540 PHAX 394 Phosphorylated adapter RNA export protein; A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric imp [...] 9606.ENSP00000297562 AP5Z1 807 AP-5 complex subunit zeta-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair; Armadillo-like helical domain containing 9606.ENSP00000297578 SLC25A32 315 Mitochondrial folate transporter/carrier; Transports folate across the inner membranes of mitochondria; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000297579 DCAF13 597 DDB1- and CUL4-associated factor 13; Possible role in ribosomal RNA processing (By similarity). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000297581 DCSTAMP 470 Dendritic cell-specific transmembrane protein; Probable cell surface receptor that plays several roles in cellular fusion, cell differentiation, bone and immune homeostasis. Plays a role in TNFSF11-mediated osteoclastogenesis. Cooperates with OCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Participates in osteoclast bone resorption. Involved in inducing the expression of tartrate-resistant acid phosphatase in osteoclast precursors. Plays a role in haematopoietic stem cell differentiation of bone marrow cells toward the myeloid lineage. I [...] 9606.ENSP00000297591 KIAA1429 1812 Protein virilizer homolog; Required for N6-methyladenosine (m6A) methylation of mRNAs, a modification that plays a role in the efficiency of mRNA splicing and processing. Involved in mRNA splicing regulation, probably via its function in m6A methylation (Probable); Belongs to the vir family 9606.ENSP00000297596 GEM 296 GTP-binding protein GEM; Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity; RGK type GTPase family 9606.ENSP00000297613 RPP25L 163 Ribonuclease P protein subunit p25-like protein; May be a component of ribonuclease P or MRP 9606.ENSP00000297623 C9orf24 262 Spermatid-specific manchette-related protein 1; May play a role in spermatogenesis (By similarity). May be involved in differentiation or function of ciliated cells; Belongs to the SMRP1 family 9606.ENSP00000297625 KIAA1161 714 Myogenesis-regulating glycosidase; Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2; Belongs to the glycosyl hydrolase 31 family 9606.ENSP00000297632 TMEM65 240 Transmembrane protein 65; May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance 9606.ENSP00000297661 UBAP1 502 Ubiquitin-associated protein 1; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2 9606.ENSP00000297668 CNTNAP3 1288 Contactin-associated protein-like 3; Contactin associated protein like 3 9606.ENSP00000297679 HSD3B7 369 3 beta-hydroxysteroid dehydrogenase type 7; The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis. Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7- alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein- coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymp [...] 9606.ENSP00000297689 NFIL3 462 Nuclear factor interleukin-3-regulated protein; Acts as a transcriptional regulator that recognizes and binds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequence present in many cellular and viral promoters. Represses transcription from promoters with activating transcription factor (ATF) sites. Represses promoter activity in osteoblasts (By similarity). Represses transcriptional activity of PER1 (By similarity). Represses transcriptional activity of PER2 via the B- site on the promoter (By similarity). Activates transcription from the interleukin-3 promoter in T-cells. Competes for [...] 9606.ENSP00000297737 ZMAT4 229 Zinc finger matrin-type 4 9606.ENSP00000297767 PRSS37 235 Probable inactive serine protease 37; Plays a role in male fertility (By similarity). May have a role in sperm migration or binding to zona-intact eggs (By similarity). Involved in the activation of the proacrosin/acrosin system; Belongs to the peptidase S1 family 9606.ENSP00000297770 CPA6 437 Carboxypeptidase A6; May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II. Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine; M14 carboxypeptidases 9606.ENSP00000297784 TMC1 760 Transmembrane channel-like protein 1; Probable ion channel required for the normal function of cochlear hair cells; Belongs to the TMC family 9606.ENSP00000297785 ALDH1A1 501 Retinal dehydrogenase 1; Can convert/oxidize retinaldehyde to retinoic acid. Binds free retinal and cellular retinol-binding protein-bound retinal (By similarity). May have a broader specificity and oxidize other aldehydes in vivo 9606.ENSP00000297788 CCDC136 1154 Coiled-coil domain-containing protein 136; May play a role in acrosome formation in spermatogenesis and in fertilization 9606.ENSP00000297792 KDM1B 590 Lysine-specific histone demethylase 1B; Histone demethylase that demethylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation, thereby acting as a corepressor. Required for de novo DNA methylation of a subset of imprinted genes during oogenesis. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Demethylates both mono- and di-methylated 'Lys-4' of histone H3. Has no effect on tri- methylated 'Lys-4', mono-, di- or tri-methylated 'Lys-9', mono-, di- or tri-methylated 'Lys-27', mono-, di- or tri-meth [...] 9606.ENSP00000297814 KIF27 1401 Kinesin-like protein KIF27; Plays an essential role in motile ciliogenesis; Kinesins 9606.ENSP00000297819 SSMEM1 244 Serine rich single-pass membrane protein 1 9606.ENSP00000297837 ANKS6 871 Ankyrin repeat and SAM domain-containing protein 6; Required for renal function; Ankyrin repeat domain containing 9606.ENSP00000297848 COL14A1 1796 Collagen alpha-1(XIV) chain; Plays an adhesive role by integrating collagen bundles. It is probably associated with the surface of interstitial collagen fibrils via COL1. The COL2 domain may then serve as a rigid arm which sticks out from the fibril and protrudes the large N-terminal globular domain into the extracellular space, where it might interact with other matrix molecules or cell surface receptors (By similarity); Collagens 9606.ENSP00000297857 ZHX1 873 Zinc fingers and homeoboxes protein 1; Acts as a transcriptional repressor. Increases DNMT3B- mediated repressive transcriptional activity when DNMT3B is tethered to DNA. May link molecule between DNMT3B and other co- repressor proteins; Belongs to the ZHX family 9606.ENSP00000297866 CXorf22 976 Cilia- and flagella-associated protein 47; Chromosome X open reading frame 22 9606.ENSP00000297873 WBSCR27 245 Methyltransferase-like protein 27; Williams Beuren syndrome chromosome region 27 9606.ENSP00000297904 FIGF 354 Vascular endothelial growth factor D; Growth factor active in angiogenesis, lymphangiogenesis and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in the formation of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates VEGFR-2 (KDR/FLK1) and VEGFR-3 (FLT4) receptors 9606.ENSP00000297913 OR1Q1 314 Olfactory receptor 1Q1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000297954 WNK2 2297 Serine/threonine-protein kinase WNK2; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5. Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression. Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulatio [...] 9606.ENSP00000297977 HDX 690 Highly divergent homeobox; POU class homeoboxes and pseudogenes 9606.ENSP00000297988 AQP7 342 Aquaporin-7; Forms a channel for water and glycerol; Aquaporins 9606.ENSP00000297990 NOL6 1146 Nucleolar protein 6; Belongs to the NRAP family 9606.ENSP00000297991 AQP3 292 Aquaporin-3; Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an [...] 9606.ENSP00000297994 TRMT10B 316 tRNA methyltransferase 10 homolog B; S-adenosyl-L-methionine-dependent guanine N(1)- methyltransferase that catalyzes the formation of N(1)- methylguanine at position 9 (m1G9) in tRNAs. Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs; SPOUT methyltransferase domain containing 9606.ENSP00000298032 ARMC3 872 Armadillo repeat containing 3 9606.ENSP00000298048 MELK 651 Maternal embryonic leucine zipper kinase; Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcino [...] 9606.ENSP00000298050 CCDC67 604 Deuterosome assembly protein 1; Key structural component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells and can generate more than 100 centrioles. Probably sufficient for the specification and formation of the deuterosome inner core. Interacts with CEP152 and recruits PLK4 to activate centriole biogenesis (By similarity); Belongs to the CEP63 family 9606.ENSP00000298097 FBXO33 555 F-box only protein 33; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. Recognizes YBX1 (By similarity); F-boxes other 9606.ENSP00000298110 GPR101 508 Probable G-protein coupled receptor 101; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000298119 LRFN5 719 Leucine-rich repeat and fibronectin type-III domain-containing protein 5; Cell adhesion molecule that mediates homophilic cell- cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons; Belongs to the LRFN family 9606.ENSP00000298124 LRRC18 261 Leucine-rich repeat-containing protein 18; May be involved in the regulation of spermatogenesis and sperm maturation 9606.ENSP00000298125 WDFY2 400 WD repeat and FYVE domain-containing protein 2; Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2. Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1. Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By sim [...] 9606.ENSP00000298130 SPTSSA 71 Serine palmitoyltransferase small subunit A; Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2- SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16- CoA as substrates, with a slight preference for C14-CoA 9606.ENSP00000298139 WRN 1432 Werner syndrome ATP-dependent helicase; Multifunctional enzyme that has both magnesium and ATP- dependent DNA-helicase activity and 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double- stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or duri [...] 9606.ENSP00000298159 CFL2 166 Cofilin-2; Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. Its F-actin depolymerization activity is regulated by association with CSPR3. It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods. Required for muscle maintenance. May play a role during the exchange of alpha-actin forms during the early postnatal remodeling of the sarcomere (By similarity); Belongs to the actin-binding proteins ADF family 9606.ENSP00000298181 SSX7 188 Protein SSX7; Could act as a modulator of transcription 9606.ENSP00000298198 PGM2L1 622 Glucose 1,6-bisphosphate synthase; Glucose 1,6-bisphosphate synthase using 1,3- bisphosphoglycerate as a phosphate donor and a series of 1- phosphate sugars as acceptors, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1- phosphate. 5 or 6-phosphosugars are bad substrates, with the exception of glucose 6-phosphate. Also synthesizes ribose 1,5- bisphosphate. Has only low phosphopentomutase and phosphoglucomutase activities 9606.ENSP00000298223 FOLR2 255 Folate receptor beta; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release 9606.ENSP00000298229 INPPL1 1258 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol- 3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signalin [...] 9606.ENSP00000298231 PHOX2A 284 Paired mesoderm homeobox protein 2A; May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype; PRD class homeoboxes and pseudogenes 9606.ENSP00000298248 CRYL1 319 Lambda-crystallin homolog; Crystallin lambda 1 9606.ENSP00000298251 HEPACAM 416 Hepatocyte cell adhesion molecule; Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation; Ig-like cell adhesion molecule family 9606.ENSP00000298281 PCF11 1555 Pre-mRNA cleavage complex 2 protein Pcf11; Component of pre-mRNA cleavage complex II 9606.ENSP00000298282 PKNOX2 472 Homeobox protein PKNOX2; TALE class homeoboxes and pseudogenes; Belongs to the TALE/MEIS homeobox family 9606.ENSP00000298283 RPL10L 214 60S ribosomal protein L10-like; May play a role in compensating for the inactivated X- linked gene during spermatogenesis; L ribosomal proteins 9606.ENSP00000298288 LRR1 414 Leucine-rich repeat protein 1; May negatively regulate the 4-1BB-mediated signaling cascades which result in the activation of NK-kappaB and JNK1. Probable substrate recognition subunit of an ECS (Elongin BC- CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000298292 DNAAF2 837 Protein kintoun; Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment 9606.ENSP00000298295 C10orf10 212 Protein DEPP1; Acts as a critical modulator of FOXO3-induced autophagy via increased cellular ROS 9606.ENSP00000298296 MAGEC3 643 Melanoma-associated antigen C3; MAGE family member C3 9606.ENSP00000298298 C10orf25 122 Uncharacterized protein C10orf25; Chromosome 10 open reading frame 25 9606.ENSP00000298299 ZNF22 224 Zinc finger protein 22; Binds DNA through the consensus sequence 5'-CAATG-3'. May be involved in transcriptional regulation and may play a role in tooth formation (By similarity); Zinc fingers C2H2-type 9606.ENSP00000298307 KLHDC2 406 Kelch domain-containing protein 2; Represses CREB3-mediated transcription by interfering with CREB3-DNA binding 9606.ENSP00000298310 NEMF 1076 Nuclear export mediator factor NEMF; Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. NEMF is responsible for selective recognition of stalled 60S subunits by recognizing an exposed, nascent chain-conjugated tRNA moiety. NEMF is important for the stable association of LTN1 to the complex. May indirectly play a role in nuclear export 9606.ENSP00000298316 ARF6 175 ADP-ribosylation factor 6; GTP-binding protein involved in protein trafficking that regulates endocytic recycling and cytoskeleton remodeling. Required for normal completion of mitotic cytokinesis. Plays a role in the reorganization of the actin cytoskeleton and the formation of stress fibers. May also modulate vesicle budding and uncoating within the Golgi apparatus. Involved in the regulation of dendritic spine development, contributing to the regulation of dendritic branching and filopodia extension. Involved in epithelial polarization (By similarity).Functions as an allosteric acti [...] 9606.ENSP00000298317 RPUSD4 377 Mitochondrial RNA pseudouridine synthase RPUSD4; Converts specific uridines to pseudouridine (PSI) in different mitochondrial RNA substrates. Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome. Acts on position 39 in mitochondrial tRNA(Phe); Belongs to the pseudouridine synthase RluA family 9606.ENSP00000298351 TMEM63C 806 Calcium permeable stress-gated cation channel 1; Acts as an osmosensitive calcium-permeable cation channel 9606.ENSP00000298352 NGB 151 Neuroglobin; Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes. The deoxygenated form exhibits nitrite reductase activity inhibiting cellular respiration via NO-binding to cytochrome c oxidase. Involved in neuroprotection during oxidative stress. May exert its anti-apoptotic activity by acting to reset the trigger level of mitochondrial cytochrome c release necessary to commit the cells to apoptosis 9606.ENSP00000298355 TRIM9 710 E3 ubiquitin-protein ligase TRIM9; E3 ubiquitin-protein ligase which ubiquitinates itself in cooperation with an E2 enzyme UBE2D2/UBC4 and serves as a targeting signal for proteasomal degradation. May play a role in regulation of neuronal functions and may also participate in the formation or breakdown of abnormal inclusions in neurodegenerative disorders. May act as a regulator of synaptic vesicle exocytosis by controlling the availability of SNAP25 for the SNARE complex formation; Belongs to the TRIM/RBCC family 9606.ENSP00000298375 AKR1E2 320 1,5-anhydro-D-fructose reductase; Catalyzes the NADPH-dependent reduction of 1,5-anhydro- D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10- phenanthrenequinone (in vitro) 9606.ENSP00000298386 RXFP2 754 Relaxin receptor 2; Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3) 9606.ENSP00000298396 SSX3 188 Protein SSX3; Could act as a modulator of transcription; Belongs to the SSX family 9606.ENSP00000298428 SEC61A2 476 Protein transport protein Sec61 subunit alpha isoform 2; Appears to play a crucial role in the insertion of secretory and membrane polypeptides into the ER. It is required for assembly of membrane and secretory proteins. Found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins (By similarity); Belongs to the SecY/SEC61-alpha family 9606.ENSP00000298440 OXGR1 337 2-oxoglutarate receptor 1; Receptor for alpha-ketoglutarate. Seems to act exclusively through a G(q)-mediated pathway (By similarity) 9606.ENSP00000298472 SLC18A2 514 Synaptic vesicular amine transporter; Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles. Requisite for vesicular amine storage prior to secretion via exocytosis; Belongs to the major facilitator superfamily. Vesicular transporter family 9606.ENSP00000298492 FAM175B 415 BRISC complex subunit Abraxas 2; Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates. May act as a central scaffold protein that assembles the various components of the BRISC complex and retains them in the cytoplasm. Plays a role in regulating the onset of apoptosis via its role in modulating 'Lys- 63'-linked ubiquitination of target proteins (By similarity). Required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubi [...] 9606.ENSP00000298510 PRDX3 256 Thioredoxin-dependent peroxide reductase, mitochondrial; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides. Acts synergistically with MAP3K13 to regulate the activation of NF-kappa-B in the cytosol; Peroxiredoxins 9606.ENSP00000298527 CLEC1B 229 C-type lectin domain family 1 member B; C-type lectin-like receptor that functions as a platelet receptor for the lymphatic endothelial marker, PDPN. After ligand activation, signals via sequential activation of SRC and SYK tyrosine kinases leading to activation of PLCG2 9606.ENSP00000298532 SNAPC4 1469 snRNA-activating protein complex subunit 4; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box; Myb/SANT domain containing 9606.ENSP00000298542 FRMD7 714 FERM domain-containing protein 7; Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability; FERM domain containing 9606.ENSP00000298545 AK8 479 Adenylate kinase 8; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity; Adenylate kinases 9606.ENSP00000298546 C9orf9 168 Sperm acrosome-associated protein 9; Chromosome 9 open reading frame 9 9606.ENSP00000298552 TSC1 1164 Hamartin; In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling; Armadillo-like helical domain containing 9606.ENSP00000298556 HPRT1 218 Hypoxanthine-guanine phosphoribosyltransferase; Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5- phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway 9606.ENSP00000298569 KIAA1191 305 Putative monooxygenase p33MONOX; Potential NADPH-dependent oxidoreductase. May be involved in the regulation of neuronal survival, differentiation and axonal outgrowth; Belongs to the P33MONOX family 9606.ENSP00000298573 DUSP16 665 Dual specificity protein phosphatase 16; Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000298585 ZMYND19 227 Zinc finger MYND domain-containing protein 19; May be involved as a regulatory molecule in GPR24/MCH-R1 signaling; Zinc fingers MYND-type 9606.ENSP00000298596 STOX1 989 Storkhead-box protein 1; Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta. Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity) 9606.ENSP00000298622 JAKMIP3 844 Janus kinase and microtubule interacting protein 3 9606.ENSP00000298630 STK32C 486 Serine/threonine kinase 32C 9606.ENSP00000298642 OR4K2 314 Olfactory receptor 4K2; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000298681 SLC39A2 309 Zinc transporter ZIP2; Mediates zinc uptake. Zinc uptake may be mediated by a Zn(2+)-HCO(3)(-) symport mechanism and can function in the presence of albumin. May also transport other divalent cations. May be important in contact inhibition of normal epithelial cells and loss of its expression may play a role in tumorigenesis; Solute carriers 9606.ENSP00000298690 RNASE7 156 Ribonuclease 7; Exhibits a potent RNase activity. Has broad-spectrum antimicrobial activity against many pathogenic microorganisms and remarkably potent activity (lethal dose of 90% < 30 nM) against a vancomycin resistant Enterococcus faecium; Ribonuclease A family 9606.ENSP00000298694 ARHGEF40 1519 Rho guanine nucleotide exchange factor 40; May act as a guanine nucleotide exchange factor (GEF) 9606.ENSP00000298699 C12orf50 414 Uncharacterized protein C12orf50; Chromosome 12 open reading frame 50 9606.ENSP00000298705 PPP1R36 422 Protein phosphatase 1 regulatory subunit 36; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes 9606.ENSP00000298717 METTL3 580 N6-adenosine-methyltransferase catalytic subunit; The METTL3-METTL14 heterodimer forms a N6- methyltransferase complex that methylates adenosine residues at the N(6) position of some RNAs and regulates various processes such as the circadian clock, differentiation of embryonic and haematopoietic stem cells, cortical neurogenesis, response to DNA damage, differentiation of T-cells and primary miRNA processing. In the heterodimer formed with METTL14, METTL3 constitutes the catalytic core. N6-methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, play [...] 9606.ENSP00000298738 ERICH6B 696 Glutamate-rich protein 6B; Glutamate rich 6B 9606.ENSP00000298743 GAS1 345 Growth arrest-specific protein 1; Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells 9606.ENSP00000298746 TRUB1 349 Probable tRNA pseudouridine synthase 1; May be responsible for synthesis of pseudouridine from uracil in transfer RNAs 9606.ENSP00000298767 WAPAL 1190 Wings apart-like protein homolog; Regulator of sister chromatid cohesion in mitosis which negatively regulates cohesin association with chromatin. Involved in both sister chromatid cohesion during interphase and sister- chromatid resolution during early stages of mitosis. Couples DNA replication to sister chromatid cohesion. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair 9606.ENSP00000298784 FAM35A 835 Protein FAM35A; Family with sequence similarity 35 member A 9606.ENSP00000298815 ARHGAP42 874 Rho GTPase-activating protein 42; May influence blood pressure by functioning as a GTPase- activating protein for RHOA in vascular smooth muscle 9606.ENSP00000298832 TTLL5 1281 Tubulin polyglutamylase TTLL5; Polyglutamylase which preferentially modifies alpha- tubulin. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction; Tubulin tyrosine ligase family 9606.ENSP00000298854 RAPSN 412 43 kDa receptor-associated protein of the synapse; Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin; Ring finger proteins 9606.ENSP00000298875 CPSF2 782 Cleavage and polyadenylation specificity factor subunit 2; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Involved in the histone 3' end pre-mRNA processing; Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. CPSF2/YSH1 subfamily 9606.ENSP00000298892 CAPRIN2 1077 Caprin-2; Promotes phosphorylation of the Wnt coreceptor LRP6, leading to increased activity of the canonical Wnt signaling pathway. Faciliates constitutive LRP6 phosphorylation by CDK14/CCNY during G2/M stage of the cell cycle, which may potentiate cells for Wnt signaling. May regulate the transport and translation of mRNAs, modulating for instance the expression of proteins involved in synaptic plasticity in neurons (By similarity). Involved in regulation of growth as erythroblasts shift from a highly proliferative state towards their terminal phase of differentiation. May be involve [...] 9606.ENSP00000298910 LRRK2 2527 Leucine-rich repeat serine/threonine-protein kinase 2; Positively regulates autophagy through a calcium- dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact [...] 9606.ENSP00000298912 CLMN 1002 Calmin 9606.ENSP00000298925 NELL1 838 Protein kinase C-binding protein NELL1; Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization 9606.ENSP00000298943 C1QL3 255 Complement C1q-like protein 3; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). Plays a role in glucose homeostasis. Via AMPK signaling pathway, stimulates glucose uptake in adipocytes, myotubes and hepatocytes and enhances insulin-stimulated glucose uptake. In a hepatoma cell line, reduces the expression of gluconeogenic enzymes G6PC and PCK1 and hence decreases de novo glucose production (By similarity); C1q and TNF related 9606.ENSP00000298966 SMCO4 59 Single-pass membrane protein with coiled-coil domains 4; Belongs to the SMCO4 family 9606.ENSP00000299001 PIWIL4 852 Piwi-like protein 4; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from [...] 9606.ENSP00000299022 LIPC 499 Hepatic triacylglycerol lipase; Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin 9606.ENSP00000299045 TCP11L2 519 T-complex protein 11-like protein 2; T-complex 11 like 2 9606.ENSP00000299084 SPRED1 444 Sprouty-related, EVH1 domain-containing protein 1; Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow (By similarity); Protein phosphatase 1 regulatory subunits 9606.ENSP00000299088 C14orf93 538 Uncharacterized protein C14orf93; Chromosome 14 open reading frame 93 9606.ENSP00000299106 JAM3 310 Junctional adhesion molecule C; Participates in cell-cell adhesion. It is a counter- receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN). The soluble form is a mediator of angiogenesis; Belongs to the immunoglobulin superfamily 9606.ENSP00000299138 VPS35 796 Vacuolar protein sorting-associated protein 35; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may [...] 9606.ENSP00000299140 SPATA19 167 Spermatogenesis-associated protein 19, mitochondrial; May have a role in spermiogenesis 9606.ENSP00000299155 AMN 453 Protein amnionless; Necessary for efficient absorption of vitamin B12. Required for normal CUBN- mediated protein transport in the kidney. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity) 9606.ENSP00000299157 IKBIP 377 IKBKB interacting protein 9606.ENSP00000299162 FOXN4 517 Forkhead box protein N4; Transcription factor essential for neural and some non- neural tissues development, such as retina and lung respectively. Binds to an 11-bp consensus sequence containing the invariant tetranucleotide 5'-ACGC-3'. During development of the central nervous system, is required to specify the amacrine and horizontal cell fates from multipotent retinal progenitors while suppressing the alternative photoreceptor cell fates through activating DLL4- NOTCH signaling. Also acts synergistically with ASCL1/MASH1 to activate DLL4-NOTCH signaling and drive commitment of p2 pr [...] 9606.ENSP00000299163 HIF1AN 349 Hypoxia-inducible factor 1-alpha inhibitor; Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300- interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxyla [...] 9606.ENSP00000299164 ADAMTS15 950 ADAM metallopeptidase with thrombospondin type 1 motif 15 9606.ENSP00000299166 NDUFB8 186 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000299178 AVPR1A 418 Vasopressin V1a receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment 9606.ENSP00000299191 C16orf78 265 Uncharacterized protein C16orf78; Chromosome 16 open reading frame 78 9606.ENSP00000299192 HEATR3 680 HEAT repeat-containing protein 3; Armadillo-like helical domain containing 9606.ENSP00000299198 CKB 381 Creatine kinase B-type; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa 9606.ENSP00000299213 LARP6 491 La-related protein 6; Regulates the coordinated translation of type I collagen alpha-1 and alpha-2 mRNAs, CO1A1 and CO1A2. Stabilizes mRNAs through high-affinity binding of a stem-loop structure in their 5' UTR. This regulation requires VIM and MYH10 filaments, and the helicase DHX9; La ribonucleoprotein domain containing 9606.ENSP00000299237 ZNF319 582 Zinc finger protein 319; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000299238 HPS6 775 Hermansky-Pudlak syndrome 6 protein; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning 9606.ENSP00000299259 COPS2 450 COP9 signalosome complex subunit 2; Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kina [...] 9606.ENSP00000299290 TBATA 351 Protein TBATA; May play a role in spermatid differentiation. Modulates thymic stromal cell proliferation and thymus function 9606.ENSP00000299295 CHODL 273 Chondrolectin; May play a role in the development of the nervous system such as in neurite outgrowth and elongation. May be involved in motor axon growth and guidance; C-type lectin domain containing 9606.ENSP00000299299 PCBD1 104 Pterin-4-alpha-carbinolamine dehydratase; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity; Belongs to the pterin-4-alpha-carbinolamine dehydratase family 9606.ENSP00000299300 CCT2 535 T-complex protein 1 subunit beta; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin; Chaperonins 9606.ENSP00000299308 TMEM132B 1078 Transmembrane protein 132B; Belongs to the TMEM132 family 9606.ENSP00000299314 GNPTAB 1256 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment; EF-hand domain containing 9606.ENSP00000299320 C16orf71 520 Uncharacterized protein C16orf71; Chromosome 16 open reading frame 71 9606.ENSP00000299335 COX11 276 Cytochrome c oxidase assembly protein COX11, mitochondrial; Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I; Mitochondrial respiratory chain complex assembly factors 9606.ENSP00000299338 FAM227B 508 Protein FAM227B; Family with sequence similarity 227 member B 9606.ENSP00000299339 CLDN10 228 Claudin-10; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. May form permselective paracellular pores; isoform 1 appears to create pores preferentially permeable to cations and isoform 2 for anions. Plays a key role in controlling cation selectivity and transport in the thick ascending limb (TAL) of Henle's loop in kidney; Belongs to the claudin family 9606.ENSP00000299340 CYYR1 154 Cysteine and tyrosine rich 1 9606.ENSP00000299367 C2 752 Complement C2; Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase; Belongs to the peptidase S1 family 9606.ENSP00000299413 TRIM44 344 Tripartite motif-containing protein 44; May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression; Ring finger proteins 9606.ENSP00000299415 CCDC182 153 Coiled-coil domain containing 182 9606.ENSP00000299424 TAF10 218 Transcription initiation factor TFIID subunit 10; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors; Belongs to the TAF10 family 9606.ENSP00000299427 TPP1 563 Tripeptidyl-peptidase 1; Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity) 9606.ENSP00000299432 MSS51 460 Putative protein MSS51 homolog, mitochondrial; MSS51 mitochondrial translational activator; Zinc fingers MYND-type 9606.ENSP00000299440 RAG1 1043 V(D)J recombination-activating protein 1; Catalytic component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T- lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. In the RAG complex, RAG1 mediates the DNA-binding to the conserved recombination signal sequences (RSS) and catalyzes the DNA cleavage activities by introducing a double-strand break [...] 9606.ENSP00000299441 DCHS1 3298 Protocadherin-16; Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation; Cadherin related 9606.ENSP00000299443 POTED 584 POTE ankyrin domain family member D; Belongs to the POTE family 9606.ENSP00000299454 OR10A5 317 Olfactory receptor 10A5; Odorant receptor (Potential). May be involved in taste perception; Olfactory receptors, family 10 9606.ENSP00000299459 OR2D2 308 Olfactory receptor 2D2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000299481 NLRP14 1093 NACHT, LRR and PYD domains-containing protein 14; May be involved in inflammation and spermatogenesis; NLR family 9606.ENSP00000299492 PPFIBP2 876 Liprin-beta-2; May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A; Sterile alpha motif domain containing 9606.ENSP00000299505 KIAA0355 1070 Uncharacterized protein KIAA0355; KIAA0355 9606.ENSP00000299518 IDH3A 366 Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial; Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers 9606.ENSP00000299529 CRABP1 137 Cellular retinoic acid-binding protein 1; Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000299563 RNF169 708 E3 ubiquitin-protein ligase RNF169; Probable E3 ubiquitin-protein ligase that acts as a negative regulator of double-strand breaks (DSBs) repair following DNA damage. Recruited to DSB repair sites by recognizing and binding ubiquitin catalyzed by RNF168 and competes with TP53BP1 and BRCA1 for association with RNF168-modified chromatin, thereby acting as a negative regulator of DSBs repair. E3 ubiquitin- protein ligase activity is not required for regulation of DSBs repair; Ring finger proteins 9606.ENSP00000299565 CHRNA5 468 Neuronal acetylcholine receptor subunit alpha-5; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits 9606.ENSP00000299575 ATMIN 823 ATM interactor; Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription; Zinc fingers C2H2-type 9606.ENSP00000299578 C16orf46 395 Uncharacterized protein C16orf46; Chromosome 16 open reading frame 46 9606.ENSP00000299601 LEO1 666 RNA polymerase-associated protein LEO1; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox [...] 9606.ENSP00000299608 TMX3 454 Protein disulfide-isomerase TMX3; Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase 9606.ENSP00000299626 ALG8 526 Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol (By similarity); Alpha-1,3-glucosyltransferases 9606.ENSP00000299633 HDGFRP3 203 Hepatoma-derived growth factor-related protein 3; Enhances DNA synthesis and may play a role in cell proliferation 9606.ENSP00000299638 POLR2M 368 DNA-directed RNA polymerase II subunit GRINL1A; Isoform 1 appears to be a stable component of the Pol II(G) complex form of RNA polymerase II (Pol II). Pol II synthesizes mRNA precursors and many functional non-coding RNAs and is the central component of the basal RNA polymerase II transcription machinery. Isoform 1 may play a role in the Mediator complex-dependent regulation of transcription activation. Isoform 1 acts in vitro as a negative regulator of transcriptional activation; this repression is relieved by the Mediator complex, which restores Pol II(G) activator-dependent transcr [...] 9606.ENSP00000299642 CLEC3A 206 C-type lectin domain family 3 member A; Promotes cell adhesion to laminin-332 and fibronectin; C-type lectin domain containing 9606.ENSP00000299663 CLEC4E 219 C-type lectin domain family 4 member E; C-type lectin that functions as cell-surface receptor for a wide variety of ligands such as damaged cells, fungi and mycobacteria. Plays a role in the recognition of pathogenic fungi, such as Candida albicans. The detection of mycobacteria is via trehalose 6,6'-dimycolate (TDM), a cell wall glycolipid. Specifically recognizes alpha-mannose residues on pathogenic fungi of the genus Malassezia. Recognizes also SAP130, a nuclear protein, that is released by dead or dying cells. Transduces signals through an ITAM-containing adapter protein, Fc recept [...] 9606.ENSP00000299665 CLEC4D 215 C-type lectin domain family 4 member D; Functions as an endocytic receptor. May be involved in antigen uptake at the site of infection, either for clearance of the antigen, or for processing and further presentation to T cells; C-type lectin domain containing 9606.ENSP00000299687 ZNF407 2248 Zinc finger protein 407; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000299697 TK2 265 Thymidine kinase 2, mitochondrial; Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK. Widely used as target of antiviral and chemotherapeutic agents; Belongs to the DCK/DGK family 9606.ENSP00000299698 A2ML1 1454 Alpha-2-macroglobulin-like protein 1; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and [...] 9606.ENSP00000299705 TMED3 217 Transmembrane emp24 domain-containing protein 3; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network; Belongs to the EMP24/GP25L family 9606.ENSP00000299709 SLC38A8 435 Putative sodium-coupled neutral amino acid transporter 8; Putative sodium-dependent amino acid/proton antiporter; Belongs to the amino acid/polyamine transporter 2 family 9606.ENSP00000299721 CPLX4 160 Complexin-4; Positively regulates a late step in synaptic vesicle exocytosis; Belongs to the complexin/synaphin family 9606.ENSP00000299727 GALR1 349 Galanin receptor type 1; Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000299732 IQCD 347 IQ domain-containing protein D; Cilia and flagella associated 9606.ENSP00000299736 CENPV 272 Centromere protein V; Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis 9606.ENSP00000299752 CDH16 829 Cadherin-16; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000299759 RRAD 308 GTP-binding protein RAD; May play an important role in cardiac antiarrhythmia via the strong suppression of voltage-gated L-type Ca(2+) currents. Regulates voltage-dependent L-type calcium channel subunit alpha- 1C trafficking to the cell membrane (By similarity). Inhibits cardiac hypertrophy through the calmodulin-dependent kinase II (CaMKII) pathway. Inhibits phosphorylation and activation of CAMK2D; Belongs to the small GTPase superfamily. RGK family 9606.ENSP00000299766 MC4R 332 Melanocortin receptor 4; Receptor specific to the heptapeptide core common to adrenocorticotropic hormone and alpha-, beta-, and gamma-MSH. Plays a central role in energy homeostasis and somatic growth. This receptor is mediated by G proteins that stimulate adenylate cyclase (cAMP); Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000299767 HSP90B1 803 Endoplasmin; Molecular chaperone that functions in the processing and transport of secreted proteins. When associated with CNPY3, required for proper folding of Toll-like receptors (By similarity). Functions in endoplasmic reticulum associated degradation (ERAD). Has ATPase activity; Belongs to the heat shock protein 90 family 9606.ENSP00000299798 SLC9A5 896 Sodium/hydrogen exchanger 5; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction (By similarity); Solute carriers 9606.ENSP00000299821 NCAPH2 606 Condensin-2 complex subunit H2; Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture. May play a role in lineage-specific role in T-cell development (By similarity); Condensin II subunits 9606.ENSP00000299824 PPP1R16B 567 Protein phosphatase 1 regulatory inhibitor subunit 16B; Regulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function. Involved in the regulation of the PI3K/AKT signaling pathway, angiogenesis and endothelial cell proliferation. Regulates angiogenesis and endothelial cell proliferation through the control of ECE1 dephosphorylation, trafficking and activity (By similarity). Protects the endothelial barrier from lipopolysaccharide (LPS)- induced vascular leakage (By similarity). Involved in the regulation of endothelial ce [...] 9606.ENSP00000299847 CHRFAM7A 412 CHRNA7-FAM7A fusion protein; CHRNA7 fusion; Belongs to the ligand-gated ion channel (TC 1.A.9) family 9606.ENSP00000299853 POLR3E 708 DNA-directed RNA polymerase III subunit RPC5; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA th [...] 9606.ENSP00000299855 MMP3 477 Stromelysin-1; Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase; Belongs to the peptidase M10A family 9606.ENSP00000299866 TVP23A 213 Trans-golgi network vesicle protein 23 homolog A; Belongs to the TVP23 family 9606.ENSP00000299871 ZNF211 629 Zinc finger protein 211; Zinc fingers C2H2-type 9606.ENSP00000299882 TMPRSS5 457 Transmembrane protease serine 5; May play a role in hearing; Belongs to the peptidase S1 family 9606.ENSP00000299886 COG1 980 Conserved oligomeric Golgi complex subunit 1; Required for normal Golgi function; Components of oligomeric golgi complex 9606.ENSP00000299952 MARVELD3 410 MARVEL domain containing 3 9606.ENSP00000299957 CASC4 436 Protein CASC4; Cancer susceptibility 4; Belongs to the GOLM1/CASC4 family 9606.ENSP00000299977 SLFN5 891 Schlafen family member 5; May have a role in hematopoietic cell differentiation; Schlafen family 9606.ENSP00000300006 C16orf45 204 Uncharacterized protein C16orf45; Chromosome 16 open reading frame 45 9606.ENSP00000300026 PPIB 216 Peptidyl-prolyl cis-trans isomerase B; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000300030 FAM96A 160 MIP18 family protein FAM96A; May play a role in chromosome segregation through establishment of sister chromatid cohesion; Belongs to the MIP18 family 9606.ENSP00000300035 KIAA0101 111 PCNA-associated factor; PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number 9606.ENSP00000300051 LDHD 507 Probable D-lactate dehydrogenase, mitochondrial; Lactate dehydrogenase D; Belongs to the FAD-binding oxidoreductase/transferase type 4 family 9606.ENSP00000300055 PLIN1 522 Perilipin-1; Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone- sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels; Belongs to the perilipin family 9606.ENSP00000300056 PEX11A 247 Peroxisomal membrane protein 11A; May be involved in peroxisomal proliferation and may regulate peroxisomes division. May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface; Peroxins 9606.ENSP00000300057 MESP1 268 Mesoderm posterior protein 1; Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000300060 ANPEP 967 Aminopeptidase N; Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Also involved in the processing of various peptides including peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines. May also be involved the cleavage of peptides bound to major histocompatibility complex class II molecules of antigen presenting cells. May have a role in angiogenesis and promote cholesterol crystallization; Aminopeptidases 9606.ENSP00000300061 SCNN1G 649 Amiloride-sensitive sodium channel subunit gamma; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception 9606.ENSP00000300069 RBPMS2 209 RNA-binding protein with multiple splicing 2; Contributes to the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system. Binds NOG mRNA. Mediates an increase of NOG mRNA levels, and thereby contributes to the negative regulation of the BMP signaling pathway. This promotes reversible dedifferentiation of smooth muscle cells and promotes smooth muscle cell proliferation; RNA binding motif containing 9606.ENSP00000300079 GLYATL1 333 Glycine N-acyltransferase-like protein 1; Acyltransferase which transfers an acyl group to the N- terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor; Belongs to the glycine N-acyltransferase family 9606.ENSP00000300086 TERF2IP 399 Telomeric repeat-binding factor 2-interacting protein 1; Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HD [...] 9606.ENSP00000300087 DCTN5 182 Dynactin subunit 5; Belongs to the dynactin subunits 5/6 family. Dynactin subunit 5 subfamily 9606.ENSP00000300093 PLK1 603 Serine/threonine-protein kinase PLK1; Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of anaphase-promoting complex/cyclosome (APC/C) inhibitors, and the regulation of mitotic exit and cytokinesis. Polo-like kinase proteins acts by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates BORA, BUB1B/BUBR1, CC [...] 9606.ENSP00000300098 GPR182 404 G-protein coupled receptor 182; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000300101 ZBTB39 712 Zinc finger and BTB domain-containing protein 39; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000300105 CACNG2 323 Voltage-dependent calcium channel gamma-2 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily 9606.ENSP00000300107 CLPX 633 ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP. Targets specific substrates for degradation by the Clp complex. Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure. ATP- dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in h [...] 9606.ENSP00000300113 CHP2 196 Calcineurin B homologous protein 2; Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Binds to and activates SLC9A1/NHE1 in a serum-independent manner, thus increasing pH and protecting cells from serum deprivation- induced death. Also plays a role in the regulation of cell proliferation and tumor growth by increasing the phosphatase activity of PPP3CA in a calcium-dependent manner. Activator of the calcineurin/NFAT signaling pathway. Involved in the cytoplasmic translocation of the transcription factor NFATC3 to t [...] 9606.ENSP00000300127 OR4D6 314 Olfactory receptor 4D6; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000300128 TMEM194A 444 Transmembrane protein 194A 9606.ENSP00000300131 NAB2 525 NGFI-A-binding protein 2; Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Isoform 2 lacks repression ability (By similarity); Belongs to the NAB family 9606.ENSP00000300134 STAT6 847 Signal transducer and activator of transcription 6; Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling; SH2 domain containing 9606.ENSP00000300145 XRCC6BP1 246 Mitochondrial inner membrane protease ATP23 homolog; XRCC6 binding protein 1; Belongs to the peptidase M76 family 9606.ENSP00000300146 PATL1 770 Protein PAT1 homolog 1; RNA-binding protein involved in deadenylation-dependent decapping of mRNAs, leading to the degradation of mRNAs. Acts as a scaffold protein that connects deadenylation and decapping machinery. Required for cytoplasmic mRNA processing body (P-body) assembly. In case of infection, required for translation and replication of hepatitis C virus (HCV); Belongs to the PAT1 family 9606.ENSP00000300151 MRPL16 251 Mitochondrial ribosomal protein L16; Belongs to the universal ribosomal protein uL16 family 9606.ENSP00000300175 SCG5 212 Neuroendocrine protein 7B2; Acts as a molecular chaperone for PCSK2/PC2, preventing its premature activation in the regulated secretory pathway. Binds to inactive PCSK2 in the endoplasmic reticulum and facilitates its transport from there to later compartments of the secretory pathway where it is proteolytically matured and activated. Also required for cleavage of PCSK2 but does not appear to be involved in its folding. Plays a role in regulating pituitary hormone secretion. The C-terminal peptide inhibits PCSK2 in vitro; Granins 9606.ENSP00000300176 AGFG2 481 Arf-GAP domain and FG repeat-containing protein 2; ArfGAP with FG repeats 2; ArfGAPs 9606.ENSP00000300179 NYAP1 841 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1; Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis; Belongs to the NYAP family 9606.ENSP00000300181 TSC22D4 395 TSC22 domain family protein 4; Transcriptional repressor 9606.ENSP00000300182 MS4A6E 147 Membrane-spanning 4-domains subfamily A member 6E; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000300184 MS4A7 240 Membrane-spanning 4-domains subfamily A member 7; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family 9606.ENSP00000300190 MS4A5 200 Membrane-spanning 4-domains subfamily A member 5; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000300209 METTL21B 226 EEF1A lysine methyltransferase 3; Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at 'Lys-165' in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation; Belongs to the methyltransferase superfamily. METTL21 family 9606.ENSP00000300213 CCNDBP1 360 Cyclin-D1-binding protein 1; May negatively regulate cell cycle progression. May act at least in part via inhibition of the cyclin-D1/CDK4 complex, thereby preventing phosphorylation of RB1 and blocking E2F- dependent transcription 9606.ENSP00000300215 EPB42 721 Erythrocyte membrane protein band 4.2; Probably plays an important role in the regulation of erythrocyte shape and mechanical properties; Belongs to the transglutaminase superfamily. Transglutaminase family 9606.ENSP00000300226 MS4A8 250 Membrane-spanning 4-domains subfamily A member 8; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000300231 MAP1A 2803 Microtubule-associated protein 1A; Structural protein involved in the filamentous cross- bridging between microtubules and other skeletal elements 9606.ENSP00000300249 MAPRE2 327 Microtubule-associated protein RP/EB family member 2; May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity); Belongs to the MAPRE family 9606.ENSP00000300255 EVA1C 441 Protein eva-1 homolog C; Binds heparin; Belongs to the EVA1 family 9606.ENSP00000300258 TCP10L 215 T-complex protein 10A homolog 2; May be involved in transcriptional regulation. Has in vitro transcription inhibition activity. Acts as a tumor suppressor in hepatocellular carcinoma (HCC) cells 9606.ENSP00000300283 CKMT1B 417 Creatine kinase, mitochondrial 1B; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa 9606.ENSP00000300289 PDIA3 505 Protein disulfide-isomerase A3; Protein disulfide isomerase family A member 3; Belongs to the protein disulfide isomerase family 9606.ENSP00000300291 NUDT21 227 Cleavage and polyadenylation specificity factor subunit 5; Component of the cleavage factor Im (CFIm) complex that plays a key role in pre-mRNA 3'-processing. Involved in association with CPSF6 or CPSF7 in pre-MRNA 3'-end poly(A) site cleavage and poly(A) addition. NUDT21/CPSF5 binds to cleavage and polyadenylation RNA substrates. The homodimer mediates simultaneous sequence-specific recognition of two 5'-UGUA-3' elements within the pre-mRNA. Binds to, but does not hydrolyze mono- and di-adenosine nucleotides. May have a role in mRNA export; Nudix hydrolase family 9606.ENSP00000300303 NAT16 369 Probable N-acetyltransferase 16; Probable N-acetyltransferase. Shows only trace activity toward L-His and no N-acetyltransferase activity toward other amino acids. The physiological substrate of this enzyme is unknown; GCN5 related N-acetyltransferases 9606.ENSP00000300305 RUNX1 480 Runt-related transcription factor 1; CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B- dependent transcriptional activation. Controls the [...] 9606.ENSP00000300403 TPX2 747 Targeting protein for Xklp2; Spindle assembly factor required for normal assembly of mitotic spindles. Required for normal assembly of microtubules during apoptosis. Required for chromatin and/or kinetochore dependent microtubule nucleation. Mediates AURKA localization to spindle microtubules. Activates AURKA by promoting its autophosphorylation at 'Thr-288' and protects this residue against dephosphorylation. TPX2 is inactivated upon binding to importin- alpha. At the onset of mitosis, GOLGA2 interacts with importin-alpha, liberating TPX2 from importin-alpha, allowing TPX2 to activate [...] 9606.ENSP00000300404 B4GALNT2 566 Beta-1,4 N-acetylgalactosaminyltransferase 2; Involved in the synthesis of the Sd(a) antigen (Sia- alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain 9606.ENSP00000300413 SNRPD1 119 Small nuclear ribonucleoprotein Sm D1; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP- snRNP interactions through nonspecific [...] 9606.ENSP00000300433 TMEM92 159 Transmembrane protein 92 9606.ENSP00000300452 COQ4 265 Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial; Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides 9606.ENSP00000300456 SLC27A4 643 Long-chain fatty acid transport protein 4; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids (VLCFAs). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity); [...] 9606.ENSP00000300504 TBC1D21 336 TBC1 domain family member 21; May act as a GTPase-activating protein for Rab family protein(s). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity 9606.ENSP00000300527 COL6A2 1019 Collagen alpha-2(VI) chain; Collagen VI acts as a cell-binding protein; Collagens 9606.ENSP00000300557 PRR15L 103 Proline-rich protein 15-like protein; Proline rich 15 like; Belongs to the PRR15 family 9606.ENSP00000300571 GPRC5B 403 G-protein coupled receptor family C group 5 member B; Unknown. This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways; G protein-coupled receptors, Class C orphans 9606.ENSP00000300574 CRK 304 Adapter molecule crk; Isoform Crk-II: Regulates cell adhesion, spreading and migration. Mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4. May regulate the EFNA5-EPHA3 signaling 9606.ENSP00000300575 C16orf92 132 Uncharacterized protein C16orf92; Chromosome 16 open reading frame 92 9606.ENSP00000300576 GOLGA6C 693 Golgin A6 family member C; Belongs to the GOLGA6 family 9606.ENSP00000300584 TBC1D2B 963 TBC1 domain family member 2B; May act as a GTPase-activating protein 9606.ENSP00000300589 NOD2 1040 Nucleotide-binding oligomerization domain-containing protein 2; Involved in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macroph [...] 9606.ENSP00000300591 LOXHD1 1114 Lipoxygenase homology domain-containing protein 1; Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity); Deafness associated genes 9606.ENSP00000300605 HDHD2 259 Haloacid dehalogenase like hydrolase domain containing 2 9606.ENSP00000300619 ZNF91 1191 Zinc finger protein 91; Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1. May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidences are required to confirm this result in vivo; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000300648 GCN1L1 2671 eIF-2-alpha kinase activator GCN1; Acts as a positive activator of the EIF2AK4/GCN2 protein kinase activity in response to amino acid starvation. Forms a complex with EIF2AK4/GCN2 on translating ribosomes; during this process, GCN1 seems to act as a chaperone to facilitate delivery of uncharged tRNAs that enter the A site of ribosomes to the tRNA- binding domain of EIF2AK4/GCN2, and hence stimulating EIF2AK4/GCN2 kinase activity. Participates in the repression of global protein synthesis and in gene-specific mRNA translation activation, such as the transcriptional activator ATF4, by pr [...] 9606.ENSP00000300650 RNF214 703 Ring finger protein 214 9606.ENSP00000300651 MED1 1581 Mediator of RNA polymerase II transcription subunit 1; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Acts as a coactivator for [...] 9606.ENSP00000300658 PGAP3 320 Post-GPI attachment to proteins factor 3; Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable); Belongs to the PGAP3 family 9606.ENSP00000300659 NFATC3 1075 Nuclear factor of activated T-cells, cytoplasmic 3; Acts as a regulator of transcriptional activation. Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2; Nuclear factors of activated T-cells 9606.ENSP00000300688 ATP5L 103 ATP synthase subunit g, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...] 9606.ENSP00000300692 CD3D 171 T-cell surface glycoprotein CD3 delta chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of d [...] 9606.ENSP00000300714 ENTHD2 525 AP-4 complex accessory subunit Tepsin; Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network 9606.ENSP00000300738 RRM1 792 Ribonucleoside-diphosphate reductase large subunit; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides 9606.ENSP00000300747 TRIM68 485 E3 ubiquitin-protein ligase TRIM68; Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity; Ring finger proteins 9606.ENSP00000300773 OR51B5 312 Olfactory receptor 51B5; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000300778 OR51Q1 317 Olfactory receptor 51Q1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000300784 FN3K 309 Fructosamine-3-kinase; May initiate a process leading to the deglycation of fructoselysine and of glycated proteins. May play a role in the phosphorylation of 1-deoxy-1-morpholinofructose (DMF), fructoselysine, fructoseglycine, fructose and glycated lysozyme 9606.ENSP00000300811 ZNF428 188 Zinc finger protein 428; Zinc fingers C2H2-type 9606.ENSP00000300850 ZNF646 1832 Zinc finger protein 646; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000300870 ZNF267 743 Zinc finger protein 267; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000300873 GNG8 70 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000300896 USP32 1604 Ubiquitin specific peptidase 32; Belongs to the peptidase C19 family 9606.ENSP00000300900 CA4 312 Carbonic anhydrase 4; Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid; Belongs to the alpha-carbonic anhydrase family 9606.ENSP00000300935 RAB8A 207 Ras-related protein Rab-8A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes t [...] 9606.ENSP00000300952 MIDN 468 Midnolin; Facilitates ubiquitin-independent proteasomal degradation of polycomb protein CBX4. Plays a role in inhibiting the activity of glucokinase GCK and both glucose-induced and basal insulin secretion 9606.ENSP00000300954 PCSK4 755 Proprotein convertase subtilisin/kexin type 4; Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Plays also a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be throu [...] 9606.ENSP00000300961 JSRP1 331 Junctional sarcoplasmic reticulum protein 1; Involved in skeletal muscle excitation/contraction coupling (EC), probably acting as a regulator of the voltage- sensitive calcium channel CACNA1S. EC is a physiological process whereby an electrical signal (depolarization of the plasma membrane) is converted into a chemical signal, a calcium gradient, by the opening of ryanodine receptor calcium release channels. May regulate CACNA1S membrane targeting and activity 9606.ENSP00000300976 KLHL26 615 Kelch-like protein 26; Kelch like family member 26; BTB domain containing 9606.ENSP00000301012 MVD 400 Diphosphomevalonate decarboxylase; Performs the first committed step in the biosynthesis of isoprenes 9606.ENSP00000301015 PIEZO1 2521 Piezo-type mechanosensitive ion channel component 1; Pore-forming subunit of a mechanosensitive non-specific cation channel. Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling. In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor th [...] 9606.ENSP00000301019 CDT1 546 DNA replication factor Cdt1; Required for both DNA replication and mitosis. DNA replication licensing factor, required for pre-replication complex assembly. Cooperates with CDC6 and the origin recognition complex (ORC) during G1 phase of the cell cycle to promote the loading of the mini-chromosome maintenance (MCM) complex onto DNA to generate pre-replication complexes (pre- RC). Required also for mitose by promoting stable kinetochore-microtubule attachments. Potential oncogene (By similarity); Belongs to the Cdt1 family 9606.ENSP00000301021 TRAPPC2L 140 Trafficking protein particle complex subunit 2-like protein; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. Sedlin subfamily 9606.ENSP00000301030 ANKRD11 2663 Ankyrin repeat domain-containing protein 11; Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Has a role in proliferation and development of cortical neural precursors. May also regulate bone homeostasis (By similarity); Ankyrin repeat domain containing 9606.ENSP00000301037 SGK494 410 Uncharacterized serine/threonine-protein kinase SgK494; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000301039 PROCA1 336 Protein interacting with cyclin A1; Belongs to the PROCA1 family 9606.ENSP00000301046 LALBA 142 Alpha-lactalbumin; Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins; Belongs to the glycosyl hydrolase 22 family 9606.ENSP00000301050 CACNB3 484 Voltage-dependent L-type calcium channel subunit beta-3; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting 9606.ENSP00000301057 TP53I13 393 Tumor protein p53-inducible protein 13; May act as a tumor suppressor. Inhibits tumor cell growth, when overexpressed 9606.ENSP00000301061 WNT10B 389 Protein Wnt-10b; Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional programs. Involved in signaling networks controlling stemness, pluripotency and cell fate decisions. Acts in the immune system, mammary gland, adipose tissue, bone and skin; Belongs to the Wnt family 9606.ENSP00000301067 KMT2D 5537 Histone-lysine N-methyltransferase 2D; Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily 9606.ENSP00000301068 RHEBL1 183 GTPase RhebL1; Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2 9606.ENSP00000301071 TUBA1A 451 Tubulin alpha-1A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Tubulins 9606.ENSP00000301072 TUBA1C 449 Tubulin alpha-1C chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Belongs to the tubulin family 9606.ENSP00000301141 CYP2A6 494 Cytochrome P450 2A6; Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major nicotine C-oxidase. Acts as a 1,4- cineole 2-exo-monooxygenase. Possesses low phenacetin O- deethylation activity; Cytochrome P450 family 2 9606.ENSP00000301146 CYP2A7 494 Cytochrome P450 2A7; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics 9606.ENSP00000301149 GPD1 349 Glycerol-3-phosphate dehydrogenase 1; Belongs to the NAD-dependent glycerol-3-phosphate dehydrogenase family 9606.ENSP00000301159 LIN37 246 Protein lin-37 homolog; Lin-37 DREAM MuvB core complex component 9606.ENSP00000301175 PRODH2 536 Hydroxyproline dehydrogenase; Dehydrogenase that converts trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate (Hyp) using ubiquinone- 10 as the terminal electron acceptor. Can also use proline as a substrate but with a very much lower efficiency. Does not react with other diastereomers of Hyp: trans-4-D-hydroxyproline and cis- 4-L-hydroxyproline. Ubiquininone analogs such as menadione, duroquinone and ubiquinone-1 react more efficiently than oxygen as the terminal electron acceptor during catalysis 9606.ENSP00000301178 AXL 894 Tyrosine-protein kinase receptor UFO; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, ALX binds and induces tyrosine phosphorylation of PI3- kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidate [...] 9606.ENSP00000301180 DIP2B 1576 Disco interacting protein 2 homolog B 9606.ENSP00000301190 ANKRD33 452 Photoreceptor ankyrin repeat protein; Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation; Ankyrin repeat domain containing 9606.ENSP00000301200 CDC42EP5 148 Cdc42 effector protein 5; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (By similarity); Belongs to the BORG/CEP family 9606.ENSP00000301202 LAIR2 152 Leukocyte associated immunoglobulin like receptor 2; CD molecules 9606.ENSP00000301204 TMEM145 493 Transmembrane protein 145 9606.ENSP00000301215 ZNF526 670 Zinc finger protein 526; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000301242 PPP1R14A 147 Protein phosphatase 1 regulatory subunit 14A; Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction 9606.ENSP00000301244 SPINT2 252 Kunitz-type protease inhibitor 2; Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa 9606.ENSP00000301246 C19orf33 106 Immortalization up-regulated protein; Chromosome 19 open reading frame 33 9606.ENSP00000301258 PSCA 114 Prostate stem cell antigen; May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro; LY6/PLAUR domain containing 9606.ENSP00000301263 LY6D 128 Lymphocyte antigen 6D; May act as a specification marker at earliest stage specification of lymphocytes between B- and T-cell development. Marks the earliest stage of B-cell specification; LY6/PLAUR domain containing 9606.ENSP00000301272 TMIGD2 282 Transmembrane and immunoglobulin domain-containing protein 2; Plays a role in cell-cell interaction, cell migration, and angiogenesis. Through interaction with HHLA2, costimulates T- cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade; Immunoglobulin like domain containing 9606.ENSP00000301280 CHAF1A 956 Chromatin assembly factor 1 subunit A; Core component of the CAF-1 complex, a complex thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. CHAF1A binds to histones H3 and H4. It may play a role in heterochromatin maintenance in proliferating cells by bringing newly [...] 9606.ENSP00000301281 UBXN6 441 UBX domain-containing protein 6; May negatively regulate the ATPase activity of VCP, an ATP-driven segregase that associates with different cofactors to control a wide variety of cellular processes. As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation. It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes; UBX domain containing 9606.ENSP00000301286 PLIN4 1357 Perilipin-4; May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity); Belongs to the perilipin family 9606.ENSP00000301295 NLRP4 994 NACHT, LRR and PYD domains-containing protein 4; May be involved in inflammation and recognition of cytosolic pathogen-associated molecular patterns (PAMPs) not intercepted by membrane-bound receptors. Acts as a negative regulator of the type I interferon signaling pathway by serving as an adapter to promote DTX4-mediated ubiquitination of activated TBK1, and its subsequent degradation. Suppresses NF-kappaB induction by the cytokines TNFA and IL1B, suggesting that it operates at a point of convergence in these two cytokine signaling pathways; Belongs to the NLRP family 9606.ENSP00000301305 SLC39A4 647 Zinc transporter ZIP4; Plays an important role in cellular zinc homeostasis as a zinc transporter. Regulated in response to zinc availability (By similarity); Solute carriers 9606.ENSP00000301310 ZNF582 517 Zinc finger protein 582; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000301318 ZFP28 868 Zinc finger protein 28 homolog; May be involved in transcriptional regulation. May have a role in embryonic development; Zinc fingers C2H2-type 9606.ENSP00000301327 MFSD3 412 Major facilitator superfamily domain containing 3 9606.ENSP00000301329 GLOD4 298 Glyoxalase domain containing 4 9606.ENSP00000301332 KIFC2 838 Kinesin-like protein KIFC2; May play a role in microtubule-dependent retrograde axonal transport. May function as the motor for the transport of multivesicular body (MVB)-like organelles in dendrites (By similarity); Kinesins 9606.ENSP00000301336 RILP 401 Rab-interacting lysosomal protein; Rab effector playing a role in late endocytic transport to degradative compartments. Involved in the regulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes 9606.ENSP00000301364 TSR1 804 Pre-rRNA-processing protein TSR1 homolog; Required during maturation of the 40S ribosomal subunit in the nucleolus 9606.ENSP00000301365 TRPV3 791 Transient receptor potential cation channel subfamily V member 3; Putative receptor-activated non-selective calcium permeant cation channel. It is activated by innocuous (warm) temperatures and shows an increased response at noxious temperatures greater than 39 degrees Celsius. Activation exhibits an outward rectification. May associate with TRPV1 and may modulate its activity. Is a negative regulator of hair growth and cycling: TRPV3-coupled signaling suppresses keratinocyte proliferation in hair follicles and induces apoptosis and premature hair follicle regression (catagen); Ankyrin [...] 9606.ENSP00000301391 CYB5D2 264 Neuferricin; Heme-binding protein which promotes neuronal but not astrocyte differentiation; Membrane associated progesterone receptor family 9606.ENSP00000301396 PELP1 1180 Proline-, glutamic acid- and leucine-rich protein 1; Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence- specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/ [...] 9606.ENSP00000301399 ZNF577 485 Zinc finger protein 577; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000301407 CGB1 155 Chorionic gonadotropin beta subunit 1 9606.ENSP00000301408 CGB5 165 Chorionic gonadotropin beta subunit 5 9606.ENSP00000301420 KLK1 262 Kallikrein-1; Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin; Belongs to the peptidase S1 family. Kallikrein subfamily 9606.ENSP00000301452 ACER1 264 Alkaline ceramidase 1; Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 8.0. Has a highly restricted substrate specificity for the natural stereoisomer of ceramide with D-erythro-sphingosine but not D-ribo- phytosphingosine or D-erythro-dihydrosphingosine as a backbone. May have a role in regulating the levels of bioactive lipids ceramide and sphingosine 1-phosphate, as well as complex sphingolipids (By similarity); Alkaline ceramidases 9606.ENSP00000301454 SLC25A23 468 Calcium-binding mitochondrial carrier protein SCaMC-3; Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria. Acts as a regulator of mitochondrial calcium uptake via interaction with MCU and MICU1; EF-hand domain containing 9606.ENSP00000301455 ANGPTL4 406 Angiopoietin-related protein 4; Protein with hypoxia-induced expression in endothelial cells. May act as a regulator of angiogenesis and modulate tumorigenesis. Inhibits proliferation, migration, and tubule formation of endothelial cells and reduces vascular leakage. May exert a protective function on endothelial cells through an endocrine action. It is directly involved in regulating glucose homeostasis, lipid metabolism, and insulin sensitivity. In response to hypoxia, the unprocessed form of the protein accumulates in the subendothelial extracellular matrix (ECM). The matrix-associa [...] 9606.ENSP00000301457 NDUFA7 113 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000301458 CD320 282 CD320 antigen; Receptor for transcobalamin saturated with cobalamin (TCbl). Plays an important role in cobalamin uptake. Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells. Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation. Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC). CD320 augments the proliferation of PC precursors gen [...] 9606.ENSP00000301459 RCOR2 523 REST corepressor 2; May act as a component of a corepressor complex that represses transcription; Myb/SANT domain containing 9606.ENSP00000301463 SPRYD3 442 SPRY domain containing 3 9606.ENSP00000301464 IGFBP6 240 Insulin-like growth factor-binding protein 6; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors 9606.ENSP00000301466 SOAT2 522 Sterol O-acyltransferase 2; Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa; Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily 9606.ENSP00000301480 ZNF560 790 Zinc finger protein 560; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000301488 CDK2AP2 126 Cyclin-dependent kinase 2-associated protein 2; Plays a role in regulating the self-renewal of embryonic stem cells (ESCs) and in maintaining cell survival during terminal differentiation of ESCs. Regulates microtubule organization of metaphase II oocytes (By similarity). Inhibits cell cycle G1/S phase transition by repressing CDK2 expression and activation; represses CDK2 activation by inhibiting its interaction with cyclin E and A 9606.ENSP00000301522 PRDX2 198 Peroxiredoxin-2; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2); Belongs to the peroxiredoxin family. AhpC/Prx1 subfamily 9606.ENSP00000301529 OR8J3 315 Olfactory receptor 8J3; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000301532 OR5I1 314 Olfactory receptor 5I1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000301547 ZNF443 671 Zinc finger protein 443; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000301585 ICT1 206 Peptidyl-tRNA hydrolase ICT1, mitochondrial; Essential peptidyl-tRNA hydrolase component of the mitochondrial large ribosomal subunit. Acts as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion, possibly in case of abortive elongation. May be involved in the hydrolysis of peptidyl-tRNAs that have been prematurely terminated and thus in the recycling of stalled mitochondrial ribosomes 9606.ENSP00000301587 ATP5H 161 ATP synthase subunit d, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...] 9606.ENSP00000301599 TMEM88 159 Transmembrane protein 88; Inhibits the Wnt/beta-catenin signaling pathway. Crucial for heart development and acts downstream of GATA factors in the pre-cardiac mesoderm to specify lineage commitment of cardiomyocyte development 9606.ENSP00000301607 EVPL 2033 Envoplakin; Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments; Plakins 9606.ENSP00000301633 BIRC5 165 Baculoviral IAP repeat containing 5 9606.ENSP00000301634 TK1 234 Thymidine kinase, cytosolic; Thymidine kinase 1; Belongs to the thymidine kinase family 9606.ENSP00000301645 CYP7A1 504 Cholesterol 7-alpha-monooxygenase; Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis; Cytochrome P450 family 7 9606.ENSP00000301653 KRT16 473 Keratin, type I cytoskeletal 16; Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance 9606.ENSP00000301656 KRT27 459 Keratin, type I cytoskeletal 27; Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) 9606.ENSP00000301659 GSDMA 445 Gasdermin-A; May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)-bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity. The physiological relevance of these observations is unknown (Probable); Gasdermins 9606.ENSP00000301671 GHDC 530 GH3 domain-containing protein; GH3 domain containing; Belongs to the GH3 family 9606.ENSP00000301691 SOST 213 Sclerostin; Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation; DAN family 9606.ENSP00000301698 PRR25 402 Proline-rich protein 25; Proline rich 25 9606.ENSP00000301712 UNKL 277 Putative E3 ubiquitin-protein ligase UNKL; May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven; Belongs to the unkempt family 9606.ENSP00000301727 E4F1 784 Transcription factor E4F1; May function as a transcriptional repressor. May also function as a ubiquitin ligase mediating ubiquitination of chromatin-associated TP53. Functions in cell survival and proliferation through control of the cell cycle. Functions in the p53 and pRB tumor suppressor pathways and regulates the cyclin CCNA2 transcription; Zinc fingers C2H2-type 9606.ENSP00000301729 ECI1 302 Enoyl-CoA delta isomerase 1, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species 9606.ENSP00000301732 ABCA3 1704 ATP-binding cassette sub-family A member 3; Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol; Belongs to the ABC transporter superfamily. ABCA family 9606.ENSP00000301738 KCTD5 234 BTB/POZ domain-containing protein KCTD5; Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex. Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4 9606.ENSP00000301740 SRRM2 2752 Serine/arginine repetitive matrix protein 2; Involved in pre-mRNA splicing. May function at or prior to the first catalytic step of splicing at the catalytic center of the spliceosome. May do so by stabilizing the catalytic center or the position of the RNA substrate (By similarity). Binds to RNA; Belongs to the CWC21 family 9606.ENSP00000301744 ZNF597 424 Zinc finger protein 597; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000301761 SDHAF2 166 Succinate dehydrogenase assembly factor 2, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer 9606.ENSP00000301764 DDB1 1140 DNA damage-binding protein 1; Required for DNA repair. Binds to DDB2 to form the UV- damaged DNA-binding protein complex (the UV-DDB complex). The UV- DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiq [...] 9606.ENSP00000301765 VPS37C 355 Vacuolar protein sorting-associated protein 37C; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation 9606.ENSP00000301785 HNRNPUL2 747 Heterogeneous nuclear ribonucleoprotein U like 2 9606.ENSP00000301788 POLR2G 172 DNA-directed RNA polymerase II subunit RPB7; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB7 is part of a subcomplex with RPB4 that binds to a pocket formed by RPB1, RPB2 and RPB6 at the base of the clamp element. The RBP4-RPB7 subcomplex seems [...] 9606.ENSP00000301790 HRASLS5 279 Ca(2+)-independent N-acyltransferase; Catalyzes N-acylation of phosphatidylethanolamine (PE) to generate N-Acylphosphatidylethanolamine (NAPE) a precursor of bioactive N-acylethanolamines, including the endocannabinoid anandamide; Belongs to the H-rev107 family 9606.ENSP00000301825 ENTPD3 529 Ectonucleoside triphosphate diphosphohydrolase 3; Has a threefold preference for the hydrolysis of ATP over ADP 9606.ENSP00000301831 ULK4 1275 Serine/threonine-protein kinase ULK4; May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily 9606.ENSP00000301838 FADD 208 FAS-associated death domain protein; Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors. The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation. Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis. Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling; Death effector domain containing 9606.ENSP00000301873 LTBP3 1303 Latent-transforming growth factor beta-binding protein 3; May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM); Belongs to the LTBP family 9606.ENSP00000301887 BATF2 274 Basic leucine zipper transcriptional factor ATF-like 2; AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes (By similarity). Selectively suppresses CYR61/CCN1 transcription and hence blocks the downstream cell proliferation signals produced b [...] 9606.ENSP00000301891 SLC22A11 550 Solute carrier family 22 member 11; Mediates saturable uptake of estrone sulfate, dehydroepiandrosterone sulfate and related compounds; Solute carriers 9606.ENSP00000301896 C11orf85 216 Membrane-anchored junction protein; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release [...] 9606.ENSP00000301904 SCARA3 606 Scavenger receptor class A member 3; Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation; Scavenger receptors 9606.ENSP00000301908 PNOC 176 Prepronociceptin; Nociceptin: Ligand of the opioid receptor-like receptor OPRL1. It may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. May be involved in neuronal differentiation and development; Belongs to the opioid neuropeptide precursor family 9606.ENSP00000301917 GPR25 361 Probable G-protein coupled receptor 25; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000301921 SOX7 388 Transcription factor SOX-7; Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5'- AACAA [...] 9606.ENSP00000301924 TRIM35 493 Tripartite motif-containing protein 35; Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth. Involved in the cell death mechanism (By similarity); Ring finger proteins 9606.ENSP00000301939 TMEM256 113 Transmembrane protein 256 9606.ENSP00000301945 ANTXR1 564 Anthrax toxin receptor 1; Plays a role in cell attachment and migration. Interacts with extracellular matrix proteins and with the actin cytoskeleton. Mediates adhesion of cells to type 1 collagen and gelatin, reorganization of the actin cytoskeleton and promotes cell spreading. Plays a role in the angiogenic response of cultured umbilical vein endothelial cells 9606.ENSP00000301956 ACSM1 577 Acyl-coenzyme A synthetase ACSM1, mitochondrial; Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro). Functions as GTP-dependent lipoate- activating enzyme that generates the substrate for lipoyltransferase (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000301962 USP42 1316 Ubiquitin carboxyl-terminal hydrolase 42; Deubiquitinating enzyme which may play an important role during spermatogenesis; Ubiquitin specific peptidases 9606.ENSP00000301972 MYRIP 859 Rab effector MyRIP; Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity) 9606.ENSP00000302037 MFF 342 Mitochondrial fission factor; Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles 9606.ENSP00000302046 RNASE6 150 Ribonuclease K6; May have a role in host defense; Ribonuclease A family 9606.ENSP00000302051 ECEL1 775 Endothelin-converting enzyme-like 1; May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides; M13 metallopeptidases 9606.ENSP00000302057 OR5AU1 362 Olfactory receptor 5AU1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000302079 C3AR1 482 C3a anaphylatoxin chemotactic receptor; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production; Complement component GPCRs 9606.ENSP00000302100 LGALS4 323 Galectin-4; Galectin that binds lactose and a related range of sugars. May be involved in the assembly of adherens junctions; Galectins 9606.ENSP00000302105 CRYGA 174 Gamma-crystallin A; Crystallins are the dominant structural components of the vertebrate eye lens 9606.ENSP00000302108 PANK1 598 Pantothenate kinase 1; Plays a role in the physiological regulation of the intracellular CoA concentration; Belongs to the type II pantothenate kinase family 9606.ENSP00000302111 MGMT 238 Methylated-DNA--protein-cysteine methyltransferase; Involved in the cellular defense against the biological effects of O6-methylguanine (O6-MeG) and O4-methylthymine (O4-MeT) in DNA. Repairs the methylated nucleobase in DNA by stoichiometrically transferring the methyl group to a cysteine residue in the enzyme. This is a suicide reaction: the enzyme is irreversibly inactivated; Belongs to the MGMT family 9606.ENSP00000302114 PRELID1 219 PRELI domain-containing protein 1, mitochondrial; Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4-induce [...] 9606.ENSP00000302120 TRIM8 551 Probable E3 ubiquitin-protein ligase TRIM8; Probable E3 ubiquitin-protein ligase which may promote proteasomal degradation of SOCS1; Belongs to the TRIM/RBCC family 9606.ENSP00000302144 TMEM154 183 Transmembrane protein 154 9606.ENSP00000302150 PRL 227 Prolactin; Prolactin acts primarily on the mammary gland by promoting lactation; Growth hormone family 9606.ENSP00000302160 LSM3 102 U6 snRNA-associated Sm-like protein LSm3; Binds specifically to the 3'-terminal U-tract of U6 snRNA; Belongs to the snRNP Sm proteins family 9606.ENSP00000302177 MBOAT2 520 Lysophospholipid acyltransferase 2; Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3- phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2- diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling [...] 9606.ENSP00000302189 NHLH1 133 Helix-loop-helix protein 1; May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system; Basic helix-loop-helix proteins 9606.ENSP00000302194 ATP6V1G2 118 V-type proton ATPase subunit G 2; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells 9606.ENSP00000302199 OR10V1 309 Olfactory receptor 10V1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000302202 C2orf15 125 Uncharacterized protein C2orf15; Chromosome 2 open reading frame 15 9606.ENSP00000302216 ATOH1 354 Protein atonal homolog 1; Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000302222 ZNF25 456 Zinc finger protein 25; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000302232 ALKBH3 286 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3; Dioxygenase that mediates demethylation of DNA and RNA containing 1-methyladenosine (m1A). Repairs alkylated DNA containing 1- methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidative demethylation. Has a strong preference for single-stranded DNA. Able to process alkylated m3C within double-stranded regions via its interaction with ASCC3, which promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3. Also acts on RNA. Demethylates N(1)- methyladenosine (m1A) RNA, an epigenetic internal modification of [...] 9606.ENSP00000302234 CCL11 97 Eotaxin; In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3; Chemokine ligands 9606.ENSP00000302251 GBX2 348 Homeobox protein GBX-2; May act as a transcription factor for cell pluripotency and differentiation in the embryo; HOXL subclass homeoboxes 9606.ENSP00000302260 C8orf46 207 Uncharacterized protein C8orf46; Chromosome 8 open reading frame 46 9606.ENSP00000302274 C1QTNF4 329 Complement C1q tumor necrosis factor-related protein 4; May act as a pro-inflammatory cytokine, that induces the activation of NF-kappa-B signaling pathway and up-regulates IL6 production; C1q and TNF related 9606.ENSP00000302276 HEXIM2 286 Protein HEXIM2; Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation 9606.ENSP00000302289 EMB 327 Embigin; Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity); I-set domain containing 9606.ENSP00000302297 LGI3 548 Leucine-rich repeat LGI family member 3; May participate in the regulation of neuronal exocytosis 9606.ENSP00000302310 ZNF396 333 Zinc finger protein 396; Isoform 1 and isoform 2 act as DNA-dependent transcriptional repressors; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000302324 RNASE3 160 Eosinophil cationic protein; Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity, including cytoplasmic membrane depolarization of preferentially Gram-negative, but also Gram-positive strains. Promotes E.coli outer membrane detachment, alteration of the overall cell shape and partial loss of cell content 9606.ENSP00000302327 PYGO1 419 Pygopus homolog 1; Involved in signal transduction through the Wnt pathway; PHD finger proteins 9606.ENSP00000302393 LDHAL6B 381 Lactate dehydrogenase A like 6B 9606.ENSP00000302400 SMR3B 79 Submaxillary gland androgen regulated protein 3B; Belongs to the PROL1/PROL3 family 9606.ENSP00000302413 TPST1 370 Protein-tyrosine sulfotransferase 1; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate; Belongs to the protein sulfotransferase family 9606.ENSP00000302422 OR52K1 314 Olfactory receptor 52K1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000302437 OR10G3 313 Olfactory receptor 10G3; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000302441 NANP 248 N-acylneuraminate-9-phosphatase; Haloacid dehalogenase like hydrolase domain containing; HAD Asp-based non-protein phosphatases 9606.ENSP00000302456 KLF13 288 Krueppel-like factor 13; Represses transcription by binding to the BTE site, a GC-rich DNA element, in competition with the activator SP1. It also represses transcription by interacting with the corepressor Sin3A and HDAC1. Activates RANTES expression in T-cells; Belongs to the Sp1 C2H2-type zinc-finger protein family 9606.ENSP00000302476 HSPB2 182 Heat shock protein beta-2; May regulate the kinase DMPK; Small heat shock proteins 9606.ENSP00000302478 POLR1D 133 DNA-directed RNA polymerases I and III subunit RPAC2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively; Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family 9606.ENSP00000302485 CSDC2 153 Cold shock domain-containing protein C2; RNA-binding factor which binds specifically to the very 3'-UTR ends of both histone H1 and H3.3 mRNAs, encompassing the polyadenylation signal. Might play a central role in the negative regulation of histone variant synthesis in the developing brain (By similarity) 9606.ENSP00000302486 MAP2K1 393 Dual specificity mitogen-activated protein kinase kinase 1; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine resid [...] 9606.ENSP00000302530 BUB1 1085 Mitotic checkpoint serine/threonine-protein kinase BUB1; Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Required for centromeric enrichment of AUKRB in prometaphase. Plays an important role in defining SGO1 localization and thereby affects sister chromat [...] 9606.ENSP00000302537 MDM1 714 Nuclear protein MDM1; Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules 9606.ENSP00000302543 CXXC5 322 CXXC-type zinc finger protein 5; May indirectly participate in activation of the NF- kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediated modulation of canonical Wnt signaling activity in neural stem cells (By similarity). Required for DNA damage-induced ATM phosphorylation, p53 activation and cell cycle arrest. Involved in myelopoiesis. Transcription factor. Binds to the oxygen responsive element of COX4I2 and represses its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen). May repress COX4I2 transactivation induced by CHCHD2 and [...] 9606.ENSP00000302548 HOXD4 255 Homeobox protein Hox-D4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000302552 GLOD5 160 Glyoxalase domain containing 5; Belongs to the glyoxalase I family 9606.ENSP00000302562 HSPBAP1 488 HSPB1-associated protein 1; May play a role in cellular stress response 9606.ENSP00000302564 BCL2L1 233 Bcl-2-like protein 1; Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage- dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis; Belongs to the Bcl-2 family 9606.ENSP00000302569 CLEC7A 247 C-type lectin domain family 7 member A; Lectin that functions as pattern receptor specific for beta-1,3-linked and beta-1,6-linked glucans, such as cell wall constituents from pathogenic bacteria and fungi. Necessary for the TLR2-mediated inflammatory response and for TLR2-mediated activation of NF-kappa-B. Enhances cytokine production in macrophages and dendritic cells. Mediates production of reactive oxygen species in the cell. Mediates phagocytosis of C.albicans conidia. Binds T-cells in a way that does not involve their surface glycans and plays a role in T-cell activation. Stimula [...] 9606.ENSP00000302578 FAM84B 310 Protein FAM84B; Family with sequence similarity 84 member B; Belongs to the FAM84 family 9606.ENSP00000302579 SCEL 688 Sciellin; May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope 9606.ENSP00000302586 KBTBD2 623 Kelch repeat and BTB domain containing 2 9606.ENSP00000302599 FUT9 359 Alpha-(1,3)-fucosyltransferase 9; Transfers a fucose to lacto-N-neotetraose but not to either alpha2,3-sialyl lacto-N-neotetraose or lacto-N-tetraose. Can catalyze the last step in the biosynthesis of Lewis antigen, the addition of a fucose to precursor polysaccharides; Belongs to the glycosyltransferase 10 family 9606.ENSP00000302603 ZNF556 456 Zinc finger protein 556; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000302606 OR9I1 314 Olfactory receptor 9I1; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000302620 AGXT 392 Alanine-glyoxylate aminotransferase 9606.ENSP00000302621 LRG1 347 Leucine rich alpha-2-glycoprotein 1 9606.ENSP00000302625 AXIN2 843 Axin-2; Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta- catenin and APC by GSK3B (By similarity) 9606.ENSP00000302629 CHSY3 882 Chondroitin sulfate synthase 3; Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Specific activity is much reduced compared to CHSY1 9606.ENSP00000302630 ONECUT1 465 Hepatocyte nuclear factor 6; Transcriptional activator. Binds the consensus sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription; Belongs to the CUT homeobox family 9606.ENSP00000302640 UBTF 764 Nucleolar transcription factor 1; Recognizes the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element 9606.ENSP00000302647 RALGAPA1 2083 Ral GTPase-activating protein subunit alpha-1; Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB 9606.ENSP00000302648 NRTN 197 Neurturin; Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells; Belongs to the TGF-beta family. GDNF subfamily 9606.ENSP00000302657 ABHD15 468 Protein ABHD15; Abhydrolase domain containing 15 9606.ENSP00000302665 IGF1 195 Insulin-like growth factor I; The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblasts. Stimulates glucose transport in bone-derived osteoblastic (PyMS) cells and is effective at much lower concentrations than insulin, not only regarding glycogen and DNA synthesis but also with regard to enhancing glucose uptake. May play a role in synapse maturation. Ca(2+)-dependent exoc [...] 9606.ENSP00000302676 GPR22 433 Probable G-protein coupled receptor 22; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000302716 MUC17 4493 Mucin-17; Probably plays a role in maintaining homeostasis on mucosal surfaces; Mucins 9606.ENSP00000302719 KCNAB3 404 Voltage-gated potassium channel subunit beta-3; Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters the functional properties of Kv1.5; Aldo-keto reductases 9606.ENSP00000302724 INSL5 135 Insulin-like peptide INSL5; May have a role in gut contractility or in thymic development and regulation. Activates RXFP4 with high potency and appears to be the endogenous ligand for this receptor; Belongs to the insulin family 9606.ENSP00000302728 GUSB 651 Beta-glucuronidase; Plays an important role in the degradation of dermatan and keratan sulfates; Belongs to the glycosyl hydrolase 2 family 9606.ENSP00000302756 FOXD4L1 408 Forkhead box D4 like 1 9606.ENSP00000302768 PAIP1 479 Polyadenylate-binding protein-interacting protein 1; Acts as a coactivator in the regulation of translation initiation of poly(A)-containing mRNAs. Its stimulatory activity on translation is mediated via its action on PABPC1. Competes with PAIP2 for binding to PABPC1. Its association with EIF4A and PABPC1 may potentiate contacts between mRNA termini. May also be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of [...] 9606.ENSP00000302770 ZNF296 475 Zinc finger protein 296; May be a transcriptional corepressor with KLF4; Zinc fingers C2H2-type 9606.ENSP00000302783 TRAPPC1 145 Trafficking protein particle complex subunit 1; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. BET5 subfamily 9606.ENSP00000302790 XPO6 1125 Exportin-6; Mediates the nuclear export of actin and profilin-actin complexes in somatic cells; Exportins 9606.ENSP00000302801 TRMT61B 477 tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial; Methyltransferase that catalyzes the formation of N(1)- methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (deciphering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (deciphering codons UCA, UCU, UCG or UCC). Catalyzes the formation of 1- methyladenosine at position 947 of mitochondrial 16S ribosomal RNA and this modification is most likely important for mitoribosomal structure and function. In addition to tRNA N(1)-methyltransferase activity, also acts as a mRNA N(1)- methyltransferase by [...] 9606.ENSP00000302805 DDI1 396 Protein DDI1 homolog 1; Probable aspartic protease 9606.ENSP00000302811 MTNR1A 350 Melatonin receptor type 1A; High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000302814 OTP 325 Homeobox protein orthopedia; Probably involved in the differentiation of hypothalamic neuroendocrine cells; Belongs to the paired homeobox family. Bicoid subfamily 9606.ENSP00000302830 MAEA 396 Macrophage erythroblast attacher; Plays a role in erythroblast enucleation and in the development of the mature macrophages. Mediates the attachment of erythroid cell to mature macrophages, in correlation with the presence of MAEA at cell surface of mature macrophages; This MAEA- mediated contact inhibits erythroid cells apoptosis. Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages. May contribute to nuclear architecture and cells division eve [...] 9606.ENSP00000302833 GIMAP1 306 GTPase IMAP family member 1; May regulate lymphocyte survival. Required for normal levels of mature T-lymphocytes and mature B-cells (By similarity); GTPases, IMAP 9606.ENSP00000302836 HOXC9 260 Homeobox protein Hox-C9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family 9606.ENSP00000302843 DNAJC18 358 DnaJ heat shock protein family member C18 9606.ENSP00000302846 PTGER4 488 Prostaglandin E2 receptor EP4 subtype; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function 9606.ENSP00000302851 SLC23A1 602 Solute carrier family 23 member 1; Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate; Solute carriers 9606.ENSP00000302855 ZNF280A 542 Zinc finger protein 280A; May function as a transcription factor 9606.ENSP00000302863 OR1L3 324 Olfactory receptor 1L3; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000302867 OR7G3 312 Olfactory receptor 7G3; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000302886 PA2G4 394 Proliferation-associated protein 2G4; May play a role in a ERBB3-regulated signal transduction pathway. Seems be involved in growth regulation. Acts a corepressor of the androgen receptor (AR) and is regulated by the ERBB3 ligand neuregulin-1/heregulin (HRG). Inhibits transcription of some E2F1-regulated promoters, probably by recruiting histone acetylase (HAT) activity. Binds RNA. Associates with 28S, 18S and 5.8S mature rRNAs, several rRNA precursors and probably U3 small nucleolar RNA. May be involved in regulation of intermediate and late steps of rRNA processing. May be involved i [...] 9606.ENSP00000302895 ARAP2 1704 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency (By similarity); Ankyrin repeat domain containing 9606.ENSP00000302896 RPS9 194 Ribosomal protein S9 9606.ENSP00000302898 AURKC 309 Aurora kinase C; Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Plays also a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB, AURKC phosphorylates histone H3 at 'Ser-10' and 'Ser-28'. AURKC phosphoryla [...] 9606.ENSP00000302913 SH3D19 790 SH3 domain-containing protein 19; May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the regulation of cell morphology and cytoskeletal organization 9606.ENSP00000302918 C11orf40 217 Putative uncharacterized protein C11orf40; Chromosome 11 open reading frame 40 9606.ENSP00000302924 IL17D 202 Interleukin-17D; Induces expression of IL6, CXCL8/IL8, and CSF2/GM-CSF from endothelial cells; Interleukins 9606.ENSP00000302935 IL16 1332 Pro-interleukin-16; Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4; Interleukins 9606.ENSP00000302936 DYNLRB2 96 Dynein light chain roadblock-type 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules 9606.ENSP00000302938 WFDC13 93 WAP four-disulfide core domain protein 13; Putative acid-stable proteinase inhibitor; WAP four-disulfide core domain containing 9606.ENSP00000302961 HSPA4 840 Heat shock protein family A member 4; Belongs to the heat shock protein 70 family 9606.ENSP00000302967 HDAC3 428 Histone deacetylase 3; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 'Lys- 27' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activ [...] 9606.ENSP00000302978 SPRY3 288 Protein sprouty homolog 3; May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis; Pseudoautosomal region 2 9606.ENSP00000303015 ZRSR2 482 U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2; Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP- dependent manner and is required for assembly of the prespliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing 9606.ENSP00000303028 TM4SF20 229 Transmembrane 4 L6 family member 20; Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis. In response to ceramide, which alters TM4SF20 membrane topology, stimulates RIP activation of CREB3L1. Ceramide reverses the direction through which transmembrane helices are translocated into the endoplasmic reticulum membrane during translation of TM4SF20, this mechanism is called 'regulated alternative translocation' (RAT) and regulates the function of the transmembrane protein; Bel [...] 9606.ENSP00000303042 AFAP1L2 818 Actin filament-associated protein 1-like 2; May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation; Pleckstrin homology domain containing 9606.ENSP00000303057 PPIC 212 Peptidyl-prolyl cis-trans isomerase C; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000303058 CEP120 986 Centrosomal protein of 120 kDa; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity); Belongs to the CEP120 family 9606.ENSP00000303061 XAGE3 111 X antigen family member 3 9606.ENSP00000303070 SCGB1D1 90 Secretoglobin family 1D member 1; May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones; Secretoglobins 9606.ENSP00000303076 OR5B2 309 Olfactory receptor 5B2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000303077 GOT1L1 421 Putative aspartate aminotransferase, cytoplasmic 2; Glutamic-oxaloacetic transaminase 1 like 1 9606.ENSP00000303096 OR5A1 315 Olfactory receptor 5A1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000303111 OR5AP2 316 Olfactory receptor 5AP2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000303129 VAT1L 419 Synaptic vesicle membrane protein VAT-1 homolog-like; Vesicle amine transport 1 like; Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily 9606.ENSP00000303145 TMED10 219 Transmembrane emp24 domain-containing protein 10; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft [...] 9606.ENSP00000303147 MAT2A 395 S-adenosylmethionine synthase isoform type-2; Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate; Belongs to the AdoMet synthase family 9606.ENSP00000303148 TMEM37 190 Voltage-dependent calcium channel gamma-like subunit; Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity) 9606.ENSP00000303149 GPR27 375 Probable G-protein coupled receptor 27; Orphan receptor. Possible candidate for amine-like G- protein coupled receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000303151 OR1B1 318 Olfactory receptor 1B1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000303153 COL22A1 1626 Collagen alpha-1(XXII) chain; Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family 9606.ENSP00000303158 CCDC8 538 Coiled-coil domain-containing protein 8; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Required for localization of CUL7 to the centrosome; Protein phosphatase 1 regulatory subunits 9606.ENSP00000303174 UGT1A6 532 UDP-glucuronosyltransferase 1-6; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family 9606.ENSP00000303192 RGL1 803 Ral guanine nucleotide dissociation stimulator-like 1; Probable guanine nucleotide exchange factor 9606.ENSP00000303206 REG1B 166 Lithostathine-1-beta; Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration; C-type lectin domain containing 9606.ENSP00000303208 PCSK9 692 Proprotein convertase subtilisin/kexin type 9; Crucial player in the regulation of plasma cholesterol homeostasis. Binds to low-density lipid receptor family members: low density lipoprotein receptor (LDLR), very low density lipoprotein receptor (VLDLR), apolipoprotein E receptor (LRP1/APOER) and apolipoprotein receptor 2 (LRP8/APOER2), and promotes their degradation in intracellular acidic compartments. Acts via a non-proteolytic mechanism to enhance the degradation of the hepatic LDLR through a clathrin LDLRAP1/ARH-mediated pathway. May prevent the recycling of LDLR from endosomes to [...] 9606.ENSP00000303211 ACHE 617 Acetylcholinesterase; Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis; Belongs to the type-B carboxylesterase/lipase family 9606.ENSP00000303212 SEMA3E 775 Semaphorin-3E; Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down- regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity); Immunoglobulin like domain containing 9606.ENSP00000303222 MTCH2 303 Mitochondrial carrier homolog 2; The substrate transported is not yet known. Induces mitochondrial depolarization; Solute carriers 9606.ENSP00000303231 IL12A 253 Interleukin-12 subunit alpha; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine- activated Killer cells, and stimulate the production of IFN-gamma by resting PBMC; Interleukins 9606.ENSP00000303234 C14orf183 324 Putative uncharacterized protein encoded by LINC01599; Chromosome 14 open reading frame 183 9606.ENSP00000303246 ACOT12 555 Acyl-coenzyme A thioesterase 12; Hydrolyzes acetyl-CoA to acetate and CoA; Acyl-CoA thioesterases 9606.ENSP00000303252 ZNF804A 1209 Zinc finger protein 804A 9606.ENSP00000303276 RNASE2 161 Non-secretory ribonuclease; This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities 9606.ENSP00000303315 JUNB 347 Transcription factor jun-B; Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5'-TGA[CG]TCA-3'; Belongs to the bZIP family. Jun subfamily 9606.ENSP00000303325 TACR3 465 Neuromedin-K receptor; This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: neuromedin-K > substance K > substance P 9606.ENSP00000303356 DCXR 244 L-xylulose reductase; Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L- xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000303366 LMAN2 356 Vesicular integral-membrane protein VIP36; Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high-mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans (By similarity) 9606.ENSP00000303373 HIST1H2AE 130 Histone cluster 1 H2A family member e; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000303394 HSPB3 150 Heat shock protein beta-3; Inhibitor of actin polymerization; Small heat shock proteins 9606.ENSP00000303398 MTBP 904 Mdm2-binding protein; Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells (By similarity). May play a role in MDM2-dependent p53/TP53 homeostasis in unstressed cells. Inhibits autoubiquitination of MDM2, thereby enhancing MDM2 stability. This promotes MDM2-mediated ubiquitination of p53/TP53 and its subsequent degradation 9606.ENSP00000303423 FNTA 379 Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha; Essential subunit of both the farnesyltransferase and the geranylgeranyltransferase complex. Contributes to the transfer of a farnesyl or geranylgeranyl moiety from farnesyl or geranylgeranyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. May positively regulate neuromuscular junction development downstream of MUSK via its function in RAC1 prenylation and activation 9606.ENSP00000303424 PTGDR 359 Prostaglandin D2 receptor; Receptor for prostaglandin D2 (PGD2). The activity of this receptor is mainly mediated by G(s) proteins that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP. A mobilization of calcium is also observed, but without formation of inositol 1,4,5-trisphosphate (By similarity) 9606.ENSP00000303427 PDS5A 1337 Sister chromatid cohesion protein PDS5 homolog A; Probable regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair; Belongs to the PDS5 family 9606.ENSP00000303434 USP38 1042 Ubiquitin carboxyl-terminal hydrolase 38; Deubiquitinating enzyme exhibiting a preference towards 'Lys-63'-linked ubiquitin chains; Belongs to the peptidase C19 family 9606.ENSP00000303437 TSNARE1 514 t-SNARE domain containing 1 9606.ENSP00000303452 TRH 242 Pro-thyrotropin-releasing hormone; Functions as a regulator of the biosynthesis of TSH in the anterior pituitary gland and as a neurotransmitter/ neuromodulator in the central and peripheral nervous systems. May promote hair shaft elongation, prolonge the hair cycle growth phase (anagen) and antagonized its termination by TGFB2. May also increase proliferation and inhibited apoptosis of hair matrix keratinocytes; Endogenous ligands 9606.ENSP00000303468 ZCCHC4 513 Zinc finger CCHC domain-containing protein 4; May be a methyltransferase; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000303469 OR52A5 316 Olfactory receptor 52A5; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000303482 REEP4 257 Receptor expression-enhancing protein 4; Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes; Belongs to the DP1 family 9606.ENSP00000303490 C5orf34 638 Uncharacterized protein C5orf34; Chromosome 5 open reading frame 34 9606.ENSP00000303507 BCR 1271 Breakpoint cluster region protein; GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. Displays serine/threonine kinase activity; C2 domain containing 9606.ENSP00000303508 FRMD3 597 FERM domain-containing protein 3; Putative tumor suppressor gene that may be implicated in the origin and progression of lung cancer; FERM domain containing 9606.ENSP00000303511 PEX6 980 Peroxisome assembly factor 2; Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes 9606.ENSP00000303522 TACR1 407 Substance-P receptor; This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance P > substance K > neuromedin-K 9606.ENSP00000303525 CBR4 237 Carbonyl reductase family member 4; The heterotetramer with HSD17B8 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis. Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD. The homotetramer has NADPH-dependent quinone reductase activity. Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10- phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro); Short chain dehydrogenase/reductase superfamily 9606.ENSP00000303532 DEFB4A 64 Defensin, beta 4A; Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells; Defensins, beta 9606.ENSP00000303533 ZNF138 319 Zinc finger protein 138; May be involved in transcriptional regulation as a repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000303540 SCN1A 2009 Sodium channel protein type 1 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammatio [...] 9606.ENSP00000303549 GPR82 336 Probable G-protein coupled receptor 82; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000303550 CYTL1 136 Cytokine-like protein 1; Cytokine like 1 9606.ENSP00000303570 ANKMY2 441 Ankyrin repeat and MYND domain-containing protein 2; May be involved in the trafficking of signaling proteins to the cilia; Ankyrin repeat domain containing 9606.ENSP00000303575 NUDT9 350 ADP-ribose pyrophosphatase, mitochondrial; Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5'- phosphate; Nudix hydrolase family 9606.ENSP00000303580 NKIRAS2 191 NF-kappa-B inhibitor-interacting Ras-like protein 2; Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and nuclear localization of p65/RELA NF- kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB (By similarity); Belongs to the small GTPase superfamily. Ras family. KappaB-Ras subfamily 9606.ENSP00000303584 N6AMT1 214 HemK methyltransferase family member 2; Heterodimeric methyltransferase that catalyzes N5- methylation of ETF1 on 'Gln-185', using S-adenosyl L-methionine as methyl donor. ETF1 needs to be complexed to ERF3 in its GTP-bound form to be efficiently methylated. May play a role in the modulation of arsenic-induced toxicity. May be involved in the conversion of monomethylarsonous acid (3+) into the less toxic dimethylarsonic acid; Belongs to the eukaryotic/archaeal PrmC-related family 9606.ENSP00000303634 LRP8 963 Low-density lipoprotein receptor-related protein 8; Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands. LRP8 participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to DAB1 on its cytoplasmic tail. Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine phosphorylation and microtubule function in neurons. LRP8 has higher affinity for Reelin than VLDLR. LRP8 is thus a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brai [...] 9606.ENSP00000303686 NTSR2 410 Neurotensin receptor type 2; Receptor for the tridecapeptide neurotensin. It is associated with G proteins that activate a phosphatidylinositol- calcium second messenger system 9606.ENSP00000303696 ZNF57 555 Zinc finger protein 57; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000303706 CDC25A 524 M-phase inducer phosphatase 1; Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Directly dephosphorylates CDK1 and stimulates its kinase activity. Also dephosphorylates CDK2 in complex with cyclin E, in vitro; Class III Cys-based CDC25 phosphatases 9606.ENSP00000303709 UBE2E1 193 Ubiquitin-conjugating enzyme E2 E1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes the covalent attachment of ISG15 to other proteins. Mediates the selective degradation of short-lived and abnormal proteins. In vitro also catalyzes 'Lys-48'-linked polyubiquitination; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000303754 PPID 370 Peptidyl-prolyl cis-trans isomerase D; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Proposed to act as a co-chaperone in HSP90 complexes such as in unligated steroid receptors heterocomplexes. Different co-chaperones seem to compete for association with HSP90 thus establishing distinct HSP90-co-chaperone-receptor complexes with the potential to exert tissue-specific receptor activity control. May have a preference for estrogen receptor complexes and is not found in glucocorticoid receptor complexe [...] 9606.ENSP00000303758 LUZP1 1076 Leucine zipper protein 1 9606.ENSP00000303766 HTRA3 453 Serine protease HTRA3; Serine protease that cleaves beta-casein/CSN2 as well as several extracellular matrix (ECM) proteoglycans such as decorin/DCN, biglycan/BGN and fibronectin/FN1. Inhibits signaling mediated by TGF-beta family proteins possibly indirectly by degradation of these ECM proteoglycans (By similarity). May act as a tumor suppressor. Negatively regulates, in vitro, trophoblast invasion during placental development and may be involved in the development of the placenta in vivo. May also have a role in ovarian development, granulosa cell differentiation and luteinization; B [...] 9606.ENSP00000303769 AKNA 1439 AT-hook-containing transcription factor; Transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development. Binds to A/T-rich promoters 9606.ENSP00000303775 PROKR1 393 Prokineticin receptor 1; Receptor for prokineticin 1. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. May play a role during early pregnancy 9606.ENSP00000303777 TEX13B 312 Testis-expressed protein 13B; Testis expressed 13B; Belongs to the TEX13 family 9606.ENSP00000303822 OR7G2 345 Olfactory receptor 7G2; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000303830 INSR 1382 Insulin receptor; Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src- homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the acti [...] 9606.ENSP00000303834 OR5A2 324 Olfactory receptor 5A2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000303862 OR10A2 303 Olfactory receptor 10A2; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000303864 OR8I2 310 Olfactory receptor 8I2; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000303887 DCLK2 783 Serine/threonine-protein kinase DCLK2; Protein kinase with a significantly reduced C(a2+)/CAM affinity and dependence compared to other members of the CaMK family. May play a role in the down-regulation of CRE-dependent gene activation probably by phosphorylation of the CREB coactivator CRTC2/TORC2 and the resulting retention of TORC2 in the cytoplasm (By similarity); Doublecortin superfamily 9606.ENSP00000303908 TWF2 349 Twinfilin-2; Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia (By similarity); Belongs to the actin-binding proteins ADF family. Twinfilin subfamily 9606.ENSP00000303909 ABR 859 Active breakpoint cluster region-related protein; GTPase-activating protein for RAC and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them; C2 domain containing 9606.ENSP00000303915 ZNF561 486 Zinc finger protein 561; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000303920 MZB1 189 Marginal zone B- and B1-cell-specific protein; Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation 9606.ENSP00000303928 KIAA0232 1395 Uncharacterized protein KIAA0232; KIAA0232 9606.ENSP00000303939 CTLA4 223 Cytotoxic T-lymphocyte protein 4; Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28 9606.ENSP00000303942 GP9 177 Platelet glycoprotein IX; The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis. GP-IX may provide for membrane insertion and orientation of GP-Ib; CD molecules 9606.ENSP00000303960 ABCC8 1582 ATP-binding cassette sub-family C member 8; Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release; ATP binding cassette subfamily C 9606.ENSP00000303963 CTRB2 263 Chymotrypsinogen B2; Belongs to the peptidase S1 family 9606.ENSP00000303987 TMEM223 202 Transmembrane protein 223 9606.ENSP00000303992 TMEM43 400 Transmembrane protein 43; May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity) 9606.ENSP00000303997 GTPBP2 602 GTP binding protein 2; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily 9606.ENSP00000303999 TMEM133 129 Transmembrane protein 133 9606.ENSP00000304004 FOXA3 350 Hepatocyte nuclear factor 3-gamma; Transcription factor that is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites (By similarity). Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC prom [...] 9606.ENSP00000304032 STARD5 213 StAR-related lipid transfer protein 5; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity); StAR related lipid transfer domain containing 9606.ENSP00000304051 RNF139 664 E3 ubiquitin-protein ligase RNF139; E3-ubiquitin ligase; acts as a negative regulator of the cell proliferation through mechanisms involving G2/M arrest and cell death. Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER). Affects SREBP processing by hindering the SREBP/SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression. Required for INSIG1 ubiquitination. May be required for EIF3 complex ubiquitination. May function as a signaling receptor; Rin [...] 9606.ENSP00000304060 OR8J1 316 Olfactory receptor 8J1; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000304065 C2orf27B 209 Chromosome 2 open reading frame 27B 9606.ENSP00000304071 C7orf33 177 Uncharacterized protein C7orf33; Chromosome 7 open reading frame 33 9606.ENSP00000304077 OR4K15 348 Olfactory receptor 4K15; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000304078 FAM83B 1011 Protein FAM83B; Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades 9606.ENSP00000304102 COPS6 327 COP9 signalosome complex subunit 6; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD kinases. CSN-depende [...] 9606.ENSP00000304108 FAM171B 826 Protein FAM171B; Family with sequence similarity 171 member B; Belongs to the FAM171 family 9606.ENSP00000304127 KCNG3 436 Potassium voltage-gated channel subfamily G member 3; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; this promotes a reduction in the rate of activation and inactivation of the delayed rectifier voltage-gated potassium channel KCNB1; Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.3/KCNG3 sub-subfamily 9606.ENSP00000304133 SCG2 617 Secretogranin-2; Secretogranin-2 is a neuroendocrine secretory granule protein, which is the precursor for biologically active peptides; Granins 9606.ENSP00000304139 RBMXL2 392 RNA binding motif protein, X-linked like 2 9606.ENSP00000304147 MYEOV2 252 Myeloma overexpressed 2 9606.ENSP00000304169 PITX2 324 Pituitary homeobox 2; Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity); Belongs to the paired homeobox family. Bicoid subfamily 9606.ENSP00000304188 OR8U1 309 Olfactory receptor 8U1; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000304192 PCNX 2341 Pecanex-like protein 1; Pecanex homolog (Drosophila); Belongs to the pecanex family 9606.ENSP00000304226 HIPK3 1215 Homeodomain-interacting protein kinase 3; Serine/threonine-protein kinase involved in transcription regulation, apoptosis and steroidogenic gene expression. Phosphorylates JUN and RUNX2. Seems to negatively regulate apoptosis by promoting FADD phosphorylation. Enhances androgen receptor-mediated transcription. May act as a transcriptional corepressor for NK homeodomain transcription factors. The phosphorylation of NR5A1 activates SF1 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. In osteoblasts, supports transcription activation: phosphoryla [...] 9606.ENSP00000304229 HINT1 126 Histidine triad nucleotide-binding protein 1; Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine 5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His- AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine 5'-O-phosphorothioate and guan [...] 9606.ENSP00000304234 PCDHA10 948 Protocadherin alpha-10; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000304235 OR1L6 311 Olfactory receptor 1L6; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000304236 CD14 375 Monocyte differentiation antigen CD14; Coreceptor for bacterial lipopolysaccharide. In concert with LBP, binds to monomeric lipopolysaccharide and delivers it to the LY96/TLR4 complex, thereby mediating the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MyD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Acts as a coreceptor for TLR2:TLR6 heterodimer in response to diacylated lipopeptides and for TLR2:TLR1 heterodimer in response to triacylated lipopeptides, these clusters trigger signaling from the cell su [...] 9606.ENSP00000304250 CDK5R2 367 Cyclin-dependent kinase 5 activator 2; Activator of CDK5/TPKII 9606.ENSP00000304268 ZNF33A 829 Zinc finger protein 33A; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000304277 TM4SF1 202 Transmembrane 4 L six family member 1 9606.ENSP00000304283 RAC3 192 Ras-related C3 botulinum toxin substrate 3; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as cell spreading and the formation of actin-based protusions including lamellipodia and membrane ruffles. Promotes cell adhesion and spreading on fibrinogen in a CIB1 and alpha-IIb/beta3 integrin-mediated manner; Endogenous ligands 9606.ENSP00000304286 FOXI1 378 Forkhead box protein I1; Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity); Forkhead boxes 9606.ENSP00000304290 CHRNB1 501 Acetylcholine receptor subunit beta; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 1/CHRNB1 sub-subfamily 9606.ENSP00000304292 ANKRD27 1050 Ankyrin repeat domain-containing protein 27; May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics. May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the fun [...] 9606.ENSP00000304327 COPRS 184 Coordinator of PRMT5 and differentiation stimulator; Histone-binding protein required for histone H4 methyltransferase activity of PRMT5. Specifically required for histone H4 'Arg-3' methylation mediated by PRMT5, but not histone H3 'Arg-8' methylation, suggesting that it modulates the substrate specificity of PRMT5. Specifically interacts with the N-terminus of histone H4 but not with histone H3, suggesting that it acts by promoting the association between histone H4 and PRMT5. Involved in CCNE1 promoter repression. Plays a role in muscle cell differentiation by modulating the recruit [...] 9606.ENSP00000304331 GSX1 264 GS homeobox 1; Probable transcription factor that binds to the DNA sequence 5'-GC[TA][AC]ATTA[GA]-3'. Activates the transcription of the GHRH gene. Plays an important role in pituitary development; HOXL subclass homeoboxes 9606.ENSP00000304336 PYDC1 89 Pyrin domain-containing protein 1; Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro-caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS; Pyrin domain containing 9606.ENSP00000304353 POP7 140 Ribonuclease P protein subunit p20; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP complex, which cleaves pre-rRNA sequences 9606.ENSP00000304355 CCDC126 140 Coiled-coil domain containing 126 9606.ENSP00000304360 SMYD4 804 SET and MYND domain containing 4; Belongs to the class V-like SAM-binding methyltransferase superfamily 9606.ENSP00000304364 C1GALT1C1 318 C1GALT1-specific chaperone 1; Probable chaperone required for the generation of 1 O- glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1) 9606.ENSP00000304376 RAB24 203 Ras-related protein Rab-24; May be involved in autophagy-related processes; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000304408 COL3A1 1466 Collagen alpha-1(III) chain; Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12 9606.ENSP00000304410 C2orf68 166 UPF0561 protein C2orf68; Chromosome 2 open reading frame 68 9606.ENSP00000304419 OR2B2 357 Olfactory receptor 2B2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000304422 KREMEN2 462 Kremen protein 2; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation 9606.ENSP00000304429 SNX7 451 Sorting nexin-7; May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family 9606.ENSP00000304437 KNDC1 1749 Protein very KIND; RAS-Guanine nucleotide exchange factor (GEF) that controls the negative regulation of neuronal dendrite growth by mediating a signaling pathway linking RAS and MAP2 (By similarity). May be involved in cellular senescence 9606.ENSP00000304440 HAS3 553 Hyaluronan synthase 3; Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction (By similarity); Glycosyltransferase family 2 9606.ENSP00000304467 THOP1 689 Thimet oligopeptidase; Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation. Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments; M3 metallopeptidases 9606.ENSP00000304501 ADORA2B 332 Adenosine receptor A2b; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase 9606.ENSP00000304502 SIX2 291 Homeobox protein SIX2; Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing transcription of differentiation genes in cap mesenchyme such as WNT4. Al [...] 9606.ENSP00000304553 MPLKIP 179 M-phase-specific PLK1-interacting protein; May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis 9606.ENSP00000304586 ANKS3 656 Ankyrin repeat and sterile alpha motif domain containing 3 9606.ENSP00000304592 FASN 2511 Fatty acid synthase; Fatty acid synthetase catalyzes the formation of long- chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities and an acyl carrier protein; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000304593 ZNHIT1 154 Zinc finger HIT domain-containing protein 1; Seems to play a role in p53-mediated apoptosis induction. Binds to NR1D2 and relieves it of its inhibitory effect on the transcription of APOC3 without affecting its DNA-binding activity; Belongs to the ZNHIT1 family 9606.ENSP00000304604 MAGI3 1481 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3; Acts as a scaffolding protein at cell-cell junctions, thereby regulating various cellular and signaling processes. Cooperates with PTEN to modulate the kinase activity of AKT1. Its interaction with PTPRB and tyrosine phosphorylated proteins suggests that it may link receptor tyrosine phosphatase with its substrates at the plasma membrane. In polarized epithelial cells, involved in efficient trafficking of TGFA to the cell surface. Regulates the ability of LPAR2 to activate ERK and RhoA pathways. Regulates the [...] 9606.ENSP00000304642 FAM134B 497 Reticulophagy regulator 1; Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes. Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins. Required for long-term survival of nociceptive and autonomic ganglion neurons 9606.ENSP00000304643 CALML6 181 Calmodulin-like protein 6; EF-hand domain containing; Belongs to the calmodulin family. Calglandulin subfamily 9606.ENSP00000304669 CTNNA1 906 Catenin alpha-1; Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and [...] 9606.ENSP00000304670 RNFT1 435 E3 ubiquitin-protein ligase RNFT1; E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome- mediated degradation. Protects cells from ER stress-induced apoptosis; Ring finger proteins 9606.ENSP00000304676 ATOH8 321 Protein atonal homolog 8; Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element, possibly as a heterodimer with other bHLH proteins. Regulates endothelial cell proliferation, migration and tube-like structures formation. Modulates endothelial cell differentiation through NOS3. May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic devel [...] 9606.ENSP00000304689 THAP11 314 THAP domain-containing protein 11; Transcriptional repressor that plays a central role for embryogenesis and the pluripotency of embryonic stem (ES) cells. Sequence-specific DNA-binding factor that represses gene expression in pluripotent ES cells by directly binding to key genetic loci and recruiting epigenetic modifiers (By similarity); THAP domain containing 9606.ENSP00000304697 UBB 229 Polyubiquitin-B; Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; [...] 9606.ENSP00000304713 MSANTD4 345 Myb/SANT-like DNA-binding domain-containing protein 4; Myb/SANT DNA binding domain containing 4 with coiled-coils 9606.ENSP00000304762 SPACA5B 159 Sperm acrosome associated 5B; Lysozymes, c-type 9606.ENSP00000304767 P2RY1 373 P2Y purinoceptor 1; Receptor for extracellular adenine nucleotides such as ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000304769 ZNF467 595 Zinc finger protein 467; Transcription factor that promotes adipocyte differentiation and suppresses osteoblast differentiation in the bone marrow. Enhances the osteoclast-supporting ability of stromal cells. Binds with STAT3 the consensus sequence 5'-CTTCTGGGAAGA-3' of the acute phase response element (APRE). Transactivates several promoters including FOS, OSM and PPARG. Recruits a histone deacetylase complex (By similarity); Zinc fingers C2H2-type 9606.ENSP00000304782 CES3 571 Carboxylesterase 3; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)- 1-piperidino]-carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics; Carboxylesterases 9606.ENSP00000304783 SLC26A5 744 Prestin; Motor protein that converts auditory stimuli to length changes in outer hair cells and mediates sound amplification in the mammalian hearing organ. Prestin is a bidirectional voltage- to-force converter, it can operate at microsecond rates. It uses cytoplasmic anions as extrinsic voltage sensors, probably chloride and bicarbonate. After binding to a site with millimolar affinity, these anions are translocated across the membrane in response to changes in the transmembrane voltage. They move towards the extracellular surface following hyperpolarization, and towards the cytoplas [...] 9606.ENSP00000304802 DTYMK 212 Thymidylate kinase; Catalyzes the conversion of dTMP to dTDP; Belongs to the thymidylate kinase family 9606.ENSP00000304807 OR6Y1 325 Olfactory receptor 6Y1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000304811 UGT2B7 529 UDP-glucuronosyltransferase 2B7; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000304822 CSN3 182 Kappa-casein; Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk; Belongs to the kappa-casein family 9606.ENSP00000304845 UGT1A8 533 UDP-glucuronosyltransferase 1-1; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX- alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4- methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1; Belongs to the UDP-gly [...] 9606.ENSP00000304846 OR2AT4 320 Olfactory receptor 2AT4; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000304854 NUDCD2 157 NudC domain-containing protein 2; May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone; NudC family 9606.ENSP00000304891 ATP6V1E2 226 V-type proton ATPase subunit E 2; Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity) 9606.ENSP00000304895 IRS1 1242 Insulin receptor substrate 1; May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity) 9606.ENSP00000304903 CD2BP2 341 CD2 antigen cytoplasmic tail-binding protein 2; Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly; Protein phosphatase 1 regulatory subunits 9606.ENSP00000304908 TXNDC2 553 Thioredoxin domain-containing protein 2; Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase 9606.ENSP00000304915 IL13 146 Interleukin-13; Cytokine. Inhibits inflammatory cytokine production. Synergizes with IL2 in regulating interferon-gamma synthesis. May be critical in regulating inflammatory and immune responses. Positively regulates IL31RA expression in macrophages (By similarity); Interleukins 9606.ENSP00000304923 LRRC28 367 Leucine-rich repeat-containing protein 28; Leucine rich repeat containing 28 9606.ENSP00000304926 C8orf22 84 Pancreatic progenitor cell differentiation and proliferation factor-like protein; Chromosome 8 open reading frame 22 9606.ENSP00000304930 SOSTDC1 206 Sclerostin domain-containing protein 1; May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling (By similarity). Directly antagonizes activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner; DAN family 9606.ENSP00000304941 TCTN2 697 Tectonic-2; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity) 9606.ENSP00000304945 ROBO4 1007 Roundabout homolog 4; Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity); Belongs to the immunoglobulin superfamily. ROBO family 9606.ENSP00000304956 MN1 1320 Transcriptional activator MN1; Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable) 9606.ENSP00000304987 BFSP2 415 Phakinin; Involved in stabilization of lens fiber cell cytoskeleton; Belongs to the intermediate filament family 9606.ENSP00000305005 PSG8 426 Pregnancy specific beta-1-glycoprotein 8 9606.ENSP00000305011 OR4K14 310 Olfactory receptor 4K14; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000305055 OR2K2 316 Olfactory receptor 2K2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000305069 TMEM192 271 Transmembrane protein 192 9606.ENSP00000305071 RFXANK 260 DNA-binding protein RFXANK; Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. May also potentiate the activation of RAF1 (By similarity); Ankyrin repeat domain containing 9606.ENSP00000305077 ZNF439 499 Zinc finger protein 439; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000305107 GIMAP8 665 GTPase IMAP family member 8; Exerts an anti-apoptotic effect in the immune system and is involved in responses to infections; GTPases, IMAP 9606.ENSP00000305133 SOCS5 536 Suppressor of cytokine signaling 5; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits for instance EGF signaling by mediating the degradation of the EGF receptor/EGFR. Involved in the regulation of T-helper cell differentiation by inhibiting of the IL4 signaling pathway which promotes differ [...] 9606.ENSP00000305138 FAM195A 160 MAPK regulated corepressor interacting protein 2; Family with sequence similarity 195, member A 9606.ENSP00000305151 PWWP2A 755 PWWP domain-containing protein 2A; H2A.Z-specific chromatin binding protein which may play an important role in the neural crest stem cell migration and differentiation during early development. Also required for proper mitosis progression; PWWP domain containing 9606.ENSP00000305161 TRIM56 755 E3 ubiquitin-protein ligase TRIM56; E3 ubiquitin-protein ligase that plays a key role in innate antiviral immunity. In response to pathogen- and host-derived double-stranded DNA (dsDNA), targets TMEM173/STING to 'Lys-63'-linked ubiquitination, thereby promoting its homodimerization, a step required for the production of type I interferon IFN-beta (By similarity). Independently of its E3 ubiquitin ligase activity, positive regulator of TLR3 signaling. Potentiates extracellular double stranded RNA (dsRNA)-induced expression of IFNB1 and interferon-stimulated genes ISG15, IFIT1/ISG56, CXC [...] 9606.ENSP00000305193 HS1BP3 392 HCLS1-binding protein 3; May be a modulator of IL-2 signaling 9606.ENSP00000305204 CKAP2L 745 Cytoskeleton-associated protein 2-like; Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells 9606.ENSP00000305207 OR1A1 309 Olfactory receptor 1A1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000305221 UGT2B4 528 UDP-glucuronosyltransferase 2B4; UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme is active on polyhydroxylated estrogens (such as estriol, 4-hydroxyestrone and 2-hydroxyestriol) and xenobiotics (such as 4-methylumbelliferone, 1-naphthol, 4- nitrophenol, 2-aminophenol, 4-hydroxybiphenyl and menthol). It is capable of 6 alpha-hydroxyglucuronidation of hyodeoxycholic acid; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000305230 SRP9 86 Signal recognition particle 9 kDa protein; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding 9606.ENSP00000305244 IRX1 480 Iroquois-class homeodomain protein IRX-1; TALE class homeoboxes and pseudogenes 9606.ENSP00000305255 STX8 236 Syntaxin-8; Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER; Belongs to the syntaxin family 9606.ENSP00000305260 GNB2 340 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000305263 KRT28 464 Keratin, type I cytoskeletal 28; Essential for the proper assembly of types I and II keratin protein complexes and the formation of keratin intermediate filaments in the inner root sheath (irs) 9606.ENSP00000305288 NLGN2 835 Neuroligin-2; Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Mediates cell-cell interactions both in neurons and in other types of cells, such as Langerhans beta cells. Plays a role in synapse function and synaptic signal transmission, especially via gamma- aminobutyric acid receptors (GABA(A) receptors). Functions by recruiting and clustering synaptic proteins. Promotes clustering of postsynaptic GABRG2 and GPHN. Modulates signaling by inhibitory synapses, and thereby plays a role in controlling the ratio of sign [...] 9606.ENSP00000305302 SLC6A19 634 Sodium-dependent neutral amino acid transporter B(0)AT1; Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride- independent; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily 9606.ENSP00000305334 FSTL5 847 Follistatin-related protein 5; EF-hand domain containing 9606.ENSP00000305343 SOX14 240 Transcription factor SOX-14; Acts as a negative regulator of transcription; SRY-boxes 9606.ENSP00000305355 PRKCB 673 Protein kinase C beta type; Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen receptor-dependent transcription regulation, insulin signaling and endothelial cells proliferation. Plays a key role in B-cell activation by regulating BCR-induced NF-kappa-B activation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11/CARMA1 at 'Ser-559', 'Ser-64 [...] 9606.ENSP00000305372 ADRB2 413 Beta-2 adrenergic receptor; Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. The beta-2-adrenergic receptor binds epinephrine with an approximately 30-fold greater affinity than it does norepinephrine; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRB2 sub-subfamily 9606.ENSP00000305373 ZNF440 595 Zinc finger protein 440; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000305403 OR5T3 340 Olfactory receptor 5T3; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000305416 S1PR1 382 Sphingosine 1-phosphate receptor 1; G-protein coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signaling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganization of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1. Required for normal chemotaxis toward sphingosine 1-phosphate. Required for normal emb [...] 9606.ENSP00000305422 CEBPB 345 CCAAT/enhancer-binding protein beta; Important transcription factor regulating the expression of genes involved in immune and inflammatory responses. Plays also a significant role in adipogenesis, as well as in the gluconeogenic pathway, liver regeneration, and hematopoiesis. The consensus recognition site is 5'- T[TG]NNGNAA[TG]-3'. Its functional capacity is governed by protein interactions and post-translational protein modifications. During early embryogenesis, plays essential and redundant functions with CEBPA. Has a promitotic effect on many cell types such as hepatocytes and adip [...] 9606.ENSP00000305424 OR1F1 312 Olfactory receptor 1F1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000305426 TUB 561 Tubby protein homolog; Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages 9606.ENSP00000305442 COG7 770 Conserved oligomeric Golgi complex subunit 7; Required for normal Golgi function; Components of oligomeric golgi complex 9606.ENSP00000305449 CNNM3 707 Metal transporter CNNM3; Probable metal transporter; Belongs to the ACDP family 9606.ENSP00000305459 COG8 612 Conserved oligomeric Golgi complex subunit 8; Required for normal Golgi function; Components of oligomeric golgi complex 9606.ENSP00000305465 PDILT 584 Protein disulfide-isomerase-like protein of the testis; Probable redox-inactive chaperone involved in spermatogenesis; Belongs to the protein disulfide isomerase family 9606.ENSP00000305469 OR1S2 325 Olfactory receptor 1S2; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000305480 FEN1 380 Flap endonuclease 1; Structure-specific nuclease with 5'-flap endonuclease and 5'-3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site-terminated flap. Acts as a [...] 9606.ENSP00000305494 SPATA5L1 753 Spermatogenesis-associated protein 5-like protein 1; Spermatogenesis associated 5 like 1; Belongs to the AAA ATPase family. AFG2 subfamily 9606.ENSP00000305529 SIRPG 387 Signal-regulatory protein gamma; Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T- cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation; C1-set domain containing 9606.ENSP00000305533 THAP9 903 DNA transposase THAP9; Active transposase that specifically recognizes the bipartite 5'-TXXGGGX(A/T)-3' consensus motif and mediates transposition; THAP domain containing 9606.ENSP00000305556 PCBP1 356 Poly(rC)-binding protein 1; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. In case of infection by poliovirus, plays a role in initiation of viral RNA replication in concert with the viral protein 3CD 9606.ENSP00000305595 B3GNT2 397 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors. Probably constitutes the main polylactosamine synthase; Belongs to the glycosyltransferase 31 family 9606.ENSP00000305596 FAM71B 605 Protein FAM71B; May be involved in RNA biogenesis 9606.ENSP00000305603 FUT3 361 Galactoside 3(4)-L-fucosyltransferase; May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links 9606.ENSP00000305613 CPLX1 134 Complexin-1; Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse. Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior 9606.ENSP00000305631 NXNL1 212 Nucleoredoxin-like protein 1; May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods; Nucleoredoxin family 9606.ENSP00000305632 HOMER2 354 Homer protein homolog 2; Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Required for normal hearing; Deafness associated genes 9606.ENSP00000305640 OR6F1 308 Olfactory receptor 6F1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000305647 VAMP5 116 Vesicle-associated membrane protein 5; May participate in trafficking events that are associated with myogenesis, such as myoblast fusion and/or GLUT4 trafficking; Belongs to the synaptobrevin family 9606.ENSP00000305651 CXCL10 98 C-X-C motif chemokine 10; Chemotactic for monocytes and T-lymphocytes. Binds to CXCR3; Belongs to the intercrine alpha (chemokine CxC) family 9606.ENSP00000305653 LETM1 739 Mitochondrial proton/calcium exchanger protein; Mitochondrial proton/calcium antiporter that mediates proton-dependent calcium efflux from mitochondrion. Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain. Required for the maintenance of the tubular shape and cristae organization. In contrast to SLC8B1/NCLX, does not constitute the major factor for mitochondrial calcium extrusion; Belongs to the LETM1 family 9606.ENSP00000305654 TVP23B 205 Trans-golgi network vesicle protein 23 homolog B; Belongs to the TVP23 family 9606.ENSP00000305664 TRABD 376 TraB domain-containing protein; TraB domain containing 9606.ENSP00000305675 SDPR 425 Caveolae-associated protein 2; Plays an important role in caveolar biogenesis and morphology. Regulates caveolae morphology by inducing membrane curvature within caveolae. Plays a role in caveola formation in a tissue-specific manner. Required for the formation of caveolae in the lung and fat endothelia but not in the heart endothelia. Negatively regulates the size or stability of CAVIN complexes in the lung endothelial cells. May play a role in targeting PRKCA to caveolae (By similarity) 9606.ENSP00000305682 MRPL39 353 Mitochondrial ribosomal protein L39; Belongs to the mitochondrion-specific ribosomal protein mL39 family 9606.ENSP00000305692 GAA 952 Lysosomal alpha-glucosidase; Essential for the degradation of glycogen in lysosomes. Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans 9606.ENSP00000305696 RBFA 343 Putative ribosome-binding factor A, mitochondrial; Ribosome binding factor A 9606.ENSP00000305699 HOOK3 718 Protein Hook homolog 3; Probably serves as a target for the spiC protein from Salmonella typhimurium, which inactivates it, leading to a strong alteration in cellular trafficking (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). May regulate clearance of endocytosed receptors such as MSR1. Participates in defining the architecture and localization of the Golgi complex. Acts as an adapter protein linking the dynein motor c [...] 9606.ENSP00000305702 KCTD19 926 BTB/POZ domain-containing protein KCTD19; Potassium channel tetramerization domain containing 19 9606.ENSP00000305714 BMP1 986 Bone morphogenetic protein 1; Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX; Astacins 9606.ENSP00000305721 IBTK 1353 Inhibitor of Bruton tyrosine kinase; Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription; Ankyrin repeat domain containing 9606.ENSP00000305725 CHST11 352 Carbohydrate sulfotransferase 11; Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues in desulfated dermatan sulfate. Preferentially sulfates in GlcA->GalNAc unit than in IdoA->GalNAc unit. Does not form 4, 6- di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor; Belongs to the sulfotransferase 2 family 9606.ENSP00000305731 CST1 141 Cystatin-SN; Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well 9606.ENSP00000305742 LRTOMT 291 Transmembrane O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function. Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity); Belongs to the class I-like SAM-binding methyltransferase [...] 9606.ENSP00000305766 MRGPRX1 322 Mas-related G-protein coupled receptor member X1; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins including BAM22 (bovine adrenal medulla peptide 22) and BAM (8-22). BAM22 is the most potent compound and evoked a large and dose-dependent release of intracellular calcium in stably transfected cells. G(alpha)q proteins are involved in the calcium-signaling pathway. Activated by the antimalarial drug, chloroquine. May mediate chlo [...] 9606.ENSP00000305777 CSNK1G1 422 Casein kinase I isoform gamma-1; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN 9606.ENSP00000305790 SF3B3 1217 Splicing factor 3B subunit 3; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron 9606.ENSP00000305810 STX18 335 Syntaxin-18; Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER; Syntaxins 9606.ENSP00000305839 GPRIN1 1008 G protein-regulated inducer of neurite outgrowth 1; May be involved in neurite outgrowth 9606.ENSP00000305847 SPACA5 159 Sperm acrosome associated 5; Belongs to the glycosyl hydrolase 22 family 9606.ENSP00000305852 TM4SF4 202 Transmembrane 4 L6 family member 4; Regulates the adhesive and proliferative status of intestinal epithelial cells. Can mediate density-dependent cell proliferation 9606.ENSP00000305875 C20orf196 205 Uncharacterized protein C20orf196; Chromosome 20 open reading frame 196 9606.ENSP00000305877 NMUR1 426 Neuromedin-U receptor 1; Receptor for the neuromedin-U and neuromedin-S neuropeptides 9606.ENSP00000305892 TMEM208 173 Transmembrane protein 208; May function as a negative regulator of endoplasmic reticulum-stress induced autophagy 9606.ENSP00000305899 SUV420H1 885 Histone-lysine N-methyltransferase KMT5B; Histone methyltransferase that specifically trimethylates 'Lys-20' of histone H4. H4 'Lys-20' trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3 9606.ENSP00000305906 UTF1 341 Undifferentiated embryonic cell transcription factor 1; Acts as a transcriptional coactivator of ATF2 9606.ENSP00000305918 BRD3 726 Bromodomain-containing protein 3; Chromatin reader that recognizes and binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling and interaction with transcription factors. Regulates transcription by promoting the binding of the transcription factor GATA1 to its targets (By similarity); Bromodomain containing, BET 9606.ENSP00000305919 HTRA4 476 Serine protease HTRA4; Serine protease; PDZ domain containing 9606.ENSP00000305924 PPP4R4 873 Serine/threonine-protein phosphatase 4 regulatory subunit 4; Putative regulatory subunit of serine/threonine-protein phosphatase 4; Armadillo-like helical domain containing 9606.ENSP00000305926 OTUD7A 926 OTU domain-containing protein 7A; Has deubiquitinating activity towards 'Lys-11'-linked polyubiquitin chains; Belongs to the peptidase C64 family 9606.ENSP00000305941 USH2A 5202 Usherin; Involved in hearing and vision; Fibronectin type III domain containing 9606.ENSP00000305970 OR4D5 318 Olfactory receptor 4D5; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000305974 SLCO1A2 670 Solute carrier organic anion transporter family member 1A2; Mediates the Na(+)-independent transport of organic anions such as sulfobromophthalein (BSP) and conjugated (taurocholate) and unconjugated (cholate) bile acids (By similarity). Selectively inhibited by the grapefruit juice component naringin; Solute carriers 9606.ENSP00000305975 KRTAP1-1 177 Keratin-associated protein 1-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 1 family 9606.ENSP00000305976 SIK2 926 Serine/threonine-protein kinase SIK2; Phosphorylates 'Ser-794' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators 9606.ENSP00000305988 ALCAM 583 CD166 antigen; Cell adhesion molecule that mediates both heterotypic cell-cell contacts via its interaction with CD6, as well as homotypic cell-cell contacts. Promotes T-cell activation and proliferation via its interactions with CD6. Contributes to the formation and maturation of the immunological synapse via its interactions with CD6. Mediates homotypic interactions with cells that express ALCAM. Required for normal hematopoietic stem cell engraftment in the bone marrow. Mediates attachment of dendritic cells onto endothelial cells via homotypic interaction. Inhibits endothelial cell [...] 9606.ENSP00000305995 PGK2 417 Phosphoglycerate kinase 2; Essential for sperm motility and male fertility. Not required for the completion of spermatogenesis (By similarity); Belongs to the phosphoglycerate kinase family 9606.ENSP00000306003 ATP5I 69 ATP synthase subunit e, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the cent [...] 9606.ENSP00000306010 ARF4 180 ADP-ribosylation factor 4; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus; ARF GTPase family 9606.ENSP00000306015 SYNPO2 1261 Synaptopodin-2; Isoform 4: Can induce long, well-organized actin bundles frequently orientated in parallel along the long axis of the cell showing characteristics of contractile ventral stress fibers; Belongs to the synaptopodin family 9606.ENSP00000306070 NUDT6 316 Nucleoside diphosphate-linked moiety X motif 6; May contribute to the regulation of cell proliferation; Belongs to the Nudix hydrolase family 9606.ENSP00000306080 RNMTL1 420 rRNA methyltransferase 3, mitochondrial; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O- methylguanosine at position 1370 (Gm1370) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a conserved modification in the peptidyl transferase domain of the mtLSU rRNA 9606.ENSP00000306095 OR10H2 315 Olfactory receptor 10H2; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000306099 FGB 491 Fibrinogen beta chain; Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is [...] 9606.ENSP00000306100 PAM 974 Peptidyl-glycine alpha-amidating monooxygenase; Bifunctional enzyme that catalyzes 2 sequential steps in C-terminal alpha-amidation of peptides. The monooxygenase part produces an unstable peptidyl(2-hydroxyglycine) intermediate that is dismutated to glyoxylate and the corresponding desglycine peptide amide by the lyase part. C-terminal amidation of peptides such as neuropeptides is essential for full biological activity 9606.ENSP00000306105 CEP89 783 Centrosomal protein of 89 kDa; Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity 9606.ENSP00000306106 JAGN1 183 Protein jagunal homolog 1; Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contri [...] 9606.ENSP00000306117 DDX19A 478 ATP-dependent RNA helicase DDX19A; ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19 functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (By similarity); Belongs to the DEAD box helicase family. DDX19/DBP5 subfamily 9606.ENSP00000306123 RPAP1 1393 RNA polymerase II-associated protein 1; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Required for interaction of the RNA polymerase II complex with acetylated histone H3 9606.ENSP00000306124 PRKCE 737 Protein kinase C epsilon type; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signaling, by mediating angiotensin-2-induced activation of integrin beta-1 [...] 9606.ENSP00000306129 DRD5 477 D(1B) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000306138 GRM5 1212 Metabotropic glutamate receptor 5; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system and generates a calcium-activated chloride current. Plays an important role in the regulation of synaptic plasticity and the modulation of the neural network activity; Glutamate metabotropic receptors 9606.ENSP00000306157 IL7R 459 Interleukin-7 receptor subunit alpha; Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP); Belongs to the type I cytokine receptor family. Type 4 subfamily 9606.ENSP00000306163 ANKRD2 360 Ankyrin repeat domain-containing protein 2; Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress; Ankyrin repeat domain containing 9606.ENSP00000306185 ANTXR2 489 Anthrax toxin receptor 2; Necessary for cellular interactions with laminin and the extracellular matrix 9606.ENSP00000306190 SLAMF1 335 Signaling lymphocytic activation molecule; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. SLAMF1-induced signal- transduction events in T-lymphocytes are different from thos [...] 9606.ENSP00000306220 MMGT1 131 Membrane magnesium transporter 1; Mediates Mg(2+) transport; Belongs to the membrane magnesium transporter (TC 1.A.67) family 9606.ENSP00000306245 FOS 380 Proto-oncogene c-Fos; Nuclear phosphoprotein which forms a tight but non- covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD- binding site to regulate TGF-beta-mediated signaling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and different [...] 9606.ENSP00000306253 ITPR1 2743 Inositol 1,4,5-trisphosphate receptor type 1; Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity); Inositol 1,4,5-triphosphate receptors 9606.ENSP00000306261 KRT78 520 Keratin, type II cytoskeletal 78; Keratins, type II 9606.ENSP00000306275 KCNK3 394 Potassium channel subfamily K member 3; pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family 9606.ENSP00000306320 C14orf142 100 EKC/KEOPS complex subunit GON7; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. GON7 likely plays a supporting role to the catalytic subunit OSGEP in the complex 9606.ENSP00000306324 PWWP2B 590 PWWP domain containing 2B 9606.ENSP00000306328 SLC25A33 321 Solute carrier family 25 member 33; Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially uracil, thymine, and cytosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10- phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and [...] 9606.ENSP00000306330 YWHAG 247 14-3-3 protein gamma; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner; Belongs to the 14-3-3 family 9606.ENSP00000306335 RFX2 723 DNA-binding protein RFX2; Transcription factor that acts as a key regulator of spermatogenesis. Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (By similarity). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters. Probably activates transcription of the testis- specific histone gene HIST1H1T (By similarity) 9606.ENSP00000306344 TMEM135 458 Transmembrane protein 135; Involved in mitochondrial metabolism by regulating the balance between mitochondrial fusion and fission. May act as a regulator of mitochondrial fission that promotes DNM1L-dependent fission through activation of DNM1L. May be involved in peroxisome organization; Belongs to the TMEM135 family 9606.ENSP00000306361 FGA 866 Fibrinogen alpha chain; Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it i [...] 9606.ENSP00000306362 TBCA 129 Tubulin-specific chaperone A; Tubulin-folding protein; involved in the early step of the tubulin folding pathway 9606.ENSP00000306372 ZNF3 446 Zinc finger protein 3; Involved in cell differentiation and/or proliferation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000306390 PRSS27 290 Serine protease 27 9606.ENSP00000306396 RNF187 235 E3 ubiquitin-protein ligase RNF187; E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8; Ring finger proteins 9606.ENSP00000306397 UQCRFS1 274 Cytochrome b-c1 complex subunit Rieske, mitochondrial; Cytochrome b-c1 complex subunit Rieske, mitochondrial: Component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis. Incorporation of UQCRFS1 is the penultimate step in complex III assembly (By similarity) 9606.ENSP00000306410 ARMC4 1044 Armadillo repeat-containing protein 4; Ciliary protein that may be involved in a late step of axonemal outer dynein arm assembly; Armadillo repeat containing 9606.ENSP00000306425 CHCHD7 110 Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins; Belongs to the CHCHD7 family 9606.ENSP00000306449 GPR37 613 Prosaposin receptor GPR37; Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000306459 B4GALT6 382 Beta-1,4-galactosyltransferase 6; Required for the biosynthesis of glycosphingolipids; Beta 4-glycosyltransferases 9606.ENSP00000306461 SPRR1B 89 Cornifin-B; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. Can function as both amine donor and acceptor in transglutaminase-mediated cross- linkage; Belongs to the cornifin (SPRR) family 9606.ENSP00000306473 SHCBP1 672 SHC SH2 domain-binding protein 1; May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation. May be a component of a novel signaling pathway downstream of Shc. Acts as a positive regulator of FGF signaling in neural progenitor cells 9606.ENSP00000306490 CHRM1 460 Muscarinic acetylcholine receptor M1; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover; Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM1 sub-subfamily 9606.ENSP00000306496 RAB33B 229 Ras-related protein Rab-33B; Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation; RAB, member RAS oncogene GTPases 9606.ENSP00000306497 KCNJ4 445 Inward rectifier potassium channel 4; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity); Potassium voltage-gated channel subfamily J 9606.ENSP00000306512 CXCL8 99 Interleukin-8; IL-8 is a chemotactic factor that attracts neutrophils, basophils, and T-cells, but not monocytes. It is also involved in neutrophil activation. It is released from several cell types in response to an inflammatory stimulus. IL-8(6-77) has a 5-10-fold higher activity on neutrophil activation, IL-8(5-77) has increased activity on neutrophil activation and IL-8(7-77) has a higher affinity to receptors CXCR1 and CXCR2 as compared to IL-8(1-77), respectively; Chemokine ligands 9606.ENSP00000306522 CAMTA1 1673 Calmodulin-binding transcription activator 1; Transcriptional activator. May act as a tumor suppressor; Belongs to the CAMTA family 9606.ENSP00000306523 INSM2 566 Insulinoma-associated protein 2; May function as a growth suppressor or tumor suppressor in liver cells and in certain neurons; SNAG transcriptional repressors 9606.ENSP00000306528 DESI2 194 Desumoylating isopeptidase 2; Protease which may deconjugate SUMO from some substrate proteins; Desumoylating isopeptidases 9606.ENSP00000306548 MRPL13 178 Mitochondrial ribosomal protein L13; Belongs to the universal ribosomal protein uL13 family 9606.ENSP00000306561 OGG1 424 N-glycosylase/DNA lyase; DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N- methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta- lyase activity that nicks DNA 3' to the lesion; Belongs to the type-1 OGG1 family 9606.ENSP00000306564 TMEM42 159 Transmembrane protein 42 9606.ENSP00000306565 ISG20 181 Interferon-stimulated gene 20 kDa protein; Interferon-induced antiviral exoribonuclease that acts on single-stranded RNA and also has minor activity towards single- stranded DNA. Exhibits antiviral activity against RNA viruses including hepatitis C virus (HCV), hepatitis A virus (HAV) and yellow fever virus (YFV) in an exonuclease-dependent manner. May also play additional roles in the maturation of snRNAs and rRNAs, and in ribosome biogenesis; Exonucleases 9606.ENSP00000306606 ADH1B 375 Alcohol dehydrogenase 1B, beta polypeptide; Belongs to the zinc-containing alcohol dehydrogenase family 9606.ENSP00000306607 OR1L8 309 Olfactory receptor 1L8; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000306614 PPIH 177 Peptidyl-prolyl cis-trans isomerase H; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. May act as a chaperone; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000306625 ASPSCR1 647 Tether containing UBX domain for GLUT4; Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT; UBX domain containing 9606.ENSP00000306627 SLC9C1 1177 Sodium/hydrogen exchanger 10; Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity); Solute carriers 9606.ENSP00000306637 RGPD8 1765 RANBP2-like and GRIP domain-containing protein 8; Tetratricopeptide repeat domain containing 9606.ENSP00000306651 OR4C11 310 Olfactory receptor 4C11; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000306657 OR5B12 314 Olfactory receptor 5B12; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000306662 ADRA1B 520 Alpha-1B adrenergic receptor; This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine (PE)-stimulated ERK signaling in cardiac myocytes; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1B sub-subfamily 9606.ENSP00000306670 NUDT16L1 211 Tudor-interacting repair regulator protein; Key regulator of TP53BP1 required to stabilize TP53BP1 and regulate its recruitment to chromatin. In absence of DNA damage, interacts with the tandem Tudor-like domain of TP53BP1, masking the region that binds histone H4 dimethylated at 'Lys-20' (H4K20me2), thereby preventing TP53BP1 recruitment to chromatin and maintaining TP53BP1 localization to the nucleus. Following DNA damage, ATM-induced phosphorylation of TP53BP1 and subsequent recruitment of RIF1 leads to dissociate NUDT16L1/TIRR from TP53BP1, unmasking the tandem Tudor-like domain an [...] 9606.ENSP00000306678 ANKK1 765 Ankyrin repeat and kinase domain containing 1; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family 9606.ENSP00000306682 PPM1D 605 Protein phosphatase 1D; Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins. Mediates MAPK14 dephosphorylation and inactivation 9606.ENSP00000306688 OR2M4 311 Olfactory receptor 2M4; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000306752 BOLA2B 152 bolA family member 2B; Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins. Acts together with the monothiol glutaredoxin GLRX3; Belongs to the BolA/IbaG family 9606.ENSP00000306754 NEUROD2 382 Neurogenic differentiation factor 2; Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocort [...] 9606.ENSP00000306756 ZNF584 421 Zinc finger protein 584; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000306760 LRRC45 670 Leucine-rich repeat-containing protein 45; Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion 9606.ENSP00000306772 LDB2 373 LIM domain-binding protein 2; Binds to the LIM domain of a wide variety of LIM domain- containing transcription factors; Belongs to the LDB family 9606.ENSP00000306776 CCDC110 833 Coiled-coil domain containing 110 9606.ENSP00000306788 ARL6IP1 203 ADP-ribosylation factor-like protein 6-interacting protein 1; Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules. Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-depende [...] 9606.ENSP00000306817 RBKS 322 Ribokinase; Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5- phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway; Belongs to the carbohydrate kinase PfkB family. Ribokinase subfamily 9606.ENSP00000306822 AVEN 362 Cell death regulator Aven; Protects against apoptosis mediated by Apaf-1 9606.ENSP00000306844 SEMA4C 833 Semaphorin-4C; Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade; Belongs to the semaphorin family 9606.ENSP00000306864 VASN 673 Vasorin; May act as an inhibitor of TGF-beta signaling 9606.ENSP00000306866 GABARAP 117 Gamma-aminobutyric acid receptor-associated protein; Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in apoptosis. Involved in autophagy. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation; Belongs to the ATG8 family 9606.ENSP00000306869 ZNF565 499 Zinc finger protein 565; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000306881 SEC23A 765 Protein transport protein Sec23A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex; Belongs to the SEC23/SEC24 family. SEC23 subfamily 9606.ENSP00000306884 CXCL11 94 C-X-C motif chemokine 11; Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses; Belongs to the intercrine alpha (chemokine CxC) family 9606.ENSP00000306887 TMEM126A 195 Transmembrane protein 126A; Belongs to the TMEM126 family 9606.ENSP00000306888 FAM151A 585 Protein FAM151A; Family with sequence similarity 151 member A; Belongs to the FAM151 family 9606.ENSP00000306894 ETV5 510 ETS translocation variant 5; Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'; Belongs to the ETS family 9606.ENSP00000306900 PRND 176 Prion-like protein doppel; Required for normal acrosome reaction and for normal male fertility (By similarity). Can bind Cu(2+); Belongs to the prion family 9606.ENSP00000306906 RNF181 153 E3 ubiquitin-protein ligase RNF181; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates; Belongs to the RNF181 family 9606.ENSP00000306918 PCDHGC4 938 Protocadherin gamma-C4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000306920 GLB1 677 Beta-galactosidase; Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans; Belongs to the glycosyl hydrolase 35 family 9606.ENSP00000306968 CDCA7 450 Cell division cycle-associated protein 7; Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis. May play a role as transcriptional regulator 9606.ENSP00000306974 OR1N1 311 Olfactory receptor 1N1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000306983 YEATS2 1422 YEATS domain-containing protein 2; Chromatin reader component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. YEATS2 specifically recognizes and binds histone H3 crotonylated at 'Lys-27' (H3K27cr). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors 9606.ENSP00000306991 HAS2 552 Hyaluronan synthase 2; Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction and it is particularly responsible for the synthesis of high molecular mass hyaluronan. Required for the transition of endocardial cushion cells into mesenchymal cells, a process crucial for heart development. M [...] 9606.ENSP00000306997 MYOZ2 264 Myozenin-2; Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis 9606.ENSP00000306999 ESCO2 601 N-acetyltransferase ESCO2; Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 9606.ENSP00000307004 APLF 511 Aprataxin and PNK-like factor; Nuclease involved in single-strand and double-strand DNA break repair. Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions. Displays apurinic- apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage; Zinc fingers 9606.ENSP00000307014 KRT73 540 Keratin, type II cytoskeletal 73; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable) 9606.ENSP00000307023 KLF11 512 Krueppel-like factor 11; Transcription factor. Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth. Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity); Belongs to the Sp1 C2H2-type zinc-finger protein family 9606.ENSP00000307041 BNC1 994 Zinc finger protein basonuclin-1; Transcriptional activator (By similarity). Likely specific for squamous epithelium and for the constituent keratinocytes at a stage either prior to or at the very beginning of terminal differentiation. Required for the maintenance of spermatogenesis (By similarity). May also play a role in the differentiation of oocytes and the early development of embryos (By similarity); Zinc fingers C2H2-type 9606.ENSP00000307046 SDC2 201 Syndecan-2; Cell surface proteoglycan that bears heparan sulfate. Regulates dendritic arbor morphogenesis (By similarity); CD molecules 9606.ENSP00000307078 KIF5B 963 Kinesin-1 heavy chain; Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner (By similarity). Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonizes dynein function and drives the separation of nuclei and centrosomes; Kinesins 9606.ENSP00000307093 MAP6 813 Microtubule-associated protein 6; Involved in microtubule stabilization in many cell types, including neuronal cells. Specifically has microtubule cold stabilizing activity. Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with TMEM106B 9606.ENSP00000307126 DEGS2 323 Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2; Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase; Fatty acid desaturases 9606.ENSP00000307129 C8orf74 294 Uncharacterized protein C8orf74; Chromosome 8 open reading frame 74 9606.ENSP00000307130 OR10H3 316 Olfactory receptor 10H3; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000307132 CST5 142 Cystatin-D; Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B; Cystatins, type 2 9606.ENSP00000307134 CTNND2 1225 Catenin delta-2; Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. Involved in the regulation of Wnt signaling. It probably acts on beta- catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules 9606.ENSP00000307142 TEX37 180 Testis-expressed sequence 37 protein; Testis expressed 37 9606.ENSP00000307143 DONSON 566 Protein downstream neighbor of Son; Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra- S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability 9606.ENSP00000307159 OR8B12 310 Olfactory receptor 8B12; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000307164 PATE1 126 Prostate and testis expressed 1; Belongs to the PATE family 9606.ENSP00000307181 FAM103A1 118 RNMT-activating mini protein; Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAM/FAM103A1 complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs. Promotes the recruitment of the methyl donor, S- adenosyl-L-methionine, to RNMT. Regulates RNMT expression by a post-transcriptional stabilizing mechanism. Binds RNA 9606.ENSP00000307183 ING2 280 Inhibitor of growth protein 2; Seems to be involved in p53/TP53 activation and p53/TP53-dependent apoptotic pathways, probably by enhancing acetylation of p53/TP53. Component of a mSin3A-like corepressor complex, which is probably involved in deacetylation of nucleosomal histones. ING2 activity seems to be modulated by binding to phosphoinositides (PtdInsPs); Belongs to the ING family 9606.ENSP00000307188 ASL 464 Argininosuccinate lyase 9606.ENSP00000307197 DNAJB7 309 DnaJ homolog subfamily B member 7; Probably acts as a co-chaperone; DNAJ heat shock proteins 9606.ENSP00000307199 AHSP 102 Alpha-hemoglobin-stabilizing protein; Acts as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia; Belongs to the AHSP family 9606.ENSP00000307208 BPTF 2920 Nucleosome-remodeling factor subunit BPTF; Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors; Belongs to the PBTF family 9606.ENSP00000307214 LCMT2 686 tRNA wybutosine-synthesizing protein 4; Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity). May methylate the carboxyl group of leucine residues to form alpha- leucine ester residues; Belongs to the methyltransferase superfamily. LCMT family 9606.ENSP00000307234 PCDHB1 818 Protocadherin beta-1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000307235 EIF2AK3 1116 Eukaryotic translation initiation factor 2-alpha kinase 3; Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated [...] 9606.ENSP00000307240 KRT74 529 Keratin, type II cytoskeletal 74; Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable); Keratins, type II 9606.ENSP00000307241 PDHB 359 Pyruvate dehydrogenase E1 component subunit beta, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle 9606.ENSP00000307259 P2RY12 342 P2Y purinoceptor 12; Receptor for ADP and ATP coupled to G-proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation; P2Y receptors 9606.ENSP00000307260 TBL2 447 Transducin beta-like protein 2; WD repeat domain containing 9606.ENSP00000307264 C11orf24 449 Uncharacterized protein C11orf24; Chromosome 11 open reading frame 24 9606.ENSP00000307265 IRF2BP1 584 Interferon regulatory factor 2-binding protein 1; Acts as a transcriptional corepressor in a IRF2- dependent manner; this repression is not mediated by histone deacetylase activities. May act as an E3 ligase towards JDP2, enhancing its polyubiquitination. Represses ATF2-dependent transcriptional activation 9606.ENSP00000307272 RPTOR 1335 Regulatory-associated protein of mTOR; Involved in the control of the mammalian target of rapamycin complex 1 (mTORC1) activity which regulates cell growth and survival, and autophagy in response to nutrient and hormonal signals; functions as a scaffold for recruiting mTORC1 substrates. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1- mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTO [...] 9606.ENSP00000307275 SCAMP3 347 Secretory carrier-associated membrane protein 3; Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface; Belongs to the SCAMP family 9606.ENSP00000307280 MYL1 194 Myosin light chain 1/3, skeletal muscle isoform; Regulatory light chain of myosin. Does not bind calcium; EF-hand domain containing 9606.ENSP00000307288 MCM7 719 DNA replication licensing factor MCM7; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] 9606.ENSP00000307292 PRKCDBP 261 Caveolae-associated protein 3; Regulates the traffic and/or budding of caveolae. Plays a role in caveola formation in a tissue- specific manner. Required for the formation of caveolae in smooth muscle but not in the lung and heart endothelial cells. Regulates the equilibrium between cell surface-associated and cell surface- dissociated caveolae by promoting the rapid release of caveolae from the cell surface. Plays a role in the regulation of the circadian clock. Modulates the period length and phase of circadian gene expression and also regulates expression and interaction of the core [...] 9606.ENSP00000307297 CHST14 376 Carbohydrate sulfotransferase 14; Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may [...] 9606.ENSP00000307298 FEM1B 627 Protein fem-1 homolog B; Component of an E3 ubiquitin-protein ligase complex, in which it may act as a substrate recognition subunit. Involved in apoptosis by acting as a death receptor-associated protein that mediates apoptosis. Also involved in glucose homeostasis in pancreatic islet. Functions as an adapter/mediator in replication stress-induced signaling that leads to the activation of CHEK1; Belongs to the fem-1 family 9606.ENSP00000307305 DDIT4 232 DNA damage-inducible transcript 4 protein; Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell typ [...] 9606.ENSP00000307321 HOXC10 342 Homeobox protein Hox-C10; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000307342 HCN1 890 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli 9606.ENSP00000307369 SHE 495 SH2 domain-containing adapter protein E; Src homology 2 domain containing E 9606.ENSP00000307411 MLLT10 1068 Protein AF-10; Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA; PHD finger proteins 9606.ENSP00000307423 MGAT2 447 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; Catalyzes an essential step in the conversion of oligo- mannose to complex N-glycans; Mannosyl-glycoprotein N-acetylglucosaminyltransferases 9606.ENSP00000307443 SLC22A25 547 Solute carrier family 22 member 25; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family 9606.ENSP00000307449 NECAB2 386 N-terminal EF-hand calcium-binding protein 2; May act as a signaling scaffold protein that senses intracellular calcium. Can modulate ligand-induced internalization of ADORA2A and coupling efficiency of mGluR5/GRM5; for both receptors may regulate signaling activity such as promoting MAPK1/3 (ERK1/2) activation; EF-hand domain containing 9606.ENSP00000307461 KIAA1024 916 UPF0258 protein KIAA1024; KIAA1024 9606.ENSP00000307479 ARNT2 717 Aryl hydrocarbon receptor nuclear translocator 2; Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function. Specifically recognizes the xenobiotic response element (XRE); Basic helix-loop-helix proteins 9606.ENSP00000307491 WDR48 677 WD repeat-containing protein 48; Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46. Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity of complexes containing USP12. Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme. Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. In complex with USP12, acts [...] 9606.ENSP00000307508 CALB2 271 Calretinin; Calretinin is a calcium-binding protein which is abundant in auditory neurons; EF-hand domain containing 9606.ENSP00000307513 MRC2 1479 C-type mannose receptor 2; May play a role as endocytotic lectin receptor displaying calcium-dependent lectin activity. Internalizes glycosylated ligands from the extracellular space for release in an endosomal compartment via clathrin-mediated endocytosis. May be involved in plasminogen activation system controlling the extracellular level of PLAUR/PLAU, and thus may regulate protease activity at the cell surface. May contribute to cellular uptake, remodeling and degradation of extracellular collagen matrices. May play a role during cancer progression as well as in other chronic tissu [...] 9606.ENSP00000307515 OR9G4 327 Olfactory receptor 9G4; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000307519 TMPRSS11E 423 Transmembrane protease serine 11E; Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for Arg in the P1 position 9606.ENSP00000307540 CST2 141 Cystatin-SA; Thiol protease inhibitor; Cystatins, type 2 9606.ENSP00000307549 NPTX1 432 Neuronal pentraxin-1; May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses; Long pentraxins 9606.ENSP00000307552 NINJ2 188 Ninjurin-2; Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues 9606.ENSP00000307567 QARS 775 Glutamine--tRNA ligase; Glutamine--tRNA ligase. Plays a critical role in brain development; Belongs to the class-I aminoacyl-tRNA synthetase family 9606.ENSP00000307598 OR9K2 335 Olfactory receptor 9K2; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000307599 SCN11A 1791 Sodium channel protein type 11 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization; Sodium voltage-gated channel alpha subunits 9606.ENSP00000307604 ZBTB5 677 Zinc finger and BTB domain-containing protein 5; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000307607 SDR16C5 309 Epidermal retinol dehydrogenase 2; Oxidoreductase with strong preference for NAD. Active in both the oxidative and reductive directions. Oxidizes all-trans- retinol in all-trans-retinaldehyde. No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000307634 AGAP1 857 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1; GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system; Belongs to the centaurin gamma-like family 9606.ENSP00000307636 MORN4 146 MORN repeat-containing protein 4; Plays a role in promoting axonal degeneration following neuronal injury by toxic insult or trauma 9606.ENSP00000307640 TTC36 189 Tetratricopeptide repeat domain containing 9606.ENSP00000307666 CCDC132 964 Syndetin; Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4- positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN) 9606.ENSP00000307674 CANT1 401 Soluble calcium-activated nucleotidase 1; Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis 9606.ENSP00000307684 TADA3 432 Transcriptional adapter 3; Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex. Also known as a coactivator for p53/TP53-dependent transcriptional activation. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4; Belongs to the NGG1 family 9606.ENSP00000307694 KCNS1 526 Potassium voltage-gated channel subfamily S member 1; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1 and KCNB2; modulates the delayed rectifier voltage- gated potassium channel activation and deactivation rates of KCNB1 and KCNB2 9606.ENSP00000307697 ACOX2 681 Peroxisomal acyl-coenzyme A oxidase 2; Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids; Belongs to the acyl-CoA oxidase family 9606.ENSP00000307701 TSPAN5 268 Tetraspanin-5; Regulates ADAM10 maturation and trafficking to the cell surface. Promotes ADAM10-mediated cleavage of CD44; Tetraspanins 9606.ENSP00000307705 HIST1H1E 219 Histone H1.4; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity) 9606.ENSP00000307706 MT1E 61 Metallothionein-1E; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family 9606.ENSP00000307722 HMP19 171 Neuronal vesicle trafficking-associated protein 2; Neuron-specific protein family member 2 9606.ENSP00000307726 OR2C1 312 Olfactory receptor 2C1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000307741 CMTM8 173 CKLF like MARVEL transmembrane domain containing 8; Belongs to the chemokine-like factor family 9606.ENSP00000307746 ZNF608 1512 Zinc finger protein 608; Transcription factor, which represses ZNF609 transcription; Zinc fingers C2H2-type 9606.ENSP00000307766 HTR1E 365 5-hydroxytryptamine receptor 1E; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity 9606.ENSP00000307774 ZNF239 458 Zinc finger protein 239; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000307786 CYCS 105 Cytochrome c; Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain 9606.ENSP00000307801 ZPLD1 431 Zona pellucida-like domain-containing protein 1; Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ 9606.ENSP00000307822 NPFFR2 522 Neuropeptide FF receptor 2; Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system 9606.ENSP00000307831 GPR113 1079 Adhesion G-protein coupled receptor F3; Orphan receptor 9606.ENSP00000307833 FBXO22 403 F-box only protein 22; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Promotes the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and filamin-C (FLNC), essential for maintenance of normal contractile function; F-boxes other 9606.ENSP00000307850 DRAP1 205 Dr1-associated corepressor; The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own 9606.ENSP00000307853 MUS81 551 Crossover junction endonuclease MUS81; Interacts with EME1 and EME2 to form a DNA structure- specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks; Belongs to the XPF family 9606.ENSP00000307854 PCMTD2 361 protein-L-isoaspartate O-methyltransferase domain containing 2; Belongs to the methyltransferase superfamily. L- isoaspartyl/D-aspartyl protein methyltransferase family 9606.ENSP00000307858 ZBTB4 1013 Zinc finger and BTB domain-containing protein 4; Transcriptional repressor with bimodal DNA-binding specificity. Represses transcription in a methyl-CpG-dependent manner. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Can also bind specifically to a single methyl-CpG pair and can bind hemimethylated DNA but with a lower affinity compared to methylated DNA. Plays a role in postnatal myogenesis, may be involved in [...] 9606.ENSP00000307860 DIRC1 104 Disrupted in renal carcinoma 1 9606.ENSP00000307863 U2AF2 475 Splicing factor U2AF 65 kDa subunit; Necessary for the splicing of pre-mRNA. By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the [...] 9606.ENSP00000307879 C11orf45 145 Putative uncharacterized protein C11orf45; Chromosome 11 open reading frame 45 9606.ENSP00000307889 RPL13 211 Ribosomal protein L13 9606.ENSP00000307900 GLUL 373 Glutamine synthetase; This enzyme has 2 functions: it catalyzes the production of glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA), the latter in a pyridoxal phosphate-independent manner (By similarity). Essential for proliferation of fetal skin fibroblasts; Belongs to the glutamine synthetase family 9606.ENSP00000307911 CHST2 530 Carbohydrate sulfotransferase 2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within keratan-like structures on N-linked glycans and within mucin-associated glycans that can ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X and in lymphocyte homing to Peyer pat [...] 9606.ENSP00000307939 GCC2 1684 GRIP and coiled-coil domain-containing protein 2; Golgin which probably tethers transport vesicles to the trans-Golgi network (TGN) and regulates vesicular transport between the endosomes and the Golgi. As a RAB9A effector it is involved in recycling of the mannose 6-phosphate receptor from the late endosomes to the TGN. May also play a role in transport between the recycling endosomes and the Golgi. Required for maintenance of the Golgi structure, it is involved in the biogenesis of noncentrosomal, Golgi-associated microtubules through recruitment of CLASP1 and CLASP2 9606.ENSP00000307940 EEF2 858 Elongation factor 2; Catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post- translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily 9606.ENSP00000307951 HIGD2B 106 HIG1 hypoxia inducible domain family member 2B 9606.ENSP00000307954 FAM174A 190 Membrane protein FAM174A; Family with sequence similarity 174 member A 9606.ENSP00000307958 IQCF1 205 IQ domain-containing protein F1; Involved in sperm capacitation and acrosome reaction 9606.ENSP00000307959 DST 5537 Dystonin; Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin- containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two- dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for [...] 9606.ENSP00000307971 RFNG 331 Beta-1,3-N-acetylglucosaminyltransferase radical fringe; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in enhancement of NOTCH1 activation by DLL1 and JAG1. May be involved in limb formation and in neurogenesis 9606.ENSP00000307975 METTL18 372 Histidine protein methyltransferase 1 homolog; Probable histidine methyltransferase 9606.ENSP00000308000 TUT1 912 Speckle targeted PIP5K1A-regulated poly(A) polymerase; Poly(A) polymerase that creates the 3'-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3'-end cleavage of pre-mRNAs: binds to the 3'UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3'UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher tha [...] 9606.ENSP00000308012 PABPC5 382 Polyadenylate-binding protein 5; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity); RNA binding motif containing 9606.ENSP00000308022 TADA2B 420 Transcriptional adapter 2-beta; Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2; Myb/SANT domain containing 9606.ENSP00000308024 PCSK1 753 Neuroendocrine convertase 1; Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP; Belongs to the peptidase S8 family. Furin subfamily 9606.ENSP00000308032 CYP2S1 504 Cytochrome P450 2S1; Has a potential importance for extrahepatic xenobiotic metabolism; Cytochrome P450 family 2 9606.ENSP00000308057 SNCB 134 Beta-synuclein; Non-amyloid component of senile plaques found in Alzheimer disease. Could act as a regulator of SNCA aggregation process. Protects neurons from staurosporine and 6-hydroxy dopamine (6OHDA)-stimulated caspase activation in a p53/TP53- dependent manner. Contributes to restore the SNCA anti-apoptotic function abolished by 6OHDA. Not found in the Lewy bodies associated with Parkinson disease 9606.ENSP00000308082 OR10P1 313 Olfactory receptor 10P1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000308117 CD248 757 Endosialin; May play a role in tumor angiogenesis; C-type lectin domain containing 9606.ENSP00000308122 ATP6V0A4 840 V-type proton ATPase 116 kDa subunit a isoform 4; Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney; V-type ATPases 9606.ENSP00000308149 AMZ1 498 Archaemetzincin-1; Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze angiotensin-2; Belongs to the peptidase M54 family 9606.ENSP00000308179 WDR3 943 WD repeat-containing protein 3; WD repeat domain containing; Belongs to the WD repeat WDR3/UTP12 family 9606.ENSP00000308193 RNASEH2C 164 Ribonuclease H2 subunit C; Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes 9606.ENSP00000308208 MMP14 582 Matrix metalloproteinase-14; Endopeptidase that degrades various components of the extracellular matrix such as collagen. Activates progelatinase A. Essential for pericellular collagenolysis and modeling of skeletal and extraskeletal connective tissues during development (By similarity). May be involved in actin cytoskeleton reorganization by cleaving PTK7. Acts as a positive regulator of cell growth and migration via activation of MMP15. Involved in the formation of the fibrovascular tissues in association with pro-MMP2. Cleaves ADGRB1 to release vasculostatin-40 which inhibits angiog [...] 9606.ENSP00000308219 RGMB 478 RGM domain family member B; Member of the repulsive guidance molecule (RGM) family that contributes to the patterning of the developing nervous system (By similarity). Acts as a bone morphogenetic protein (BMP) coreceptor that potentiates BMP signaling (By similarity). Promotes neuronal adhesion (By similarity). May inhibit neurite outgrowth 9606.ENSP00000308236 COMMD1 190 COMM domain-containing protein 1; Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2. Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity. Involved in the regulation of membrane expression and ubiquitin [...] 9606.ENSP00000308258 PTDSS2 487 Phosphatidylserine synthase 2; Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine; Belongs to the phosphatidyl serine synthase family 9606.ENSP00000308270 OR5B3 314 Olfactory receptor 5B3; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000308275 MRPL38 380 Mitochondrial ribosomal protein L38; Belongs to the phosphatidylethanolamine-binding protein family. Mitochondrion-specific ribosomal protein mL38 subfamily 9606.ENSP00000308279 C9orf131 1079 Uncharacterized protein C9orf131; Chromosome 9 open reading frame 131 9606.ENSP00000308292 FAM170B 283 Protein FAM170B; Plays a role in fertilization through the acrosome reaction; Belongs to the FAM170 family 9606.ENSP00000308315 PODN 661 Podocan; Negatively regulates cell proliferation and cell migration; Small leucine rich repeat proteoglycans 9606.ENSP00000308318 PPP1R3B 285 Protein phosphatase 1 regulatory subunit 3B; Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated gl [...] 9606.ENSP00000308330 MYEOV 313 Myeloma-overexpressed gene protein; Myeloma overexpressed 9606.ENSP00000308332 UTP23 249 rRNA-processing protein UTP23 homolog; Involved in rRNA-processing and ribosome biogenesis; Belongs to the UTP23/FCF1 family. UTP23 subfamily 9606.ENSP00000308334 ATP5S 215 ATP synthase subunit s, mitochondrial; Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity) 9606.ENSP00000308339 SEC16B 1060 Protein transport protein Sec16B; Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus and for normal transitional endoplasmic reticulum (tER) organization; Belongs to the SEC16 family 9606.ENSP00000308351 MLKL 471 Mixed lineage kinase domain-like protein; Pseudokinase that plays a key role in TNF-induced necroptosis, a programmed cell death process. Activated following phosphorylation by RIPK3, leading to homotrimerization, localization to the plasma membrane and execution of programmed necrosis characterized by calcium influx and plasma membrane damage. Does not have protein kinase activity 9606.ENSP00000308354 TIGD3 471 Tigger transposable element-derived protein 3; Helix-turn-helix CENPB type domain containing; DNA transposon derived genes 9606.ENSP00000308361 P2RY14 338 P2Y purinoceptor 14; Receptor for UDP-glucose and other UDP-sugar coupled to G-proteins. Not activated by ATP, ADP, UTP or ATP; P2Y receptors 9606.ENSP00000308368 C12orf76 135 Uncharacterized protein C12orf76; Chromosome 12 open reading frame 76 9606.ENSP00000308369 LEMD3 911 Inner nuclear membrane protein Man1; Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest; LEM domain containing 9606.ENSP00000308405 H2AFV 128 Histone H2A.V; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for ch [...] 9606.ENSP00000308413 RPS6KB2 482 Ribosomal protein S6 kinase beta-2; Phosphorylates specifically ribosomal protein S6 9606.ENSP00000308430 CYB5B 150 Cytochrome b5 type B; Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases 9606.ENSP00000308452 KRT17 432 Keratin, type I cytoskeletal 17; Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF-alpha in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a mark [...] 9606.ENSP00000308461 RND1 232 Rho-related GTP-binding protein Rho6; Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments; Rho family GTPases 9606.ENSP00000308472 EIF4EBP3 100 Eukaryotic translation initiation factor 4E-binding protein 3; Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation 9606.ENSP00000308479 GPR171 319 Probable G-protein coupled receptor 171; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000308496 ARL10 244 ADP-ribosylation factor-like protein 10; ADP ribosylation factor like GTPase 10; Belongs to the small GTPase superfamily. Arf family 9606.ENSP00000308515 DCAKD 231 dephospho-CoA kinase domain containing 9606.ENSP00000308533 GEMIN2 280 Gem-associated protein 2; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] 9606.ENSP00000308535 GOLT1A 132 Vesicle transport protein GOT1A; May be involved in fusion of ER-derived transport vesicles with the Golgi complex 9606.ENSP00000308541 F2 622 Prothrombin; Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing; Belongs to the peptidase S1 family 9606.ENSP00000308546 MEPCE 689 7SK snRNA methylphosphate capping enzyme; S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK snRNA, leading to stabilize it 9606.ENSP00000308548 ZNHIT2 403 Zinc finger HIT-type containing 2 9606.ENSP00000308576 RHOD 210 Rho-related GTP-binding protein RhoD; Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution; Belongs to the small GTPase superfamily. Rho family 9606.ENSP00000308578 ZNF431 576 Zinc finger protein 431; Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5'-GCGCCC-3' in the promoter of PTCH1 (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000308583 APITD1 138 Centromere protein S; DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked rep [...] 9606.ENSP00000308591 GAL3ST3 431 Galactose-3-O-sulfotransferase 3; Transfers a sulfate to position 3 of non-reducing beta- galactosyl residues in N-glycans and core2-branched O-glycans. Has high activity towards Gal-beta-1,4-GlcNAc, Gal-beta-1,4(Fuc-alpha- 1,3)GlcNAc and lower activity towards Gal-beta-1,3(Fuc-alpha- 1,4)GlcNAc; Belongs to the galactose-3-O-sulfotransferase family 9606.ENSP00000308595 OR5R1 324 Olfactory receptor 5R1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000308597 DLEC1 1755 Deleted in lung and esophageal cancer protein 1; May act as a tumor suppressor by inhibiting cell proliferation; Cilia and flagella associated 9606.ENSP00000308606 AGR3 166 Anterior gradient protein 3; Required for calcium-mediated regulation of ciliary beat frequency and mucociliary clearance in the airway. Might be involved in the regulation of intracellular calcium in tracheal epithelial cells; Belongs to the AGR family 9606.ENSP00000308610 GPD2 727 Glycerol-3-phosphate dehydrogenase, mitochondrial; Glycerol-3-phosphate dehydrogenase 2; Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family 9606.ENSP00000308622 GLE1 698 Nucleoporin GLE1; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC); Belongs to the GLE1 family 9606.ENSP00000308689 OR10AD1 317 Olfactory receptor 10AD1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000308695 DPY19L1 675 Probable C-mannosyltransferase DPY19L1; Probable C-mannosyltransferase that mediates C- mannosylation of tryptophan residues on target proteins 9606.ENSP00000308708 TCP11 516 T-complex protein 11 homolog; Plays a role in the process of sperm capacitation and acrosome reactions. Probable receptor for the putative fertilization-promoting peptide (FPP) at the sperm membrane that may modulate the activity of the adenylyl cyclase cAMP pathway; Belongs to the TCP11 family 9606.ENSP00000308714 OR9Q2 314 Olfactory receptor 9Q2; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000308716 INHBC 352 Inhibin beta C chain; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins; Belongs to the TGF-beta family 9606.ENSP00000308717 MRPL48 212 Mitochondrial ribosomal protein L48 9606.ENSP00000308720 PRSS1 247 Trypsin-1; Has activity against the synthetic substrates Boc-Phe- Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val- Pro-Arg-Mec. The single-chain form is more active than the two- chain form against all of these substrates; Belongs to the peptidase S1 family 9606.ENSP00000308725 GABRB3 473 Gamma-aminobutyric acid receptor subunit beta-3; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB3 sub-subfamily 9606.ENSP00000308727 SUSD5 629 Sushi domain containing 5 9606.ENSP00000308733 GPR151 419 Probable G-protein coupled receptor 151; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000308741 CLOCK 846 Circadian locomoter output cycles protein kaput; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time- keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, [...] 9606.ENSP00000308750 CBX2 532 Chromobox protein homolog 2; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in [...] 9606.ENSP00000308753 TMOD3 352 Tropomodulin-3; Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity); Belongs to the tropomodulin family 9606.ENSP00000308759 ZBTB21 1066 Zinc finger and BTB domain-containing protein 21; Acts as a transcription repressor; BTB domain containing 9606.ENSP00000308764 OR52I2 350 Olfactory receptor 52I2; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000308770 SULT1B1 296 Sulfotransferase family cytosolic 1B member 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3'-diiodothyronine, triidothyronine, reverse triiodothyronine and thyroxine; Sulf [...] 9606.ENSP00000308772 ANKS4B 417 Ankyrin repeat and SAM domain-containing protein 4B; As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex. May play a role in cellular response to endoplasmic reticulum stress (By similarity); Ankyrin repeat domain containing 9606.ENSP00000308782 GP6 620 Platelet glycoprotein VI; Collagen receptor involved in collagen-induced platelet adhesion and activation. Plays a key role in platelet procoagulant activity and subsequent thrombin and fibrin formation. This procoagulant function may contribute to arterial and venous thrombus formation. The signaling pathway involves the FcR gamma- chain, the Src kinases (likely FYN or LYN) and SYK, the adapter protein LAT and leads to the activation of PLCG2; Ig-like cell adhesion molecule family 9606.ENSP00000308815 CCL19 98 C-C motif chemokine 19; May play a role not only in inflammatory and immunological responses but also in normal lymphocyte recirculation and homing. May play an important role in trafficking of T-cells in thymus, and T-cell and B-cell migration to secondary lymphoid organs. Binds to chemokine receptor CCR7. Recombinant CCL19 shows potent chemotactic activity for T-cells and B-cells but not for granulocytes and monocytes. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000308820 RIC3 369 Protein RIC-3; Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5- HT3 receptors, and of heteromeric acetylcholine receptors alpha- 3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4 9606.ENSP00000308873 CCDC74B 380 Coiled-coil domain containing 74B 9606.ENSP00000308893 SNED1 1413 Sushi, nidogen and EGF-like domain-containing protein 1; Fibronectin type III domain containing 9606.ENSP00000308895 SLC19A1 591 Folate transporter 1; Transporter for the intake of folate. Uptake of folate in human placental choriocarcinoma cells occurs by a novel mechanism called potocytosis which functionally couples three components, namely the folate receptor, the folate transporter, and a V-type H(+)-pump; Minor histocompatibility antigens 9606.ENSP00000308897 MRPL11 192 Mitochondrial ribosomal protein L11; Belongs to the universal ribosomal protein uL11 family 9606.ENSP00000308908 GPR148 347 Probable G-protein coupled receptor 148; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000308921 ZCCHC12 402 Zinc finger CCHC domain-containing protein 12; Transcriptional coactivator in the bone morphogenetic protein (BMP)-signaling pathway. It positively modulates BMP signaling by interacting with SMAD1 and associating with CBP in the transcription complex. It contributes to the BMP-induced enhancement of cholinergic-neuron-specific gene expression (By similarity); Paraneoplastic Ma antigens 9606.ENSP00000308925 TLR10 811 Toll-like receptor 10; Participates in the innate immune response to microbial agents. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity); Belongs to the Toll-like receptor family 9606.ENSP00000308926 PPM1J 505 Protein phosphatase, Mg2+/Mn2+ dependent 1J 9606.ENSP00000308938 PLG 810 Plasminogen; Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated b [...] 9606.ENSP00000308944 HLTF 1009 Helicase-like transcription factor; Has both helicase and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent nucleosome-remodeling activity; This activity may be required for transcriptional activation or repression of specific target promoters (By similarity). These may include the SERPINE1 and HIV-1 promoters and the SV40 enhancer, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for 'Lys-63'-linked polyubiquitination of chromatin-bound PC [...] 9606.ENSP00000308970 PSG1 428 Pregnancy specific beta-1-glycoprotein 1; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000308976 VWC2L 222 Von Willebrand factor C domain-containing protein 2-like; May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization 9606.ENSP00000309007 THAP6 222 THAP domain containing 6 9606.ENSP00000309012 OR9G1 305 Olfactory receptor 9G1; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000309031 VCPIP1 1222 Deubiquitinating protein VCIP135; Acts as a deubiquitinating enzyme. Necessary for VCP- mediated reassembly of Golgi stacks after mitosis. May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER). Mediates dissociation of the ternary complex containing STX5A, NSFL1C and VCP (By similarity). Hydrolyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitin chains; OTU domain containing 9606.ENSP00000309036 TSPAN17 332 Tetraspanin-17; Regulates ADAM10 maturation; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000309052 CATSPER1 780 Cation channel sperm-associated protein 1; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte; Cation channels sperm associated 9606.ENSP00000309087 PLAC8L1 177 PLAC8-like protein 1; PLAC8 like 1; Belongs to the cornifelin family 9606.ENSP00000309092 GMPPB 387 Mannose-1-phosphate guanyltransferase beta; Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids; Belongs to the transferase hexapeptide repeat family 9606.ENSP00000309096 B3GNT1 415 Beta-1,4-glucuronyltransferase 1; Beta-1,4-glucuronyltransferase involved in O- mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O- mannosyl glycan. Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Required for [...] 9606.ENSP00000309116 PTPN7 465 Tyrosine-protein phosphatase non-receptor type 7; Protein phosphatase that acts preferentially on tyrosine-phosphorylated MAPK1. Plays a role in the regulation of T and B-lymphocyte development and signal transduction; Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily 9606.ENSP00000309117 RBFOX1 418 RNA binding protein fox-1 homolog 1; RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis 9606.ENSP00000309124 OLR1 273 Oxidized low-density lipoprotein receptor 1; Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation and dysfunction, resulting in pro-inflammatory responses, pro- oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro- atherogenic cellular responses including a reductio [...] 9606.ENSP00000309126 NSUN5 470 Probable 28S rRNA (cytosine-C(5))-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA 9606.ENSP00000309132 BCL2L14 327 Apoptosis facilitator Bcl-2-like protein 14; Plays a role in apoptosis; Belongs to the Bcl-2 family 9606.ENSP00000309141 MARCH3 253 E3 ubiquitin-protein ligase MARCH3; E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates; Membrane associated ring-CH-type fingers 9606.ENSP00000309142 PDE12 609 2',5'-phosphodiesterase 12; Enzyme that cleaves 2',5'-phosphodiester bond linking adenosines of the 5'-triphosphorylated oligoadenylates, triphosphorylated oligoadenylates referred as 2-5A modulates the 2-5A system. This enzyme degraded triphosphorylated 2-5A to produce AMP and ATP. Also cleaves 3',5'-phosphodiester bond of oligoadenylates. Plays a role as a negative regulator of the The 2-5A system that is one of the major pathways for antiviral and antitumor functions induced by interferons (IFNs). Suppression of this enzyme induces reduction of viral replication in Hela cells, thus [...] 9606.ENSP00000309161 ZNF471 626 Zinc finger protein 471; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000309163 RCE1 329 CAAX prenyl protease 2; Proteolytically removes the C-terminal three residues of farnesylated and geranylated proteins. Seems to be able to process K-Ras, N-Ras, H-Ras, RAP1B and G-gamma-1 9606.ENSP00000309175 EIF1AD 165 Probable RNA-binding protein EIF1AD; Plays a role into cellular response to oxidative stress. Decreases cell proliferation 9606.ENSP00000309186 SH3RF3 882 SH3 domain containing ring finger 3 9606.ENSP00000309189 SPERT 448 Spermatid-associated protein; Spermatid associated 9606.ENSP00000309198 UBE3C 1083 Ubiquitin-protein ligase E3C; E3 ubiquitin-protein ligase that accepts ubiquitin from the E2 ubiquitin-conjugating enzyme UBE2D1 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Can assemble unanchored poly-ubiquitin chains in either 'Lys-29'- or 'Lys-48'-linked polyubiquitin chains. Has preference for 'Lys-48' linkages. It can target itself for ubiquitination in vitro and may promote its own degradation in vivo 9606.ENSP00000309233 POMZP3 187 POM121 and ZP3 fusion 9606.ENSP00000309262 USP48 1035 Ubiquitin carboxyl-terminal hydrolase 48; Recognizes and hydrolyzes the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins. May be involved in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites; Belongs to the peptidase C19 family 9606.ENSP00000309270 CHST1 411 Carbohydrate sulfotransferase 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of galactose (Gal) residues of keratan. Has a preference for sulfating keratan sulfate, but it also transfers sulfate to the unsulfated polymer. The sulfotransferase activity on sialyl LacNAc structures is much higher than the corresponding desialylated substrate, and only internal Gal residues are sulfated. May function in the sulfation of sialyl N- acetyllactosamine oligosaccharide chains attached to glycoproteins. [...] 9606.ENSP00000309285 CCDC96 555 Coiled-coil domain containing 96 9606.ENSP00000309330 ZNF680 530 Zinc finger protein 680; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000309334 RPL15 204 Ribosomal protein L15 9606.ENSP00000309336 HOXC5 222 Homeobox protein Hox-C5; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000309338 CLCF1 225 Cardiotrophin-like cytokine factor 1; Cytokine with B-cell stimulating capability. Binds to and activates the ILST/gp130 receptor; Interleukin 6 type cytokine family 9606.ENSP00000309376 CD164 197 Sialomucin core protein 24; Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity) 9606.ENSP00000309402 TRAM1L1 369 Translocating chain-associated membrane protein 1-like 1; Stimulatory or required for the translocation of secretory proteins across the ER membrane; TLC domain containing 9606.ENSP00000309415 CLTB 229 Clathrin light chain B; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles; Belongs to the clathrin light chain family 9606.ENSP00000309429 ZDHHC24 284 Probable palmitoyltransferase ZDHHC24; Zinc finger DHHC-type containing 24; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000309430 PIGS 555 GPI transamidase component PIG-S; Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates; Belongs to the PIGS family 9606.ENSP00000309431 TUBB8P12 444 Tubulin beta-8 chain-like protein LOC260334; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity); Belongs to the tubulin family 9606.ENSP00000309432 FAM134C 466 Reticulophagy regulator 3; Mediates NRF1-enhanced neurite outgrowth; Belongs to the RETREG family 9606.ENSP00000309439 HOXB9 250 Homeobox protein Hox-B9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family 9606.ENSP00000309457 VPS41 854 Vacuolar protein sorting-associated protein 41 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act in part as a core component of the putative HOPS endosomal tethering complex is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE- mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal m [...] 9606.ENSP00000309463 LIPT2 231 Putative lipoyltransferase 2, mitochondrial; Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein onto the lipoyl domains of lipoate-dependent enzymes, which catalyze essential redox reactions. Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate (By similarity); Belongs to the LipB family 9606.ENSP00000309474 PSMD1 953 26S proteasome non-ATPase regulatory subunit 1; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S1 family 9606.ENSP00000309477 ACO1 889 Cytoplasmic aconitate hydratase; Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding 9606.ENSP00000309493 GPRC6A 926 G-protein coupled receptor family C group 6 member A; Receptor activated by amino acids with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine but also by small and polar amino acids. The L-alpha amino acids respond is augmented by divalent cations Ca(2+) and Mg(2+). Activated by extracellular calcium and osteocalcin. Seems to act through a G(q)/G(11) and G(i)-coupled pathway. Mediates the non-genomic effects of androgens in multiple tissue. May coordinate nutritional and hormonal anabolic signals through the sensing of extracellular amino acids, osteocalcin, diva [...] 9606.ENSP00000309501 NWD2 1742 NACHT and WD repeat domain containing 2 9606.ENSP00000309504 SLC26A7 663 Anion exchange transporter; Acts as a sodium-independent DIDS-sensitive anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. May play a role in the maintenance of the electrolyte and acid-base homeostasis in the kidney, by acting as a distal excretory segment-specific anion exchanger. Plays a major role in gastric acid secretion; Solute carriers 9606.ENSP00000309515 PHYHD1 297 Phytanoyl-CoA dioxygenase domain-containing protein 1; Isoform 1 has alpha-ketoglutarate-dependent dioxygenase activity. Does not show detectable activity towards fatty acid CoA thioesters. Is not expected to be active with phytanoyl CoA. Isoform 2 and isoform 3 probably lack enzyme activity 9606.ENSP00000309521 LIME1 295 Lck-interacting transmembrane adapter 1; Involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and TCR (T-cell antigen receptor)-mediated T- cell signaling in T-cells. In absence of TCR signaling, may be involved in CD4-mediated inhibition of T-cell activation. Couples activation of these receptors and their associated kinases with distal intracellular events such as calcium mobilization or MAPK activation through the recruitment of PLCG2, GRB2, GRAP2, and other signaling molecules 9606.ENSP00000309524 CSHL1 222 Chorionic somatomammotropin hormone-like 1; May be a novel gestational hormone required to compensate for absence of other members of the GH/CS cluster during gestation; Growth hormone family 9606.ENSP00000309538 DAPL1 107 Death-associated protein-like 1; May play a role in the early stages of epithelial differentiation or in apoptosis 9606.ENSP00000309539 DPYSL2 572 Dihydropyrimidinase-related protein 2; Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a role in endocytosis; Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family 9606.ENSP00000309542 PGA5 388 Pepsin A-5; Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent 9606.ENSP00000309548 PDP2 529 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial; Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex; Protein phosphatases, Mg2+/Mn2+ dependent 9606.ENSP00000309555 HCFC1 2035 Host cell factor 1; Involved in control of the cell cycle. Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300. Coactivator for EGR2 and GABP2. Tethers the chromatin modifying Set1/Ash2 histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together. Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. As part o [...] 9606.ENSP00000309561 C19orf70 118 MICOS complex subunit MIC13; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MINOS1/MIC10 into the MICOS complex 9606.ENSP00000309565 UQCRH 91 Cytochrome b-c1 complex subunit 6, mitochondrial; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1; Belongs to the UQCRH/QCR6 family 9606.ENSP00000309570 KLF7 302 Krueppel-like factor 7; Transcriptional activator. Binds in vitro to the CACCC motif of the beta-globin promoter and to the SP1 recognition sequence; Kruppel like factors 9606.ENSP00000309572 TERT 1132 Telomerase reverse transcriptase; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA- dependent extension of 3'-chromosomal termini with the 6- n [...] 9606.ENSP00000309591 PRKACA 351 cAMP-dependent protein kinase catalytic subunit alpha; Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP. RORA is activated by phosphorylation. Required for glucose- mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in the [...] 9606.ENSP00000309595 C10orf2 684 Twinkle protein, mitochondrial; Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals 9606.ENSP00000309597 MAP3K11 847 Mitogen-activated protein kinase kinase kinase 11; Activates the JUN N-terminal pathway. Required for serum-stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1) through phosphorylation and activation of MAP2K4/MKK4 and MAP2K7/MKK7. Plays a role in mitogen-stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily 9606.ENSP00000309606 ZNF408 720 Zinc finger protein 408; May be involved in transcriptional regulation; PR/SET domain family 9606.ENSP00000309610 METTL2A 378 Methyltransferase-like protein 2A; Probable S-adenosyl-L-methionine-dependent methyltransferase that mediates 3-methylcytidine modification of some tRNAs 9606.ENSP00000309640 XXYLT1 393 Xyloside xylosyltransferase 1; Alpha-1,3-xylosyltransferase, which elongates the O- linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose. Known targets include Notch proteins and coagulation factors, such as F9; Glycosyltransferase family 8 9606.ENSP00000309644 BOD1 185 Biorientation of chromosomes in cell division protein 1; Required for proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles 9606.ENSP00000309649 CA5A 305 Carbonic anhydrase 5A, mitochondrial; Reversible hydration of carbon dioxide. Low activity; Carbonic anhydrases 9606.ENSP00000309653 GLIS1 620 Zinc finger protein GLIS1; Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity); Zinc fingers C2H2-type 9606.ENSP00000309673 OR52W1 320 Olfactory receptor 52W1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000309689 LRCH4 683 Leucine rich repeats and calponin homology domain containing 4 9606.ENSP00000309714 SH3PXD2B 911 SH3 and PX domain-containing protein 2B; Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity) 9606.ENSP00000309741 SLCO4C1 724 Solute carrier organic anion transporter family member 4C1; Organic anion transporter, capable of transporting pharmacological substances such as digoxin, ouabain, thyroxine, methotrexate and cAMP. May participate in the regulation of membrane transport of ouabain. Involved in the uptake of the dipeptidyl peptidase-4 inhibitor sitagliptin and hence may play a role in its transport into and out of renal proximal tubule cells. May be involved in the first step of the transport pathway of digoxin and various compounds into the urine in the kidney. May be involved in sperm maturation by en [...] 9606.ENSP00000309749 APOBEC3F 373 DNA dC->dU-editing enzyme APOBEC-3F; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels [...] 9606.ENSP00000309751 SLC16A13 426 Monocarboxylate transporter 13; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane; Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family 9606.ENSP00000309757 LPL 475 Lipoprotein lipase; The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium (By similarity); Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000309767 NLRP6 892 NACHT, LRR and PYD domains-containing protein 6; As the sensor component of the NLRP6 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP6, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1- catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. The precise NLRP6 activation stimulus has not been identified yet (By similarity). Essen [...] 9606.ENSP00000309772 CPED1 1026 Cadherin like and PC-esterase domain containing 1 9606.ENSP00000309782 MRGPRF 343 Mas-related G-protein coupled receptor member F; Orphan receptor. May bind to a neuropeptide and may regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity); G protein-coupled receptors, Class A orphans 9606.ENSP00000309790 MIS18BP1 1132 Mis18-binding protein 1; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis; Myb/SANT domain containing 9606.ENSP00000309792 TMEM234 140 Transmembrane protein 234 9606.ENSP00000309794 TBC1D16 767 TBC1 domain family member 16; May act as a GTPase-activating protein for Rab family protein(s) 9606.ENSP00000309830 RPL38 70 Ribosomal protein L38; Belongs to the eukaryotic ribosomal protein eL38 family 9606.ENSP00000309836 CCDC13 715 Coiled-coil domain-containing protein 13; Required for primary cilia formation and promotes the localization of the ciliopathy protein BBS4 to both centriolar satellites and cilia 9606.ENSP00000309899 NARF 456 Nuclear prelamin A recognition factor; Belongs to the NARF family 9606.ENSP00000309913 TBX5 518 T-box transcription factor TBX5; DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation. Binds to the core DNA motif of NPPA promoter; T-boxes 9606.ENSP00000309945 SPNS1 528 Protein spinster homolog 1; Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death 9606.ENSP00000309953 EFEMP2 443 EGF containing fibulin extracellular matrix protein 2; Belongs to the fibulin family 9606.ENSP00000309968 ADAM17 824 Disintegrin and metalloproteinase domain-containing protein 17; Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein. Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membra [...] 9606.ENSP00000310003 CNIH2 160 Protein cornichon homolog 2; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Blocks CACNG8-mediated resensitization of AMPA receptors; Belongs to the cornichon family 9606.ENSP00000310006 NR1D2 579 Nuclear receptor subfamily 1 group D member 2; Transcriptional repressor which coordinates circadian rhythm and metabolic pathways in a heme-dependent manner. Integral component of the complex transcription machinery that governs circadian rhythmicity and forms a critical negative limb of the circadian clock by directly repressing the expression of core clock components ARNTL/BMAL1 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the inflammatory response. Acts as a receptor for heme which stimulates its interaction with the NCOR1/HDAC3 co [...] 9606.ENSP00000310008 SWSAP1 229 ATPase SWSAP1; ATPase which is preferentially stimulated by single- stranded DNA and is involved in homologous recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity; CTLH complex 9606.ENSP00000310015 ADAT1 502 tRNA-specific adenosine deaminase 1; Specifically deaminates adenosine-37 to inosine in tRNA- Ala; Adenosine deaminases acting on RNA 9606.ENSP00000310036 CD34 385 Hematopoietic progenitor cell antigen CD34; Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins; CD molecules 9606.ENSP00000310042 ZNF622 477 Zinc finger protein 622; May behave as an activator of the bound transcription factor, MYBL2, and be involved in embryonic development 9606.ENSP00000310057 FAM53A 398 Protein FAM53A; May play an important role in neural development; the dorsomedial roof of the third ventricle 9606.ENSP00000310094 TAOK2 1235 Serine/threonine-protein kinase TAO2; Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade. Phosphorylates itself, MBP, activated MAPK8, MAP2K3, MAP2K6 and tubulins. Activates the MAPK14/p38 MAPK signaling pathway through the specific activation and phosphorylation of the upstream MAP2K3 and MAP2K6 kinases. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, prob [...] 9606.ENSP00000310110 TMEM255A 349 Transmembrane protein 255A; Belongs to the TMEM255 family 9606.ENSP00000310111 HSPB7 170 Heat shock protein family B member 7 9606.ENSP00000310117 PPP1R14B 147 Protein phosphatase 1 regulatory subunit 14B; Inhibitor of PPP1CA. Has over 50-fold higher inhibitory activity when phosphorylated (By similarity) 9606.ENSP00000310120 ALG10B 473 Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase; Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(2)Man(9)GlcNAc(2)-PP-Dol (By similarity). When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2. Has a role in maintenance of cochlear outer hair cell function (By similarity); [...] 9606.ENSP00000310129 PSMD2 908 26S proteasome non-ATPase regulatory subunit 2; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit S2 family 9606.ENSP00000310149 CYP2W1 490 Cytochrome P450 2W1; Seems to have broad catalytic activity towards several chemicals, including polycyclic aromatic hydrocarbon dihydrodiols and aromatic amines. Active also in the metabolism of indoline substrates and is able to activate aflatoxin B1 into cytotoxic products. Furthermore, it seems to be involved in the oxydation of lysophospholipids and fatty acids; Belongs to the cytochrome P450 family 9606.ENSP00000310170 FOSL1 271 Fos-related antigen 1; FOS like 1, AP-1 transcription factor subunit; Belongs to the bZIP family. Fos subfamily 9606.ENSP00000310182 C4orf32 132 Uncharacterized protein FAM241A; Chromosome 4 open reading frame 32 9606.ENSP00000310205 NRIP3 241 Nuclear receptor interacting protein 3 9606.ENSP00000310208 SLC5A6 635 Sodium-dependent multivitamin transporter; Transports pantothenate, biotin and lipoate in the presence of sodium; Solute carriers 9606.ENSP00000310216 KLRC4 158 NKG2-F type II integral membrane protein; May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells; Killer cell lectin like receptors 9606.ENSP00000310219 HSPA6 643 Heat shock 70 kDa protein 6; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP [...] 9606.ENSP00000310226 RAB1B 201 Ras-related protein Rab-1B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1B regulates vesicular transport between the endoplasmic reticulum and successive Golgi compartments. Plays a role in the initial events of the autophagic vacuole development which t [...] 9606.ENSP00000310241 SLC22A13 551 Solute carrier family 22 member 13 9606.ENSP00000310244 RASGRP1 797 RAS guanyl-releasing protein 1; Functions as a calcium- and diacylglycerol (DAG)- regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. Activates the Erk/MAP kinase cascade. Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B- lymphocyte antigen receptors to Ras. Regulates NK cell cytotoxicity and ITAM- dependent cytokine production by activation of Ras-mediated ERK and JNK pathways. Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses (By [...] 9606.ENSP00000310255 GPR152 470 Probable G-protein coupled receptor 152; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000310260 INTS6 887 Integrator complex subunit 6; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex. May have a tumor suppressor role; an ectopic expression suppressing tumor cell growth 9606.ENSP00000310263 TNFRSF10D 386 Tumor necrosis factor receptor superfamily member 10D; Receptor for the cytotoxic ligand TRAIL. Contains a truncated death domain and hence is not capable of inducing apoptosis but protects against TRAIL-mediated apoptosis. Reports are contradictory with regards to its ability to induce the NF- kappa-B pathway. According to PubMed:9382840, it cannot but according to PubMed:9430226, it can induce the NF-kappa-B pathway; CD molecules 9606.ENSP00000310275 BANF1 89 Barrier-to-autointegration factor; Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non-specific dsDNA-binding sites which may promote DNA cross-bridging; Belongs to the BAF family 9606.ENSP00000310301 SP3 781 Transcription factor Sp3; Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications. Binds to GT and GC boxes promoter elements. Competes with SP1 for the GC-box promoters. Weak activator of transcription but can activate a number of genes involved in different processes such as cell-cycle regulation, hormone- induction and house-keeping 9606.ENSP00000310303 TOPAZ1 1692 Testis- and ovary-specific PAZ domain-containing protein 1; Testis and ovary specific PAZ domain containing 1 9606.ENSP00000310305 P2RY2 377 P2Y purinoceptor 2; Receptor for ATP and UTP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. The affinity range is UTP = ATP > ATP-gamma-S >> 2-methylthio-ATP = ADP; P2Y receptors 9606.ENSP00000310332 FBXO45 286 F-box/SPRY domain-containing protein 1; Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation; F-boxes other 9606.ENSP00000310335 REP15 236 Rab15 effector protein; Regulates transferrin receptor recycling from the endocytic recycling compartment 9606.ENSP00000310337 OR4S2 311 Olfactory receptor 4S2; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000310338 KIAA1551 1747 Uncharacterized protein KIAA1551; Minor histocompatibility antigens 9606.ENSP00000310356 RMI2 147 RecQ-mediated genome instability protein 2; Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM 9606.ENSP00000310375 MLC1 377 Membrane protein MLC1; Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx 9606.ENSP00000310405 XCR1 333 Chemokine XC receptor 1; Receptor for chemokines SCYC1 and SCYC2. Subsequently transduces a signal by increasing the intracellular calcium ions level. Receptor for XCL1/Lymphotactin; X-C motif chemokine receptors 9606.ENSP00000310406 RIN1 783 Ras and Rab interactor 1; Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation. Can affect Ras signaling at different levels. First, by competing with RAF1 protein for binding to activated Ras. Second, by enhancing signaling from ABL1 and ABL2, which regulate cytoskeletal remodeling. Third, by activating RAB5A, possibly by functioning as a guanine nucleotide exchange factor (GEF) for RAB5A, by exchanging bound GDP for free GTP, and facilitating Ras-activated receptor endocytosis; VPS9 domain containing 9606.ENSP00000310431 LMAN1L 526 Protein ERGIC-53-like; Lectin, mannose binding 1 like 9606.ENSP00000310435 AIM1L 1661 Beta/gamma crystallin domain-containing protein 2; Absent in melanoma 1-like; Belongs to the beta/gamma-crystallin family 9606.ENSP00000310447 GLS2 602 Glutaminase liver isoform, mitochondrial; Plays an important role in the regulation of glutamine catabolism. Promotes mitochondrial respiration and increases ATP generation in cells by catalyzing the synthesis of glutamate and alpha-ketoglutarate. Increases cellular anti-oxidant function via NADH and glutathione production. May play a role in preventing tumor proliferation; Ankyrin repeat domain containing 9606.ENSP00000310448 SART1 800 U4/U6.U5 tri-snRNP-associated protein 1; Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA; Belongs to the SNU66/SART1 family 9606.ENSP00000310459 AKIP1 210 A-kinase-interacting protein 1; Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade 9606.ENSP00000310472 ZNF624 865 Zinc finger protein 624; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000310488 OR7D4 312 Olfactory receptor 7D4; Odorant receptor. Selectively activated by androstenone and the related odorous steroid androstadienone; Olfactory receptors, family 7 9606.ENSP00000310490 SLC16A11 471 Monocarboxylate transporter 11; Proton-linked monocarboxylate transporter. It catalyzes the transport of pyruvate across the plasma membrane. Probably involved in hepatic lipid metabolism: overexpression results in an increase of triacylglycerol(TAG) levels, small increases in intracellular diacylglycerols and decreases in lysophosphatidylcholine, cholesterol ester and sphingomyelin lipids; Solute carriers 9606.ENSP00000310491 ARHGAP1 439 Rho GTPase-activating protein 1; GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate; BCH domain containing 9606.ENSP00000310515 PRM1 51 Sperm protamine P1; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex 9606.ENSP00000310520 ERCC4 916 DNA repair endonuclease XPF; Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link; Belongs to the XPF family 9606.ENSP00000310521 SEC22A 307 Vesicle-trafficking protein SEC22a; May be involved in vesicle transport between the ER and the Golgi complex; SNAREs 9606.ENSP00000310547 ADCK5 580 Uncharacterized aarF domain-containing protein kinase 5; The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) 9606.ENSP00000310551 LCLAT1 414 Lysocardiolipin acyltransferase 1; Acyl-CoA:lysocardiolipin acyltransferase. Possesses both lysophosphatidylinositol acyltransferase (LPIAT) and lysophosphatidylglycerol acyltransferase (LPGAT) activities. Recognizes both monolysocardiolipin and dilysocardiolipin as substrates with a preference for linoleoyl-CoA and oleoyl-CoA as acyl donors. Acts as a remodeling enzyme for cardiolipin, a major membrane polyglycerophospholipid. Converts lysophosphatidic acid (LPA) into phosphatidic acid (PA) with a relatively low activity. Required for establishment of the hematopoietic and endothelial [...] 9606.ENSP00000310557 KCNE3 103 Potassium voltage-gated channel subfamily E member 3; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KC [...] 9606.ENSP00000310561 ARHGAP32 2087 Rho GTPase-activating protein 32; GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity); Belongs to the PX domain-containing GAP family 9606.ENSP00000310565 DSEL 1222 Dermatan-sulfate epimerase-like protein; Dermatan sulfate epimerase like; Belongs to the dermatan-sulfate isomerase family 9606.ENSP00000310572 PSMC5 406 26S proteasome regulatory subunit 8; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with [...] 9606.ENSP00000310573 KRT25 450 Keratin, type I cytoskeletal 25; Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization 9606.ENSP00000310585 PCP2 136 Purkinje cell protein 2 homolog; May function as a cell-type specific modulator for G protein-mediated cell signaling 9606.ENSP00000310593 MAP9 647 Microtubule-associated protein 9; Involved in organization of the bipolar mitotic spindle. Required for bipolar spindle assembly, mitosis progression and cytokinesis. May act by stabilizing interphase microtubules 9606.ENSP00000310594 FNDC9 224 Fibronectin type III domain containing 9 9606.ENSP00000310596 LSM1 133 U6 snRNA-associated Sm-like protein LSm1; Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated. Probably also part of an LSm subunits- containing complex involved in the general process of mRNA degradation (By similarity); Belongs to the snRNP Sm proteins family 9606.ENSP00000310620 SNX32 403 Sorting nexin-32; May be involved in several stages of intracellular trafficking; PX-BAR domain containing 9606.ENSP00000310622 APOBEC4 367 Putative C->U-editing enzyme APOBEC-4; Putative C to U editing enzyme whose physiological substrate is not yet known; Apolipoprotein B mRNA editing enzyme catalytic subunits 9606.ENSP00000310623 ISCU 167 Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; Scaffold protein for the de novo synthesis of iron- sulfur (Fe-S) clusters within mitochondria, which is required for maturation of both mitochondrial and cytoplasmic [2Fe-2S] and [4Fe-4S] proteins. First, a [2Fe-2S] cluster is transiently assembled on the scaffold protein ISCU. In a second step, the cluster is released from ISCU, transferred to a glutaredoxin GLRX5, followed by the formation of mitochondrial [2Fe-2S] proteins, the synthesis of [4Fe-4S] clusters and their target-specific insertion into the recipient apoproteins. [...] 9606.ENSP00000310631 MRGPRD 321 Mas-related G-protein coupled receptor member D; May regulate nociceptor function and/or development, including the sensation or modulation of pain. Functions as a specific membrane receptor for beta-alanine. Beta-alanine at micromolar doses specifically evoked Ca(2+) influx in cells expressing the receptor. Beta-alanine decreases forskolin- stimulated cAMP production in cells expressing the receptor, suggesting that the receptor couples with G-protein G(q) and G(i); G protein-coupled receptors, Class A orphans 9606.ENSP00000310632 OR8S1 359 Olfactory receptor 8S1; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000310649 BRSK1 778 Serine/threonine-protein kinase BRSK1; Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in post-mitotic neurons, leading to down-regulate WEE [...] 9606.ENSP00000310657 NDST2 883 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2; Essential bifunctional enzyme that catalyzes both the N- deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan; Sulfotransferases, membrane bound 9606.ENSP00000310661 PDE7B 450 cAMP-specific 3',5'-cyclic phosphodiesterase 7B; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain; Phosphodiesterases 9606.ENSP00000310668 NUP93 819 Nuclear pore complex protein Nup93; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor nucleoporins, but not NUP153 and TPR, to the NPC. During renal development, regulates podocyte migration and proliferation through SMAD4 signaling 9606.ENSP00000310670 CCAR2 923 Cell cycle and apoptosis regulator protein 2; Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53-mediated apoptosis. Inhibits SUV39H1 methyltransferase activity. As part o [...] 9606.ENSP00000310686 FBXW8 598 F-box/WD repeat-containing protein 8; Substrate-recognition component of a Cul7-RING ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. The Cul7-RING(FBXW8) complex mediates ubiquitination and consequent degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 ki [...] 9606.ENSP00000310688 ABCD2 740 ATP-binding cassette sub-family D member 2; Probable transporter; Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily 9606.ENSP00000310696 B4GALT2 401 Beta-1,4-galactosyltransferase 2; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose; Beta 4-glycosyltransferases 9606.ENSP00000310704 OR10H5 315 Olfactory receptor 10H5; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000310721 CYP7B1 506 25-hydroxycholesterol 7-alpha-hydroxylase; Oxysterol 7alpha-hydroxylase that mediates formation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC) from 25- hydroxycholesterol. Plays a key role in cell positioning and movement in lymphoid tissues: 7-alpha,25- dihydroxycholesterol (7-alpha,25-OHC) acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells (By similarity); Cytochrome P450 family 7 9606.ENSP00000310722 MOS 346 MOS proto-oncogene, serine/threonine kinase 9606.ENSP00000310723 DDX23 820 Probable ATP-dependent RNA helicase DDX23; Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation; DEAD-box helicases 9606.ENSP00000310726 MRPL57 102 Mitochondrial ribosomal protein L57; Belongs to the mitochondrion-specific ribosomal protein mL63 family 9606.ENSP00000310770 GLIPR1L1 233 GLIPR1-like protein 1; Plays a role in the binding between sperm and oocytes. Component of epididymosomes, one type of membranous microvesicules which mediate the transfer of lipids and proteins to spermatozoa plasma membrane during epididymal maturation. Also component of the CD9-positive microvesicules found in the cauda region; GLI pathogenesis related family 1 9606.ENSP00000310773 OR1L1 310 Olfactory receptor 1L1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000310788 OR5J2 312 Olfactory receptor 5J2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000310796 THAP2 228 THAP domain containing 2 9606.ENSP00000310801 LKAAEAR1 240 Protein LKAAEAR1; LKAAEAR motif containing 1 9606.ENSP00000310803 SFT2D3 215 Vesicle transport protein SFT2C; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex 9606.ENSP00000310829 TTC18 1121 Cilia- and flagella-associated protein 70; Tetratricopeptide repeat domain 18; Belongs to the CFAP70 family 9606.ENSP00000310832 CTSF 484 Cathepsin F; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis; Cathepsins 9606.ENSP00000310841 FBXO31 539 F-box only protein 31; Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor; Belongs to the FBXO31 family 9606.ENSP00000310842 FANCI 1328 Fanconi anemia group I protein; Plays an essential role in the repair of DNA double- strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single- stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage; Fanconi anemia complementation groups 9606.ENSP00000310856 VN1R4 301 Vomeronasal type-1 receptor 4; Putative pheromone receptor; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000310861 KRT2 639 Keratin, type II cytoskeletal 2 epidermal; Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization; Keratins, type II 9606.ENSP00000310873 COQ2 421 4-hydroxybenzoate polyprenyltransferase, mitochondrial; Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate 9606.ENSP00000310880 MAL 153 Myelin and lymphocyte protein; Could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function; Belongs to the MAL family 9606.ENSP00000310901 CSRP2 193 Cysteine and glycine-rich protein 2; Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation. Seems to play a role in the development of the embryonic vascular system; LIM domain containing 9606.ENSP00000310928 PPARD 441 Peroxisome proliferator-activated receptor delta; Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand; Belongs to the nuclear hormone [...] 9606.ENSP00000310933 MADD 1647 MAP kinase-activating death domain protein; Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is res [...] 9606.ENSP00000310978 PHYKPL 450 5-phosphohydroxy-L-lysine phospho-lyase; Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde 9606.ENSP00000310998 NAGPA 515 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase; Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P- mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N- acetylglucosaminyltransferases 9606.ENSP00000311005 MAPK7 816 Mitogen-activated protein kinase 7; Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream targets including MEF2C. EGF activates MAPK7 through a Ras- independent and MAP2K5-dependent pathway. May have a role in muscle cell differentiation. May be important for endothelial function and maintenance of blood vessel integrity. MAP2K5 and MAPK7 interact specifically with one another and not with MEK1/E [...] 9606.ENSP00000311010 ELF5 265 ETS-related transcription factor Elf-5; Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation; Belongs to the ETS family 9606.ENSP00000311030 ABCC12 1359 Multidrug resistance-associated protein 9; Probable transporter; ATP binding cassette subfamily C 9606.ENSP00000311032 CASP3 277 Caspase-3; Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop- helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage 9606.ENSP00000311035 CD200R1 348 Cell surface glycoprotein CD200 receptor 1; Inhibitory receptor for the CD200/OX2 cell surface glycoprotein. Limits inflammation by inhibiting the expression of proinflammatory molecules including TNF-alpha, interferons, and inducible nitric oxide synthase (iNOS) in response to selected stimuli. Also binds to HHV-8 K14 viral CD200 homolog with identical affinity and kinetics as the host CD200; Belongs to the CD200R family 9606.ENSP00000311038 OR6M1 313 Olfactory receptor 6M1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000311083 CKS1B 79 Cyclin-dependent kinases regulatory subunit 1; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function 9606.ENSP00000311095 CYP4A11 519 Cytochrome P450 4A11; Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate, myristate and palmitate. Has little activity toward prostaglandins A1 and E1. Oxidizes arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE); Cytochrome P450 family 4 9606.ENSP00000311121 PSMA8 256 Proteasome subunit alpha type-7-like; Component of the spermatoproteasome, a form of the proteasome specifically found in testis that promotes degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (By similarity) 9606.ENSP00000311122 TMEM52 209 Transmembrane protein 52 9606.ENSP00000311127 VEGFB 207 Vascular endothelial growth factor B; Growth factor for endothelial cells. VEGF-B167 binds heparin and neuropilin-1 whereas the binding to neuropilin-1 of VEGF-B186 is regulated by proteolysis 9606.ENSP00000311135 DHX37 1157 Probable ATP-dependent RNA helicase DHX37; DEAH-box helicase 37 9606.ENSP00000311165 AQP1 269 Aquaporin-1; Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient; Aquaporins 9606.ENSP00000311183 ZNF497 498 Zinc finger protein 497; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000311184 WFIKKN2 576 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2; Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity); Belongs to the WFIKKN family 9606.ENSP00000311196 NPAS4 802 Neuronal PAS domain-containing protein 4; Transcription factor expressed in neurons of the brain that regulates the excitatory-inhibitory balance within neural circuits and is required for contextual memory in the hyppocampus (By similarity). Plays a key role in the structural and functional plasticity of neurons (By similarity). Acts as an early-response transcription factor in both excitatory and inhibitory neurons, where it induces distinct but overlapping sets of late-response genes in these two types of neurons, allowing the synapses that form on inhibitory and excitatory neurons [...] 9606.ENSP00000311218 C1orf100 147 Uncharacterized protein C1orf100; Chromosome 1 open reading frame 100 9606.ENSP00000311219 TRIM59 403 Tripartite motif-containing protein 59; May serve as a multifunctional regulator for innate immune signaling pathways; Ring finger proteins 9606.ENSP00000311221 ZMAT3 289 Zinc finger matrin-type protein 3; Acts as a bona fide target gene of p53/TP53. May play a role in the TP53-dependent growth regulatory pathway. May contribute to TP53-mediated apoptosis by regulation of TP53 expression and translocation to the nucleus and nucleolus; Zinc fingers matrin-type 9606.ENSP00000311224 ACOT1 421 Acyl-coenzyme A thioesterase 1; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active towards fatty acyl-CoA with chain-lengths of C12-C16 (By similarity) 9606.ENSP00000311257 STOX2 926 Storkhead-box protein 2; Storkhead box 2 9606.ENSP00000311273 DNAH7 4024 Dynein heavy chain 7, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity); Dyneins, axonemal 9606.ENSP00000311280 ELF4 663 ETS-related transcription factor Elf-4; Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Also transactivates the PRF1 promoter in natural killer (NK) cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By simi [...] 9606.ENSP00000311290 PROP1 226 Homeobox protein prophet of Pit-1; Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes; PRD class homeoboxes and pseudogenes 9606.ENSP00000311291 SLCO2A1 643 Solute carrier organic anion transporter family member 2A1; May mediate the release of newly synthesized prostaglandins from cells, the transepithelial transport of prostaglandins, and the clearance of prostaglandins from the circulation. Transports PGD2, as well as PGE1, PGE2 and PGF2A; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000311300 CTSW 376 Cathepsin W; May have a specific function in the mechanism or regulation of T-cell cytolytic activity; Cathepsins 9606.ENSP00000311313 CST6 149 Cystatin-M; Shows moderate inhibition of cathepsin B but is not active against cathepsin C; Belongs to the cystatin family 9606.ENSP00000311318 ATG4D 474 Cysteine protease ATG4D; Cysteine protease ATG4D: Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms; Belongs to the peptidase C54 family 9606.ENSP00000311319 ZNF417 575 Zinc finger protein 417; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000311336 ATP8B3 1300 Phospholipid-transporting ATPase IK; P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida; Belon [...] 9606.ENSP00000311343 WDR49 697 WD repeat-containing protein 49; WD repeat domain containing 9606.ENSP00000311344 PPP2R1B 667 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform; The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit; Armadillo-like helical domain containing 9606.ENSP00000311360 RAD9A 391 Cell cycle checkpoint control protein RAD9A; Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN [...] 9606.ENSP00000311364 MUCL1 90 Mucin-like protein 1; May play a role as marker for the diagnosis of metastatic breast cancer 9606.ENSP00000311368 POLD4 107 DNA polymerase delta subunit 4; As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3' to 5' exonuclease activity. Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system. Under conditions of DNA replication stress, required for the repair of broken replication forks through break- induced replication (B [...] 9606.ENSP00000311398 RNASE8 154 Ribonuclease 8; Has a low ribonuclease activity 9606.ENSP00000311399 DSCR3 297 Down syndrome critical region gene 3; Belongs to the VPS26 family 9606.ENSP00000311401 DENND6A 608 Protein DENND6A; Guanine nucleotide exchange factor (GEF) for RAB14. Component of an endocytic recycling pathway that is required for the control of ADAM10 transport, shedding of N-cadherin/CDH2 by ADAM9 or ADAM10 and regulation of cell-cell junctions. Required for RAB14 recruitment to recycling endosomes; DENN/MADD domain containing 9606.ENSP00000311405 ADCY6 1168 Adenylate cyclase type 6; Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors. Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells. Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the [...] 9606.ENSP00000311427 SNX33 574 Sorting nexin-33; Plays a role in the reorganization of the cytoskeleton, endocytosis and cellular vesicle trafficking via its interactions with membranes, WASL, DNM1 and DNM2. Acts both during interphase and at the end of mitotic cell divisions. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Modulates endocytosis of cell-surface proteins, such as APP and PRNP; this then modulates the secretion of APP and PRNP peptides. Promotes membrane tubulation (in vitro). May promote the formation of macr [...] 9606.ENSP00000311429 ZWILCH 591 Protein zwilch homolog; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex; Belongs to the ZWILCH family 9606.ENSP00000311430 RPL4 427 L ribosomal proteins 9606.ENSP00000311436 ABRA 381 Actin-binding Rho-activating protein; Acts as an activator of serum response factor (SRF)- dependent transcription possibly by inducing nuclear translocation of MKL1 or MKL2 and through a mechanism requiring Rho-actin signaling 9606.ENSP00000311447 ASPHD1 390 Aspartate beta-hydroxylase domain containing 1 9606.ENSP00000311449 RAB6A 208 Ras-related protein Rab-6A; Protein transport. Regulator of membrane traffic from the Golgi apparatus towards the endoplasmic reticulum (ER). Has a low GTPase activity. Involved in COPI-independent retrograde transport from the Golgi to the ER; RAB, member RAS oncogene GTPases 9606.ENSP00000311453 PDE8A 829 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in maintaining basal levels of the cyclic nucleotide and/or in the cAMP regulation of germ cell development. Binding to RAF1 reduces RAF1 'Ser- 259' inhibitory-phosphorylation and stimulates RAF1-dependent EGF- activated ERK-signaling. Protects against cell death induced by hydrogen peroxide and staurosporine; Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily 9606.ENSP00000311469 GSTM1 218 Glutathione S-transferase Mu 1; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles; Soluble glutathione S-transferases 9606.ENSP00000311477 OR10AG1 301 Olfactory receptor 10AG1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000311479 C11orf86 115 Uncharacterized protein C11orf86; Chromosome 11 open reading frame 86 9606.ENSP00000311486 C12orf66 468 KICSTOR complex protein C12orf66; As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose 9606.ENSP00000311492 ISX 245 Intestine-specific homeobox; Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 expression in the intestine (By similarity); PRD class homeoboxes and pseudogenes 9606.ENSP00000311500 MZT2A 158 Mitotic spindle organizing protein 2A; Belongs to the MOZART2 family 9606.ENSP00000311502 HEG1 1381 Protein HEG homolog 1; Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions 9606.ENSP00000311505 IQCB1 598 IQ calmodulin-binding motif-containing protein 1; Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6; Armadillo-like helical domain containing 9606.ENSP00000311513 RSF1 1441 Remodeling and spacing factor 1; Required for assembly of regular nucleosome arrays by the RSF chromatin-remodeling complex. Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. In case of infection by HBV, together with pX, it represses TNF-alpha induced NF-kappa-B transcription activation. Represses transcription when artificially recruited to chromatin by fusion to a heterogeneous DNA binding domain; PHD finger proteins 9606.ENSP00000311521 ZNF490 529 Zinc finger protein 490; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000311528 GPR162 588 Probable G-protein coupled receptor 162; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000311538 ARR3 388 Arrestin-C; May play a role in an as yet undefined retina-specific signal transduction. Could binds to photoactivated-phosphorylated red/green opsins; Classical arrestins 9606.ENSP00000311545 EMR1 886 Adhesion G protein-coupled receptor E1; Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development 9606.ENSP00000311579 TNKS 1327 Tankyrase-1; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates PARsylation of TERF1, the [...] 9606.ENSP00000311605 OR4B1 309 Olfactory receptor 4B1; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000311609 SPSB4 273 SPRY domain-containing SOCS box protein 4; Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the SPSB family 9606.ENSP00000311648 UGT8 541 2-hydroxyacylsphingosine 1-beta-galactosyltransferase; Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000311657 GRAMD2 354 GRAM domain-containing protein 2A; GRAM domain containing 2 9606.ENSP00000311665 PAAF1 392 Proteasomal ATPase-associated factor 1; Inhibits proteasome 26S assembly and proteolytic activity by impairing the association of the 19S regulatory complex with the 20S core. In case of HIV-1 infection, recruited by viral Tat to the HIV-1 promoter, where it promotes the recruitment of 19S regulatory complex through dissociation of the proteasome 26S. This presumably promotes provirus transcription efficiency. Protects SUPT6H from proteasomal degradation; WD repeat domain containing 9606.ENSP00000311677 PPP1R8 351 Nuclear inhibitor of protein phosphatase 1; Inhibitor subunit of the major nuclear protein phosphatase-1 (PP-1). It has RNA-binding activity but does not cleave RNA and may target PP-1 to RNA-associated substrates. May also be involved in pre-mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation 9606.ENSP00000311679 ZNF483 744 Zinc finger protein 483; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000311684 SPEG 3267 Striated muscle preferentially expressed protein kinase; Isoform 3 may have a role in regulating the growth and differentiation of arterial smooth muscle cells; I-set domain containing 9606.ENSP00000311687 NIPAL4 466 Magnesium transporter NIPA4; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway 9606.ENSP00000311688 OR1S1 325 Olfactory receptor 1S1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000311695 CCDC85B 202 Coiled-coil domain-containing protein 85B; Functions as a transcriptional repressor. May inhibit the activity of CTNNB1 in a TP53- dependent manner and thus regulate cell growth. May function in adipocyte differentiation, negatively regulating mitotic clonal expansion (By similarity) 9606.ENSP00000311697 FGF5 268 Fibroblast growth factor 5; Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase (By similarity); Endogenous ligands 9606.ENSP00000311712 RTP1 263 Receptor-transporting protein 1; Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs; Belongs to the TMEM7 family 9606.ENSP00000311713 OXSR1 527 Serine/threonine-protein kinase OSR1; Regulates downstream kinases in response to environmental stress. May also have a function in regulating the actin cytoskeleton; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily 9606.ENSP00000311733 CMKLR1 373 Chemokine-like receptor 1; Receptor for the chemoattractant adipokine chemerin/RARRES2 and for the omega-3 fatty acid derived molecule resolvin E1. Interaction with RARRES2 induces activation of intracellular signaling molecules, such as SKY, MAPK1/3 (ERK1/2), MAPK14/P38MAPK and PI3K leading to multifunctional effects, like, reduction of immune responses, enhancing of adipogenesis and angionesis. Resolvin E1 down-regulates cytokine production in macrophages by reducing the activation of MAPK1/3 (ERK1/2) and NF- kappa-B. Positively regulates adipogenesis and adipocyte metabolism. Acts a [...] 9606.ENSP00000311746 KLK10 276 Kallikrein-10; Has a tumor-suppressor role for NES1 in breast and prostate cancer; Belongs to the peptidase S1 family. Kallikrein subfamily 9606.ENSP00000311747 RBM14 669 RNA-binding protein 14; Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Isoform 2, functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1. Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) [...] 9606.ENSP00000311760 TTC9B 239 Tetratricopeptide repeat domain containing 9606.ENSP00000311766 ATAD3B 648 ATPase family AAA domain-containing protein 3B; May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. may act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes; AAA ATPases 9606.ENSP00000311778 ZMIZ2 920 Zinc finger MIZ domain-containing protein 2; Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors; Zinc fingers MIZ-type 9606.ENSP00000311816 REST 1097 RE1-silencing transcription factor; Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells. Restricts the expression of neuronal genes by associating with two distinct corepressors, mSin3 and CoREST, which in turn recruit histone deacetylase to the promoters of REST-regulated genes. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. Transcriptional repression by REST-C [...] 9606.ENSP00000311825 CTBP2 985 C-terminal-binding protein 2; Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity) 9606.ENSP00000311827 MSL2 577 E3 ubiquitin-protein ligase MSL2; Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at lysine 16 which is implicated in the formation of higher-order chromatin structure. Acts as an E3 ubiquitin ligase that promotes monoubiquitination of histone H2B at 'Lys-35' (H2BK34Ub), but not that of H2A. This activity is greatly enhanced by heterodimerization with MSL1. H2B ubiquitination in turn stimulates histine H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1 9606.ENSP00000311833 SLC37A2 505 Glucose-6-phosphate exchanger SLC37A2; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6- phosphatase. May not play a role in homeostatic regulation of blood glucose levels; Solute carriers 9606.ENSP00000311837 SNTG2 539 Gamma-2-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity); Belongs to the syntrophin family 9606.ENSP00000311857 PTPN2 415 Tyrosine-protein phosphatase non-receptor type 2; Non-receptor type tyrosine-specific phosphatase that dephosphorylates receptor protein tyrosine kinases including INSR, EGFR, CSF1R, PDGFR. Also dephosphorylates non-receptor protein tyrosine kinases like JAK1, JAK2, JAK3, Src family kinases, STAT1, STAT3 and STAT6 either in the nucleus or the cytoplasm. Negatively regulates numerous signaling pathways and biological processes like hematopoiesis, inflammatory response, cell proliferation and differentiation, and glucose homeostasis. Plays a multifaceted and important role in the develop [...] 9606.ENSP00000311862 MS4A10 267 Membrane-spanning 4-domains subfamily A member 10; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000311899 DAW1 415 Dynein assembly factor with WDR repeat domains 1; May play a role in axonemal outer row dynein assembly; Belongs to the WD repeat WDR69 family 9606.ENSP00000311905 LTBP4 1624 Latent-transforming growth factor beta-binding protein 4; May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM) (By similarity); Belongs to the LTBP family 9606.ENSP00000311957 ZNF738 137 Protein ZNF738; May be involved in transcriptional regulation 9606.ENSP00000311962 GGA2 613 ADP-ribosylation factor-binding protein GGA2; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif 9606.ENSP00000311977 DUS3L 650 tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs 9606.ENSP00000311984 CARKD 390 ATP-dependent (S)-NAD(P)H-hydrate dehydratase; Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration; Belongs to the NnrD/CARKD family 9606.ENSP00000311997 NEFH 1020 Neurofilament heavy polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins 9606.ENSP00000312002 HAVCR2 301 Hepatitis A virus cellular receptor 2; Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or the respective ligand. Regulates macrophage activation. Inhibits T-helper type 1 lymphocyte (Th1)-mediated auto- and alloimmune responses and promotes immunological tolerance. In CD8+ cells attenuates TCR-induced signaling, specifically by blocking NF- kappaB and NFAT promoter activities resulting in the los [...] 9606.ENSP00000312017 FAM57A 257 Protein FAM57A; Family with sequence similarity 57 member A; TLC domain containing 9606.ENSP00000312021 FUT1 365 Galactoside 2-alpha-L-fucosyltransferase 1; Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway; Blood group antigens 9606.ENSP00000312027 CD7 240 T-cell antigen CD7; Not yet known; CD molecules 9606.ENSP00000312029 UCP2 309 Mitochondrial uncoupling protein 2; UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000312066 SRP68 627 Signal recognition particle subunit SRP68; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP68 binds the 7S RNA, SRP72 binds to this complex subsequently. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function 9606.ENSP00000312070 PCDHGC3 934 Protocadherin gamma-C3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000312081 SSH3 659 Protein phosphatase Slingshot homolog 3; Protein phosphatase which may play a role in the regulation of actin filament dynamics. Can dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly (By similarity); Slingshot protein phosphatases 9606.ENSP00000312082 TLR8 1059 Toll-like receptor 8; Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response; CD molecules 9606.ENSP00000312107 UBXN2A 259 UBX domain-containing protein 2A; UBX domain containing 9606.ENSP00000312126 ADCY4 1077 Adenylate cyclase type 4; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling; Adenylate cyclases 9606.ENSP00000312129 KCNG4 519 Potassium voltage-gated channel subfamily G member 4; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1; Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.4/KCNG4 sub-subfamily 9606.ENSP00000312134 PRG2 222 Bone marrow proteoglycan; Cytotoxin and helminthotoxin. Also induces non-cytolytic histamine release from human basophils. Involved in antiparasitic defense mechanisms and immune hypersensitivity reactions. The proform acts as a proteinase inhibitor, reducing the activity of PAPPA; C-type lectin domain containing 9606.ENSP00000312141 ZNF654 581 Zinc finger protein 654; May be involved in transcriptional regulation 9606.ENSP00000312143 TNS3 1445 Tensin-3; May play a role in actin remodeling. Involved in the dissociation of the integrin-tensin-actin complex. EGF activates TNS4 and down-regulates TNS3 which results in capping the tail of ITGB1. Seems to be involved in mammary cell migration. May be involved in cell migration and bone development (By similarity); C2 tensin-type domain containing 9606.ENSP00000312150 TRIB1 372 Tribbles homolog 1; Adapter protein involved in protein degradation by interacting with RFWD2/COP1 ubiquitin ligase. The RFWD2-binding motif is masked by autoinhibitory interactions with the protein kinase domain. Serves to alter RFWD2 substrate specificity by directing the activity of RFWD2 toward CEBPA. Binds selectively the recognition sequence of CEBPA. Regulates myeloid cell differentiation by altering the expression of CEBPA in a RFWD2- dependent manner (By similarity). Controls macrophage, eosinophil and neutrophil differentiation via the COP1-binding domain (By similarity). Int [...] 9606.ENSP00000312158 BTN2A1 527 Butyrophilin subfamily 2 member A1; Butyrophilins 9606.ENSP00000312185 ELMO1 727 Engulfment and cell motility protein 1; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 9606.ENSP00000312208 OR5M3 307 Olfactory receptor 5M3; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000312222 ZHX3 956 Zinc fingers and homeoboxes protein 3; Acts as a transcriptional repressor. Involved in the early stages of mesenchymal stem cell (MSC) osteogenic differentiation. Is a regulator of podocyte gene expression during primary glomerula disease. Binds to promoter DNA; ZF class homeoboxes and pseudogenes 9606.ENSP00000312224 DTD2 168 Putative D-tyrosyl-tRNA(Tyr) deacylase 2; May D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). Could be a defense mechanism against a harmful effect of D-tyrosine (Potential) 9606.ENSP00000312244 MSL3 521 Male-specific lethal 3 homolog; May be involved in chromatin remodeling and transcriptional regulation. May have a role in X inactivation. Component of the MSL complex which is responsible for the majority of histone H4 acetylation at 'Lys-16' which is implicated in the formation of higher-order chromatin structure. Specifically recognizes histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex 9606.ENSP00000312250 ADPGK 496 ADP-dependent glucokinase; Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor. GDP and CDP can replace ADP, but with reduced efficiency (By similarity) 9606.ENSP00000312262 ADRBK1 689 Beta-adrenergic receptor kinase 1; Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors, probably inducing a desensitization of them. Key regulator of LPAR1 signaling. Competes with RALA for binding to LPAR1 thus affecting the signaling properties of the receptor. Desensitizes LPAR1 and LPAR2 in a phosphorylation-independent manner; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily 9606.ENSP00000312272 YPEL2 119 Protein yippee-like 2; Yippee like family 9606.ENSP00000312273 LGI4 537 Leucine rich repeat LGI family member 4 9606.ENSP00000312277 ZNF507 953 Zinc finger protein 507; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000312284 SPESP1 350 Sperm equatorial segment protein 1; Involved in fertilization ability of sperm; Belongs to the SPESP1 family 9606.ENSP00000312286 PLA2G1B 148 Phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides, this releases glycerophospholipids and arachidonic acid that serve as the precursors of signal molecules; Belongs to the phospholipase A2 family 9606.ENSP00000312293 MOBP 206 Myelin-associated oligodendrocyte basic protein 9606.ENSP00000312299 FRG2C 282 Protein FRG2-like-2; FSHD region gene 2 family member C 9606.ENSP00000312304 TPMT 245 Thiopurine S-methyltransferase; Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine; Belongs to the class I-like SAM-binding methyltransferase superfamily. TPMT family 9606.ENSP00000312311 MRPL46 279 Mitochondrial ribosomal protein L46; Belongs to the mitochondrion-specific ribosomal protein mL46 family 9606.ENSP00000312318 SSSCA1 199 Sjoegren syndrome/scleroderma autoantigen 1; Might play a role in mitosis. Antigenic molecule. Could be a centromere-associated protein. May induce anti-centromere antibodies 9606.ENSP00000312326 AOC3 763 Membrane primary amine oxidase; Cell adhesion protein that participates in lymphocyte extravasation and recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion. Has semicarbazide-sensitive (SSAO) monoamine oxidase activity. May play a role in adipogenesis 9606.ENSP00000312356 TRMT10C 403 tRNA methyltransferase 10 homolog C; Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation. Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP3, which cleaves tRNA molecules in their 5'-ends. Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity. The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)- methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1 [...] 9606.ENSP00000312367 CD84 345 SLAM family member 5; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Can mediate natural killer (NK) cell cytotoxicity dependent on SH2D1A and SH2D1B (By similarity). Increa [...] 9606.ENSP00000312368 SNX31 440 Sorting nexin-31; May be involved in protein trafficking; Sorting nexins 9606.ENSP00000312379 KMT2E 1858 Histone-lysine N-methyltransferase 2E; Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and H3K4me2). H3 'Lys- 4' methylation represents a specific tag for epigenetic transcriptional activation. Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation. Plays an essential role in retinoic- acid-induced granulopoiesis by acting as a coactivator of RAR- alpha (RARA) in target gene promoters. Also acts as an im [...] 9606.ENSP00000312385 EVX2 476 Homeobox even-skipped homolog protein 2; HOXL subclass homeoboxes; Belongs to the even-skipped homeobox family 9606.ENSP00000312397 KLHL3 587 Kelch-like protein 3; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation. The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney (By similarity); BTB domain containing 9606.ENSP00000312399 CCDC63 563 Coiled-coil domain-containing protein 63; Plays a role in spermiogenesis. Involved in the elongation of flagella and the formation of sperm heads 9606.ENSP00000312403 OR2Y1 311 Olfactory receptor 2Y1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000312411 PPM1E 755 Protein phosphatase 1E; Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2 (By similarity). Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2 (By similarity); Protein phosphatases, Mg2+/Mn2+ dependent 9606.ENSP00000312415 SSX5 229 Synovial sarcoma, X breakpoint 5; SSX family member 5 9606.ENSP00000312439 RNF26 433 E3 ubiquitin-protein ligase RNF26; E3 ubiquitin-protein ligase that plays a key role in endosome organization by retaining vesicles in the perinuclear cloud. Acts as a platform for perinuclear positioning of the endosomal system by mediating ubiquitination of SQSTM1. Ubiquitinated SQSTM1 attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport. Also acts as a regulator of type I interferon production in response to viral infection by mediating the [...] 9606.ENSP00000312442 AP1G2 785 AP-1 complex subunit gamma-like 2; May function in protein sorting in late endosomes or multivesucular bodies (MVBs). Involved in MVB-assisted maturation of hepatitis B virus (HBV); Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing 9606.ENSP00000312455 CFLAR 480 CASP8 and FADD-like apoptosis regulator; Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signaling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity; Belongs to the peptidase C14A family 9606.ENSP00000312457 BAALC 145 Brain and acute leukemia, cytoplasmic; BAALC, MAP3K1 and KLF4 binding 9606.ENSP00000312458 ARV1 271 Protein ARV1; Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis. Participates in sterol transport out of the ER and distribution into plasma membranes 9606.ENSP00000312470 OR10A6 314 Olfactory receptor 10A6; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000312506 CSPG4 2322 Chondroitin sulfate proteoglycan 4; Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N- terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma c [...] 9606.ENSP00000312535 LRFN4 635 Leucine-rich repeat and fibronectin type-III domain-containing protein 4; Promotes neurite outgrowth in hippocampal neurons. May play a role in redistributing DLG4 to the cell periphery (By similarity); Belongs to the LRFN family 9606.ENSP00000312554 DNAH12 457 Dynein axonemal heavy chain 12 9606.ENSP00000312587 COQ10A 247 Coenzyme Q-binding protein COQ10 homolog A, mitochondrial; Required for the function of coenzyme Q in the respiratory chain. May serve as a chaperone or may be involved in the transport of Q6 from its site of synthesis to the catalytic sites of the respiratory complexes (Probable); Belongs to the COQ10 family 9606.ENSP00000312599 TMEM70 260 Transmembrane protein 70, mitochondrial; Involved in biogenesis of mitochondrial ATP synthase; Belongs to the TMEM70 family 9606.ENSP00000312615 TMEM134 195 Transmembrane protein 134 9606.ENSP00000312618 ACAD9 621 Acyl-CoA dehydrogenase family member 9, mitochondrial; Required for mitochondrial complex I assembly. Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. However, it does not play a primary role in long-chain fatty acid oxidation in vivo. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0); Belongs to the acyl-CoA dehydrogenase family 9606.ENSP00000312624 TCAP 167 Telethonin; Muscle assembly regulating factor. Mediates the antiparallel assembly of titin (TTN) molecules at the sarcomeric Z-disk 9606.ENSP00000312625 HP1BP3 553 Heterochromatin protein 1-binding protein 3; Component of heterochromatin that maintains heterochromatin integrity during G1/S progression and regulates the duration of G1 phase to critically influence cell proliferative capacity. Mediates chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo-resistance and self- renewal 9606.ENSP00000312631 INSM1 510 Insulinoma-associated protein 1; Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates skeletal muscle- specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses ta [...] 9606.ENSP00000312634 PDLIM2 602 PDZ and LIM domain protein 2; Probable adapter protein located at the actin cytoskeleton that promotes cell attachment. Necessary for the migratory capacity of epithelial cells. Overexpression enhances cell adhesion to collagen and fibronectin and suppresses anchorage independent growth. May contribute to tumor cell migratory capacity; LIM domain containing 9606.ENSP00000312649 PPARGC1B 1023 Peroxisome proliferator-activated receptor gamma coactivator 1-beta; Plays a role of stimulator of transcription factors and nuclear receptors activities. Activates transcriptional activity of estrogen receptor alpha, nuclear respiratory factor 1 (NRF1) and glucocorticoid receptor in the presence of glucocorticoids. May play a role in constitutive non-adrenergic-mediated mitochondrial biogenesis as suggested by increased basal oxygen consumption and mitochondrial number when overexpressed. May be involved in fat oxidation and non-oxidative glucose metabolism and in the regulation of en [...] 9606.ENSP00000312652 LEP 167 Leptin; Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways. In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal met [...] 9606.ENSP00000312663 CHRNA9 479 Neuronal acetylcholine receptor subunit alpha-9; Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding induces a conformation change that leads to the opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This ma [...] 9606.ENSP00000312664 CASP2 452 Caspase-2; Involved in the activation cascade of caspases responsible for apoptosis execution. Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival; Caspase recruitment domain containing 9606.ENSP00000312671 EHBP1L1 1523 EH domain-binding protein 1-like protein 1; May act as Rab effector protein and play a role in vesicle trafficking; NT-C2 domain containing 9606.ENSP00000312672 TMEM136 267 Transmembrane protein 136; Belongs to the TMEM136 family 9606.ENSP00000312673 GH1 217 Somatotropin; Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues; Endogenous ligands 9606.ENSP00000312675 TRIM72 477 Tripartite motif-containing protein 72; Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-depend [...] 9606.ENSP00000312678 MID1 667 E3 ubiquitin-protein ligase Midline-1; Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination; Belongs to the TRIM/RBCC family 9606.ENSP00000312700 B3GNT8 397 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8; Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N-glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans; Belongs to the glycosyltransferase 31 family 9606.ENSP00000312702 DEFB114 69 Beta-defensin 114; Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS- induced reduction of sperm motility in vitro and may protect from LPS-induced lethality; Defensins, beta 9606.ENSP00000312706 CCDC65 484 Coiled-coil domain-containing protein 65; May play a role in motile cilia function, possibly by acting on the assembly of the nexin-dynein regulatory complex; Belongs to the CCDC65 family 9606.ENSP00000312709 TAF7 349 Transcription initiation factor TFIID subunit 7; Functions as a component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively); Belongs to the TAF7 family 9606.ENSP00000312734 RAB8B 207 Ras-related protein Rab-8B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may be involved in polarized vesicular trafficking and neurotransmitter release. May participate in cell junction dynamics in Sertoli cells (By similarity); RAB, member RAS on [...] 9606.ENSP00000312741 CAMKK2 588 Calcium/calmodulin-dependent protein kinase kinase 2; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Isoform 1, isoform 2 and isoform 3 phosphorylate CAMK1 and CAMK4. Isoform 3 phosphorylates CAMK1D. Isoform 4, isoform 5 and isoform 6 lacking part of the calmodulin- binding domain are inactive. Efficiently phosphorylates 5'-AMP- activated protein kinase (AMPK) trimer, including that consisting of PRKAA1, PRKAB1 and PRKAG1. This phosphorylation is stimulated in response to Ca(2+) signals [...] 9606.ENSP00000312753 FAM109B 259 Sesquipedalian-2; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane; Belongs to the sesquipedalian family 9606.ENSP00000312767 KIAA1731NL 621 CEP295 N-terminal-like protein; KIAA1731 N-terminal like 9606.ENSP00000312770 C2orf69 385 UPF0565 protein C2orf69; Chromosome 2 open reading frame 69 9606.ENSP00000312774 SPACA4 124 Sperm acrosome membrane-associated protein 4; Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization; LY6/PLAUR domain containing 9606.ENSP00000312778 IFT80 777 Intraflagellar transport protein 80 homolog; Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia 9606.ENSP00000312811 KCNK10 543 Potassium channel subfamily K member 10; Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents. Activated by arachidonic acid and other naturally occurring unsaturated free fatty acids; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family 9606.ENSP00000312814 KCTD2 263 BTB/POZ domain-containing protein KCTD2; Potassium channel tetramerization domain containing 2 9606.ENSP00000312834 MLXIP 919 MLX-interacting protein; Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation; Basic helix-loop-helix proteins 9606.ENSP00000312942 SEZ6 994 Seizure protein 6 homolog; May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity); Belongs to the SEZ6 family 9606.ENSP00000312946 STAB1 2570 Stabilin-1; Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system 9606.ENSP00000312981 USP39 565 U4/U6.U5 tri-snRNP-associated protein 2; Plays a role in pre-mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. Regulates AURKB mRNA levels, and thereby plays a role in cytokinesis and in the spindle checkpoint. Does not have ubiquitin-specific peptidase activity, but could be a competitor of ubiquitin C-terminal hydrolases (UCHs) 9606.ENSP00000312987 HNF4A 474 Hepatocyte nuclear factor 4-alpha; Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1- antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1- alpha. May be essential for development of the liver, kidney and intestine; Nuclear hormone receptors 9606.ENSP00000312988 NFKBIB 356 NF-kappa-B inhibitor beta; Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. However, the unphosphorylated form resynthesized after cell stimulation is able to bind NF-kappa-B allowing its transport to the nucleus and protecting it to further NFKBIA- dependent inactivation. Association with inhibitor kappa B- interacting NKIRAS1 and NKIRAS2 prevent its phosphorylation rendering it more resistant to degradation, explaining its slower degradation; Ankyrin repeat domain containing 9606.ENSP00000312995 CLSPN 1339 Claspin; Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation. Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR- dependent phosphorylation of both proteins. Can also bind specifically to branched DNA structures and may associate with S- phase chromatin following formation of the pre-replication complex (pre-RC). This may indicate a role for this protein as a sensor which monitors the integrity of DNA replication forks 9606.ENSP00000312999 GNAI2 355 Guanine nucleotide-binding protein G(i) subunit alpha-2; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. May play a role in cell division 9606.ENSP00000313007 PABPC1 636 Polyadenylate-binding protein 1; Binds the poly(A) tail of mRNA, including that of its own transcript. May be involved in cytoplasmic regulatory processes of mRNA metabolism such as pre-mRNA splicing. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Involved in translationally coupled mRNA turnover. Implicated with other RNA- binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding- r [...] 9606.ENSP00000313034 FBXW5 566 F-box/WD repeat-containing protein 5; Substrate recognition component of both SCF (SKP1-CUL1- F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication. The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes re [...] 9606.ENSP00000313050 GBAS 286 Protein NipSnap homolog 2; May act as a positive regulator of L-type calcium channels; Belongs to the NipSnap family 9606.ENSP00000313079 SHISA2 295 Protein shisa-2 homolog; Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling; Shisa family members 9606.ENSP00000313088 NETO1 533 Neuropilin and tolloid-like protein 1; Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D- aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A-containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory (By similarity) 9606.ENSP00000313110 OR6S1 331 Olfactory receptor 6S1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000313121 SNX14 946 Sorting nexin-14; Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes. Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)); Sorting nexins 9606.ENSP00000313140 EXD2 621 Exonuclease 3'-5' domain-containing protein 2; Exonuclease required for double-strand breaks resection and efficient homologous recombination. Plays a key role in controlling the initial steps of chromosomal break repair, it is recruited to chromatin in a damage-dependent manner and functionally interacts with the MRN complex to accelerate resection through its 3'-5' exonuclease activity, which efficiently processes double-stranded DNA substrates containing nicks; Belongs to the EXD2 family 9606.ENSP00000313158 ZNF366 744 Zinc finger protein 366; Has transcriptional repression activity. Acts as corepressor of ESR1; the function seems to involve CTBP1 and histone deacetylases; Zinc fingers C2H2-type 9606.ENSP00000313159 FBXO34 711 F-box only protein 34; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000313169 NPHP1 733 Nephrocystin-1; Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photorec [...] 9606.ENSP00000313171 ATAD5 1844 ATPase family AAA domain-containing protein 5; Involved in DNA damage response. Involved in a RAD9A- related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages- induced apoptosis; AAA ATPases 9606.ENSP00000313172 BVES 360 Blood vessel epicardial substance; Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells. Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epitheli [...] 9606.ENSP00000313199 HNRNPD 355 Heterogeneous nuclear ribonucleoprotein D0; Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto- oncogenes and cytokine mRNAs. Also binds to double- and single- stranded DNA sequences in a specific manner and functions a transcription factor. Each of the RNA-binding domains specifically can bind solely to a single-stranded non-monotonous 5'-UUAG-3' sequence and also weaker to the single-stranded 5'-TTAGGG-3' telomeric DNA repeat. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-s [...] 9606.ENSP00000313226 CTXN1 82 Cortexin-1; May mediate extracellular or intracellular signaling of cortical neurons during forebrain development 9606.ENSP00000313243 HSF5 596 Heat shock factor protein 5; May act as a transcriptional factor 9606.ENSP00000313309 FUZ 418 Protein fuzzy homolog; Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity) 9606.ENSP00000313318 SLC35C1 364 GDP-fucose transporter 1; Involved in GDP-fucose import from the cytoplasm into the Golgi lumen; Belongs to the TPT transporter family. SLC35C subfamily 9606.ENSP00000313324 C3orf80 247 Uncharacterized membrane protein C3orf80; Chromosome 3 open reading frame 80 9606.ENSP00000313350 RNASEH1 286 Ribonuclease H1; Endonuclease that specifically degrades the RNA of RNA- DNA hybrids. Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II; Belongs to the RNase H family 9606.ENSP00000313377 PANK2 570 Pantothenate kinase 2, mitochondrial; May be the master regulator of the CoA biosynthesis; Belongs to the type II pantothenate kinase family 9606.ENSP00000313384 OR1E1 314 Olfactory receptor 1E1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000313391 DAB2 770 Disabled homolog 2; Adapter protein that functions as clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 [...] 9606.ENSP00000313398 FUT6 359 Alpha-(1,3)-fucosyltransferase 6; Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP- beta-fucose to alpha-2,3 sialylated substrates; Fucosyltransferases 9606.ENSP00000313420 PRKDC 4128 DNA-dependent protein kinase catalytic subunit; Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act [...] 9606.ENSP00000313422 ARL6IP4 421 ADP-ribosylation factor-like protein 6-interacting protein 4; Involved in modulating alternative pre-mRNA splicing with either 5' distal site activation or preferential use of 3' proximal site. In case of infection by Herpes simplex virus (HSVI), may act as a splicing inhibitor of HSVI pre-mRNA 9606.ENSP00000313423 GFRA4 299 GDNF family receptor alpha-4; Receptor for persephin. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. May be important in C-cell development and, in the postnatal development of the adrenal medulla; Belongs to the GDNFR family 9606.ENSP00000313432 GRHPR 328 Glyoxylate reductase/hydroxypyruvate reductase; Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate 9606.ENSP00000313437 MMP19 508 Matrix metalloproteinase-19; Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin; Belongs to the peptidase M10A family 9606.ENSP00000313443 ZNF491 437 Zinc finger protein 491; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000313454 UBA6 1052 Ubiquitin-like modifier-activating enzyme 6; Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin- E1 thioester and free AMP. Specific for ubiquitin, does not activate ubiquitin-like peptides. Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Required for UBD/FAT10 conjugation. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesi [...] 9606.ENSP00000313490 PFAS 1338 Phosphoribosylformylglycinamidine synthase; Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity); In the N-terminal section; belongs to the FGAMS family 9606.ENSP00000313500 C17orf53 647 Uncharacterized protein C17orf53; Chromosome 17 open reading frame 53 9606.ENSP00000313504 PHKB 1093 Phosphorylase b kinase regulatory subunit beta; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation 9606.ENSP00000313571 LGALS7B 136 Lectin, galactoside-binding, soluble, 7B; Could be involved in cell-cell and/or cell-matrix interactions necessary for normal growth control. Pro-apoptotic protein that functions intracellularly upstream of JNK activation and cytochrome c release; Galectins 9606.ENSP00000313581 KLK2 261 Kallikrein-2; Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin 9606.ENSP00000313582 ZNF436 470 Zinc finger protein 436; May be a transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000313600 ATP10B 1461 Probable phospholipid-transporting ATPase VB; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily 9606.ENSP00000313601 CC2D1A 951 Coiled-coil and C2 domain-containing protein 1A; Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When c [...] 9606.ENSP00000313603 ABCF1 845 ATP-binding cassette sub-family F member 1; Isoform 2 is required for efficient Cap- and IRES- mediated mRNA translation initiation. Isoform 2 is not involved in the ribosome biogenesis; ATP binding cassette subfamily F 9606.ENSP00000313670 ALS2CL 953 ALS2 C-terminal-like protein; Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics; VPS9 domain containing 9606.ENSP00000313681 SPHK1 470 Sphingosine kinase 1; Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro- sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N- dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol 9606.ENSP00000313691 FTMT 242 Ferritin, mitochondrial; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation; Ferritin subunits 9606.ENSP00000313699 HEPHL1 1159 Hephaestin-like protein 1; May function as a ferroxidase and may be involved in copper transport and homeostasis 9606.ENSP00000313752 SSNA1 119 SS nuclear autoantigen 1 9606.ENSP00000313756 ASB3 556 Ankyrin repeat and SOCS box protein 3; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000313759 CTC1 1217 CST complex subunit CTC1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...] 9606.ENSP00000313803 OR3A1 315 Olfactory receptor 3A1; Odorant receptor; Olfactory receptors, family 3 9606.ENSP00000313809 AMBN 447 Ameloblastin; Involved in the mineralization and structural organization of enamel; Belongs to the ameloblastin family 9606.ENSP00000313811 USP20 914 Ubiquitin carboxyl-terminal hydrolase 20; Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins de [...] 9606.ENSP00000313816 PRIMPOL 560 DNA-directed primase/polymerase protein; DNA primase and DNA polymerase able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function [...] 9606.ENSP00000313829 KHDRBS1 443 KH domain-containing, RNA-binding, signal transduction-associated protein 1; Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain- containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediate [...] 9606.ENSP00000313833 LCN15 184 Lipocalin-15; Lipocalin 15; Lipocalins 9606.ENSP00000313851 PDS5B 1447 Sister chromatid cohesion protein PDS5 homolog B; Regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair. Plays a role in androgen-induced proliferative arrest in prostate cells; Armadillo-like helical domain containing 9606.ENSP00000313854 CLPTM1L 538 Cleft lip and palate transmembrane protein 1-like protein; Enhances cisplatin-mediated apoptosis, when overexpressed; Belongs to the CLPTM1 family 9606.ENSP00000313869 GORASP1 440 Golgi reassembly-stacking protein 1; Stacking factor involved in the postmitotic assembly of Golgi stacks from mitotic Golgi fragments. Key structural protein required for the maintenance of the Golgi apparatus integrity: its caspase-mediated cleavage is required for fragmentation of the Golgi during apoptosis (By similarity). Also mediates, via its interaction with GOLGA2/GM130, the docking of transport vesicles with the Golgi membranes; PDZ domain containing 9606.ENSP00000313875 CD46 399 Membrane cofactor protein; Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement- mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T- cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity 9606.ENSP00000313877 TSFM 346 Elongation factor Ts, mitochondrial; Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF- Tu.GTP complex up to the GTP hydrolysis stage on the ribosome; Belongs to the EF-Ts family 9606.ENSP00000313881 MKRN3 507 Probable E3 ubiquitin-protein ligase makorin-3; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins; Ring finger proteins 9606.ENSP00000313885 KIAA0195 1356 Transmembrane protein 94; KIAA0195 9606.ENSP00000313921 MSRA 235 Mitochondrial peptide methionine sulfoxide reductase; Has an important function as a repair enzyme for proteins that have been inactivated by oxidation. Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine 9606.ENSP00000313922 OAZ3 190 Ornithine decarboxylase antizyme 3; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity. Stabilizes AZIN2 by interfering with its ubiquitination. Involved in the translocation of AZNI2 from ER-Golgi intermediate compartment (ERGIC) to the cytoso [...] 9606.ENSP00000313933 GLTSCR1L 1079 BRD4-interacting chromatin-remodeling complex-associated protein-like; GLTSCR1-like 9606.ENSP00000313936 OR2AE1 323 Olfactory receptor 2AE1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000313950 AURKB 345 Aurora kinase B; Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis. Required for central/midzone spindle assembly and cleavage furrow formation. Key component of [...] 9606.ENSP00000313953 TTC27 843 Tetratricopeptide repeat domain containing; Belongs to the TTC27 family 9606.ENSP00000313967 C1QB 253 Complement C1q subcomponent subunit B; C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes 9606.ENSP00000313983 WHSC1L1 1437 Histone-lysine N-methyltransferase NSD3; Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression 9606.ENSP00000313995 KLHDC3 382 Kelch domain-containing protein 3; May be involved in meiotic recombination process 9606.ENSP00000314004 ANAPC2 822 Anaphase-promoting complex subunit 2; Together with the RING-H2 protein ANAPC11, constitutes the catalytic component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. The CDC20-APC/C complex positively re [...] 9606.ENSP00000314023 SIDT2 832 SID1 transmembrane family member 2; Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP- dependent manner, and degraded. Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis. Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis. In vitro, mediates the uptake of linear DNA more efficiently than that of circular DNA, but exhibits similar uptake efficacy toward R [...] 9606.ENSP00000314029 SENP3 574 Sentrin-specific protease 3; Protease that releases SUMO2 and SUMO3 monomers from sumoylated substrates, but has only weak activity against SUMO1 conjugates. Deconjugates SUMO2 from MEF2D, which increases its transcriptional activation capability. Deconjugates SUMO2 and SUMO3 from CDCA8. Redox sensor that, when redistributed into nucleoplasm, can act as an effector to enhance HIF1A transcriptional activity by desumoylating EP300. Required for rRNA processing through deconjugation of SUMO2 and SUMO3 from nucleophosmin, NPM1. Plays a role in the regulation of sumoylation status of ZNF148 [...] 9606.ENSP00000314030 DNAJA2 412 DnaJ homolog subfamily A member 2; Co-chaperone of Hsc70. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro); DNAJ heat shock proteins 9606.ENSP00000314036 AGPAT4 378 1-acyl-sn-glycerol-3-phosphate acyltransferase delta; Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family 9606.ENSP00000314042 MRGPRX4 322 Mas-related G-protein coupled receptor member X4; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity); G protein-coupled receptors, Class A orphans 9606.ENSP00000314067 PAK2 524 Serine/threonine-protein kinase PAK 2; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Full-length PAK2 stimulates cell survival and cell growth. Phosphorylates MAPK4 and MAPK6 and activates the downstream targ [...] 9606.ENSP00000314080 HIC1 733 Hypermethylated in cancer 1 protein; Transcriptional repressor. Recognizes and binds to the consensus sequence '5-[CG]NG[CG]GGGCA[CA]CC-3'. May act as a tumor suppressor. May be involved in development of head, face, limbs and ventral body wall. Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1. The regulation of SIRT1 transcription in response to nutrient deprivation seems to involve CTBP1. In c [...] 9606.ENSP00000314099 CA5B 317 Carbonic anhydrase 5B, mitochondrial; Reversible hydration of carbon dioxide; Belongs to the alpha-carbonic anhydrase family 9606.ENSP00000314116 TMEM107 146 Transmembrane protein 107; Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins 9606.ENSP00000314129 TFE3 575 Transcription factor E3; Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF. In association with TFEB, activates the expression of CD40L in T-cells, thereby playing a role in T- cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes the MUE3 box, a subset of E-boxes, present in the immunoglobulin enhancer. It also binds very well to a USF/MLTF site; Basic helix-lo [...] 9606.ENSP00000314132 BOK 212 Bcl-2-related ovarian killer protein; Isoform 1: Apoptosis regulator that functions through different apoptotic signaling pathways. Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a BAX- and BAK1-dependent manner or in a BAX- and BAK1-independent manner. In response to endoplasmic reticulum stress promotes mitochondrial apoptosis through downstream BAX/BAK1 activation and positive regulation of PERK-mediated unfolded protein response (By similarity). Activates apoptosis independently of heterodimerization with survival- promoting BCL2 and [...] 9606.ENSP00000314151 KLK3 261 Prostate-specific antigen; Hydrolyzes semenogelin-1 thus leading to the liquefaction of the seminal coagulum; Kallikreins 9606.ENSP00000314153 ZBTB33 672 Transcriptional regulator Kaiso; Transcriptional regulator with bimodal DNA-binding specificity. Binds to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' and also binds to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. May contribute to the repression of target genes of the Wnt signaling pathway. May also activate transcription of a subset of target genes by the re [...] 9606.ENSP00000314157 SNAP47 464 Synaptosomal-associated protein 47; Plays a role in intracellular membrane fusion 9606.ENSP00000314173 SAMD12 201 Sterile alpha motif domain containing 12 9606.ENSP00000314193 WDR75 830 WD repeat-containing protein 75; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre- ribosomal RNA transcription by RNA polymerase I; UTPa subcomplex 9606.ENSP00000314196 MBOAT4 435 Ghrelin O-acyltransferase; Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid; Belongs to the membrane-bound acyltransferase family 9606.ENSP00000314214 VAMP2 116 Vesicle-associated membrane protein 2; Involved in the targeting and/or fusion of transport vesicles to their target membrane. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1; Belongs to the synaptobrevin family 9606.ENSP00000314223 GPR88 384 Probable G-protein coupled receptor 88; Probable G-protein coupled receptor implicated in a large repertoire of behavioral responses that engage motor activities, spatial learning, and emotional processing. May play a role in the regulation of cognitive and motor function 9606.ENSP00000314299 CFHR1 330 Complement factor H-related protein 1; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism 9606.ENSP00000314324 OR10Q1 319 Olfactory receptor 10Q1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000314343 MED29 221 Mediator of RNA polymerase II transcription subunit 29; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000314348 DDX10 875 Probable ATP-dependent RNA helicase DDX10; Putative ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DDX10/DBP4 subfamily 9606.ENSP00000314380 GRINA 371 Protein lifeguard 1; Potential apoptotic regulator; Transmembrane BAX inhibitor motif containing 9606.ENSP00000314396 PRMT9 845 Protein arginine N-methyltransferase 9; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA; Belongs to the class I-like SAM-binding methyltransferase superfamily. Protein arginine N- methyltransferase family 9606.ENSP00000314407 CA8 290 Carbonic anhydrase-related protein; Does not have a carbonic anhydrase catalytic activity 9606.ENSP00000314420 PER1 1290 Period circadian protein homolog 1; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time- keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, card [...] 9606.ENSP00000314441 METTL1 276 tRNA (guanine-N(7)-)-methyltransferase; Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA; Methyltransferase like 9606.ENSP00000314444 WDR35 1181 WD repeat-containing protein 35; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Required for ciliogenesis. May promote CASP3 activation and TNF-stimulated apoptosis; Intraflagellar transport proteins 9606.ENSP00000314480 UNCX 531 Homeobox protein unc-4 homolog; Transcription factor involved in somitogenesis and neurogenesis. Required for the maintenance and differentiation of particular elements of the axial skeleton. May act upstream of PAX9. Plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and to deliver hormones for control of peripheral functions (By similarity); PRD class homeoboxes and pseudogenes 9606.ENSP00000314499 GAK 1311 Cyclin-G-associated kinase; Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin- coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000314500 GALNT14 557 Polypeptide N-acetylgalactosaminyltransferase 14 9606.ENSP00000314505 MCM9 1143 DNA helicase MCM9; Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8- MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart 9606.ENSP00000314508 GBA 536 Glucosylceramidase beta 9606.ENSP00000314518 LYSMD3 306 LysM and putative peptidoglycan-binding domain-containing protein 3; LysM domain containing 3 9606.ENSP00000314543 MAGEB18 343 Melanoma-associated antigen B18; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex; MAGE family 9606.ENSP00000314544 CCZ1B 482 CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated 9606.ENSP00000314556 UACA 1416 Uveal autoantigen with coiled-coil domains and ankyrin repeats; Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity); Ankyrin repeat domain containing 9606.ENSP00000314560 MAP6D1 199 MAP6 domain-containing protein 1; May have microtubule-stabilizing activity; Belongs to the STOP family 9606.ENSP00000314606 SGSH 502 N-sulphoglucosamine sulphohydrolase; Catalyzes a step in lysosomal heparan sulfate degradation; Belongs to the sulfatase family 9606.ENSP00000314608 KLHL11 708 Kelch-like protein 11; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation; BTB domain containing 9606.ENSP00000314615 ARFGAP1 414 ADP-ribosylation factor GTPase-activating protein 1; GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, a [...] 9606.ENSP00000314619 ZFAND2A 145 Zinc finger AN1-type containing 2A 9606.ENSP00000314649 ALDH5A1 548 Succinate-semialdehyde dehydrogenase, mitochondrial; Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA); Aldehyde dehydrogenases 9606.ENSP00000314709 ZHX2 837 Zinc fingers and homeoboxes protein 2; Acts as a transcriptional repressor. Represses the promoter activity of the CDC25C gene stimulated by NFYA; ZF class homeoboxes and pseudogenes 9606.ENSP00000314724 PPFIBP1 1011 Liprin-beta-1; May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A; Sterile alpha motif domain containing 9606.ENSP00000314733 TOLLIP 274 Toll-interacting protein; Component of the signaling pathway of IL-1 and Toll-like receptors. Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex. Inhibits IRAK1 phosphorylation and kinase activity. Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin- ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates. The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates; C2 domain containing 9606.ENSP00000314776 MBLAC2 279 Metallo-beta-lactamase domain containing 2; Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family 9606.ENSP00000314792 BOLL 295 Protein boule-like; Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation (By similarity); Belongs to the RRM DAZ family 9606.ENSP00000314806 FOXR1 292 Forkhead box R1 9606.ENSP00000314807 IL1RAP 687 Interleukin 1 receptor accessory protein; Immunoglobulin like domain containing 9606.ENSP00000314810 EDDM3B 147 Epididymal secretory protein E3-beta; Possible function in sperm maturation 9606.ENSP00000314879 ALOXE3 843 Hydroperoxide isomerase ALOXE3; Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty [...] 9606.ENSP00000314897 ANGPT2 496 Angiopoietin-2; Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1. In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal; Fibrinogen C domain containing 9606.ENSP00000314901 LRRN1 716 Leucine rich repeat neuronal 1; I-set domain containing 9606.ENSP00000314946 RPRM 109 Protein reprimo; May be involved in the regulation of p53-dependent G2 arrest of the cell cycle. Seems to induce cell cycle arrest by inhibiting CDK1 activity and nuclear translocation of the CDC2 cyclin B1 complex (By similarity) 9606.ENSP00000314976 IL20RA 553 Interleukin-20 receptor subunit alpha; The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL20RA/IL10RB dimer is a receptor for IL26; Interleukin receptors 9606.ENSP00000314992 RRH 337 Visual pigment-like receptor peropsin; May play a role in rpe physiology either by detecting light directly or by monitoring the concentration of retinoids or other photoreceptor-derived compounds; Opsin receptors 9606.ENSP00000315006 SLC28A2 658 Sodium/nucleoside cotransporter 2; Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues; Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family 9606.ENSP00000315011 EDNRA 427 Endothelin-1 receptor; Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3 9606.ENSP00000315013 CRAT 626 Carnitine O-acetyltransferase; Carnitine acetylase is specific for short chain fatty acids. Carnitine acetylase seems to affect the flux through the pyruvate dehydrogenase complex. It may be involved as well in the transport of acetyl-CoA into mitochondria; Belongs to the carnitine/choline acetyltransferase family 9606.ENSP00000315017 MRPL1 325 Mitochondrial ribosomal protein L1 9606.ENSP00000315035 PPP1R42 228 Protein phosphatase 1 regulatory subunit 42; Regulates phosphatase activity of protein phosphatase 1 (PP1) complexes in the testis 9606.ENSP00000315064 MAGEF1 307 Melanoma-associated antigen F1; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex; MAGE family 9606.ENSP00000315070 GJD4 370 Gap junction delta-4 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Delta-type subfamily 9606.ENSP00000315081 LSMEM2 164 Leucine rich single-pass membrane protein 2 9606.ENSP00000315098 EDDM3A 147 Epididymal secretory protein E3-alpha; Possible function in sperm maturation 9606.ENSP00000315106 GPR137C 429 Integral membrane protein GPR137C; G protein-coupled receptor 137C 9606.ENSP00000315112 RNF31 1072 E3 ubiquitin-protein ligase RNF31; E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF- [...] 9606.ENSP00000315118 ADCK4 544 Atypical kinase COQ8B, mitochondrial; Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration 9606.ENSP00000315130 CLU 449 Clusterin; Isoform 1 functions as extracellular chaperone that prevents aggregation of nonnative proteins. Prevents stress- induced aggregation of blood plasma proteins. Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro). Does not require ATP. Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70. Does not refold proteins by itself. Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosom [...] 9606.ENSP00000315136 APBA3 575 Amyloid-beta A4 precursor protein-binding family A member 3; May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN; PDZ domain containing 9606.ENSP00000315137 SGPP2 399 Sphingosine-1-phosphate phosphatase 2; Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro. May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling 9606.ENSP00000315152 METAP1D 335 Methionine aminopeptidase 1D, mitochondrial; Removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). Requires deformylation of the N(alpha)-formylated initiator methionine before it can be hydrolyzed (By similarity). May play a role in colon tumorigenesis; Belongs to the peptidase M24A family. Methionine aminopeptidase type 1 subfamily 9606.ENSP00000315167 ALOX12B 701 Arachidonate 12-lipoxygenase, 12R-type; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12R)- hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore [...] 9606.ENSP00000315182 SHQ1 577 Protein SHQ1 homolog; Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA 9606.ENSP00000315203 CREG2 290 Protein CREG2; Cellular repressor of E1A stimulated genes 2 9606.ENSP00000315247 FAM71C 241 Protein FAM71C; Family with sequence similarity 71 member C 9606.ENSP00000315263 GLTP 209 Glycolipid transfer protein; Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides 9606.ENSP00000315265 DYNAP 210 Dynactin-associated protein; Plays a role in the regulation of cell proliferation. Promotes activation of the AKT1 signaling pathway. Promotes phosphorylation of AKT1 at 'Ser-473' 9606.ENSP00000315295 KIAA1549L 1849 UPF0606 protein KIAA1549L; KIAA1549 like; Belongs to the UPF0606 family 9606.ENSP00000315299 CALML3 149 Calmodulin-like protein 3; May function as a specific light chain of unconventional myosin-10 (MYO10), also enhances MYO10 translation, possibly by acting as a chaperone for the emerging MYO10 heavy chain protein. May compete with calmodulin by binding, with different affinities, to cellular substrates 9606.ENSP00000315351 D2HGDH 521 D-2-hydroxyglutarate dehydrogenase, mitochondrial; Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate 9606.ENSP00000315357 ARL6IP6 226 ADP ribosylation factor like GTPase 6 interacting protein 6; Belongs to the ARL6IP6 family 9606.ENSP00000315370 C5orf46 87 Uncharacterized protein C5orf46; Chromosome 5 open reading frame 46 9606.ENSP00000315371 ANO5 913 Anoctamin-5; Does not exhibit calcium-activated chloride channel (CaCC) activity; Anoctamins 9606.ENSP00000315379 PRPF3 683 U4/U6 small nuclear ribonucleoprotein Prp3; Participates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome; U4/U6 small nucleolar ribonucleoprotein 9606.ENSP00000315383 ASPRV1 343 Retroviral-like aspartic protease 1; Gag like LTR retrotransposon derived genes 9606.ENSP00000315386 KDELC2 507 KDEL motif-containing protein 2; Glycosyltransferase family 90; Belongs to the KDELC family 9606.ENSP00000315387 TMEM102 508 Transmembrane protein 102; Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway 9606.ENSP00000315397 MRPS31 395 Mitochondrial ribosomal protein S31 9606.ENSP00000315410 OSBPL3 887 Oxysterol-binding protein-related protein 3; Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes. Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments. The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface. With VAPA, may regulate ER morphology. Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion. Binds to phosphoinositides with preference for PI(3,4)P2 [...] 9606.ENSP00000315417 ALX1 326 ALX homeobox protein 1; Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes. Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival. May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1; Belongs to the paired homeobox family 9606.ENSP00000315465 DSCAML1 2113 Down syndrome cell adhesion molecule-like protein 1; Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal [...] 9606.ENSP00000315474 GIMAP7 300 GTPase IMAP family member 7; The dimer has GTPase activity; the active site contains residues from both subunits; GTPases, IMAP 9606.ENSP00000315476 EXOSC4 245 Exosome complex component RRP41; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] 9606.ENSP00000315477 CD209 404 CD209 antigen; Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response; C-type lectin domain containing 9606.ENSP00000315505 HKR1 659 Krueppel-related zinc finger protein 1; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000315554 SPEM1 309 Spermatid maturation protein 1; Required for proper cytoplasm removal during spermatogenesis 9606.ENSP00000315557 C2orf57 395 Testis-expressed protein 44; Chromosome 2 open reading frame 57 9606.ENSP00000315564 LGALS9B 355 Galectin-9B; Binds galactosides; Galectins 9606.ENSP00000315568 AVL9 648 Late secretory pathway protein AVL9 homolog; Functions in cell migration 9606.ENSP00000315569 DIS3L2 885 DIS3-like exonuclease 2; 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degradation of both mRNAs and miRNAs that have been polyuridylated by a terminal uridylyltransferase, such as ZCCHC11/TUT4. Mediates degradation of cytoplasmic mRNAs that have been deadenylated and subsequently uridylated at their 3'. Mediates degradation of uridylated pre-let-7 miRNAs, contributing to the maintenance of embryonic stem (ES) cells. Essential for correct mi [...] 9606.ENSP00000315602 CHRNA3 505 Neuronal acetylcholine receptor subunit alpha-3; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits 9606.ENSP00000315614 ERICH5 374 Glutamate-rich protein 5; Glutamate rich 5 9606.ENSP00000315630 SWAP70 585 Switch-associated protein 70; Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity); EF-hand domain containing 9606.ENSP00000315635 TMEM25 366 Transmembrane protein 25; C2-set domain containing 9606.ENSP00000315644 TYMS 313 Thymidylate synthase; Contributes to the de novo mitochondrial thymidylate biosynthesis pathway 9606.ENSP00000315654 KCNG2 466 Potassium voltage-gated channel subfamily G member 2; Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values; Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.2/KCNG2 sub-subfamily 9606.ENSP00000315659 DNMBP 1577 Dynamin-binding protein; Scaffold protein that links dynamin with actin- regulating proteins. May play a role in membrane trafficking between the cell surface and the Golgi (By similarity); Classical BAR domain containing 9606.ENSP00000315664 ZNF18 549 Zinc finger protein 18; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000315680 PEX7 323 Peroxisomal targeting signal 2 receptor; Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import; Belongs to the WD repeat peroxin-7 family 9606.ENSP00000315693 PAM16 125 Mitochondrial import inner membrane translocase subunit TIM16; Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity; Belongs to the TIM16/PAM16 family 9606.ENSP00000315700 CHAF1B 559 Chromatin assembly factor 1 subunit B; Complex that is thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer; Belongs to the WD repeat HIR1 family 9606.ENSP00000315702 MOB4 225 MOB-like protein phocein; May play a role in membrane trafficking, specifically in membrane budding reactions; Belongs to the MOB1/phocein family 9606.ENSP00000315713 SSH1 1049 Protein phosphatase Slingshot homolog 1; Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein; Slingshot protein phosphatases 9606.ENSP00000315731 METRNL 311 Meteorin-like protein; Hormone induced following exercise or cold exposure that promotes energy expenditure. Induced either in the skeletal muscle after exercise or in adipose tissue following cold exposure and is present in the circulation. Able to stimulate energy expenditure associated with the browning of the white fat depots and improves glucose tolerance. Does not promote an increase in a thermogenic gene program via direct action on adipocytes, but acts by stimulating several immune cell subtypes to enter the adipose tissue and activate their prothermogenic actions. Stimulates a [...] 9606.ENSP00000315743 CCNG2 344 Cyclin-G2; May play a role in growth regulation and in negative regulation of cell cycle progression; Belongs to the cyclin family. Cyclin G subfamily 9606.ENSP00000315768 STAT2 851 Signal transducer and activator of transcription 2; Signal transducer and activator of transcription that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize, associate with IRF9/ISGF3G to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive [...] 9606.ENSP00000315774 NDUFS8 210 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). May donate electrons to ubiquinone; NADH:ubiquinone oxidoreductase core subunits 9606.ENSP00000315775 COG4 789 Conserved oligomeric Golgi complex subunit 4; Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1; Belongs to the COG4 family 9606.ENSP00000315791 CSTF3 717 Cleavage stimulation factor subunit 3; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs 9606.ENSP00000315794 C15orf56 161 Putative uncharacterized protein C15orf56; Chromosome 15 open reading frame 56 9606.ENSP00000315870 ZNF575 245 Zinc finger protein 575; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000315915 ANXA2R 193 Annexin-2 receptor; May act as a receptor for annexin II on marrow stromal cells to induce osteoclast formation 9606.ENSP00000315931 AHCYL2 611 Adenosylhomocysteinase 3; May regulate the electrogenic sodium/bicarbonate cotransporter SLC4A4 activity and Mg(2+)-sensitivity. On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate; Belongs to the adenosylhomocysteinase family 9606.ENSP00000315949 HOXD8 290 Homeobox protein Hox-D8; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000315988 DPY19L2 758 Probable C-mannosyltransferase DPY19L2; Probable C-mannosyltransferase that mediates C- mannosylation of tryptophan residues on target proteins (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation; Belongs to the dpy-19 family 9606.ENSP00000315997 LILRB1 652 Leukocyte immunoglobulin-like receptor subfamily B member 1; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Receptor for H301/UL18, a human cytomegalovirus class I MHC homolog. Ligand binding results in inhibitory signals and down-regulation of the immune response. Engagement of LILRB1 present on natural killer cells or T-cells by class I MHC molecules protects the target cells from lysis. Interaction with HLA-B or HLA-E leads to inhibition of the signal triggered by FCER1A and inhibits serotonin release. Inhibits FCGR1A-mediate [...] 9606.ENSP00000316007 SCAMP4 229 Secretory carrier-associated membrane protein 4; Probably involved in membrane protein trafficking; Secretory carrier membrane proteins 9606.ENSP00000316012 SPAG11A 108 Sperm associated antigen 11A; Belongs to the SPAG11 family 9606.ENSP00000316029 TLN1 2541 Talin-1; Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (By similarity); FERM domain containing 9606.ENSP00000316032 NUP98 1800 Nuclear pore complex protein Nup98-Nup96; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes. Involved in the localization of DHX9 in discrete intranuclear foci (GLFG-body); Nucleoporins 9606.ENSP00000316042 HNRNPA0 305 Heterogeneous nuclear ribonucleoprotein A0; mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post- transcriptional regulation of cytokines mRNAs 9606.ENSP00000316054 DVL3 716 Segment polarity protein dishevelled homolog DVL-3; May play a role in the signal transduction pathway mediated by multiple Wnt genes; Dishevelled segment polarity proteins 9606.ENSP00000316109 AGGF1 714 Angiogenic factor with G patch and FHA domains 1; Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion; G-patch domain containing 9606.ENSP00000316114 CCDC101 293 SAGA-associated factor 29; Chromatin reader component of some histone acetyltransferase (HAT) SAGA-type complexes like the TFTC-HAT, ATAC or STAGA complexes. SGF29 specifically recognizes and binds methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3). In the SAGA-type complexes, SGF29 is required to recruit complexes to H3K4me. Involved in the response to endoplasmic reticulum (ER) stress by recruiting the SAGA complex to H3K4me, thereby promoting histone H3 acetylation and cell survival 9606.ENSP00000316130 SYNE4 404 Nesprin-4; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Behaves as a kinesin cargo, providing a functional binding site for kinesin-1 at the nuclear envelope. Hence may contribute to the establishment of secretory epithelial morphology by promoting kinesin-dependen [...] 9606.ENSP00000316137 DRICH1 229 Aspartate-rich protein 1; Aspartate rich 1 9606.ENSP00000316152 SFTPC 197 Pulmonary surfactant-associated protein C; Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces; BRICHOS domain containing 9606.ENSP00000316173 B3GNT5 378 Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase; Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during emb [...] 9606.ENSP00000316176 UBE2N 152 Ubiquitin-conjugating enzyme E2 N; The UBE2V1-UBE2N and UBE2V2-UBE2N heterodimers catalyze the synthesis of non-canonical 'Lys-63'-linked polyubiquitin chains. This type of polyubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the 'Lys-63'-linked poly-ubiquitination of P [...] 9606.ENSP00000316228 CLEC4M 399 C-type lectin domain family 4 member M; Probable pathogen-recognition receptor involved in peripheral immune surveillance in liver. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. Is a receptor for ICAM3, probably by binding to mannose-like carbohydrates; CD molecules 9606.ENSP00000316244 HTR1A 422 5-hydroxytryptamine receptor 1A; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second [...] 9606.ENSP00000316284 OR2Z1 314 Olfactory receptor 2Z1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000316329 SCD5 330 Stearoyl-CoA desaturase 5; Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA. Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids 9606.ENSP00000316335 FARS2 451 Phenylalanine--tRNA ligase, mitochondrial; Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000316338 BAIAP2 552 Brain-specific angiogenesis inhibitor 1-associated protein 2; Adapter protein that links membrane-bound small G- proteins to cytoplasmic effector proteins. Necessary for CDC42- mediated reorganization of the actin cytoskeleton and for RAC1- mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling [...] 9606.ENSP00000316357 USP9X 2570 Probable ubiquitin carboxyl-terminal hydrolase FAF-X; Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Specifically hydrolyzes both 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains. Spec [...] 9606.ENSP00000316377 DLGAP1 977 Disks large-associated protein 1; Part of the postsynaptic scaffold in neuronal cells; Belongs to the SAPAP family 9606.ENSP00000316416 CSH1 217 Chorionic somatomammotropin hormone 1; Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization; Belongs to the somatotropin/prolactin family 9606.ENSP00000316454 PACS1 963 Phosphofurin acidic cluster sorting protein 1; Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin- coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN; Belongs to the PACS family 9606.ENSP00000316457 C20orf197 126 Uncharacterized protein C20orf197; Chromosome 20 open reading frame 197 9606.ENSP00000316476 DEGS1 323 Sphingolipid delta(4)-desaturase DES1; Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine); Fatty acid desaturases 9606.ENSP00000316482 KCTD14 255 BTB/POZ domain-containing protein KCTD14; Potassium channel tetramerization domain containing 14 9606.ENSP00000316491 FCAMR 577 High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor; Functions as a receptor for the Fc fragment of IgA and IgM. Binds IgA and IgM with high affinity and mediates their endocytosis. May function in the immune response to microbes mediated by IgA and IgM; CD molecules 9606.ENSP00000316496 DCAF4L2 395 DDB1- and CUL4-associated factor 4-like protein 2; DDB1 and CUL4 associated factor 4 like 2; WD repeat domain containing 9606.ENSP00000316512 TLK2 772 Serine/threonine-protein kinase tousled-like 2; Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A AND ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. Negative regulator of amino acid starvation-induced autophagy 9606.ENSP00000316518 OR9A2 310 Olfactory receptor 9A2; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000316527 ZNF609 1411 Zinc finger protein 609; Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others; Zinc fingers C2H2-type 9606.ENSP00000316532 TMEM132E 984 Transmembrane protein 132E; Required for normal inner ear hair cell function and hearing; Belongs to the TMEM132 family 9606.ENSP00000316543 RAPH1 1250 Ras-associated and pleckstrin homology domains-containing protein 1; Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion; Pleckstrin homology domain containing 9606.ENSP00000316578 SUZ12 739 Polycomb protein SUZ12; Polycomb group (PcG) protein. Component of the PRC2/EED- EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A 9606.ENSP00000316589 RANBP10 620 Ran-binding protein 10; Acts as a guanine nucleotide exchange factor (GEF) for RAN GTPase (By similarity). May play an essential role in hemostasis and in maintaining microtubule dynamics with respect to both platelet shape and function (By similarity). May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen- induced transactivation. In contrast to RANBP9, does not interact with Sos [...] 9606.ENSP00000316598 GTPBP6 516 Putative GTP-binding protein 6; Pseudoautosomal region 1 9606.ENSP00000316605 CNGB3 809 Cyclic nucleotide-gated cation channel beta-3; Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked ele [...] 9606.ENSP00000316609 SWI5 235 DNA repair protein SWI5 homolog; Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination 9606.ENSP00000316628 RNF152 203 E3 ubiquitin-protein ligase RNF152; E3 ubiquitin-protein ligase mediating 'Lys-63'-linked polyubiquitination of RRAGA in response to amino acid starvation. Thereby, regulates mTORC1 signaling and plays a role in the cellular response to amino acid availability. Also mediates 'Lys-48'-linked polyubiquitination of target proteins and their subsequent targeting to the proteasome for degradation. Induces apoptosis when overexpressed; Ring finger proteins 9606.ENSP00000316644 C3orf22 141 Uncharacterized protein C3orf22; Chromosome 3 open reading frame 22 9606.ENSP00000316649 OSBPL2 480 Oxysterol-binding protein-related protein 2; Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3- phosphate. Binds 25-hydroxycholesterol; Belongs to the OSBP family 9606.ENSP00000316674 ACTL9 416 Actin-like protein 9; Actin related proteins 9606.ENSP00000316675 PVRIG 326 Transmembrane protein PVRIG; Cell surface receptor for NECTIN2. May act as a coinhibitory receptor that suppresses T-cell receptor-mediated signals. Following interaction with NECTIN2, inhibits T-cell proliferation. Competes with CD226 for NECTIN2-binding 9606.ENSP00000316681 KIAA1731 2601 Centrosomal protein of 295 kDa; Centriole-enriched protein that mediates centriole-to- centrosome conversion at late mitosis, but is dispensable for cartwheel removal or centriole disengagement 9606.ENSP00000316729 RHOJ 214 Rho-related GTP-binding protein RhoJ; GTP-binding protein with GTPase activity. Elicits the formation of F-actin-rich structures in fibroblasts and is involved in the regulation of cell morphology (By similarity); Rho family GTPases 9606.ENSP00000316737 LCE1D 114 Late cornified envelope protein 1D; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000316775 WBSCR28 265 Transmembrane protein 270; Williams-Beuren syndrome chromosome region 28 9606.ENSP00000316779 BIN1 593 Myc box-dependent-interacting protein 1; May be involved in regulation of synaptic vesicle endocytosis. May act as a tumor suppressor and inhibits malignant cell transformation; N-BAR domain containing 9606.ENSP00000316782 NBPF3 633 Neuroblastoma breakpoint family member 3; NBPF member 3; Belongs to the NBPF family 9606.ENSP00000316786 HSD11B2 405 Corticosteroid 11-beta-dehydrogenase isozyme 2; Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000316794 ZCCHC5 475 Retrotransposon Gag-like protein 3; May function as a transcriptional regulator. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal 9606.ENSP00000316809 PITPNA 270 Phosphatidylinositol transfer protein alpha isoform; Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes; Phosphatidylinositol transfer proteins 9606.ENSP00000316842 SIX5 739 Homeobox protein SIX5; Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'- TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity); SINE class homeoboxes 9606.ENSP00000316845 ARHGEF4 690 Rho guanine nucleotide exchange factor 4; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression; Pleckstrin homology domain containing 9606.ENSP00000316861 GPM6B 328 cDNA FLJ54144, highly similar to Neuronal membrane glycoprotein M6-b; Glycoprotein M6B 9606.ENSP00000316881 LEPREL1 708 Prolyl 3-hydroxylase 2; Prolyl 3-hydroxylase that catalyzes the post- translational formation of 3-hydroxyproline on collagens. Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1. Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline. Has no activity on substrates that lack 4- hydroxyproline in the third position; Belongs to the leprecan family 9606.ENSP00000316891 LIMCH1 1083 LIM and calponin homology domains 1 9606.ENSP00000316898 C12orf54 127 Uncharacterized protein C12orf54; Chromosome 12 open reading frame 54 9606.ENSP00000316905 SFXN1 322 Sideroflexin-1; Might be involved in the transport of a component required for iron utilization into or out of the mitochondria; Sideroflexins 9606.ENSP00000316909 SLC17A8 589 Vesicular glutamate transporter 3; Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate; Deafness associated genes 9606.ENSP00000316924 ACSS1 689 Acetyl-coenzyme A synthetase 2-like, mitochondrial; Important for maintaining normal body temperature during fasting and for energy homeostasis. Essential for energy expenditure under ketogenic conditions (By similarity). Converts acetate to acetyl-CoA so that it can be used for oxidation through the tricarboxylic cycle to produce ATP and CO(2); Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000316940 TMEM31 168 Transmembrane protein 31 9606.ENSP00000316948 CLK4 481 Dual specificity protein kinase CLK4; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates SRSF1 and SRSF3. Required for the regulation of alternative splicing of MAPT/TAU. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. Lam [...] 9606.ENSP00000316950 MYEF2 600 Myelin expression factor 2; Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5'-TTGTCC-3' of the MBP promoter. Its binding to MB1 and function are inhibited by PURA (By similarity); RNA binding motif containing 9606.ENSP00000316955 OR7A5 319 Olfactory receptor 7A5; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000317000 TM6SF1 370 Transmembrane 6 superfamily member 1; May function as sterol isomerase; Belongs to the TM6SF family 9606.ENSP00000317027 GCNT4 453 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4; Glycosyltransferase that mediates core 2 O-glycan branching, an important step in mucin-type biosynthesis. Does not have core 4 O-glycan or I-branching enzyme activity; Glucosaminyl transferases/xylosyltransferases 9606.ENSP00000317039 RMI1 625 RecQ-mediated genome instability protein 1; Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability; Belongs to the RMI1 family 9606.ENSP00000317123 SNRNP200 2136 U5 small nuclear ribonucleoprotein 200 kDa helicase; RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome 9606.ENSP00000317128 PLXND1 1925 Plexin-D1; Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in response to SEMA3E; Belongs to the plexin family 9606.ENSP00000317144 PIBF1 757 Progesterone-induced-blocking factor 1; Isoform 1: Pericentriolar protein required to maintain mitotic spindle pole integrity. Required for the centrosomal accumulation of PCM1 and the recruitment of centriolar satellite proteins such as BBS4. Via association with PCM1 may be involved in primary cilia formation. Required for CEP63 centrosomal localization and its interaction with WDR62. Together with CEP63 promotes centriole duplication. Promotes the centrosomal localization of CDK2 9606.ENSP00000317159 CYC1 325 Cytochrome c1, heme protein, mitochondrial; This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain; Apoptosome 9606.ENSP00000317165 KRBA1 1030 Protein KRBA1; KRAB-A domain containing 1 9606.ENSP00000317170 TIGD2 525 Tigger transposable element-derived protein 2; Helix-turn-helix CENPB type domain containing; DNA transposon derived genes 9606.ENSP00000317175 PLEKHD1 506 Pleckstrin homology and coiled-coil domain containing D1; Belongs to the PLEKHD1 family 9606.ENSP00000317177 PLD6 252 Mitochondrial cardiolipin hydrolase; Endonuclease that plays a critical role in PIWI- interacting RNA (piRNA) biogenesis during spermatogenesis. piRNAs provide essential protection against the activity of mobile genetic elements (By similarity). piRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation (By similarity). Has been proposed to act as a cardiolipin hydrolase to generate phosphatidic acid at mitochondrial surface (By similarity). A [...] 9606.ENSP00000317214 CAPN6 641 Calpain-6; Microtubule-stabilizing protein that may be involved in the regulation of microtubule dynamics and cytoskeletal organization. May act as a regulator of RAC1 activity through interaction with ARHGEF2 to control lamellipodial formation and cell mobility. Does not seem to have protease activity as it has lost the active site residues (By similarity); Belongs to the peptidase C2 family 9606.ENSP00000317224 SAMD4B 694 Protein Smaug homolog 2; Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A; Armadillo-like helical domain containing 9606.ENSP00000317232 FKBP10 582 Peptidyl-prolyl cis-trans isomerase FKBP10; PPIases accelerate the folding of proteins during protein synthesis; EF-hand domain containing 9606.ENSP00000317235 LMO7DN 122 LMO7 downstream neighbor 9606.ENSP00000317257 CPNE1 542 Copine-1; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner. Exhibits calcium-dependent phospholipid binding properties. Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner. May recruit target proteins to the cell membrane in a calcium-dependent manner. May function in membrane trafficking. Involved in TNF-alpha- induced NF-kappa-B transcriptiona [...] 9606.ENSP00000317272 MET 1408 Hepatocyte growth factor receptor; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of thes [...] 9606.ENSP00000317289 FAM220A 259 Protein FAM220A; May negatively regulate STAT3 9606.ENSP00000317300 LPCAT4 524 Lysophospholipid acyltransferase LPCAT4; Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl-lysophatidylethanolamine to 1- alkenyl-phosphatidylethanolamine, lysophosphatidylglycerol and alkyl-lysophosphatidylcholine to phosphatidylglycerol and alkyl- phosphatidylcholine, respectively. In contrast, has no lysophosphatidylinositol, glycerol-3-phosphate, diacylglycerol or lysophosphatidic acid acylt [...] 9606.ENSP00000317310 CABP1 370 Calcium-binding protein 1; Modulates calcium-dependent activity of inositol 1,4,5- triphosphate receptors (ITPRs). Inhibits agonist-induced intracellular calcium signaling. Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels. Causes calcium-dependent facilitation and inhibits inactivation of L-type calcium channels by binding to the same sites as calmodulin in the C-terminal domain of CACNA1C, but resulting in an opposit effects on channel function. Suppresses the calcium-dependent inactivation of CACNA1D (By similari [...] 9606.ENSP00000317327 UBASH3A 661 Ubiquitin-associated and SH3 domain-containing protein A; Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligigle protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B-dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain 9606.ENSP00000317331 SSR4 173 Translocon-associated protein subunit delta; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins; Belongs to the TRAP-delta family 9606.ENSP00000317332 SNX18 628 Sorting nexin-18; Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Stimulates the GTPase activity of DNM2. Promotes DNM2 loc [...] 9606.ENSP00000317333 NEUROG2 272 Neurogenin-2; Transcriptional regulator. Involved in neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'); Basic helix-loop-helix proteins 9606.ENSP00000317334 TCP1 556 T-complex protein 1 subunit alpha; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin; Belongs to the TCP-1 chaperonin family 9606.ENSP00000317357 OR13D1 346 Olfactory receptor 13D1; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000317376 MRPS11 194 Mitochondrial ribosomal protein S11 9606.ENSP00000317379 GLS 669 Glutaminase kidney isoform, mitochondrial; Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate in the brain. Isoform 2 lacks catalytic activity; Ankyrin repeat domain containing 9606.ENSP00000317382 SLC36A4 504 Proton-coupled amino acid transporter 4; Functions as a sodium-independent electroneutral transporter for tryptophan, proline and alanine. Inhibited by sarcosine; Belongs to the amino acid/polyamine transporter 2 family 9606.ENSP00000317396 PCNXL4 938 Pecanex-like 4 (Drosophila); Belongs to the pecanex family 9606.ENSP00000317404 CHST13 341 Carbohydrate sulfotransferase 13; Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Transfers sulfate to the C4 hydroxyl of beta1,4-linked GalNAc that is substituted with a beta-linked glucuronic acid at the C-3 hydroxyl. No activity toward dermatan; Sulfotransferases, membrane bound 9606.ENSP00000317431 ENTHD1 607 ENTH domain containing 1 9606.ENSP00000317439 CNPY1 92 Canopy FGF signaling regulator 1; Belongs to the canopy family 9606.ENSP00000317445 PSAPL1 521 Proactivator polypeptide-like 1; May activate the lysosomal degradation of sphingolipids 9606.ENSP00000317468 CHMP6 201 Charged multivesicular body protein 6; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function [...] 9606.ENSP00000317469 BBS1 593 Bardet-Biedl syndrome 1 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] 9606.ENSP00000317473 RABGGTB 331 Geranylgeranyl transferase type-2 subunit beta; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A; Belongs to the protein prenyltransferase subunit beta family 9606.ENSP00000317482 OR4F4 305 Olfactory receptor 4F4; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000317542 WASH4P 477 Putative WAS protein family homolog 4; May act as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting; Belongs to the WASH1 family 9606.ENSP00000317564 EID2B 161 EP300-interacting inhibitor of differentiation 2B; Acts as a repressor of MYOD-dependent transcription, glucocorticoid receptor-dependent transcription, and muscle differentiation 9606.ENSP00000317578 ADRBK2 688 Beta-adrenergic receptor kinase 2; Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors 9606.ENSP00000317579 C16orf58 468 RUS1 family protein C16orf58; Chromosome 16 open reading frame 58; Belongs to the RUS1 family 9606.ENSP00000317580 NEUROG1 237 Neurogenin-1; Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000317595 TPPP2 170 Tubulin polymerization-promoting protein family member 2; May bind tubulin but has no microtubule bundling activity; Tubulin polymerization promoting proteins 9606.ENSP00000317614 ZNF518B 1074 Zinc finger protein 518B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000317636 RECQL5 991 ATP-dependent DNA helicase Q5; Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination; RecQ like helicases 9606.ENSP00000317671 C12orf40 652 Uncharacterized protein C12orf40; Chromosome 12 open reading frame 40 9606.ENSP00000317674 APOL1 414 Apolipoprotein L1; May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver 9606.ENSP00000317686 ZFP42 310 Zinc finger protein 42 homolog; Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000317691 RPP25 199 Ribonuclease P protein subunit p25; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP. This subunit binds to RNA 9606.ENSP00000317714 STX4 297 Syntaxin-4; Plasma membrane t-SNARE that mediates docking of transport vesicles. Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane. Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes (By similarity). May also play a role in docking of synaptic vesicles at presynaptic active zones; Belongs to the syntaxin family 9606.ENSP00000317721 PIPOX 390 Peroxisomal sarcosine oxidase; Metabolizes sarcosine, L-pipecolic acid and L-proline 9606.ENSP00000317743 HARBI1 349 Putative nuclease HARBI1; Transposase-derived protein that may have nuclease activity (Potential). Does not have transposase activity; DNA transposon derived genes 9606.ENSP00000317780 COX5A 150 Cytochrome c oxidase subunit 5A, mitochondrial; This is the heme A-containing chain of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000317790 SPTBN5 3674 Spectrin beta, non-erythrocytic 5; Spectrins 9606.ENSP00000317817 SH2D3C 860 SH2 domain-containing protein 3C; Eph receptor-binding protein which may be a positive regulator of TCR signaling. Binding to BCAR1 is required to induce membrane ruffling and promote EGF-dependent cell migration (By similarity); NSP adaptor proteins 9606.ENSP00000317836 PRR15 129 Proline-rich protein 15; May have a role in proliferation and/or differentiation 9606.ENSP00000317842 CES2 623 Cocaine esterase; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows high catalytic efficiency for hydrolysis of cocaine, 4-methylumbelliferyl acetate, heroin and 6-monoacetylmorphine; Belongs to the type-B carboxylesterase/lipase family 9606.ENSP00000317872 RBBP6 1792 E3 ubiquitin-protein ligase RBBP6; E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the proteasome. May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of p53/TP53, leading to both apoptosis and cell growth (By similarity). Regulates DNA-replication and the stability of chromosomal common fragile sites (CFSs) in a ZBTB38- and MCM10- dependent manner. Controls ZBTB38 protein stability [...] 9606.ENSP00000317891 TNIP1 636 TNFAIP3-interacting protein 1; Inhibits NF-kappa-B activation and TNF-induced NF-kappa- B-dependent gene expression by regulating A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitinated IKBKG. Involved in regulation of EGF-induced ERK1/ERK2 signaling pathway; blocks MAPK3/MAPK1 nuclear translocation and MAPK1-dependent transcription. Increases cell surface CD4(T4) antigen expression. Involved in the anti- inflammatory response of macrophages and positively regulates TLR- induced activation of CEBPB. Involved in the prevention of autoimmunity; this [...] 9606.ENSP00000317895 RPTN 784 Repetin; Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium; EF-hand domain containing 9606.ENSP00000317902 CEP57 500 Centrosomal protein of 57 kDa; Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring- like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1 9606.ENSP00000317903 R3HDM2 976 R3H domain containing 2 9606.ENSP00000317904 GYS1 737 Glycogen [starch] synthase, muscle; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan; Glycosyl transferases group 1 domain containing 9606.ENSP00000317955 EEA1 1411 Early endosome antigen 1; Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking; Zinc fingers FYVE-type 9606.ENSP00000317971 WDTC1 677 WD and tetratricopeptide repeats protein 1; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000317985 ROCK2 1388 Rho-associated protein kinase 2; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP300, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1-p44/MAPK3 and of p90RSK/RPS6KA [...] 9606.ENSP00000317992 NOC2L 749 Nucleolar complex protein 2 homolog; Acts as an inhibitor of histone acetyltransferase activity; prevents acetylation of all core histones by the EP300/p300 histone acetyltransferase at p53/TP53-regulated target promoters in a histone deacetylases (HDAC)-independent manner. Acts as a transcription corepressor of p53/TP53- and TP63-mediated transactivation of the p21/CDKN1A promoter. Involved in the regulation of p53/TP53-dependent apoptosis. Associates together with TP63 isoform TA*-gamma to the p21/CDKN1A promoter; Armadillo-like helical domain containing 9606.ENSP00000317997 DUOX1 1551 Dual oxidase 1; Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain; EF-hand domain containing 9606.ENSP00000318016 KIAA0196 1159 WASH complex subunit 5; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. Involved in cellular localization of ADRB2. Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 9606.ENSP00000318029 ODF3L2 289 Outer dense fiber of sperm tails 3 like 2 9606.ENSP00000318032 RPRML 120 Reprimo-like protein; Reprimo like 9606.ENSP00000318057 EGR3 387 Early growth response protein 3; Probable transcription factor involved in muscle spindle development; Belongs to the EGR C2H2-type zinc-finger protein family 9606.ENSP00000318066 ENPP4 453 Bis(5'-adenosyl)-triphosphatase ENPP4; Hydrolyzes extracellular Ap3A into AMP and ADP, and Ap4A into AMP and ATP. Ap3A and Ap4A are diadenosine polyphosphates thought to induce proliferation of vascular smooth muscle cells. Acts as a procoagulant, mediating platelet aggregation at the site of nascent thrombus via release of ADP from Ap3A and activation of ADP receptors 9606.ENSP00000318077 MC5R 325 Melanocortin receptor 5; Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. This receptor is a possible mediator of the immunomodulation properties of melanocortins; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000318085 HINFP 517 Histone H4 transcription factor; Transcriptional repressor that binds to the consensus sequence 5'-CGGACGTT-3' and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter; Zinc fingers C2H2-type 9606.ENSP00000318086 MAP7D3 876 MAP7 domain-containing protein 3; Promotes the assembly and stability of microtubules 9606.ENSP00000318094 SCMH1 660 Polycomb protein SCMH1; Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes; Belongs to the SCM family 9606.ENSP00000318113 CLDN22 220 Claudin-22; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000318119 C9orf139 190 Uncharacterized protein C9orf139; Chromosome 9 open reading frame 139 9606.ENSP00000318128 BLOC1S4 217 Biogenesis of lysosome-related organelles complex 1 subunit 4; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking; Belongs to th [...] 9606.ENSP00000318131 PNMAL1 439 Paraneoplastic antigen-like protein 8A; Paraneoplastic Ma antigen family-like 1 9606.ENSP00000318142 FUT7 342 Alpha-(1,3)-fucosyltransferase 7; Catalyzes alpha-1,3 glycosidic linkages involved in the expression of sialyl Lewis X antigens; Belongs to the glycosyltransferase 10 family 9606.ENSP00000318147 EDEM3 932 ER degradation-enhancing alpha-mannosidase-like protein 3; Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans. Seems to have alpha 1,2-mannosidase activity (By similarity) 9606.ENSP00000318154 MRFAP1L1 127 Morf4 family associated protein 1 like 1 9606.ENSP00000318158 MRPS24 167 Mitochondrial ribosomal protein S24; Belongs to the universal ribosomal protein uS3 family 9606.ENSP00000318165 OS9 667 Protein OS-9; Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins, retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4; MRH domain containing 9606.ENSP00000318176 PRKRA 313 Interferon-inducible double-stranded RNA-dependent protein kinase activator A; Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post- transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances its activity i [...] 9606.ENSP00000318177 FUBP3 572 Far upstream element-binding protein 3; May interact with single-stranded DNA from the far- upstream element (FUSE). May activate gene expression 9606.ENSP00000318195 NCL 710 Nucleolin; Nucleolin is the major nucleolar protein of growing eukaryotic cells. It is found associated with intranucleolar chromatin and pre-ribosomal particles. It induces chromatin decondensation by binding to histone H1. It is thought to play a role in pre-rRNA transcription and ribosome assembly. May play a role in the process of transcriptional elongation. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats 9606.ENSP00000318197 TUBA3E 450 Tubulin alpha-3E chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity); Belongs to the tubulin family 9606.ENSP00000318222 ZDHHC22 263 Palmitoyltransferase ZDHHC22; Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane; Zinc fingers DHHC-type 9606.ENSP00000318234 COL26A1 441 Collagen type XXVI alpha 1 chain; Collagens 9606.ENSP00000318258 CSRNP3 585 Cysteine/serine-rich nuclear protein 3; Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity. Plays a role in apoptosis (By similarity); Protein phosphatase 1 regulatory subunits 9606.ENSP00000318264 ELMOD3 391 ELMO domain-containing protein 3; Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity; Deafness associated genes 9606.ENSP00000318270 PROM2 834 Prominin-2; Prominin 2 9606.ENSP00000318297 RUVBL1 456 RuvB-like 1; May be able to bind plasminogen at cell surface and enhance plasminogen activation; AAA ATPases 9606.ENSP00000318298 FAM46A 442 Putative nucleotidyltransferase FAM46A; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase; Belongs to the FAM46 family 9606.ENSP00000318318 MPI 423 Mannose-6-phosphate isomerase; Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions; Belongs to the mannose-6-phosphate isomerase type 1 family 9606.ENSP00000318351 BCKDHB 392 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3) 9606.ENSP00000318352 MRFAP1 127 Morf4 family associated protein 1 9606.ENSP00000318355 AQP10 301 Aquaporin-10; Water channel required to promote glycerol permeability and water transport across cell membranes. May contribute to water transport in the upper portion of small intestine. Isoform 2 is not permeable to urea and glycerol; Belongs to the MIP/aquaporin (TC 1.A.8) family 9606.ENSP00000318373 ZNF513 541 Zinc finger protein 513; Transcriptional regulator that plays a role in retinal development and maintenance; Zinc fingers C2H2-type 9606.ENSP00000318374 LENG8 800 Leukocyte receptor cluster member 8 9606.ENSP00000318406 KIAA0319L 1049 Dyslexia-associated protein KIAA0319-like protein; Possible role in axon guidance through interaction with RTN4R 9606.ENSP00000318423 LINS 757 Lines homolog (Drosophila) 9606.ENSP00000318429 CCDC114 670 Coiled-coil domain-containing protein 114; Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms; Belongs to the ODA1/DCC2 family 9606.ENSP00000318437 FDCSP 85 Follicular dendritic cell secreted peptide; Can bind to the surface of B-lymphoma cells, but not T- lymphoma cells, consistent with a function as a secreted mediator acting upon B-cells 9606.ENSP00000318480 YME1L1 773 ATP-dependent zinc metalloprotease YME1L1; ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region. Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism. Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects [...] 9606.ENSP00000318486 CDK5R1 307 Cyclin-dependent kinase 5 activator 1; P35 is a neuron specific activator of CDK5. The complex p35/CDK5 is required for neurite outgrowth and cortical lamination. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. Activator of TPKII. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at 'Thr-451' and 'Thr-461' and regulates the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer in association with altered stability and subcellular distribution 9606.ENSP00000318585 BACE1 501 Beta-secretase 1; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves at the N-terminus of the A-beta peptide sequence, between residues 671 and 672 of APP, leads to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase; Belongs to the peptidase A1 family 9606.ENSP00000318602 PRTFDC1 225 Phosphoribosyltransferase domain-containing protein 1; Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage; Belongs to the purine/pyrimidine phosphoribosyltransferase family 9606.ENSP00000318604 MAF1 256 Repressor of RNA polymerase III transcription MAF1 homolog; Element of the mTORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA 9606.ENSP00000318607 LDLRAD3 345 Low-density lipoprotein receptor class A domain-containing protein 3; May influence APP processing, resulting in a decrease in sAPP-alpha production and increased amyloidogenic P3 peptide production 9606.ENSP00000318615 TRIM73 250 Tripartite motif containing 73; Belongs to the TRIM/RBCC family 9606.ENSP00000318629 VPS37A 397 Vacuolar protein sorting-associated protein 37A; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation 9606.ENSP00000318635 SUMO4 95 Small ubiquitin-related modifier 4; Ubiquitin-like protein which can be covalently attached to target lysines as a monomer. Does not seem to be involved in protein degradation and may modulate protein subcellular localization, stability or activity. Upon oxidative stress, conjugates to various anti-oxidant enzymes, chaperones, and stress defense proteins. May also conjugate to NFKBIA, TFAP2A and FOS, negatively regulating their transcriptional activity, and to NR3C1, positively regulating its transcriptional activity. Covalent attachment to its substrates requires prior activation by t [...] 9606.ENSP00000318641 INTS3 1042 Integrator complex subunit 3; Component of the Integrator (INT) complex. The Integrator complex is involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex 9606.ENSP00000318646 RPS15A 130 Ribosomal protein S15a; Belongs to the universal ribosomal protein uS8 family 9606.ENSP00000318650 GREM2 168 Gremlin-2; Cytokine that inhibits the activity of BMP2 and BMP4 in a dose-dependent manner, and thereby modulates signaling by BMP family members. Contributes to the regulation of embryonic morphogenesis via BMP family members. Antagonizes BMP4-induced suppression of progesterone production in granulosa cells 9606.ENSP00000318684 VSIG2 327 V-set and immunoglobulin domain containing 2 9606.ENSP00000318687 HSPH1 858 Heat shock protein 105 kDa; Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release. Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity); Heat shock 70kDa proteins 9606.ENSP00000318690 GCFC2 781 GC-rich sequence DNA-binding factor 2; Factor that represses transcription. It binds to the GC- rich sequences (5'-GCGGGGC-3') present in the epidermal growth factor receptor, beta-actin, and calcium-dependent protease promoters. Involved in pre-mRNA splicing through regulating spliceosome C complex formation. May play a role during late-stage splicing events and turnover of excised inrons; Belongs to the GCF family 9606.ENSP00000318697 TUBB6 446 Tubulin beta-6 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity); Belongs to the tubulin family 9606.ENSP00000318716 FAM9B 186 Protein FAM9B; Family with sequence similarity 9 member B; Belongs to the FAM9 family 9606.ENSP00000318770 AQP11 271 Aquaporin-11; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes 9606.ENSP00000318799 BHLHE22 381 Class E basic helix-loop-helix protein 22; Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealiza [...] 9606.ENSP00000318803 SYTL2 935 Synaptotagmin-like protein 2; Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol- 4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon- containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive; Protein phosphatase 1 regulatory subunits 9606.ENSP00000318804 CRLF3 442 Cytokine receptor-like factor 3; May play a role in the negative regulation of cell cycle progression; Fibronectin type III domain containing 9606.ENSP00000318820 TPO 933 Thyroid peroxidase; Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4); Belongs to the peroxidase family. XPO subfamily 9606.ENSP00000318821 GCC1 775 GRIP and coiled-coil domain-containing protein 1; Probably involved in maintaining Golgi structure 9606.ENSP00000318822 BID 241 BH3-interacting domain death agonist; The major proteolytic product p15 BID allows the release of cytochrome c (By similarity). Isoform 1, isoform 2 and isoform 4 induce ICE-like proteases and apoptosis. Isoform 3 does not induce apoptosis. Counters the protective effect of Bcl-2; BCL2 homology region 3 only 9606.ENSP00000318834 OR10H4 316 Olfactory receptor 10H4; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000318861 SF3B2 895 Splicing factor 3B subunit 2; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron; Armadillo-like helical d [...] 9606.ENSP00000318867 CYP8B1 501 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase; Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha- hydroxylated C27 steroids; Cytochrome P450 family 8 9606.ENSP00000318868 SHMT1 483 Serine hydroxymethyltransferase, cytosolic; Interconversion of serine and glycine 9606.ENSP00000318878 OR4F21 312 Olfactory receptor 4F21; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000318884 FMN2 1722 Formin-2; Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization. Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CD [...] 9606.ENSP00000318900 SOBP 873 Sine oculis-binding protein homolog; Implicated in development of the cochlea 9606.ENSP00000318912 CA13 262 Carbonic anhydrase 13; Reversible hydration of carbon dioxide; Carbonic anhydrases 9606.ENSP00000318914 PNMA1 353 Paraneoplastic Ma antigens; Belongs to the PNMA family 9606.ENSP00000318916 MARCO 520 Macrophage receptor MARCO; Pattern recognition receptor (PRR) which binds Gram- positive and Gram-negative bacteria. Also plays a role in binding of unopsonized particles by alveolar macrophages (By similarity). Binds to the secretoglobin SCGB3A2; Scavenger receptor cysteine rich domain containing 9606.ENSP00000318944 TRAF7 670 E3 ubiquitin-protein ligase TRAF7; E3 ubiquitin ligase capable of auto-ubiquitination, following phosphorylation by MAP3K3. Potentiates MEKK3-mediated activation of the NF-kappa-B, JUN/AP1 and DDIT3 transcriptional regulators. Induces apoptosis when overexpressed; Belongs to the WD repeat TRAF7 family 9606.ENSP00000318956 OR52K2 314 Olfactory receptor 52K2; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000318960 SLC35C2 394 Solute carrier family 35 member C2; May play an important role in the cellular response to tissue hypoxia. May be either a GDP-fucose transporter that competes with SLC35C1 for GDP-fucose, or a factor that otherwise enhances the fucosylation of Notch and is required for optimal Notch signaling in mammalian cells; Solute carriers 9606.ENSP00000318966 PINX1 328 PIN2/TERF1-interacting telomerase inhibitor 1; Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor; Belongs to the PINX1 family 9606.ENSP00000318974 FAM133A 248 Protein FAM133A; Family with sequence similarity 133 member A 9606.ENSP00000318977 GEN1 908 Flap endonuclease GEN homolog 1; Endonuclease which resolves Holliday junctions by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation 9606.ENSP00000318982 EPSTI1 410 Epithelial stromal interaction 1 9606.ENSP00000318986 NSUN3 340 tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial; Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met). mt-tRNA(Met) methylation at cytosine(34) takes place at the wobble position of the anticodon and initiates the formation of 5-formylcytosine (f(5)c) at this position. mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation; Belongs to the class I-like SAM-bindin [...] 9606.ENSP00000318997 OR11H4 324 Olfactory receptor 11H4; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000318999 C11orf16 467 Uncharacterized protein C11orf16; Chromosome 11 open reading frame 16 9606.ENSP00000319006 CCDC71 467 Coiled-coil domain containing 71 9606.ENSP00000319009 TMEM45A 275 Transmembrane protein 45A; Belongs to the TMEM45 family 9606.ENSP00000319052 CETN1 172 Centrin-1; Plays a fundamental role in microtubule-organizing center structure and function; EF-hand domain containing 9606.ENSP00000319053 ZNF77 545 Zinc finger protein 77; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000319060 CAMK2G 556 Calcium/calmodulin-dependent protein kinase type II subunit gamma; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplsamic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow- twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-co [...] 9606.ENSP00000319071 OR11H6 330 Olfactory receptor 11H6; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000319096 RAP2B 183 Ras-related protein Rap-2b; Small GTP-binding protein which cycles between a GDP- bound inactive and a GTP-bound active form. Involved in EGFR and CHRM3 signaling pathways through stimulation of PLCE1. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May regulate membrane vesiculation in red blood cells; RAS type GTPase family 9606.ENSP00000319104 SUPT6H 1726 Transcription elongation factor SPT6; Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex r [...] 9606.ENSP00000319118 GSX2 304 GS homeobox 2; During telencephalic development, causes ventralization of pallial progenitors and, depending on the developmental stage, specifies different neuronal fates. At early stages, necessary and sufficient to correctly specify the ventral lateral ganglionic eminence (LGE) and its major derivatives, the striatal projection neurons. At later stages, may specify LGE progenitors toward dorsal LGE fates, including olfactory bulb interneurons (By similarity). Transcription factor that binds 5'-CNAATTAG-3' DNA sequence; HOXL subclass homeoboxes 9606.ENSP00000319126 DEFB112 113 Beta-defensin 112; Has antibacterial activity; Defensins, beta 9606.ENSP00000319140 PSG11 335 Pregnancy specific beta-1-glycoprotein 11 9606.ENSP00000319141 CYBRD1 286 Cytochrome b reductase 1; Ferric-chelate reductase that reduces Fe(3+) to Fe(2+). Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe(3+) thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells; Cytochrome b561 9606.ENSP00000319169 PRMT5 637 Protein arginine N-methyltransferase 5; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Methylates SUPT5H and may regulate its transcriptional elongation properties. Mono- and dimethylates arginine residues of myelin b [...] 9606.ENSP00000319179 KDF1 398 Keratinocyte differentiation factor 1; Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity) 9606.ENSP00000319192 STK17A 414 Serine/threonine-protein kinase 17A; Acts as a positive regulator of apoptosis. Also acts as a regulator of cellular reactive oxygen species; Death associated protein kinases 9606.ENSP00000319197 OR4K17 343 Olfactory receptor 4K17; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000319217 OR4L1 312 Olfactory receptor 4L1; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000319222 ZNF720 126 Putative protein ZNF720; Zinc finger protein 720; Zinc fingers C2H2-type 9606.ENSP00000319231 PHLDA2 152 Pleckstrin homology-like domain family A member 2; Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids (By similarity); Belongs to the PHLDA2 family 9606.ENSP00000319240 MAGOHB 148 Protein mago nashi homolog 2; Involved in mRNA splicing and in the nonsense-mediated decay (NMD) pathway 9606.ENSP00000319250 GPR62 368 Probable G-protein coupled receptor 62; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000319254 GIPC3 312 PDZ domain-containing protein GIPC3; Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion; Deafness associated genes 9606.ENSP00000319255 CHORDC1 332 Cysteine and histidine-rich domain-containing protein 1; Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Involved in stress response. Prevents tumorigenesis 9606.ENSP00000319279 MALT1 824 Mucosa-associated lymphoid tissue lymphoma translocation protein 1; Enhances BCL10-induced activation of NF-kappa-B. Involved in nuclear export of BCL10. Binds to TRAF6, inducing TRAF6 oligomerization and activation of its ligase activity. Has ubiquitin ligase activity. MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion; Belongs to the peptidase C14B family 9606.ENSP00000319281 BASP1 227 Brain abundant membrane attached signal protein 1; Belongs to the BASP1 family 9606.ENSP00000319305 ZNF572 529 Zinc finger protein 572; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000319322 OR4K13 304 Olfactory receptor 4K13; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000319341 LSM10 123 U7 snRNA-associated Sm-like protein LSm10; Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing. Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to U7 snRNA. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner; LSm proteins 9606.ENSP00000319370 KCNMB3 279 Calcium-activated potassium channel subunit beta-3; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of [...] 9606.ENSP00000319388 MAMDC4 1137 Apical endosomal glycoprotein; Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia 9606.ENSP00000319412 ARMC10 343 Armadillo repeat-containing protein 10; May play a role in cell survival and cell growth. May suppress the transcriptional activity of p53/TP53; Armadillo repeat containing 9606.ENSP00000319417 SKA3 412 Spindle and kinetochore-associated protein 3; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it mediates the microtubule-stimulated oligomerization. Affinity for microtubules is synergistically enhanced in the p [...] 9606.ENSP00000319464 CPN2 545 Carboxypeptidase N subunit 2; The 83 kDa subunit binds and stabilizes the catalytic subunit at 37 degrees Celsius and keeps it in circulation. Under some circumstances it may be an allosteric modifier of the catalytic subunit; M14 carboxypeptidases 9606.ENSP00000319476 ICOS 199 Inducible T-cell costimulator; Enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, up- regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Does not up- regulate the production of interleukin-2, but superinduces the synthesis of interleukin-10. Prevents the apoptosis of pre- activated T-cells. Plays a critical role in CD40-mediated class switching [...] 9606.ENSP00000319482 DCUN1D3 304 DCN1-like protein 3; Antagonizes DCUN1D1-mediated CUL1 neddylation by sequestering CUL1 at the cell membrane. When overexpressed in transformed cells, may promote mesenchymal to epithelial-like changes and inhibit colony formation in soft agar 9606.ENSP00000319486 TSPAN16 245 Tetraspanin-16; Tetraspanin 16; Tetraspanins 9606.ENSP00000319501 UGDH 494 UDP-glucose 6-dehydrogenase; Involved in the biosynthesis of glycosaminoglycans; hyaluronan, chondroitin sulfate, and heparan sulfate 9606.ENSP00000319511 OR4K5 323 Olfactory receptor 4K5; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000319531 GCSH 173 Glycine cleavage system H protein, mitochondrial; The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST); Belongs to the GcvH family 9606.ENSP00000319546 OR2A4 310 Olfactory receptor 2A4; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000319590 PRR18 295 Proline-rich protein 18; Proline rich 18 9606.ENSP00000319591 KCND3 655 Potassium voltage-gated channel subfamily D member 3; Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits; Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.3/KCND3 sub-subfamily 9606.ENSP00000319597 SNAPC5 98 snRNA-activating protein complex subunit 5; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box 9606.ENSP00000319601 OR4N2 307 Olfactory receptor 4N2; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000319622 SULT1C2 307 Sulfotransferase 1C2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of drugs, xenobiotic compounds, hormones, and neurotransmitters. May be involved in the activation of carcinogenic hydroxylamines. Shows activity towards p-nitrophenol and N-hydroxy-2-acetylamino-fluorene (N-OH-2AAF); Sulfotransferases, cytosolic 9606.ENSP00000319623 IGDCC4 1250 Immunoglobulin superfamily DCC subclass member 4; Belongs to the immunoglobulin superfamily. DCC family 9606.ENSP00000319635 CXCR2 360 C-X-C chemokine receptor type 2; Receptor for interleukin-8 which is a powerful neutrophil chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. Binds to IL-8 with high affinity. Also binds with high affinity to CXCL3, GRO/MGSA and NAP-2 9606.ENSP00000319636 B3GNT4 378 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides; Belongs to the glycosyltransferase 31 family 9606.ENSP00000319651 DMRTA1 504 Doublesex- and mab-3-related transcription factor A1; DMRT like family A1; Belongs to the DMRT family 9606.ENSP00000319654 OR4M1 313 Olfactory receptor 4M1; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000319664 NUDC 331 Nuclear migration protein nudC; Plays a role in neurogenesis and neuronal migration (By similarity). Necessary for correct formation of mitotic spindles and chromosome separation during mitosis. Necessary for cytokinesis and cell proliferation; NudC family 9606.ENSP00000319673 GPR89A 455 G protein-coupled receptor 89A; Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance; Belongs to the Golgi pH regulator (TC 1.A.38) family 9606.ENSP00000319705 DUOXA2 320 Dual oxidase maturation factor 2; Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX2. May play a role in thyroid hormone synthesis; Belongs to the DUOXA family 9606.ENSP00000319713 AGTRAP 159 Type-1 angiotensin II receptor-associated protein; Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity 9606.ENSP00000319726 FRMD8 464 FERM domain containing 8 9606.ENSP00000319730 PRSS8 343 Prostasin; Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G); Serine proteases 9606.ENSP00000319739 RCN2 335 Reticulocalbin-2; Not known. Binds calcium; EF-hand domain containing 9606.ENSP00000319744 GPR4 362 G-protein coupled receptor 4; Proton-sensing receptor coupled to several G-proteins, including G(s), G(13) and G(q)/G(11) proteins, leading to cAMP production; G protein-coupled receptors, Class A orphans 9606.ENSP00000319756 TENC1 1419 Tensin-2; Regulates cell motility and proliferation. May have phosphatase activity. Reduces AKT1 phosphorylation. Lowers AKT1 kinase activity and interferes with AKT1 signaling 9606.ENSP00000319781 RAB43 212 Ras-related protein Rab-43; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. The low intrinsic GTPase activity of RAB43 is activated by USP6NL. Involved in retrograde transport from the endocytic pathway to the Golgi apparatus. Involved in the transport of Shiga [...] 9606.ENSP00000319788 NQO1 274 NAD(P)H dehydrogenase [quinone] 1; The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinons involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis; Belongs to the NAD(P)H dehydrogenase (quinone) family 9606.ENSP00000319796 SERINC4 518 Serine incorporator 4; Incorporates a polar amino acid serine into membranes and facilitates the synthesis of two serine-derived lipids, phosphatidylserine and sphingolipids 9606.ENSP00000319799 H1FOO 346 Histone H1oo; May play a key role in the control of gene expression during oogenesis and early embryogenesis, presumably through the perturbation of chromatin structure. Essential for meiotic maturation of germinal vesicle-stage oocytes. The somatic type linker histone H1c is rapidly replaced by H1oo in a donor nucleus transplanted into an oocyte. The greater mobility of H1oo as compared to H1c may contribute to this rapid replacement and increased instability of the embryonic chromatin structure. The rapid replacement of H1c with H1oo may play an important role in nuclear remodeling ( [...] 9606.ENSP00000319814 PCK1 622 Phosphoenolpyruvate carboxykinase, cytosolic [GTP]; Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle; Belongs to the phosphoenolpyruvate carboxykinase [GTP] family 9606.ENSP00000319817 OPA3 180 Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); OPA3, outer mitochondrial membrane lipid metabolism regulator 9606.ENSP00000319829 ZNF687 1237 Zinc finger protein 687; May be involved in transcriptional regulation 9606.ENSP00000319831 DEF6 631 Differentially expressed in FDCP 6 homolog; Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity); Pleckstrin homology domain containing 9606.ENSP00000319851 CHDH 594 Choline dehydrogenase, mitochondrial; Choline dehydrogenase 9606.ENSP00000319883 EMR2 823 Adhesion G protein-coupled receptor E2; Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G- proteins. Is a regulator of mast cell degranulation; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000319914 C8orf4 106 Transcriptional and immune response regulator; Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1. Enhances the proliferation of follicular dendritic cells. Plays a role in the mitogen- activated MAPK2/3 signaling pathway, positively regulates G1-to-S- phase transition of the cell cycle. In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transc [...] 9606.ENSP00000319918 ITFG1 612 T-cell immunomodulatory protein; Modulator of T-cell function. Has a protective effect in graft versus host disease model (By similarity); Belongs to the TIP family 9606.ENSP00000319974 BBX 941 HMG box transcription factor BBX; Transcription factor that is necessary for cell cycle progression from G1 to S phase 9606.ENSP00000319979 B3GNTL1 361 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1; Putative glycosyltransferase; Glycosyltransferase family 2 9606.ENSP00000319991 SLC16A6 523 Monocarboxylate transporter 7; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Solute carriers 9606.ENSP00000319992 TMEM11 192 Transmembrane protein 11, mitochondrial; Plays a role in mitochondrial morphogenesis; Belongs to the TMEM11 family 9606.ENSP00000320025 CACNB2 660 Voltage-dependent L-type calcium channel subunit beta-2; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting 9606.ENSP00000320038 ARHGAP33 1126 Rho GTPase-activating protein 33; May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity); Belongs to the PX domain-containing GAP family 9606.ENSP00000320043 LYPLA1 230 Acyl-protein thioesterase 1; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Has depalmitoylating activity toward KCNMA1. Has low lysophospholipase activity; Belongs to the AB hydrolase superfamily. AB hydrolase 2 family 9606.ENSP00000320077 OR4D11 311 Olfactory receptor 4D11; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000320081 C3orf58 430 Deleted in autism protein 1; May play a role in cardiomyocyte proliferation through paracrine signaling and activation of the PPI3K-AKT-CDK7 signaling cascade; Belongs to the DIA1 family 9606.ENSP00000320084 CD276 534 CD276 antigen; May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulat [...] 9606.ENSP00000320089 NKX2-6 301 Homeobox protein Nkx-2.6; Acts as a transcriptional activator. In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000320092 SH3GL3 355 Endophilin-A3; Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity); N-BAR domain containing 9606.ENSP00000320096 ZNF784 323 Zinc finger protein 784; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000320117 TRIP10 601 Cdc42-interacting protein 4; Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N- WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form en [...] 9606.ENSP00000320130 DYNC1I1 645 Cytoplasmic dynein 1 intermediate chain 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150- glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kin [...] 9606.ENSP00000320147 EZH2 751 Histone-lysine N-methyltransferase EZH2; Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys- 27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2. Compared to EZH1-containing complexes, it is [...] 9606.ENSP00000320171 PKM 531 Pyruvate kinase PKM; Glycolytic enzyme that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP. Stimulates POU5F1-mediated transcriptional activation. Plays a general role in caspase independent cell death of tumor cells. The ratio between the highly active tetrameric form and nearly inactive dimeric form determines whether glucose carbons are channeled to biosynthetic processes or used for glycolytic ATP production. The transition between the 2 forms contributes to the control of glycolysis and is important for tumor cell proliferation a [...] 9606.ENSP00000320176 HCLS1 486 Hematopoietic lineage cell-specific protein; Substrate of the antigen receptor-coupled tyrosine kinase. Plays a role in antigen receptor signaling for both clonal expansion and deletion in lymphoid cells. May also be involved in the regulation of gene expression 9606.ENSP00000320180 GHRHR 423 Growth hormone-releasing hormone receptor; Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion; Belongs to the G-protein coupled receptor 2 family 9606.ENSP00000320184 MRPS23 190 Mitochondrial ribosomal protein S23; Belongs to the mitochondrion-specific ribosomal protein mS23 family 9606.ENSP00000320188 ZNF579 562 Zinc finger protein 579; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000320209 CIDEA 219 Cell death activator CIDE-A; Acts as a CEBPB coactivator in mammary epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein. By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter (By similarity). Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid tran [...] 9606.ENSP00000320217 SLC26A10 563 Solute carrier family 26 member 10; Chloride/bicarbonate exchanger; Solute carriers 9606.ENSP00000320219 ARSJ 599 Arylsulfatase family member J; Sulfatases 9606.ENSP00000320232 CCDC168 7081 Coiled-coil domain containing 168 9606.ENSP00000320236 TIMM22 194 Mitochondrial import inner membrane translocase subunit Tim22; Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity); Belongs to the Tim17/Tim22/Tim23 family 9606.ENSP00000320239 TRPM7 1865 Transient receptor potential cation channel subfamily M member 7; Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF- induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin [...] 9606.ENSP00000320246 SLC9A9 645 Sodium/hydrogen exchanger 9; May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell; Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family 9606.ENSP00000320251 C3orf17 567 Nucleolus and neural progenitor protein; May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development 9606.ENSP00000320291 OSBPL1A 950 Oxysterol-binding protein-related protein 1; Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3- phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A. Binds 25-hydroxycholesterol and cholesterol; Belongs to the OSBP family 9606.ENSP00000320295 ENSG00000258947 450 Tubulin beta-3 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper axon guidance and mantainance; Belongs to the tubulin family 9606.ENSP00000320302 OR5AN1 311 Olfactory receptor 5AN1; Odorant receptor involved in the detection of muscone; Olfactory receptors, family 5 9606.ENSP00000320309 FARSA 508 phenylalanyl-tRNA synthetase alpha subunit; Aminoacyl tRNA synthetases, Class II 9606.ENSP00000320318 NEU4 497 Sialidase-4; May function in lysosomal catabolism of sialylated glycoconjugates. Has sialidase activity towards synthetic substrates, such as 2'-(4-methylumbelliferyl)-alpha-D-N- acetylneuraminic acid (4-MU-NANA or 4MU-NeuAc). Has a broad substrate specificity being active on glycoproteins, oligosaccharides and sialylated glycolipids 9606.ENSP00000320324 NPEPPS 919 Puromycin-sensitive aminopeptidase; Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Digests tau from normal brain more efficiently than tau from Alzheimer disease brain; Aminopeptidases 9606.ENSP00000320337 PLA2G16 162 HRAS-like suppressor 3; Lipid-modifying enzyme that acts as major regulator of adipocyte lipolysis by catalyzing the release of fatty acids from phospholipids in adipose tissue. Shows phospholipase A1 and A2 activity, catalyzing the calcium- independent hydrolysis of acyl groups in various phosphatidylcholines (PC) and phosphatidylethanolamine (PE). For most substrates, phospholipase A1 activity is much higher than phospholipase A2 activity. Phospholipase activity causes decreased intracellular levels of ether-type lipids, affecting peroxisome metabolism (By similarity). May also have [...] 9606.ENSP00000320346 ELL3 397 RNA polymerase II elongation factor ELL3; Enhancer-binding elongation factor that specifically binds enhancers in embryonic stem cells (ES cells), marks them, and is required for their future activation during stem cell specification. Does not only bind to enhancer regions of active genes, but also marks the enhancers that are in a poised or inactive state in ES cells and is required for establishing proper RNA polymerase II occupancy at developmentally regulated genes in a cohesin-dependent manner. Probably required for priming developmentally regulated genes for later recruitment of [...] 9606.ENSP00000320347 ZFP3 502 Zinc finger protein 3 homolog; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000320359 IFT22 185 Intraflagellar transport protein 22 homolog; Small GTPase-like component of the intraflagellar transport (IFT) complex B; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000320376 P2RY13 354 P2Y purinoceptor 13; Receptor for ADP. Coupled to G(i)-proteins. May play a role in hematopoiesis and the immune system; P2Y receptors 9606.ENSP00000320378 SLC7A8 535 Large neutral amino acids transporter small subunit 2; Sodium-independent, high-affinity transport of small and large neutral amino acids such as alanine, serine, threonine, cysteine, phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Acts as an amino acid exchanger. Has higher affinity for L-phenylalanine than LAT1 but lower affinity for glutamine and serine. L-alanine is transported at physiological concentrations. Plays a role in basolateral (re)absorption of neutral amino acids. Involved in the uptake of methylmercury (MeHg) when administe [...] 9606.ENSP00000320401 UGT2B17 530 UDP-glucuronosyltransferase 2B17; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT); Minor histocompatibility antigens 9606.ENSP00000320416 VPS37D 251 Vacuolar protein sorting-associated protein 37D; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation; Belongs to the VPS37 family 9606.ENSP00000320430 S100Z 99 S100 calcium binding protein Z; EF-hand domain containing 9606.ENSP00000320431 ST8SIA3 380 Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase; Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid; Belongs to the glycosyltransferase 29 family 9606.ENSP00000320434 CTNNAL1 734 Alpha-catulin; May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1) 9606.ENSP00000320485 ARID1A 2285 AT-rich interactive domain-containing protein 1A; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural devel [...] 9606.ENSP00000320488 NAP1L5 182 Nucleosome assembly protein 1 like 5 9606.ENSP00000320503 EDC3 508 Enhancer of mRNA-decapping protein 3; Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis 9606.ENSP00000320508 RNF185 192 E3 ubiquitin-protein ligase RNF185; E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating 'Lys-63'-linked polyubiquitination of BNIP1. Acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis. Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway. Preferentially associates with the E2 enzymes UB [...] 9606.ENSP00000320509 BANK1 785 B-cell scaffold protein with ankyrin repeats; Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2; Ankyrin repeat domain containing 9606.ENSP00000320520 LRRC75B 315 Leucine-rich repeat-containing protein 75B; Leucine rich repeat containing 75B 9606.ENSP00000320521 FAM3A 244 Protein FAM3A; May act as a defensin against invading fungal microorganisms; Belongs to the FAM3 family 9606.ENSP00000320532 WFDC9 89 Protein WFDC9; WAP four-disulfide core domain containing 9606.ENSP00000320543 EPN2 641 Epsin-2; Plays a role in the formation of clathrin-coated invaginations and endocytosis 9606.ENSP00000320560 OR2D3 330 Olfactory receptor 2D3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000320563 WDFY4 3184 WD repeat- and FYVE domain-containing protein 4; Armadillo-like helical domain containing 9606.ENSP00000320566 ING3 418 Inhibitor of growth protein 3; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicat [...] 9606.ENSP00000320604 FAXDC2 333 Fatty acid hydroxylase domain containing 2; Belongs to the sterol desaturase family 9606.ENSP00000320634 SLCO3A1 710 Solute carrier organic anion transporter family member 3A1; Mediates the Na(+)-independent transport of organic anions such as estrone-3-sulfate. Mediates transport of prostaglandins (PG) E1 and E2, thyroxine (T4), deltorphin II, BQ-123 and vasopressin, but not DPDPE (a derivative of enkephalin lacking an N-terminal tyrosine residue), estrone-3- sulfate, taurocholate, digoxin nor DHEAS; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000320648 KIAA1875 1622 WD repeat-containing protein 97; KIAA1875 9606.ENSP00000320649 CCDC89 374 Coiled-coil domain containing 89; Belongs to the CCDC89 family 9606.ENSP00000320650 DNAJC25 360 DnaJ heat shock protein family member C25; Belongs to the DNAJC25 family 9606.ENSP00000320658 YARS2 477 Tyrosine--tRNA ligase, mitochondrial; Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr- AMP and then transferred to the acceptor end of tRNA(Tyr); Belongs to the class-I aminoacyl-tRNA synthetase family 9606.ENSP00000320663 EML4 981 Echinoderm microtubule-associated protein-like 4; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic; Belongs to the WD repeat EMAP family 9606.ENSP00000320679 STX19 294 Syntaxin-19; Syntaxin 19; Belongs to the syntaxin family 9606.ENSP00000320688 SLC25A36 311 Solute carrier family 25 member 36; Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Transports preferentially cytosine and uracil (deoxy)nucleoside mono-, di-, and triphosphates by uniport and antiport mechanism. Also transports guanine but not adenine (deoxy)nucleotides. Is inhibited strongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10- phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate). Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potenti [...] 9606.ENSP00000320757 TMEM150B 233 Modulator of macroautophagy TMEM150B; Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux. Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner. May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival; Belongs to the DRAM/TMEM150 family 9606.ENSP00000320794 KIAA2018 2245 Basic helix-loop-helix domain-containing protein USF3; Involved in the negative regulation of epithelial- mesenchymal transition, the process by which epithelial cells lose their polarity and adhesion properties to become mesenchymal cells with enhanced migration and invasive properties 9606.ENSP00000320797 TUBD1 453 Tubulin delta chain; In the elongating spermatid it is associated with the manchette, a specialized microtubule system present during reshaping of the sperm head; Tubulins 9606.ENSP00000320813 DEFB104A 72 Defensin, beta 104A; Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103; Defensins, beta 9606.ENSP00000320815 GDPD4 520 Glycerophosphodiester phosphodiesterase domain containing 4; Belongs to the glycerophosphoryl diester phosphodiesterase family 9606.ENSP00000320821 KIF1C 1103 Kinesin-like protein KIF1C; Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end- directed motility; Kinesins 9606.ENSP00000320849 CCDC184 194 Coiled-coil domain containing 184 9606.ENSP00000320866 CALR 417 Calreticulin; Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export. Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity) 9606.ENSP00000320869 TRIM41 630 E3 ubiquitin-protein ligase TRIM41; Functions as an E3 ligase that catalyzes the ubiquitin- mediated degradation of protein kinase C; Ring finger proteins 9606.ENSP00000320886 MLXIPL 852 Carbohydrate-responsive element-binding protein; Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000320893 ASB8 288 Ankyrin repeat and SOCS box protein 8; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Ankyrin repeat domain containing 9606.ENSP00000320898 RNF168 571 E3 ubiquitin-protein ligase RNF168; E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8- dependent H2A ubiquitination, promoting the formation of 'Lys-63'- linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recr [...] 9606.ENSP00000320917 KRI1 709 KRI1 homolog; Belongs to the KRI1 family 9606.ENSP00000320924 WIPF2 440 WAS/WASL-interacting protein family member 2; Plays an active role in the formation of cell surface protrusions downstream of activated PDGFB receptors. Plays an important role in actin-microspike formation through cooperation with WASL. May cooperate with WASP and WASL to induce mobilization and reorganization of the actin filament system 9606.ENSP00000320935 SLC2A4 509 Solute carrier family 2, facilitated glucose transporter member 4; Insulin-regulated facilitative glucose transporter; Solute carriers 9606.ENSP00000320936 IL17RA 866 Interleukin-17 receptor A; Receptor for IL17A. Receptor for IL17F. Binds to IL17A with higher affinity than to IL17F. Binds IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RC. Also binds heterodimers formed by IL17A and IL17F as part of a heterodimeric complex with IL17RC. Receptor for IL17C as part of a heterodimeric complex with IL17RE. Activation of IL17RA leads to induction of expression of inflammatory chemokines and cytokines such as CXCL1, CXCL8/IL8 and IL6; CD molecules 9606.ENSP00000320949 CNOT1 2376 CCR4-NOT transcription complex subunit 1; Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA- mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins mediating the complex recruitment to selected mR [...] 9606.ENSP00000320951 DEFB103A 67 Defensin, beta 103A; Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed; Defensins, beta 9606.ENSP00000320957 VGLL2 317 Transcription cofactor vestigial-like protein 2; May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles; Belongs to the vestigial family 9606.ENSP00000321005 CD300LG 332 CMRF35-like molecule 9; Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte (By similarity); V-set domain containing 9606.ENSP00000321021 C11orf42 333 Uncharacterized protein C11orf42; Chromosome 11 open reading frame 42 9606.ENSP00000321026 LURAP1L 228 Leucine rich adaptor protein 1 like 9606.ENSP00000321038 TMEM86B 226 Lysoplasmalogenase; Enzyme catalyzing the degradation of lysoplasmalogen. Lysoplasmalogens are formed by the hydrolysis of the abundant membrane glycerophospholipids plasmalogens. May control the respective levels of plasmalogens and lysoplasmalogens in cells and modulate cell membrane properties; Belongs to the TMEM86 family 9606.ENSP00000321070 ME2 584 NAD-dependent malic enzyme, mitochondrial; Malic enzyme 2; Belongs to the malic enzymes family 9606.ENSP00000321077 SIGLEC8 499 Sialic acid-binding Ig-like lectin 8; Putative adhesion molecule that mediates sialic-acid dependent binding to red blood cells. Preferentially binds to alpha-2,3-linked sialic acid. Also binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. Recognizes simultaneously epitopes having a terminal N-acetylneuraminic acid (sialic acid) and an underlying 6-O-sulfated galactose. Preferentially binds to Gal-6-sulfated sialyl-Lewis X glycan epitopes; Belongs to the immunoglobulin superfamily. SIGLEC [...] 9606.ENSP00000321106 TAC1 129 Protachykinin-1; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles; Endogenous ligands 9606.ENSP00000321132 ZNF554 538 Zinc finger protein 554; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000321179 RBM44 1052 RNA-binding protein 44; Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (By similarity); RNA binding motif containing 9606.ENSP00000321195 ATP11B 1177 Probable phospholipid-transporting ATPase IF; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane 9606.ENSP00000321196 OR56B4 319 Olfactory receptor 56B4; Odorant receptor; Olfactory receptors, family 56 9606.ENSP00000321203 TNIP2 429 TNFAIP3-interacting protein 2; Inhibits NF-kappa-B activation by blocking the interaction of RIPK1 with its downstream effector NEMO/IKBKG. Forms a ternary complex with NFKB1 and MAP3K8 but appears to function upstream of MAP3K8 in the TLR4 signaling pathway that regulates MAP3K8 activation. Involved in activation of the MEK/ERK signaling pathway during innate immune response; this function seems to be stimulus- and cell type specific. Required for stability of MAP3K8. Involved in regulation of apoptosis in endothelial cells; promotes TEK agonist-stimulated endothelial survival. May ac [...] 9606.ENSP00000321221 SH2B1 756 SH2B adapter protein 1; Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1, which in turn is phosphoryla [...] 9606.ENSP00000321239 RCHY1 261 RING finger and CHY zinc finger domain-containing protein 1; Mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including p53/TP53, P73, HDAC1 and CDKN1B. Preferentially acts on tetrameric p53/TP53. Monoubiquitinates the translesion DNA polymerase POLH. Contributes to the regulation of the cell cycle progression. Increases AR transcription factor activity; Ring finger proteins 9606.ENSP00000321242 PRNT 94 Putative testis-specific prion protein; Prion locus lncRNA, testis expressed; Long non-coding RNAs 9606.ENSP00000321246 OR56A1 318 Olfactory receptor 56A1; Odorant receptor; Olfactory receptors, family 56 9606.ENSP00000321249 SIGLECL1 197 SIGLEC family-like protein 1; Ig-like cell adhesion molecule family 9606.ENSP00000321259 TALDO1 337 Transaldolase; Transaldolase is important for the balance of metabolites in the pentose-phosphate pathway 9606.ENSP00000321260 COX8A 69 Cytochrome c oxidase subunit 8A, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000321266 PITPNB 272 Phosphatidylinositol transfer protein beta isoform; Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes; Phosphatidylinositol transfer proteins 9606.ENSP00000321271 PXMP2 195 Peroxisomal membrane protein 2; Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane 9606.ENSP00000321309 VCX2 139 Variable charge X-linked protein 2; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Variable charge X/Y family 9606.ENSP00000321320 HGH1 390 Protein HGH1 homolog; Armadillo-like helical domain containing; Belongs to the HGH1 family 9606.ENSP00000321326 F2R 425 Proteinase-activated receptor 1; High affinity receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation and in vascular development; F2R receptors 9606.ENSP00000321330 RNF144A 292 E3 ubiquitin-protein ligase RNF144A; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the ubiquitination and degradation of the DNA damage kinase PRKDC 9606.ENSP00000321334 LPA 2040 Apolipoprotein(a); Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type plasminogen activator 1. Lp(a) may be a ligand for megalin/Gp 330; Belongs to the peptidase S1 family. Plasminogen subfamily 9606.ENSP00000321338 OR4C5 326 Olfactory receptor 4C5; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000321343 ST8SIA5 376 Alpha-2,8-sialyltransferase 8E; May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively; Belongs to the glycosyltransferase 29 family 9606.ENSP00000321345 IL23R 629 Interleukin-23 receptor; Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis; Belongs to the type I cytokine receptor family. Type 2 subfamily 9606.ENSP00000321346 TTLL11 800 Tubulin polyglutamylase TTLL11; Polyglutamase which preferentially modifies alpha- tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Generates long side-chains (By similarity); Belongs to the tubulin--tyrosine ligase family 9606.ENSP00000321348 DIAPH2 1101 Protein diaphanous homolog 2; Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton; Belongs to the formin homology family. Diaphanous subfamily 9606.ENSP00000321360 C14orf177 125 Putative uncharacterized protein C14orf177; Chromosome 14 open reading frame 177 9606.ENSP00000321370 ZBED2 218 Zinc finger BED-type containing 2 9606.ENSP00000321386 FBXO39 442 F-box only protein 39; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000321388 ASB4 426 Ankyrin repeat and SOCS box protein 4; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity); Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000321419 OR4C3 329 Olfactory receptor 4C3; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000321424 SLC34A1 639 Sodium-dependent phosphate transport protein 2A; Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 70-80% of the apical influx; Belongs to the SLC34A transporter family 9606.ENSP00000321426 OR52E4 312 Olfactory receptor 52E4; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000321427 KCNH5 988 Potassium voltage-gated channel subfamily H member 5; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 sub-subfamily 9606.ENSP00000321445 MSC 206 Musculin; Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation; Basic helix-loop-helix proteins 9606.ENSP00000321447 OR4S1 309 Olfactory receptor 4S1; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000321449 RRP7A 280 Ribosomal RNA processing 7 homolog A; UTPc subcomplex 9606.ENSP00000321455 MICU3 530 Calcium uptake protein 3, mitochondrial; May play a role in mitochondrial calcium uptake; EF-hand domain containing 9606.ENSP00000321464 C10orf67 185 Uncharacterized protein C10orf67, mitochondrial; Chromosome 10 open reading frame 67 9606.ENSP00000321475 KLHL38 581 Kelch-like protein 38; Kelch like family member 38; BTB domain containing 9606.ENSP00000321498 SLC37A3 494 Sugar phosphate exchanger 3; Solute carrier family 37 member 3 9606.ENSP00000321506 OR4X1 305 Olfactory receptor 4X1; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000321519 C19orf18 215 Uncharacterized protein C19orf18; Chromosome 19 open reading frame 18 9606.ENSP00000321537 LLGL1 1064 Lethal(2) giant larvae protein homolog 1; Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane 9606.ENSP00000321544 KBTBD11 623 Kelch repeat and BTB domain containing 11 9606.ENSP00000321546 LOH12CR1 196 BLOC-1-related complex subunit 5; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Thereby, it may indirectly play a role in cell spreading and motility 9606.ENSP00000321573 DCBLD2 775 Discoidin, CUB and LCCL domain containing 2 9606.ENSP00000321584 IMPDH2 514 Inosine-5'-monophosphate dehydrogenase 2; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors 9606.ENSP00000321606 CRMP1 686 Dihydropyrimidinase-related protein 1; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. May participate in cytokinesis; Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family 9606.ENSP00000321617 ANKZF1 726 Ankyrin repeat and zinc finger domain-containing protein 1; Plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress. Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway (By similarity); Belongs to the ANKZF1/VMS1 family 9606.ENSP00000321627 ANKFN1 763 Ankyrin repeat and fibronectin type III domain containing 1 9606.ENSP00000321656 CDC25C 473 M-phase inducer phosphatase 3; Functions as a dosage-dependent inducer in mitotic control. Tyrosine protein phosphatase required for progression of the cell cycle. When phosphorylated, highly effective in activating G2 cells into prophase. Directly dephosphorylates CDK1 and activates its kinase activity 9606.ENSP00000321679 ANKRD23 305 Ankyrin repeat domain-containing protein 23; May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression; Ankyrin repeat domain containing 9606.ENSP00000321684 MEOX1 254 Homeobox protein MOX-1; Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints. Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independen [...] 9606.ENSP00000321691 PDDC1 220 Glutamine amidotransferase-like class 1 domain-containing protein 1; Parkinson disease 7 domain containing 1; Belongs to the peptidase C56 family 9606.ENSP00000321703 TACC1 805 Transforming acidic coiled-coil-containing protein 1; Likely involved in the processes that promote cell division prior to the formation of differentiated tissues 9606.ENSP00000321706 GEMIN4 1058 Gem-associated protein 4; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] 9606.ENSP00000321711 DIS3L 1054 DIS3-like exonuclease 1; Putative cytoplasm-specific catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA 9606.ENSP00000321729 OR51V1 321 Olfactory receptor 51V1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000321735 SLC16A8 504 Monocarboxylate transporter 3; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Solute carriers 9606.ENSP00000321744 HIST1H2BC 126 Histone cluster 1 H2B family member c; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000321797 FGF8 244 Fibroblast growth factor 8; Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Plays a role in neurite outgrowth in hippocampal cells; Belongs to the heparin-binding growth factors family 9606.ENSP00000321804 PAQR4 273 Progestin and adipoQ receptor family member 4 9606.ENSP00000321805 RIT2 217 GTP-binding protein Rit2; Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator; RAS type GTPase family 9606.ENSP00000321810 TRIT1 467 tRNA dimethylallyltransferase; Catalyzes the transfer of a dimethylallyl group onto the adenine at position 37 of both cytosolic and mitochondrial tRNAs, leading to the formation of N6-(dimethylallyl)adenosine (i(6)A); Belongs to the IPP transferase family 9606.ENSP00000321812 ZNF776 518 Zinc finger protein 776; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000321826 STXBP5 1151 Syntaxin-binding protein 5; Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity); Belongs to the WD repeat L(2)GL family 9606.ENSP00000321835 ETV4 484 ETS translocation variant 4; Transcriptional activator that binds to the enhancer of the adenovirus E1A gene; the core-binding sequence is 5'[AC]GGA[AT]GT-3'; ETS transcription factor family 9606.ENSP00000321848 ZNF671 534 Zinc finger protein 671; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000321853 SERPINF2 491 Alpha-2-antiplasmin; Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin; Serpin peptidase inhibitors 9606.ENSP00000321856 CRELD1 422 Cysteine rich with EGF like domains 1 9606.ENSP00000321874 B3GNT3 372 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides. Also acts as a core1-1,3-N- acetylglucosaminyltransferase (Core1-beta3GlcNAcT) to form the 6- sulfo sialyl Lewis x on extended core1 O-glycans; Belongs to the glycosyltransferase 31 family 9606.ENSP00000321927 FBXL13 735 F-box/LRR-repeat protein 13; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; Cilia and flagella associated 9606.ENSP00000321951 FAIM2 316 Protein lifeguard 2; Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development; Belongs to the BI1 family. LFG subfamily 9606.ENSP00000321962 FIBIN 211 Fin bud initiation factor homolog; Belongs to the FIBIN family 9606.ENSP00000321963 ZSCAN4 433 Zinc finger and SCAN domain-containing protein 4; Embryonic stem (ES) cell-specific transcription factor required to regulate ES cell pluripotency. Binds telomeres and plays a key role in genomic stability in ES cells by regulating telomere elongation. Acts as an activator of spontaneous telomere sister chromatid exchange (T-SCE) and telomere elongation in undifferentiated ES cells (By similarity); SCAN domain containing 9606.ENSP00000321971 RHOT2 618 Mitochondrial Rho GTPase 2; Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (By similarity) 9606.ENSP00000321976 NKPD1 832 NTPase KAP family P-loop domain containing 1 9606.ENSP00000321987 TSPEAR 669 Thrombospondin-type laminin G domain and EAR repeat-containing protein; May play a role in development or function of the auditory system; Deafness associated genes 9606.ENSP00000321997 LARP1B 914 La-related protein 1B; La ribonucleoprotein domain family member 1B; Belongs to the LARP family 9606.ENSP00000321999 PTH1R 593 Parathyroid hormone/parathyroid hormone-related peptide receptor; Receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system 9606.ENSP00000322020 SLC25A22 323 Mitochondrial glutamate carrier 1; Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+); Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000322061 C7 843 Complement component C7; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor; Belongs to the complement C6/C7/C8/C9 family 9606.ENSP00000322088 OR52E2 325 Olfactory receptor 52E2; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000322142 ING5 240 Inhibitor of growth protein 5; Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Through chromatin acetylation it may regulate DNA replication and may function as a transcriptional coactivator; Belongs to the ING family 9606.ENSP00000322156 OR51L1 315 Olfactory receptor 51L1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000322159 ATG4C 458 Cysteine protease ATG4C; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Is not essential for autophagy development under normal conditions but is required for a proper autophagic response under stressful conditions such as prolonged starvation (By similarity). Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3 and GABARAPL2, to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy [...] 9606.ENSP00000322170 PFN4 129 Profilin-4; Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA). Does not bind to actin, contrary to other family members; Belongs to the profilin family 9606.ENSP00000322180 DSCC1 393 Sister chromatid cohesion protein DCC1; Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3 9606.ENSP00000322181 DPM2 84 Dolichol phosphate-mannose biosynthesis regulatory protein; Regulates the biosynthesis of dolichol phosphate- mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity 9606.ENSP00000322191 DEFB104B 72 Beta-defensin 104; Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103; Belongs to the beta-defensin family 9606.ENSP00000322192 PGA3 388 Pepsin A-3; Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent 9606.ENSP00000322218 PITPNM2 1349 Membrane-associated phosphatidylinositol transfer protein 2; Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions 9606.ENSP00000322229 FADS1 501 Fatty acid desaturase 1; Isoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By similarity). Isoform 1 is a component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3), [...] 9606.ENSP00000322238 C14orf119 140 Uncharacterized protein C14orf119; Chromosome 14 open reading frame 119 9606.ENSP00000322242 RNF10 811 RING finger protein 10; Transcriptional factor involved in the regulation of MAG (Myelin-associated glycoprotein) expression. Acts as a regulator of Schwann cell differentiation and myelination; Ring finger proteins 9606.ENSP00000322249 ORAI3 295 Protein orai-3; Key regulator or component of store-operated Ca(2+) channel and transcription factor NFAT nuclear import; Belongs to the Orai family 9606.ENSP00000322251 TNNI3K 835 Serine/threonine-protein kinase TNNI3K; May play a role in cardiac physiology; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily 9606.ENSP00000322265 ZNF620 422 Zinc finger protein 620; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000322270 LPHN2 1403 Adhesion G protein-coupled receptor L2; Calcium-independent receptor of low affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor probably implicated in the regulation of exocytosis; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000322273 OLFML3 406 Olfactomedin-like protein 3; Secreted scaffold protein that plays an essential role in dorsoventral patterning during early development. Stabilizes axial formation by restricting chordin (CHRD) activity on the dorsal side. Acts by facilitating the association between the tolloid proteases and their substrate chordin (CHRD), leading to enhance chordin (CHRD) degradation (By similarity). May have matrix-related function involved in placental and embryonic development, or play a similar role in other physiological processes; Belongs to the OLFML3 family 9606.ENSP00000322276 VNN2 520 Vascular non-inflammatory molecule 2; Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine. Involved in the thymus homing of bone marrow cells. May regulate beta-2 integrin-mediated cell adhesion, migration and motility of neutrophil; Vanins 9606.ENSP00000322300 TMTC2 836 Transmembrane and tetratricopeptide repeat containing 2 9606.ENSP00000322304 PORCN 461 Protein-serine O-palmitoleoyltransferase porcupine; Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors; Membrane bound O-acyltransferases 9606.ENSP00000322316 COQ7 217 5-demethoxyubiquinone hydroxylase, mitochondrial; Catalyzes the hydroxylation of 2-polyprenyl-3-methyl-6- methoxy-1,4-benzoquinol (DMQH2) during ubiquinone biosynthesis. Has also a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner; Belongs to the COQ7 family 9606.ENSP00000322323 FAM20C 584 Extracellular serine/threonine protein kinase FAM20C; Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth. Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome. Mainly phosphorylates proteins within the Ser- x-Glu/pSer motif, but also displays a broader substrate specificity. Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1. [...] 9606.ENSP00000322339 VN1R1 353 Vomeronasal type-1 receptor 1; Putative pheromone receptor; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000322343 CDK20 346 Cyclin-dependent kinase 20; Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling (By similarity). Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160'; Cyclin dependent kinases 9606.ENSP00000322373 PLEKHF2 249 Pleckstrin homology domain-containing family F member 2; May play a role in early endosome fusion upstream of RAB5, hence regulating receptor trafficking and fluid-phase transport. Enhances cellular sensitivity to TNF-induced apoptosis; Pleckstrin homology domain containing 9606.ENSP00000322390 FGF13 245 Fibroblast growth factor 13; Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus; Belongs to the heparin-binding growth factors family 9606.ENSP00000322396 RRS1 365 Ribosome biogenesis regulatory protein homolog; Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus; Belongs to the RRS1 family 9606.ENSP00000322419 RPLP2 115 60S acidic ribosomal protein P2; Plays an important role in the elongation step of protein synthesis; L ribosomal proteins 9606.ENSP00000322421 HBA1 142 Hemoglobin subunit alpha; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family 9606.ENSP00000322435 OR6B3 331 Olfactory receptor 6B3; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000322439 TUFM 455 Elongation factor Tu, mitochondrial; This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily 9606.ENSP00000322450 NDUFV1 464 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity) 9606.ENSP00000322457 SIAH2 324 E3 ubiquitin-protein ligase SIAH2; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription [...] 9606.ENSP00000322460 SCN4B 228 Sodium channel subunit beta-4; Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the suceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom; Sodium voltage-gated channel beta subunits 9606.ENSP00000322469 C3orf38 329 Uncharacterized protein C3orf38; May be involved in apoptosis regulation 9606.ENSP00000322524 DCTPP1 170 dCTP pyrophosphatase 1; Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism 9606.ENSP00000322532 PELI3 469 E3 ubiquitin-protein ligase pellino homolog 3; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation; Belongs to the pellino family 9606.ENSP00000322545 ZNF543 600 Zinc finger protein 543; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000322546 OR51G1 321 Olfactory receptor 51G1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000322568 SOX11 441 Transcription factor SOX-11; Transcriptional factor involved in the embryonic neurogenesis. May also have a role in tissue modeling during development; SRY-boxes 9606.ENSP00000322570 POLE 2286 DNA polymerase epsilon catalytic subunit A; Participates in DNA repair and in chromosomal DNA replication; Belongs to the DNA polymerase type-B family 9606.ENSP00000322579 PHF23 403 PHD finger protein 23; Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria; PHD finger proteins 9606.ENSP00000322582 C4orf17 359 Uncharacterized protein C4orf17; Chromosome 4 open reading frame 17 9606.ENSP00000322593 OR51G2 314 Olfactory receptor 51G2; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000322594 RAB39A 217 Ras-related protein Rab-39A; Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in vesicular trafficking. Plays a role in the fusion of phagosomes with lysosomes. Negatively regulates LPS-induced autophagosome formation in macrophages possibly by implicating PI3K. May be involved in multiple neurite formation (By similarity); Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000322609 ERICH3 1530 Glutamate-rich protein 3; Glutamate rich 3 9606.ENSP00000322617 HTR3C 447 5-hydroxytryptamine receptor 3C; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel; 5-hydroxytryptamine receptors, ionotropic 9606.ENSP00000322628 ARL4D 201 ADP-ribosylation factor-like protein 4D; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form 9606.ENSP00000322640 SPATA31E1 1445 Spermatogenesis-associated protein 31E1; May play a role in spermatogenesis 9606.ENSP00000322649 SLC25A41 370 Solute carrier family 25 member 41; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000322706 HMGCS1 520 Hydroxymethylglutaryl-CoA synthase, cytoplasmic; This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase 9606.ENSP00000322716 GLYR1 553 Putative oxidoreductase GLYR1; Putative oxidoreductase that is recruited on chromatin and promotes KDM1B demethylase activity. Recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3). Regulates p38 MAP kinase activity by mediating stress activation of p38alpha/MAPK14 and specifically regulating MAPK14 signaling. Indirectly promotes phosphorylation of MAPK14 and activation of ATF2. The phosphorylation of MAPK14 requires upstream activity of MAP2K4 and MAP2K6; Belongs to the 3-hydroxyisobutyrate dehydrogenase family. NP60 subfamily 9606.ENSP00000322724 OR51H1P 302 Olfactory receptor 51H1; Odorant receptor 9606.ENSP00000322730 ITM2C 267 Integral membrane protein 2C; Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF- induced cell death and neuronal differentiation (By similarity) 9606.ENSP00000322754 OR51S1 323 Olfactory receptor 51S1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000322775 RHBDF2 856 Inactive rhomboid protein 2; Rhomboid protease-like protein which has no protease activity but regulates the secretion of several ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration (By similarity); Belongs to the peptidase S54 family 9606.ENSP00000322784 OR5AK2 309 Olfactory receptor 5AK2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000322788 MMP1 469 Interstitial collagenase; Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity; Endogenous ligands 9606.ENSP00000322801 OR52N2 321 Olfactory receptor 52N2; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000322802 TSPYL5 417 Testis-specific Y-encoded-like protein 5; Involved in modulation of cell growth and cellular response to gamma radiation probably via regulation of the Akt signaling pathway. Involved in regulation of p53/TP53. Suppresses p53/TP53 protein levels and promotes its ubiquitination; the function is dependent on USP7 and independent on MDM2. Proposed to displace p53/TP53 from interaction with USP7 9606.ENSP00000322804 MTSS1 759 Metastasis suppressor protein 1; May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton; I-BAR domain containing 9606.ENSP00000322823 OR52N1 320 Olfactory receptor 52N1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000322832 ROGDI 287 Protein rogdi homolog; May act as a positive regulator of cell proliferation; Belongs to the rogdi family 9606.ENSP00000322837 TMEM40 233 Transmembrane protein 40 9606.ENSP00000322845 ZMYM3 1370 Zinc finger MYM-type protein 3; Plays a role in the regulation of cell morphology and cytoskeletal organization; Zinc fingers MYM-type 9606.ENSP00000322866 OR52N5 324 Olfactory receptor 52N5; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000322885 DTX2 622 Probable E3 ubiquitin-protein ligase DTX2; Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Functions as a ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity; Belongs to the Deltex family 9606.ENSP00000322898 EBF1 591 Transcription factor COE1; Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' 9606.ENSP00000322899 ZNF843 348 Zinc finger protein 843; Zinc fingers C2H2-type 9606.ENSP00000322915 ZMYM4 1548 Zinc finger MYM-type protein 4; Plays a role in the regulation of cell morphology and cytoskeletal organization; Zinc fingers MYM-type 9606.ENSP00000322924 HTR1F 366 5-hydroxytryptamine receptor 1F; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various alkaloids and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity 9606.ENSP00000322937 LRSAM1 723 E3 ubiquitin-protein ligase LRSAM1; E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos. Bacterial recognition protein that defends the cytoplasm from invasive pathogens. Localizes to several intracellular bacterial pathogens and generates the bacteria- associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy); Ring finger proteins 9606.ENSP00000322939 OR56B1 324 Olfactory receptor 56B1; Odorant receptor; Olfactory receptors, family 56 9606.ENSP00000322956 MFAP3 362 Microfibril-associated glycoprotein 3; Component of the elastin-associated microfibrils; I-set domain containing 9606.ENSP00000322991 BCAT2 392 Branched-chain-amino-acid aminotransferase, mitochondrial; Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids; Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000323036 ACPP 418 Prostatic acid phosphatase; A non-specific tyrosine phosphatase that dephosphorylates a diverse number of substrates under acidic conditions (pH 4-6) including alkyl, aryl, and acyl orthophosphate monoesters and phosphorylated proteins. Has lipid phosphatase activity and inactivates lysophosphatidic acid in seminal plasma; Belongs to the histidine acid phosphatase family 9606.ENSP00000323046 EXOSC3 275 Exosome complex component RRP40; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] 9606.ENSP00000323047 MTG1 334 Mitochondrial ribosome-associated GTPase 1; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity; Belongs to the TRAFAC class YlqF/YawG GTPase family. MTG1 subfamily 9606.ENSP00000323065 GADD45GIP1 222 Growth arrest and DNA damage-inducible proteins-interacting protein 1; Acts as a negative regulator of G1 to S cell cycle phase progression by inhibiting cyclin-dependent kinases. Inhibitory effects are additive with GADD45 proteins but occurs also in the absence of GADD45 proteins. Acts as a repressor of the orphan nuclear receptor NR4A1 by inhibiting AB domain-mediated transcriptional activity. May be involved in the hormone-mediated regulation of NR4A1 transcriptional activity. May play a role in mitochondrial protein synthesis 9606.ENSP00000323068 TMEM168 697 Transmembrane protein 168; Belongs to the TMEM168 family 9606.ENSP00000323071 ACOT4 421 Acyl-coenzyme A thioesterase 4; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH (By similarity). Succinyl-CoA thioesterase that also hydrolyzes long chain saturated and unsaturated monocarboxylic acyl-CoAs; Belongs to the C/M/P thioester hydrolase family 9606.ENSP00000323074 RAI1 1906 Retinoic acid-induced protein 1; Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation 9606.ENSP00000323076 NDUFAF3 184 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3; Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) 9606.ENSP00000323096 AMIGO3 504 Amphoterin-induced protein 3; May mediate heterophilic cell-cell interaction. May contribute to signal transduction through its intracellular domain (By similarity); Immunoglobulin like domain containing 9606.ENSP00000323099 ATRIP 791 ATR-interacting protein; Major cellular 3'-to-5' DNA exonuclease which digests single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) with mismatched 3' termini. Prevents cell-intrinsic initiation of autoimmunity. Acts by metabolizing DNA fragments from endogenous retroelements, including L1, LTR and SINE elements. Unless degraded, these DNA fragments accumulate in the cytosol and activate the IFN-stimulatory DNA (ISD) response and innate immune signaling. Prevents chronic ATM-dependent checkpoint activation, by processing ssDNA polynucleotide species arising from the processing o [...] 9606.ENSP00000323148 ZKSCAN1 563 Zinc finger protein with KRAB and SCAN domains 1; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000323155 DAND5 189 DAN domain family member 5; Seems to play a role in the correct specification of the left-right axis. May antagonize NODAL and BMP4 signaling. Cystine knot-containing proteins play important roles during development, organogenesis, tissue growth and differentiation (By similarity); DAN family 9606.ENSP00000323183 ZBTB2 514 Zinc finger and BTB domain-containing protein 2; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000323184 MYCBPAP 984 MYCBP-associated protein; May play a role in spermatogenesis. May be involved in synaptic processes (By similarity) 9606.ENSP00000323191 SAGE1 904 Sarcoma antigen 1 9606.ENSP00000323217 GOLGA8R 631 Golgin A8 family member R 9606.ENSP00000323224 OR52N4 321 Olfactory receptor 52N4; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000323241 C10orf91 145 Uncharacterized protein C10orf91; Chromosome 10 open reading frame 91 9606.ENSP00000323246 E2F7 911 Transcription factor E2F7; Atypical E2F transcription factor that participates in various processes such as angiogenesis, polyploidization of specialized cells and DNA damage response. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'- TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1. Acts as a regulator of S-phase by recognizing and binding the E2-related site 5'-TTCCCGCC-3' and mediating repression of G1/S-regulated genes. Plays a key role in p [...] 9606.ENSP00000323264 MARVELD2 558 MARVEL domain-containing protein 2; Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing; Deafness associated genes 9606.ENSP00000323275 DYX1C1 420 Dynein assembly factor 4, axonemal; Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity 9606.ENSP00000323280 CD6 668 T-cell differentiation antigen CD6; Cell adhesion molecule that mediates cell-cell contacts and regulates T-cell responses via its interaction with ALCAM/CD166. Contributes to signaling cascades triggered by activation of the TCR/CD3 complex. Functions as costimulatory molecule; promotes T-cell activation and proliferation. Contributes to the formation and maturation of the immunological synapse. Functions as calcium-dependent pattern receptor that binds and aggregates both Gram-positive and Gram-negative bacteria. Binds both lipopolysaccharide (LPS) from Gram-negative bacteria and lip [...] 9606.ENSP00000323288 RPUSD2 545 RNA pseudouridylate synthase domain containing 2 9606.ENSP00000323300 SPAG5 1193 Sperm-associated antigen 5; Essential component of the mitotic spindle required for normal chromosome segregation and progression into anaphase. Required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. In complex with SKAP, promotes stable microtubule-kinetochore attachments. May contribute to the regulation of separase activity. May regulate AURKA localization to mitotic spindle, but not to centrosomes and CCNB1 localization to both mitotic spindle and centrosomes. Involved in centriole duplication. Required for CD [...] 9606.ENSP00000323302 POC1B 478 POC1 centriolar protein homolog B; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation. Required for retinal integrity; Belongs to the WD repeat POC1 family 9606.ENSP00000323304 LSMEM1 131 Leucine rich single-pass membrane protein 1 9606.ENSP00000323313 PDIA5 519 Protein disulfide-isomerase A5; Protein disulfide isomerase family A member 5 9606.ENSP00000323328 SIGLEC7 467 Sialic acid-binding Ig-like lectin 7; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- and alpha-2,6-linked sialic acid. Also binds disialogangliosides (disialogalactosyl globoside, disialyl lactotetraosylceramide and disialyl GalNAc lactotetraoslylceramide). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their [...] 9606.ENSP00000323348 ZNF645 425 E3 ubiquitin-protein ligase ZNF645; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. May operate on tyrosine-phosphorylated SRC substrates 9606.ENSP00000323354 OR5M8 311 Olfactory receptor 5M8; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000323355 FAM187B 369 Protein FAM187B; Family with sequence similarity 187 member B 9606.ENSP00000323421 SMC1A 1233 Structural maintenance of chromosomes protein 1A; Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interacti [...] 9606.ENSP00000323423 OR2AP1 309 Olfactory receptor 2AP1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000323424 ISG20L2 353 Interferon-stimulated 20 kDa exonuclease-like 2; 3'-> 5'-exoribonuclease involved in ribosome biogenesis in the processing of the 12S pre-rRNA. Displays a strong specificity for a 3'-end containing a free hydroxyl group; Exonucleases 9606.ENSP00000323435 SNX22 193 Sorting nexin-22; May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)); Belongs to the sorting nexin family 9606.ENSP00000323455 TPRX1 411 Tetra-peptide repeat homeobox protein 1; PRD class homeoboxes and pseudogenes 9606.ENSP00000323511 PNKP 521 Bifunctional polynucleotide phosphatase/kinase; Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone; HAD Asp-based non-protein phosphatases 9606.ENSP00000323516 UTS2R 389 Urotensin-2 receptor; High affinity receptor for urotensin-2 and urotensin-2B. The activity of this receptor is mediated by a G-protein that activate a phosphatidylinositol-calcium second messenger system 9606.ENSP00000323527 MKLN1 735 Muskelin; Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1; CTLH complex 9606.ENSP00000323549 SLC6A18 628 Sodium-dependent neutral amino acid transporter B(0)AT3; Functions as a sodium and chloride-dependent neutral amino acid transporter; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A18 subfamily 9606.ENSP00000323555 OR8K3 312 Olfactory receptor 8K3; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000323568 SLC2A2 524 Solute carrier family 2, facilitated glucose transporter member 2; Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily 9606.ENSP00000323580 IFT88 833 Intraflagellar transport protein 88 homolog; Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment; Intraflagellar transport proteins 9606.ENSP00000323584 TSHZ1 1032 Teashirt homolog 1; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential); Belongs to the teashirt C2H2-type zinc-finger protein family 9606.ENSP00000323587 ITLN1 313 Intelectin-1; Lectin that specifically recognizes microbial carbohydrate chains in a calcium-dependent manner. Binds to microbial glycans that contain a terminal acyclic 1,2-diol moiety, including beta- linked D-galactofuranose (beta-Galf), D-phosphoglycerol-modified glycans, D-glycero-D-talo-oct-2-ulosonic acid (KO) and 3-deoxy-D- manno-oct-2-ulosonic acid (KDO). Binds to glycans from Gram-positive and Gram-negative bacteria, including K.pneumoniae, S.pneumoniae, Y.pestis, P.mirabilis and P.vulgaris. Does not bind human glycans. Probably plays a role in the defense system against micr [...] 9606.ENSP00000323588 SOX2 317 Transcription factor SOX-2; Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206 (By similarity). Critical for early embryogenesis and for embryonic stem cell pluripotency. May function as a switch in neuronal development. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal (By similarity). Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By si [...] 9606.ENSP00000323595 OR8H1 311 Olfactory receptor 8H1; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000323606 OR6C2 312 Olfactory receptor 6C2; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000323612 OR5T1 326 Olfactory receptor 5T1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000323635 FAM210A 272 Protein FAM210A; Family with sequence similarity 210 member A; Belongs to the FAM210 family 9606.ENSP00000323645 TTC39C 583 Tetratricopeptide repeat domain containing 9606.ENSP00000323663 DBF4B 615 Protein DBF4 homolog B; Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S and M phases. The complex CDC7-DBF4B selectively phosphorylates MCM2 subunit at 'Ser-40' and then is involved in regulating the initiation of DNA replication during cell cycle; Zinc fingers DBF-type 9606.ENSP00000323670 ZBTB7A 584 Zinc finger and BTB domain-containing protein 7A; Plays a key role in the instruction of early lymphoid progenitors to develop into B lineage by repressing T-cell instructive Notch signals (By similarity). Specifically represses the transcription of the CDKN2A gene. Efficiently abrogates E2F1- dependent CDKN2A transactivation/de-repression. Binds to the consensus sequence 5'-[GA][CA]GACCCCCCCCC-3' (By similarity); BTB domain containing 9606.ENSP00000323678 ZADH2 377 Prostaglandin reductase 3; Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto- PGE2-alpha with highest efficienty towards 15-keto-PGE2-alpha. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation; Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily 9606.ENSP00000323686 C15orf54 183 Putative uncharacterized protein C15orf54; Chromosome 15 open reading frame 54 9606.ENSP00000323687 UBE2O 1292 (E3-independent) E2 ubiquitin-conjugating enzyme; E2/E3 hybrid ubiquitin-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins. Negatively regulates TRAF6-mediated NF-kappa-B activation independently of its E2 activity. Acts as a positive regulator of BMP7 signaling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis. Mediates monoubiquitination at different sites of the nuclear localization signal (NLS) of BAP1, leading to cytoplasmic retention of BAP1. Also able to monoubiquitinate the NLS of other chrom [...] 9606.ENSP00000323688 OR5T2 359 Olfactory receptor 5T2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000323696 CRTAP 401 Cartilage-associated protein; Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues; Belongs to the leprecan family 9606.ENSP00000323714 EIF4E1B 242 Eukaryotic translation initiation factor 4E type 1B; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure 9606.ENSP00000323720 MED14 1454 Mediator of RNA polymerase II transcription subunit 14; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000323740 UCP3 312 Mitochondrial uncoupling protein 3; UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation. As a result, energy is dissipated in the form of heat. May play a role in the modulation of tissue respiratory control. Participates in thermogenesis and energy balance; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000323782 CCDC43 224 Coiled-coil domain containing 43; Belongs to the CCDC43 family 9606.ENSP00000323795 TEX35 233 Testis-expressed protein 35; Testis expressed 35 9606.ENSP00000323805 PALM2 411 Paralemmin-2; Paralemmin 2 9606.ENSP00000323811 HACL1 578 2-hydroxyacyl-CoA lyase 1; Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde; Belongs to the TPP enzyme family 9606.ENSP00000323816 AHRR 719 Aryl hydrocarbon receptor repressor; Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site; Basic helix-loop-helix proteins 9606.ENSP00000323821 GVQW3 254 annotation not available 9606.ENSP00000323847 ARL14 192 ADP-ribosylation factor-like protein 14; GTPase that recruits MYO1E to MHC class II-containing vesicles via the effector protein ARL14EP and hence controls the movement of these vesicles along the actin cytoskeleton in dendritic cells; ARF GTPase family 9606.ENSP00000323853 OR8K5 307 Olfactory receptor 8K5; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000323856 PLEC 4684 Plectin; Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity; Plakins 9606.ENSP00000323858 DDX54 882 ATP-dependent RNA helicase DDX54; Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors; DEAD-box helicases 9606.ENSP00000323867 PRKAG1 340 5'-AMP-activated protein kinase subunit gamma-1; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a [...] 9606.ENSP00000323872 P2RY11 374 Purinergic receptor P2Y11 9606.ENSP00000323879 ZNRF2 242 E3 ubiquitin-protein ligase ZNRF2; May play a role in the establishment and maintenance of neuronal transmission and plasticity via its ubiquitin ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates; Ring finger proteins 9606.ENSP00000323880 FOXJ1 421 Forkhead box protein J1; Transcription factor specifically required for the formation of motile cilia. Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'- KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T); Belongs to the FOXJ1 family 9606.ENSP00000323889 TRIM25 630 E3 ubiquitin/ISG15 ligase TRIM25; Functions as a ubiquitin E3 ligase and as an ISG15 E3 ligase. Involved in innate immune defense against viruses by mediating ubiquitination of DDX58. Mediates 'Lys-63'-linked polyubiquitination of the DDX58 N-terminal CARD-like region which is crucial for triggering the cytosolic signal transduction that leads to the production of interferons in response to viral infection. Promotes ISGylation of 14-3-3 sigma (SFN), an adapter protein implicated in the regulation of a large spectrum signaling pathway. Mediates estrogen action in various target organs. [...] 9606.ENSP00000323895 OR10D3 312 Putative olfactory receptor 10D3; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000323901 FZD2 565 Frizzled-2; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to [...] 9606.ENSP00000323913 TRIM55 548 Tripartite motif-containing protein 55; May regulate gene expression and protein turnover in muscle cells; Ring finger proteins 9606.ENSP00000323926 TRPM8 1104 Transient receptor potential cation channel subfamily M member 8; Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of it [...] 9606.ENSP00000323927 PLXDC1 500 Plexin domain-containing protein 1; Plays a critical role in endothelial cell capillary morphogenesis 9606.ENSP00000323928 OR8H3 312 Olfactory receptor 8H3; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000323929 A2M 1474 Alpha-2-macroglobulin; Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region, a thioester bond is hydrolyzed and mediates the c [...] 9606.ENSP00000323945 ZNF771 317 Zinc finger protein 771; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000323952 OR51F2 342 Olfactory receptor 51F2; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000323967 SMARCE1 411 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors- specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). D [...] 9606.ENSP00000323978 CRIPAK 446 Cysteine-rich PAK1 inhibitor; Negative regulator of PAK1. It has been suggested that the lost of CRIPAK in breast tumors might contribute to hormonal independence 9606.ENSP00000323982 OR8H2 312 Olfactory receptor 8H2; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000324020 KIF15 1388 Kinesin-like protein KIF15; Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KLP2 subfamily 9606.ENSP00000324064 ZNF354C 554 Zinc finger protein 354C; May function as a transcription repressor. Binds to 5'- CCACA-3' core sequence. Suppresses osteogenic effects of RUNX2. May be involved in osteoblastic differentiation (By similarity). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity); Zinc fingers C2H2-type 9606.ENSP00000324105 ENO3 434 Beta-enolase; Appears to have a function in striated muscle development and regeneration; Belongs to the enolase family 9606.ENSP00000324111 OR5AS1 324 Olfactory receptor 5AS1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000324122 PRPF31 499 U4/U6 small nuclear ribonucleoprotein Prp31; Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome; U4/U6 small nucleolar ribonucleoprotein 9606.ENSP00000324124 POLR2L 67 DNA-directed RNA polymerases I, II, and III subunit RPABC5; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of t [...] 9606.ENSP00000324127 PSD3 1047 PH and SEC7 domain-containing protein 3; Guanine nucleotide exchange factor for ARF6; Pleckstrin homology domain containing 9606.ENSP00000324173 HSPA5 654 78 kDa glucose-regulated protein; Plays a role in facilitating the assembly of multimeric protein complexes inside the endoplasmic reticulum. Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10, probably to facilitate the release of DNAJC10 from its substrate (By similarity); Belongs to the heat shock protein 70 family 9606.ENSP00000324175 MAMSTR 415 MEF2-activating motif and SAP domain-containing transcriptional regulator; Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity); Myocardin family 9606.ENSP00000324191 KCNRG 272 Potassium channel regulatory protein; Inhibits potassium fluxes in cells. May regulate Kv1 family channel proteins by retaining a fraction of channels in endomembranes 9606.ENSP00000324196 AATK 1374 Serine/threonine-protein kinase LMTK1; May be involved in neuronal differentiation; Protein phosphatase 1 regulatory subunits 9606.ENSP00000324203 WRAP53 548 Telomerase Cajal body protein 1; Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, it controls telomerase localization to Cajal body. Required for delivery of TERC to telomeres during S phase and for telomerase activity. Binds small Cajal body RNAs (scaRNAs). The mRNA encoding this protein plays a critical role in the regulation of p53 expression at the post- transcriptional level; it is involved both in maintaining b [...] 9606.ENSP00000324204 MTURN 131 Maturin; May be involved in early neuronal development 9606.ENSP00000324205 CHMP4A 265 Charged multivesicular body protein 4a; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] 9606.ENSP00000324248 PENK 267 Proenkephalin-A; Met- and Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress. PENK(114-133) and PENK(237-258) increase glutamate release in the striatum. PENK(114-133) decreases GABA concentration in the striatum; Belongs to the opioid neuropeptide precursor family 9606.ENSP00000324251 OR10K2 312 Olfactory receptor 10K2; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000324270 OXTR 389 Oxytocin receptor; Receptor for oxytocin. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol- calcium second messenger system; Arginine vasopressin and oxytocin receptors 9606.ENSP00000324277 APOLD1 279 Apolipoprotein L domain-containing protein 1; May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood- brain permeability 9606.ENSP00000324287 ACAP2 778 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2; GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6); Ankyrin repeat domain containing 9606.ENSP00000324292 FBF1 1133 Fas-binding factor 1; Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis 9606.ENSP00000324302 STXBP6 210 Syntaxin-binding protein 6; Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis 9606.ENSP00000324318 TRAPPC12 735 Trafficking protein particle complex subunit 12; Plays an important role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores. May be involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage; Tetratricopeptide repeat domain containing 9606.ENSP00000324323 TCTEX1D2 142 Tctex1 domain-containing protein 2; Required for proper retrograde ciliary transport; Belongs to the dynein light chain Tctex-type family 9606.ENSP00000324343 UPB1 384 Beta-ureidopropionase; Converts N-carbamoyl-beta-aminoisobutyrate and N- carbamoyl-beta-alanine (3-ureidopropanoate) to, respectively, beta-aminoisobutyrate and beta-alanine, ammonia and carbon dioxide 9606.ENSP00000324369 OR2T35 323 Olfactory receptor 2T35; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000324403 PHF21B 531 PHD finger protein 21B 9606.ENSP00000324404 TCHP 498 Trichoplein keratin filament-binding protein; Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells. Is a negative regulator of ciliogenesis; Belongs to the TCHP family 9606.ENSP00000324419 SYT9 491 Synaptotagmin-9; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis; Synaptotagmins 9606.ENSP00000324422 ZYX 572 Zyxin; Adhesion plaque protein. Binds alpha-actinin and the CRP protein. Important for targeting TES and ENA/VASP family members to focal adhesions and for the formation of actin-rich structures. May be a component of a signal transduction pathway that mediates adhesion-stimulated changes in gene expression (By similarity) 9606.ENSP00000324463 YLPM1 2146 YLP motif-containing protein 1; Plays a role in the reduction of telomerase activity during differentiation of embryonic stem cells by binding to the core promoter of TERT and controlling its down-regulation; Protein phosphatase 1 regulatory subunits 9606.ENSP00000324464 CSNK1D 415 Casein kinase I isoform delta; Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A, SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3, ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Central component of the circadian clock. In balance with PP1, dete [...] 9606.ENSP00000324510 BAIAP3 1187 BAI1 associated protein 3; C2 domain containing 9606.ENSP00000324511 SEPT1 414 Septin-1; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. Septin GTPase family 9606.ENSP00000324527 MYO1D 1006 Unconventional myosin-Id; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity); Myosins, class I 9606.ENSP00000324532 LAMA3 3333 Laminin subunit alpha-3; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000324534 OR14C36 312 Olfactory receptor 14C36; Odorant receptor; Olfactory receptors, family 14 9606.ENSP00000324557 OR2M7 312 Olfactory receptor 2M7; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000324560 ULK1 1050 Serine/threonine-protein kinase ULK1; Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3- kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, lead [...] 9606.ENSP00000324573 FLII 1269 Protein flightless-1 homolog; May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation; Gelsolin/villins 9606.ENSP00000324583 OR2T12 320 Olfactory receptor 2T12; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000324587 FAM193A 1265 Protein FAM193A; Family with sequence similarity 193 member A 9606.ENSP00000324605 ZNF660 331 Zinc finger protein 660; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000324628 NAPG 312 Gamma-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus; Belongs to the SNAP family 9606.ENSP00000324633 DEFB103B 67 Beta-defensin 103; Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed; Defensins, beta 9606.ENSP00000324648 CYP2B6 491 Cytochrome P450 2B6; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,4-cineole 2-exo-monooxygenase 9606.ENSP00000324651 TMEM108 575 Transmembrane protein 108; Transmembrane protein required for proper cognitive functions. Involved in the development of dentate gyrus (DG) neuron circuitry, is neccessary for AMPA receptors surface expression and proper excitatory postsynaptic currents of DG granule neurons. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Through the interaction with DST, mediates the docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport. In hippocampal neurons, required for BDNF- dependent dendr [...] 9606.ENSP00000324672 C16orf89 402 UPF0764 protein C16orf89; Chromosome 16 open reading frame 89 9606.ENSP00000324687 OR2T33 320 Olfactory receptor 2T33; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000324693 GRHL1 618 Grainyhead-like protein 1 homolog; Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3'. Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity). Isoform 1 may function as an activator and isoform 2 as a repressor in tissues where both forms are expressed 9606.ENSP00000324701 MAB21L2 359 Protein mab-21-like 2; Required for several aspects of embryonic development including normal development of the eye; Belongs to the mab-21 family 9606.ENSP00000324729 SAV1 383 Protein salvador homolog 1; Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleu [...] 9606.ENSP00000324741 C7orf43 580 Uncharacterized protein C7orf43; Chromosome 7 open reading frame 43 9606.ENSP00000324763 WFIKKN1 548 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1; Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity (By similarity); I-set domain containing 9606.ENSP00000324769 OR4C6 309 Olfactory receptor 4C6; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000324775 TMIE 156 Transmembrane inner ear expressed protein; Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain; Deafness associated genes 9606.ENSP00000324792 NFATC2IP 419 NFATC2-interacting protein; In T-helper 2 (Th2) cells, regulates the magnitude of NFAT-driven transcription of a specific subset of cytokine genes, including IL3, IL4, IL5 and IL13, but not IL2. Recruits PRMT1 to the IL4 promoter; this leads to enhancement of histone H4 'Arg-3'- methylation and facilitates subsequent histone acetylation at the IL4 locus, thus promotes robust cytokine expression (By similarity). Down-regulates formation of poly-SUMO chains by UBE2I/UBC9 (By similarity) 9606.ENSP00000324799 TMEM78 136 Transmembrane protein 78 9606.ENSP00000324804 PPP2R1A 589 Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform; The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT. Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis 9606.ENSP00000324806 GSK3B 433 Glycogen synthase kinase-3 beta; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glyc [...] 9606.ENSP00000324810 MVB12A 273 Multivesicular body subunit 12A; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in the ligand-mediated internalization and down- regulation of EGF receptor; Belongs to the MVB12 family 9606.ENSP00000324827 AKAP17A 695 A-kinase anchor protein 17A; Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre- mRNA splicing in a PKA-dependent manner; A-kinase anchoring proteins 9606.ENSP00000324831 OR4P4 312 Olfactory receptor 4P4; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000324842 AACS 672 Acetoacetyl-CoA synthetase; Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000324856 STK11 433 Serine/threonine-protein kinase STK11; Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non- AMPK family proteins such as STRADA, PTEN and possibly p53/T [...] 9606.ENSP00000324857 SEMA6D 1073 Semaphorin-6D; Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections; Belongs to the semaphorin family 9606.ENSP00000324870 SPINK6 80 Serine protease inhibitor Kazal-type 6; Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14. Doesn't inhibit KLK8; Serine peptidase inhibitors, Kazal type 9606.ENSP00000324890 CD28 220 T-cell-specific surface glycoprotein CD28; Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival. Enhances the production of IL4 and IL10 in T-cells in conjunction with TCR/CD3 ligation and CD40L costimulation. Isoform 3 enhances CD40L-mediated activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells 9606.ENSP00000324901 IQCK 287 IQ motif containing K 9606.ENSP00000324913 OR4C16 310 Olfactory receptor 4C16; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000324920 C14orf39 587 Protein SIX6OS1; Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation 9606.ENSP00000324944 MBOAT1 495 Lysophospholipid acyltransferase 1; Acyltransferase which mediates the conversion of lysophosphatidylserine (1-acyl-2-hydroxy-sn-glycero-3-phospho-L- serine or LPS) into phosphatidylserine (1,2-diacyl-sn-glycero-3- phospho-L-serine or PS) (LPSAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle; Membrane bound O-acyltransferases 9606.ENSP00000324958 OR4C15 370 Olfactory receptor 4C15; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000324960 CABP4 275 Calcium-binding protein 4; Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity); EF-hand domain containing 9606.ENSP00000325002 COPG1 874 Coatomer subunit gamma-1; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also i [...] 9606.ENSP00000325017 NCAPD2 1401 Condensin complex subunit 1; Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. May target the condensin complex to DNA via its C-terminal domain; Belongs to the CND1 (condensin subunit 1) family 9606.ENSP00000325018 ZNF569 686 Zinc finger protein 569; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000325065 OR4A15 344 Olfactory receptor 4A15; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000325074 PPP2R2A 457 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; Protein phosphatase 2 regulatory subunits 9606.ENSP00000325076 OR10G4 311 Olfactory receptor 10G4; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000325078 OR2AJ1 328 Olfactory receptor 2AJ1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000325091 LRCH2 765 Leucine rich repeats and calponin homology domain containing 2 9606.ENSP00000325120 PGR 933 Progesterone receptor; The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Depending on the isoform, progesterone receptor functions as transcriptional activator or repressor; Belongs to the nuclear hormone receptor family. NR3 subfamily 9606.ENSP00000325128 OR4A16 328 Olfactory receptor 4A16; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000325136 HADHB 474 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta 9606.ENSP00000325144 C15orf53 179 Uncharacterized protein C15orf53; Chromosome 15 open reading frame 53 9606.ENSP00000325146 COL12A1 3063 Collagen alpha-1(XII) chain; Type XII collagen interacts with type I collagen- containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family 9606.ENSP00000325203 OR6T1 323 Olfactory receptor 6T1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000325239 MYLPF 169 Myosin light chain, phosphorylatable, fast skeletal muscle; EF-hand domain containing 9606.ENSP00000325240 LASP1 261 LIM and SH3 domain protein 1; Plays an important role in the regulation of dynamic actin-based, cytoskeletal activities. Agonist-dependent changes in LASP1 phosphorylation may also serve to regulate actin-associated ion transport activities, not only in the parietal cell but also in certain other F-actin-rich secretory epithelial cell types (By similarity); LIM domain containing 9606.ENSP00000325266 TTC9C 171 Tetratricopeptide repeat domain containing; Belongs to the TTC9 family 9606.ENSP00000325285 MTMR4 1195 Myotubularin-related protein 4; Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3); Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily 9606.ENSP00000325290 GSG2 798 Serine/threonine-protein kinase haspin; Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle 9606.ENSP00000325296 PKD2L1 805 Polycystic kidney disease 2-like 1 protein; Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect; Belongs to the polycystin family 9606.ENSP00000325301 CDPF1 123 Cysteine rich DPF motif domain containing 1 9606.ENSP00000325312 METAP2 478 Methionine aminopeptidase 2; Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalytic activity of human METAP2 toward Met-Val peptides is consistently two orders of magnitude higher than that of METAP1, suggesting that it is responsible for processing proteins containing N- terminal Met-Val and Met-Thr sequences in vivo; Belongs to the peptidase M24A family. Methionine aminopeptidase eukaryotic typ [...] 9606.ENSP00000325313 MAP1S 1059 Microtubule-associated protein 1S; Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles (By similarity); Belongs to the MAP1 family 9606.ENSP00000325326 ZNF335 1342 Zinc finger protein 335; Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters. Enhances ligand- dependent transcriptional activation by nuclear hormone receptors. Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST. Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation; Zinc fingers C2H2-type 9606.ENSP00000325355 CASKIN2 1202 Caskin-2; Sterile alpha motif domain containing 9606.ENSP00000325369 AP3S1 193 AP-3 complex subunit sigma-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals; Belongs to the adaptor complexes small subunit family 9606.ENSP00000325376 HNRNPM 730 Heterogeneous nuclear ribonucleoprotein M; Pre-mRNA binding protein in vivo, binds avidly to poly(G) and poly(U) RNA homopolymers in vitro. Involved in splicing. Acts as a receptor for carcinoembryonic antigen in Kupffer cells, may initiate a series of signaling events leading to tyrosine phosphorylation of proteins and induction of IL-1 alpha, IL-6, IL-10 and tumor necrosis factor alpha cytokines 9606.ENSP00000325377 WDR33 1336 pre-mRNA 3' end processing protein WDR33; Essential for both cleavage and polyadenylation of pre- mRNA 3' ends; WD repeat domain containing 9606.ENSP00000325381 OR8D4 314 Olfactory receptor 8D4; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000325402 MYPOP 399 Myb-related transcription factor, partner of profilin; Transcriptional repressor; DNA-binding protein that specifically recognizes the core sequence 5'-YAAC[GT]G-3'. Dimerization with PFN1 reduces its DNA-binding capacity (By similarity); Myb/SANT domain containing 9606.ENSP00000325414 SERTAD3 196 SERTA domain-containing protein 3; Strong transcriptional coactivator 9606.ENSP00000325421 PARL 379 Presenilins-associated rhomboid-like protein, mitochondrial; Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptoptic signals (By similarity). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain; Rhomboid family 9606.ENSP00000325425 MAT2B 334 Methionine adenosyltransferase 2 subunit beta; Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L- methionine. Can bind NADP (in vitro); Short chain dehydrogenase/reductase superfamily 9606.ENSP00000325448 KARS 625 Lysine--tRNA ligase; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of the signaling molecule diadenosine tetraphosphate (Ap4A), and thereby mediates disruption of the complex between HINT1 and MITF and the concomitant activation of MITF transcriptional activity; Belongs to the class-I [...] 9606.ENSP00000325485 CERS5 392 Ceramide synthase 5; Dihydroceramide synthase. Catalyzes the acylation of sphingosine to form dihydroceramide, with high selectivity toward palmitoyl-CoA as acyl donor compared to stearoyl-CoA. Inhibited by fumonisin B1 (By similarity); CERS class homeoboxes 9606.ENSP00000325508 C11orf71 147 Uncharacterized protein C11orf71; Chromosome 11 open reading frame 71 9606.ENSP00000325525 KIR3DL2 455 Killer cell immunoglobulin-like receptor 3DL2; Receptor on natural killer (NK) cells for HLA-A alleles. Inhibits the activity of NK cells thus preventing cell lysis; CD molecules 9606.ENSP00000325526 WNT11 354 Protein Wnt-11; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters 9606.ENSP00000325527 FBN1 2871 Fibrillin-1; Fibrillin-1: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues. Fibrillin-1- containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus w [...] 9606.ENSP00000325546 PLAG1 500 Zinc finger protein PLAG1; Transcription factor whose activation results in up- regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepat [...] 9606.ENSP00000325548 CNDP2 475 Cytosolic non-specific dipeptidase; Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly. Acts as a functional tumor suppressor in gastric cancer via activation of the mitogen-activated protein kinase (MAPK) pathway. An elevated level of CNDP2 activates the p38 and JNK MAPK pathways to induce cell apoptosis, and a lower level of CNDP2 activates the ERK MAPK pathway to promote cell proliferation. Isoform 2 may play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells. Catalyzes the production of N- lactoyl-amino acids from lactat [...] 9606.ENSP00000325561 TMC8 726 Transmembrane channel-like protein 8; Probable ion channel; Transmembrane channel likes 9606.ENSP00000325562 MINOS1 78 MICOS complex subunit MIC10; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane 9606.ENSP00000325564 SYCN 134 Syncollin; Functions in exocytosis in pancreatic acinar cells regulating the fusion of zymogen granules with each other. May have a pore-forming activity on membranes and regulate exocytosis in other exocrine tissues (By similarity) 9606.ENSP00000325589 PTPRCAP 206 Protein tyrosine phosphatase, receptor type C associated protein 9606.ENSP00000325594 RUFY1 708 RUN and FYVE domain-containing protein 1; Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking; Zinc fingers FYVE-type 9606.ENSP00000325612 MED16 877 Mediator of RNA polymerase II transcription subunit 16; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000325618 PARP10 1025 Poly [ADP-ribose] polymerase 10; May play a role in cell proliferation. May be required for the maintenance of cell cycle progression; Poly(ADP-ribose) polymerases 9606.ENSP00000325634 ZNF639 485 Zinc finger protein 639; Binds DNA and may function as a transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000325638 PRM3 103 Protamine-3; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex (By similarity) 9606.ENSP00000325655 CHCHD5 110 Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins 9606.ENSP00000325663 NFKBIZ 718 NF-kappa-B inhibitor zeta; Involved in regulation of NF-kappa-B transcription factor complexes. Inhibits NF-kappa-B activity without affecting its nuclear translocation upon stimulation. Inhibits DNA-binding of RELA and NFKB1/p50, and of the NF-kappa-B p65-p50 heterodimer and the NF-kappa-B p50-p50 homodimer. Seems also to activate NF- kappa-B-mediated transcription. In vitro, upon association with NFKB1/p50 has transcriptional activation activity and, together with NFKB1/p50 and RELA, is recruited to LCN2 promoters. Promotes transcription of LCN2 and DEFB4. Is recruited to IL-6 promot [...] 9606.ENSP00000325674 EXOC3L1 746 Exocyst complex component 3-like protein; As part of the exocyst, may play a role in regulated exocytosis of insulin granules 9606.ENSP00000325677 RNF40 1001 E3 ubiquitin-protein ligase BRE1B; Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role in histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradic [...] 9606.ENSP00000325681 CCZ1 482 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated 9606.ENSP00000325682 OR2B11 317 Olfactory receptor 2B11; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000325690 CARM1 608 Histone-arginine methyltransferase CARM1; Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability. Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at 'Arg-17' (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. During nuclear hormone receptor activation and TCF7L2/TCF4 activa [...] 9606.ENSP00000325708 CD37 281 Leukocyte antigen CD37; CD37 molecule 9606.ENSP00000325738 TNP2 138 Nuclear transition protein 2; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction 9606.ENSP00000325748 STK25 426 Serine/threonine-protein kinase 25; Oxidant stress-activated serine/threonine kinase that may play a role in the response to environmental stress. Targets to the Golgi apparatus where it appears to regulate protein transport events, cell adhesion, and polarity complexes important for cell migration 9606.ENSP00000325775 GJC3 279 Gap junction gamma-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Gamma-type subfamily 9606.ENSP00000325776 SERTM1 107 Serine rich and transmembrane domain containing 1 9606.ENSP00000325785 SPECC1L 1117 Cytospin-A; Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration; Belongs to the cytospin-A family 9606.ENSP00000325808 LRRN4CL 238 LRRN4 C-terminal-like protein; Fibronectin type III domain containing 9606.ENSP00000325819 NR2F1 423 COUP transcription factor 1; Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG; Nuclear hormone receptors 9606.ENSP00000325822 CYP11B2 503 Cytochrome P450 11B2, mitochondrial; Preferentially catalyzes the conversion of 11- deoxycorticosterone to aldosterone via corticosterone and 18- hydroxycorticosterone; Belongs to the cytochrome P450 family 9606.ENSP00000325827 SEC16A 2357 Protein transport protein Sec16A; Defines endoplasmic reticulum exit sites (ERES) and is required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for normal transitional endoplasmic reticulum (tER) organization 9606.ENSP00000325836 DIRAS1 198 GTP-binding protein Di-Ras1; Displays low GTPase activity and exists predominantly in the GTP-bound form; RAS type GTPase family 9606.ENSP00000325863 MRE11A 708 Double-strand break repair protein MRE11; Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or rest [...] 9606.ENSP00000325868 ODF3 254 Outer dense fiber protein 3; Outer dense fibers are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail. May help to maintain the passive elastic structures and elastic recoil of the sperm tail 9606.ENSP00000325895 ANKDD1A 522 Ankyrin repeat and death domain containing 1A 9606.ENSP00000325905 SRSF7 238 Serine/arginine-rich splicing factor 7; Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding is semi-sequence specific 9606.ENSP00000325917 PCSK7 785 Proprotein convertase subtilisin/kexin type 7; Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway; Proprotein convertase subtilisin/kexin family 9606.ENSP00000325919 PSMG2 264 Proteasome assembly chaperone 2; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization 9606.ENSP00000325929 LNX2 690 Ligand of numb-protein X 2; PDZ domain containing 9606.ENSP00000325941 RIC8A 537 Synembryn-A; Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins. Able to activate GNAI1, GNAO1 and GNAQ, but not GNAS by exchanging bound GDP for free GTP. Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein, possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex (By similarity). Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation; Armadillo-like helical [...] 9606.ENSP00000325954 CDHR3 885 Cadherin-related family member 3; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000325958 PTPMT1 201 Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1; Lipid phosphatase which dephosphorylates phosphatidylglycerophosphate (PGP) to phosphatidylglycerol (PG). PGP is an essential intermediate in the biosynthetic pathway of cardiolipin, a mitochondrial-specific phospholipid regulating the membrane integrity and activities of the organelle. Has also been shown to display phosphatase activity toward phosphoprotein substrates, specifically mediates dephosphorylation of mitochondrial proteins, thereby playing an essential role in ATP production. Has probably a preference for p [...] 9606.ENSP00000325978 LRRC31 552 Leucine-rich repeat-containing protein 31; Leucine rich repeat containing 31 9606.ENSP00000326003 PUS10 529 Putative tRNA pseudouridine synthase Pus10; Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death 9606.ENSP00000326018 PRX 1461 Periaxin; Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. [...] 9606.ENSP00000326022 FHL5 284 Four and a half LIM domains protein 5; May be involved in the regulation of spermatogenesis. Stimulates CREM transcriptional activity in a phosphorylation- independent manner; LIM domain containing 9606.ENSP00000326031 PPP1CA 341 Serine/threonine-protein phosphatase PP1-alpha catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin de [...] 9606.ENSP00000326042 TUBA3D 450 Tubulin, alpha 3d; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Tubulins 9606.ENSP00000326063 TMEM39A 488 Transmembrane protein 39A; Belongs to the TMEM39 family 9606.ENSP00000326070 SLC41A3 507 Solute carrier family 41 member 3 9606.ENSP00000326095 RNF166 237 Ring finger protein 166 9606.ENSP00000326110 C5orf30 206 UNC119-binding protein C5orf30; Probably plays a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B. May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor cells 9606.ENSP00000326119 PMAIP1 54 Phorbol-12-myristate-13-acetate-induced protein 1; Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1; Belongs to the PMAIP1 family 9606.ENSP00000326159 KLK4 254 Kallikrein-4; Has a major role in enamel formation. Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity); Kallikreins 9606.ENSP00000326170 RFFL 363 E3 ubiquitin-protein ligase rififylin; E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates 'Lys-48'-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. Negatively regulates the tumor ne [...] 9606.ENSP00000326200 ZBTB11 1053 Zinc finger and BTB domain-containing protein 11; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000326219 DHRS4 278 Dehydrogenase/reductase SDR family member 4; Reduces all-trans-retinal and 9-cis retinal. Can also catalyze the oxidation of all-trans-retinol with NADP as co- factor, but with much lower efficiency. Reduces alkyl phenyl ketones and alpha-dicarbonyl compounds with aromatic rings, such as pyrimidine-4-aldehyde, 3-benzoylpyridine, 4-benzoylpyridine, menadione and 4-hexanoylpyridine. Has no activity towards aliphatic aldehydes and ketones (By similarity); Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000326225 OR2T8 312 Olfactory receptor 2T8; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000326227 GANC 914 Neutral alpha-glucosidase C; Has alpha-glucosidase activity 9606.ENSP00000326232 OR52D1 318 Olfactory receptor 52D1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000326238 CAPZA3 299 F-actin-capping protein subunit alpha-3; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the morphogenesis of spermatid (By similarity) 9606.ENSP00000326240 MYNN 610 Myoneurin; Zinc fingers C2H2-type; BTB domain containing 9606.ENSP00000326244 TMEM151A 468 Transmembrane protein 151A 9606.ENSP00000326247 SAMD9L 1584 Sterile alpha motif domain-containing protein 9-like; May be involved in endosome fusion. Mediates down- regulation of growth factor signaling via internalization of growth factor receptors; Sterile alpha motif domain containing 9606.ENSP00000326249 ZNF454 522 Zinc finger protein 454; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000326253 RTBDN 261 Retbindin; Riboflavin-binding protein which might have a role in retinal flavin transport 9606.ENSP00000326259 OR52H1 320 Olfactory receptor 52H1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000326261 SRRM1 904 Serine/arginine repetitive matrix protein 1; Part of pre- and post-splicing multiprotein mRNP complexes. Involved in numerous pre-mRNA processing events. Promotes constitutive and exonic splicing enhancer (ESE)-dependent splicing activation by bridging together sequence-specific (SR family proteins, SFRS4, SFRS5 and TRA2B/SFRS10) and basal snRNP (SNRP70 and SNRPA1) factors of the spliceosome. Stimulates mRNA 3'-end cleavage independently of the formation of an exon junction complex. Binds both pre-mRNA and spliced mRNA 20-25 nt upstream of exon-exon junctions. Binds RNA and DNA with lo [...] 9606.ENSP00000326267 EFCAB11 163 EF-hand calcium-binding domain-containing protein 11; EF-hand calcium binding domain 11 9606.ENSP00000326272 FOXL1 345 Forkhead box protein L1; Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity); Forkhead boxes 9606.ENSP00000326301 OR2G3 309 Olfactory receptor 2G3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000326305 SLC25A20 301 Mitochondrial carnitine/acylcarnitine carrier protein; Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway; Solute carriers 9606.ENSP00000326309 DEFB124 71 Beta-defensin 124; Has antibacterial activity; Defensins, beta 9606.ENSP00000326324 LRRC37A 1700 Leucine-rich repeat-containing protein 37A; Leucine rich repeat containing 37A 9606.ENSP00000326330 FRAS1 1976 Fraser extracellular matrix complex subunit 1 9606.ENSP00000326340 ATG16L2 619 Autophagy-related protein 16-2; May play a role in autophagy 9606.ENSP00000326342 ELMOD2 293 ELMO domain-containing protein 2; Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses 9606.ENSP00000326349 OR2G2 317 Olfactory receptor 2G2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000326366 PSEN1 467 Presenilin-1; Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the presence of the other members of the gamma-secretase complex for protease activity. Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the compl [...] 9606.ENSP00000326371 FOXC2 501 Forkhead box protein C2; Transcriptional activator. Might be involved in the formation of special mesenchymal tissues; Forkhead boxes 9606.ENSP00000326381 EIF4A2 407 Eukaryotic initiation factor 4A-II; ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon; DEAD-box helicases 9606.ENSP00000326407 CLEC1A 280 C-type lectin domain family 1 member A 9606.ENSP00000326411 CWF19L1 538 CWF19-like protein 1; CWF19 like 1, cell cycle control 9606.ENSP00000326424 NADSYN1 706 Glutamine-dependent NAD(+) synthetase; NAD synthetase 1; In the C-terminal section; belongs to the NAD synthetase family 9606.ENSP00000326432 CCR8 355 C-C chemokine receptor type 8; Receptor for the chemokine CCL1/SCYA1/I-309. May regulate monocyte chemotaxis and thymic cell line apoptosis. Alternative coreceptor with CD4 for HIV-1 infection; C-C motif chemokine receptors 9606.ENSP00000326445 SHISA3 238 Protein shisa-3 homolog; Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling; Shisa family members 9606.ENSP00000326491 ABHD1 405 Protein ABHD1; Abhydrolase domain containing 1; Belongs to the AB hydrolase superfamily. AB hydrolase 4 family 9606.ENSP00000326519 PA1 254 PAXIP1 associated glutamate rich protein 1; Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex. However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switchin [...] 9606.ENSP00000326531 THOC6 341 THO complex subunit 6 homolog; Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential [...] 9606.ENSP00000326550 TACC3 838 Transforming acidic coiled-coil-containing protein 3; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension. May be involved in the control of cell gr [...] 9606.ENSP00000326563 KDM3B 1761 Lysine-specific demethylase 3B; Histone demethylase that specifically demethylates 'Lys- 9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity; Lysine demethylases 9606.ENSP00000326570 FKRP 495 Fukutin-related protein; Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity 9606.ENSP00000326574 C9orf62 152 Putative uncharacterized protein C9orf62; Chromosome 9 open reading frame 62 9606.ENSP00000326579 HCCS 268 Cytochrome c-type heme lyase; Links covalently the heme group to the apoprotein of cytochrome c 9606.ENSP00000326581 PEG3 1588 Paternally-expressed gene 3 protein; Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000326603 SMCHD1 2005 Structural maintenance of chromosomes flexible hinge domain-containing protein 1; Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells 9606.ENSP00000326604 LMBR1 490 Limb region 1 protein homolog; Putative membrane receptor 9606.ENSP00000326627 ASIC4 647 Acid-sensing ion channel 4; Probable cation channel with high affinity for sodium. In vitro, has no proton-gated channel activity; Acid sensing ion channel subunits 9606.ENSP00000326630 ZFPM1 1006 Zinc finger protein ZFPM1; Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. The heterodimer formed with GATA proteins is essential to activate expression of genes such as NFE2, ITGA2B, alpha- and beta-globin, while it represses expression of KLF1. May be involved in regulation of som [...] 9606.ENSP00000326649 HPS1 700 Hermansky-Pudlak syndrome 1 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 9606.ENSP00000326652 FAM71F1 344 Protein FAM71F1; Family with sequence similarity 71 member F1 9606.ENSP00000326671 SLC47A2 602 Multidrug and toxin extrusion protein 2; Solute transporter for tetraethylammonium (TEA), 1- methyl-4-phenylpyridinium (MPP), cimetidine, N-methylnicotinamide, metformin, creatinine, guanidine, procainamide, topotecan, estrone sulfate, acyclovir, and ganciclovir. Responsible for the secretion of cationic drugs across the brush border membranes 9606.ENSP00000326693 SLC25A42 318 Mitochondrial coenzyme A transporter SLC25A42; Mitochondrial carrier mediating the transport of coenzyme A (CoA) in mitochondria in exchange for intramitochondrial (deoxy)adenine nucleotides and adenosine 3',5'- diphosphate; Solute carriers 9606.ENSP00000326699 CLGN 610 Calmegin; Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions (By similarity) 9606.ENSP00000326706 PLEKHO2 490 Pleckstrin homology domain containing O2 9606.ENSP00000326708 OVCH1 1134 Ovochymase-1; Ovochymase 1 9606.ENSP00000326718 OR10A7 316 Olfactory receptor 10A7; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000326737 TNFRSF12A 129 Tumor necrosis factor receptor superfamily member 12A; Receptor for TNFSF12/TWEAK. Weak inducer of apoptosis in some cell types. Promotes angiogenesis and the proliferation of endothelial cells. May modulate cellular adhesion to matrix proteins; CD molecules 9606.ENSP00000326759 LRIG3 1119 Leucine-rich repeats and immunoglobulin-like domains protein 3; May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1 (By similarity); I-set domain containing 9606.ENSP00000326767 MED25 747 Mediator of RNA polymerase II transcription subunit 25; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for RARA/RXRA-me [...] 9606.ENSP00000326804 CUL1 776 Cullin-1; Core component of multiple cullin-RING-based SCF (SKP1- CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin- protein ligase activity of the [...] 9606.ENSP00000326806 NCBP2 156 Nuclear cap-binding protein subunit 2; Component of the cap-binding complex (CBC), which binds co-transcriptionally to the 5' cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5' end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC [...] 9606.ENSP00000326813 YOD1 348 Ubiquitin thioesterase OTU1; Hydrolase that can remove conjugated ubiquitin from proteins and participates in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by triming the ubiquitin chain on the associated substrate to facilitate their threading through the VCP/p97 pore. Ubiquitin moieties on substrates may present a steric impediment to the threading process when the substrate is transferred to the VCP pore and threaded through VCP's axial channel. Mediates deubiquitination of 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. A [...] 9606.ENSP00000326817 LRRC57 239 Leucine-rich repeat-containing protein 57; Leucine rich repeat containing 57 9606.ENSP00000326846 C14orf28 310 Uncharacterized protein C14orf28; Chromosome 14 open reading frame 28 9606.ENSP00000326858 NT5DC1 455 5'-nucleotidase domain containing 1 9606.ENSP00000326869 ORMDL1 153 ORM1-like protein 1; Negative regulator of sphingolipid synthesis 9606.ENSP00000326879 C5orf22 442 UPF0489 protein C5orf22; Chromosome 5 open reading frame 22; Belongs to the UPF0489 family 9606.ENSP00000326888 LIMS2 365 LIM and senescent cell antigen-like-containing domain protein 2; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration; LIM zinc finger domain containing 9606.ENSP00000326933 SERTAD2 314 SERTA domain-containing protein 2; Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. May act as coactivator as well as corepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2F consensus binding sites, which would activate or inhibit E2F- target genes expression. Modulates fat storage by down-regulating the expression of key genes involved in adipocyte lipolysis, thermogenesis and oxidative metabolism 9606.ENSP00000326948 FTSJ1 329 Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. TRM7 subfamily 9606.ENSP00000326967 ZNF121 390 Zinc finger protein 121; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000326981 IMP3 184 U3 small nucleolar ribonucleoprotein protein IMP3; Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing; Belongs to the universal ribosomal protein uS4 family 9606.ENSP00000327009 CLIP4 705 CAP-Gly domain containing linker protein family member 4 9606.ENSP00000327025 RORC 518 Nuclear receptor ROR-gamma; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of cellular differentiation, immunity, peripheral circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respective [...] 9606.ENSP00000327048 MAF 403 Transcription factor Maf; Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 prox [...] 9606.ENSP00000327054 LMNB2 620 Lamin-B2; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin; Belongs to the intermediate filament family 9606.ENSP00000327070 MDH2 338 Malate dehydrogenase, mitochondrial; Malate dehydrogenase 2 9606.ENSP00000327077 PCM1 2024 Pericentriolar material 1 protein; Required for centrosome assembly and function. Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2. Required to anchor microtubules to the centrosome. Involved in the biogenesis of cilia; Belongs to the PCM1 family 9606.ENSP00000327104 DDHD1 900 Phospholipase DDHD1; Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity; Belongs to the PA-PLA1 family 9606.ENSP00000327116 EHD3 535 EH domain-containing protein 3; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes tubulation of endocytic membranes. Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology. Involved in the recycling of internalized D1 [...] 9606.ENSP00000327124 MIEF1 463 Mitochondrial dynamics protein MID51; Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assem [...] 9606.ENSP00000327143 ZNF354B 612 Zinc finger protein 354B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000327145 FLNC 2725 Filamin-C; Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers 9606.ENSP00000327168 PRR7 274 Proline-rich protein 7; Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN. Might play a redundant role in the regulation of T cell receptor signaling. Might promote apoptosis in T cells 9606.ENSP00000327179 CIRH1A 686 U3 small nucleolar RNA-associated protein 4 homolog; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase. May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV 9606.ENSP00000327191 CCT6B 530 T-complex protein 1 subunit zeta-2; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin (By similarity); Chaperonins 9606.ENSP00000327197 SENP5 755 Sentrin-specific protease 5; Protease that catalyzes two essential functions in the SUMO pathway: processing of full-length SUMO3 to its mature form and deconjugation of SUMO2 and SUMO3 from targeted proteins. Has weak proteolytic activity against full-length SUMO1 or SUMO1 conjugates. Required for cell division; SUMO specific peptidases 9606.ENSP00000327214 ATP13A2 1180 Cation-transporting ATPase 13A2; ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity. Required for a proper lysosomal and mitochondrial maintenance; ATPase orphan transporters 9606.ENSP00000327234 TMCO5A 288 Transmembrane and coiled-coil domains 5A; Belongs to the TMCO5 family 9606.ENSP00000327246 VIPR1 457 Vasoactive intestinal polypeptide receptor 1; This is a receptor for VIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The affinity is VIP = PACAP-27 > PACAP-38; Vasoactive intestinal peptide receptor family 9606.ENSP00000327251 NOS2 1153 Nitric oxide synthase, inducible; Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (By similarity). As component of the iNOS-S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on 'Cys-247' implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR [...] 9606.ENSP00000327255 PPM1A 455 Protein phosphatase 1A; Enzyme with a broad specificity. Negatively regulates TGF-beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB; Belongs to the PP2C family 9606.ENSP00000327268 NDUFV2 249 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity); NADH:ubiquinone oxidoreductase core subunits 9606.ENSP00000327290 ITGA11 1188 Integrin alpha-11; Integrin alpha-11/beta-1 is a receptor for collagen 9606.ENSP00000327323 THNSL2 484 Threonine synthase-like 2; Isoform 1: Acts as a catabolic phospho-lyase on both gamma- and beta-phosphorylated substrates. Degrades O-phospho- threonine (PThr) to alpha-ketobutyrate, ammonia and phosphate (By similarity) 9606.ENSP00000327336 BGN 368 Biglycan; May be involved in collagen fiber assembly; Small leucine rich repeat proteoglycans 9606.ENSP00000327344 IGIP 53 IgA-inducing protein homolog; Enhances IgA secretion from B-cells stimulated via CD40 9606.ENSP00000327368 COL10A1 680 Collagen alpha-1(X) chain; Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage; Collagens 9606.ENSP00000327417 GPR39 453 G-protein coupled receptor 39; Zn(2+) acts as an agonist. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated mainly through G(q)-alpha and G(12)/G(13) proteins. Involved in regulation of body weight, gastrointestinal mobility, hormone secretion and cell death (By similarity); G protein-coupled receptors, Class A orphans 9606.ENSP00000327427 ENSG00000181638 198 ZFP41 zinc finger protein; A putative DNA-binding regulatory protein associated with meiosis in spermatogenesis; Zinc fingers C2H2-type 9606.ENSP00000327431 HBG1 147 Hemoglobin subunit gamma 1 9606.ENSP00000327436 SETD3 594 Histone-lysine N-methyltransferase setd3; Histone methyltransferase that methylates 'Lys-4' and 'Lys-36' of histone H3 (H3K4me and H3K36me). Acts as a transcriptional activator. Plays an important role in the transcriptional regulation of muscle cell differentiation via interaction with MYOD1; SET domain containing 9606.ENSP00000327440 BMP8A 402 Bone morphogenetic protein 8A; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT; Bone morphogenetic proteins 9606.ENSP00000327453 ACSM2B 577 Acyl-coenzyme A synthetase ACSM2B, mitochondrial; Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro); Acyl-CoA synthetase family 9606.ENSP00000327459 APOBEC3B 382 DNA dC->dU-editing enzyme APOBEC-3B; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamina [...] 9606.ENSP00000327465 MYT1 1121 Myelin transcription factor 1; Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up- regulation of myelin gene transcription; Belongs to the MYT1 family 9606.ENSP00000327467 SMDT1 107 Essential MCU regulator, mitochondrial; Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria. Required to bridge the calcium- sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU. Plays a central role in regulating the uniplex complex response to intracellular calcium signaling. Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling; Belo [...] 9606.ENSP00000327468 KLHDC8B 354 Kelch domain-containing protein 8B; Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis. Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells 9606.ENSP00000327487 TSEN54 526 tRNA-splicing endonuclease subunit Sen54; Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA bo [...] 9606.ENSP00000327506 C16orf54 224 Transmembrane protein C16orf54; Chromosome 16 open reading frame 54 9606.ENSP00000327509 STAC2 411 SH3 and cysteine rich domain 2 9606.ENSP00000327513 CSF1 554 Macrophage colony-stimulating factor 1; Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female [...] 9606.ENSP00000327525 OR4F6 312 Olfactory receptor 4F6; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000327533 LYG2 212 Lysozyme g-like protein 2; May act as a potent antibacterial protein that may play a role in the innate immunity; Belongs to the glycosyl hydrolase 23 family 9606.ENSP00000327538 ZNF534 674 Zinc finger protein 534; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000327540 OR51B2 312 Olfactory receptor 51B2; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000327545 NPTXR 500 Neuronal pentraxin receptor; May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses; Long pentraxins 9606.ENSP00000327557 PAPL 438 Iron/zinc purple acid phosphatase-like protein ; Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family 9606.ENSP00000327569 SLC22A10 541 Solute carrier family 22 member 10 9606.ENSP00000327585 OR1D2 312 Olfactory receptor 1D2; Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000327589 GLUD2 558 Glutamate dehydrogenase 2, mitochondrial; Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission; Belongs to the Glu/Leu/Phe/Val dehydrogenases family 9606.ENSP00000327599 CLEC4G 293 C-type lectin domain family 4 member G; Binds mannose, N-acetylglucosamine (GlcNAc) and fucose, but not galactose, in a Ca(2+)-dependent manner, in vitro; C-type lectin domain containing 9606.ENSP00000327604 TRIM49 452 Tripartite motif containing 49; Ring finger proteins 9606.ENSP00000327608 ADAMTSL5 471 ADAMTS-like protein 5; May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM); ADAMTS like 9606.ENSP00000327611 KCNK12 430 Potassium channel subfamily K member 12; Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity); Potassium two pore domain channel subfamily K 9606.ENSP00000327650 VPS33B 617 Vacuolar protein sorting-associated protein 33B; May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages. Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity. Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesic [...] 9606.ENSP00000327675 LRRC14B 514 Leucine-rich repeat-containing protein 14B; Leucine rich repeat containing 14B; Belongs to the PRAME family. LRRC14 subfamily 9606.ENSP00000327694 AP2A2 940 AP-2 complex subunit alpha-2; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold [...] 9606.ENSP00000327716 WRB 174 Tail-anchored protein insertion receptor WRB; Receptor for ASNA1/TRC40-mediated insertion of tail- anchored (TA) proteins into the ER membrane; Belongs to the WRB/GET1 family 9606.ENSP00000327724 TAS2R60 318 Taste receptor type 2 member 60; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000327732 C7orf61 206 Uncharacterized protein C7orf61; Chromosome 7 open reading frame 61 9606.ENSP00000327738 TRIML1 468 Probable E3 ubiquitin-protein ligase TRIML1; Probable E3 ubiquitin-protein ligase which plays an important role in blastocyst development; Ring finger proteins 9606.ENSP00000327758 NKX2-5 324 Homeobox protein Nkx-2.5; Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter. It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000327763 NLRP10 655 NACHT, LRR and PYD domains-containing protein 10; Inhibits autoprocessing of CASP1, CASP1-dependent IL1B secretion, PYCARD aggregation and PYCARD-mediated apoptosis but not apoptosis induced by FAS or BID. Displays anti-inflammatory activity. Required for immunity against C.albicans infection (By similarity). Involved in the innate immune response by contributing to proinflammatory cytokine release in response to invasive bacterial infection. Contributes to T-cell-mediated inflammatory responses in the skin (By similarity). Plays a role in protection against periodontitis through its i [...] 9606.ENSP00000327786 IZUMO1 350 Izumo sperm-egg fusion protein 1; Essential sperm cell-surface protein required for fertilization by acting as a ligand for IZUMO1R/JUNO receptor on egg. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen' 9606.ENSP00000327796 DCAF4L1 396 DDB1- and CUL4-associated factor 4-like protein 1; DDB1 and CUL4 associated factor 4 like 1; WD repeat domain containing 9606.ENSP00000327801 P4HB 508 Protein disulfide-isomerase; This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations, functions as a chaperone that inhibits aggregation of misfolded proteins. At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chape [...] 9606.ENSP00000327821 XPOT 962 Exportin-T; Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP- bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nuc [...] 9606.ENSP00000327824 IFNLR1 520 Interferon lambda receptor 1; The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state. Determines the cell type specificity of the lambda interferon action. Shows a more restricted pattern of expression in the epithelial tissues thereby limiting responses to lambda interferons primarily to epithelial cells of the respiratory, gastrointestinal, [...] 9606.ENSP00000327832 ATAT1 409 Alpha-tubulin N-acetyltransferase 1; Specifically acetylates 'Lys-40' in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dyn [...] 9606.ENSP00000327846 SH2D7 451 SH2 domain containing 7 9606.ENSP00000327875 LPAR5 372 Lysophosphatidic acid receptor 5; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities 9606.ENSP00000327889 INTS5 1019 Integrator complex subunit 5; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex; Armadillo-like helical domain containing 9606.ENSP00000327890 IL3RA 378 Interleukin-3 receptor subunit alpha; This is a receptor for interleukin-3; CD molecules 9606.ENSP00000327916 ACSM5 579 Acyl-coenzyme A synthetase ACSM5, mitochondrial; Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000327943 SLC5A2 672 Sodium/glucose cotransporter 2; Sodium-dependent glucose transporter. Has a Na(+) to glucose coupling ratio of 1:1; Solute carriers 9606.ENSP00000327950 C19orf71 209 Uncharacterized protein C19orf71; Chromosome 19 open reading frame 71 9606.ENSP00000327959 TGIF1 401 Homeobox protein TGIF1; Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII- RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activiti [...] 9606.ENSP00000327968 SNAI3 292 Zinc finger protein SNAI3; Seems to inhibit myoblast differentiation. Transcriptional repressor of E-box-dependent transactivation of downstream myogenic bHLHs genes. Binds preferentially to the canonical E-box sequences 5'-CAGGTG-3' and 5'-CACCTG-3' (By similarity); SNAG transcriptional repressors 9606.ENSP00000327975 DHRS7C 312 Dehydrogenase/reductase SDR family member 7C; Putative oxidoreductase; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000327994 TRIM50 487 E3 ubiquitin-protein ligase TRIM50; E3 ubiquitin-protein ligase; Ring finger proteins 9606.ENSP00000328004 YAF2 204 YY1 associated factor 2, isoform CRA_d; Zinc fingers RANBP2-type 9606.ENSP00000328016 TNFAIP8L3 292 Tumor necrosis factor alpha-induced protein 8-like protein 3; Acts as a lipid transfer protein. Preferentially captures and shuttles two lipid second messengers, i.e., phosphatidylinositol 4,5- bisphosphate and phosphatidylinositol 3,4,5-trisphosphate and increases their levels in the plasma membrane. Additionally, may also function as a lipid-presenting protein to enhance the activity of the PI3K-AKT and MEK-ERK pathways. May act as a regulator of tumorigenesis through its activation of phospholipid signaling; Belongs to the TNFAIP8 family 9606.ENSP00000328017 KRBA2 492 KRAB-A domain containing 2 9606.ENSP00000328023 SRPR 638 Signal recognition particle receptor subunit alpha; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system 9606.ENSP00000328036 DGAT2L6 337 Diacylglycerol O-acyltransferase 2-like protein 6; Probable acyltransferase uses fatty acyl-CoA as substrate (By similarity). Has no wax synthase activity to produce wax esters; Diacylglycerol O-acyltransferase 2 family 9606.ENSP00000328054 CCDC144NL 221 Putative coiled-coil domain-containing protein 144 N-terminal-like; Coiled-coil domain containing 144 family, N-terminal like; Belongs to the CCDC144 family 9606.ENSP00000328059 RLIM 624 E3 ubiquitin-protein ligase RLIM; E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex. Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of [...] 9606.ENSP00000328061 C17orf74 501 Uncharacterized protein SPEM2; Chromosome 17 open reading frame 74 9606.ENSP00000328069 C6orf58 330 Protein LEG1 homolog; May be involved in early liver development 9606.ENSP00000328070 GLTPD2 291 Glycolipid transfer protein domain containing 2; Belongs to the GLTP family 9606.ENSP00000328079 WDR53 358 WD repeat-containing protein 53; WD repeat domain containing; Belongs to the WD repeat WDR53 family 9606.ENSP00000328083 ARHGEF37 675 Rho guanine nucleotide exchange factor 37; May act as a guanine nucleotide exchange factor (GEF); Classical BAR domain containing 9606.ENSP00000328088 PAWR 340 PRKC apoptosis WT1 regulator protein; Pro-apoptopic protein capable of selectively inducing apoptosis in cancer cells, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models. Induces apoptosis in certain cancer cells by activation of the Fas prodeath pathway and coparallel inhibition of NF-kappa-B transcriptional activity. Inhibits the transcriptional activation and augments the transcriptional repression mediated by WT1. Down- regulates the anti-apoptotic protein BCL2 via its interaction with WT1. Seems also to be a transcriptional repress [...] 9606.ENSP00000328090 OTOP3 596 Otopetrin-3; Otopetrin 3 9606.ENSP00000328111 IL25 177 Interleukin-25; Induces activation of NF-kappa-B and stimulates production of the proinflammatory chemokine IL-8. Proinflammatory cytokine favoring Th2-type immune responses; Belongs to the IL-17 family 9606.ENSP00000328118 MCF2L2 1114 Probable guanine nucleotide exchange factor MCF2L2; Probably functions as a guanine nucleotide exchange factor; Belongs to the MCF2 family 9606.ENSP00000328133 IL20RB 311 Interleukin-20 receptor subunit beta; The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL22RA1/IL20RB dimer is a receptor for IL20 and IL24; Fibronectin type III domain containing 9606.ENSP00000328144 OR7A17 309 Olfactory receptor 7A17; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000328149 SPATA8 105 Spermatogenesis-associated protein 8; Spermatogenesis associated 8 9606.ENSP00000328169 JAG2 1238 Protein jagged-2; Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity) 9606.ENSP00000328174 PIF1 707 ATP-dependent DNA helicase PIF1; DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of both mitochondrial and nuclear genome stability. Efficiently unwinds G-quadruplex (G4) DNA structures and forked RNA-DNA hybrids. Resolves G4 structures, preventing replication pausing and double-strand breaks (DSBs) at G4 motifs. Involved in the maintenance of telomeric DNA. Inhibits telomere elongation, de novo telomere formation and telomere addition to DSBs via catalytic inhibition of telomerase. Reduces the processivity of telomerase by displacing active telomerase from DNA [...] 9606.ENSP00000328181 NOG 232 Noggin; Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 9606.ENSP00000328182 CLN8 286 Protein CLN8; Could play a role in cell proliferation during neuronal differentiation and in protection against cell death; TLC domain containing 9606.ENSP00000328187 FBXO21 628 F-box only protein 21; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000328203 TRAIP 469 E3 ubiquitin-protein ligase TRAIP; E3 ubiquitin ligase acting as a negative regulator of innate immune signaling. Inhibits activation of NF-kappa-B mediated by TNF. Negatively regulates TLR3/4- and RIG-I-mediated IRF3 activation and subsequent IFNB1 production and cellular antiviral response by promoting 'Lys-48'-linked polyubiquitination of TNK1 leading to its proteasomal degradation (By similarity). Involved in response to genotoxic lesions during genome replication. Promotes H2AX and RPA2 phosphorylation after replication-associated DNA damage and assists fork progression at UV-indu [...] 9606.ENSP00000328207 TNFRSF18 255 Tumor necrosis factor receptor superfamily member 18; Receptor for TNFSF18. Seems to be involved in interactions between activated T-lymphocytes and endothelial cells and in the regulation of T-cell receptor-mediated cell death. Mediated NF-kappa-B activation via the TRAF2/NIK pathway; CD molecules 9606.ENSP00000328215 OR56A4 365 Olfactory receptor 56A4; Odorant receptor; Olfactory receptors, family 56 9606.ENSP00000328228 CDCA2 1023 Cell division cycle-associated protein 2; Regulator of chromosome structure during mitosis required for condensin-depleted chromosomes to retain their compact architecture through anaphase. Acts by mediating the recruitment of phopsphatase PP1-gamma subunit (PPP1CC) to chromatin at anaphase and into the following interphase. At anaphase onset, its association with chromatin targets a pool of PPP1CC to dephosphorylate substrates; Protein phosphatase 1 regulatory subunits 9606.ENSP00000328230 FFAR3 346 Free fatty acid receptor 3; G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha fa [...] 9606.ENSP00000328232 TCEB3C 546 Elongin-A3; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A3 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) 9606.ENSP00000328236 KNTC1 2209 Kinetochore-associated protein 1; Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex 9606.ENSP00000328245 ZNF71 489 Endothelial zinc finger protein induced by tumor necrosis factor alpha; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000328251 MINA 465 Ribosomal oxygenase 2; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Is involved in the demethylation of trimethylated 'Lys-9' on histone H3 (H3K9me3), leading to an increase in ribosomal RNA expression. Also catalyzes the hydroxylation of 60S ribosomal protein L27a on 'His-39'. May play an important role in cell growth and survival. May be involved in ribosome biogenesis, most likely during the assembly process of pre-ribosomal particles; Belongs to the ROX family. MINA53 subfamily 9606.ENSP00000328269 HMG20B 317 High mobility group 20B; Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters; Non-canonical high mobility group 9606.ENSP00000328270 KRTAP4-6 205 Keratin-associated protein 4-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family 9606.ENSP00000328277 B4GALNT4 1039 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1; Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans; Belongs to the chondroitin N- acetylgalactosaminyltransferase family 9606.ENSP00000328287 RNF123 1314 E3 ubiquitin-protein ligase RNF123; Catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle; Armadillo-like helical domain containing 9606.ENSP00000328307 FAM47B 645 Protein FAM47B; Family with sequence similarity 47 member B; Belongs to the FAM47 family 9606.ENSP00000328325 PTTG1IP 180 Pituitary tumor-transforming gene 1 protein-interacting protein; May facilitate PTTG1 nuclear translocation 9606.ENSP00000328326 XKR4 650 XK-related protein 4; XK related family 9606.ENSP00000328327 ASB7 318 Ankyrin repeat and SOCS box protein 7; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000328335 SMIM10 83 Small integral membrane protein 10 9606.ENSP00000328336 CEND1 149 Cell cycle exit and neuronal differentiation protein 1; Involved in neuronal differentiation; Belongs to the CEND1 family 9606.ENSP00000328340 RNF135 432 E3 ubiquitin-protein ligase RNF135; Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production; Ring finger proteins 9606.ENSP00000328347 FAM110C 321 Protein FAM110C; May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway 9606.ENSP00000328352 KCTD11 232 BTB/POZ domain-containing protein KCTD11; Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of t [...] 9606.ENSP00000328358 KRT79 535 Keratin, type II cytoskeletal 79; Keratins, type II; Belongs to the intermediate filament family 9606.ENSP00000328359 DEFA3 94 Neutrophil defensin 3; Defensin 2 and defensin 3 have antibiotic, fungicide and antiviral activities. Has antimicrobial activity against Gram- negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane; Defensins, alpha 9606.ENSP00000328364 MAFA 353 Transcription factor MafA; Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b and activates insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1. Phosphorylation by GSK3 increases its transcriptional activity and is required for its oncogenic activity. Involved either as an oncogene or as a tumor suppressor, depending on the cell context; Belongs to the bZIP family. Maf subfamily 9606.ENSP00000328397 VMO1 202 Vitelline membrane outer layer 1 homolog; Belongs to the VMO1 family 9606.ENSP00000328402 OR6C76 312 Olfactory receptor 6C76; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000328405 DGKA 735 Diacylglycerol kinase alpha; Upon cell stimulation converts the second messenger diacylglycerol into phosphatidate, initiating the resynthesis of phosphatidylinositols and attenuating protein kinase C activity 9606.ENSP00000328412 PDE6G 87 Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones; Phosphodiesterases 9606.ENSP00000328423 REC114 266 Meiotic recombination protein REC114; Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and MEI4, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis 9606.ENSP00000328426 FAM208B 2430 Protein FAM208B; Family with sequence similarity 208 member B; Belongs to the FAM208 family 9606.ENSP00000328444 KRTAP4-8 185 Keratin-associated protein 4-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family 9606.ENSP00000328472 S1PR5 398 Sphingosine 1-phosphate receptor 5; Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. Is coupled to both the G(i/0)alpha and G(12) subclass of heteromeric G-proteins (By similarity). May play a regulatory role in the transformation of radial glial cells into astrocytes and may affect proliferative activity of these cells; Sphingosine 1-phosphate receptors 9606.ENSP00000328478 CNGA2 664 Cyclic nucleotide-gated olfactory channel; Odorant signal transduction is probably mediated by a G- protein coupled cascade using cAMP as second messenger. The olfactory channel can be shown to be activated by cyclic nucleotides which leads to a depolarization of olfactory sensory neurons; Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA2 subfamily 9606.ENSP00000328484 HIST1H2AJ 128 Histone H2A type 1-J; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000328487 CCDC87 849 Coiled-coil domain containing 87 9606.ENSP00000328511 KCNA4 653 Potassium voltage-gated channel subfamily A member 4; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; [...] 9606.ENSP00000328515 ZNF696 374 Zinc finger protein 696; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000328524 DENND5A 1287 DENN domain-containing protein 5A; Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity); Belongs to the RAB6IP1 family 9606.ENSP00000328547 DNMT3B 853 DNA (cytosine-5)-methyltransferase 3B; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co- repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression b [...] 9606.ENSP00000328551 RAB28 221 Ras-related protein Rab-28; RAB28, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000328563 OR4D9 314 Olfactory receptor 4D9; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000328570 GLRX5 157 Glutaredoxin-related protein 5, mitochondrial; Monothiol glutaredoxin involved in the biogenesis of iron-sulfur clusters. Involved in protein lipoylation, acting in the pathway that provides an iron-sulfur cluster to lipoate synthase. Required for normal iron homeostasis. Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1. May protect cells against apoptosis due to reactive oxygen species and oxidative stress (By similarity) 9606.ENSP00000328596 SIX6 246 Homeobox protein SIX6; May be involved in eye development; SINE class homeoboxes 9606.ENSP00000328598 HOXD1 328 Homeobox protein Hox-D1; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures; HOXL subclass homeoboxes 9606.ENSP00000328625 NRROS 692 Negative regulator of reactive oxygen species; Negative regulator of reactive oxygen species (ROS) that limits ROS production by phagocytes during inflammatory response, thereby playing a role during host defense. Acts via direct interaction with CYBB/NOX2 monomer that impairs interaction between CYBB/NOX2 and CYBA/p22-phox and formation of a stable NOX2 complex (By similarity). May play a critical role in desensitizing TLR signaling through inhibition of Toll-like receptor-mediated NF-kappa-B activation and cytokine production 9606.ENSP00000328676 DSCR4 118 Down syndrome critical region 4 9606.ENSP00000328677 C2CD4C 421 C2 calcium-dependent domain-containing protein 4C; C2 calcium dependent domain containing 4C; Belongs to the C2CD4 family 9606.ENSP00000328694 MOB2 268 MOB kinase activator 2; Stimulates the autophosphorylation and kinase activity of STK38 and STK38L; Belongs to the MOB1/phocein family 9606.ENSP00000328698 C10orf107 208 Ciliary-associated calcium-binding coiled-coil protein 1; Calcium-binding protein. May be involved in the control of sperm flagellar movement 9606.ENSP00000328708 RXFP3 469 Relaxin-3 receptor 1; Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation; Relaxin family peptide receptors 9606.ENSP00000328720 FOXK1 733 Forkhead box protein K1; Transcriptional regulator that binds to the upstream enhancer region (CCAC box) of myoglobin gene (By similarity). Important regulatory factor of the myogenic progenitor cell population (By similarity). Involved in the cell cycle process, promotes proliferation by repressing Foxo4 transcriptional activity and the cyclin-dependent kinase inhibitor, p21CIP, in the myogenic progenitor cells (By similarity). Represses myogenic differentiation by inhibiting MEFC acitivity (By similarity). Has a role in remodeling processes of adult muscles that occur in response to [...] 9606.ENSP00000328729 SEP15 165 Selenoprotein F; May be involved in redox reactions associated with the formation of disulfide bonds. May contribute to the quality control of protein folding in the endoplasmic reticulum (By similarity); Belongs to the selenoprotein M/F family 9606.ENSP00000328768 PRR23B 265 Proline-rich protein 23B; Proline rich 23B; Belongs to the PRR23 family 9606.ENSP00000328773 HEXIM1 359 Protein HEXIM1; Transcriptional regulator which functions as a general RNA polymerase II transcription inhibitor. In cooperation with 7SK snRNA sequesters P-TEFb in a large inactive 7SK snRNP complex preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation. May also regulate NF-kappa-B, ESR1, NR3C1 and CIITA-dependent transcriptional activity. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response a [...] 9606.ENSP00000328777 EFNA5 228 Ephrin-A5; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Induces compartmentalized signaling within a caveolae-like memb [...] 9606.ENSP00000328813 KCNH8 1107 Potassium voltage-gated channel subfamily H member 8; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-subfamily 9606.ENSP00000328818 GPR132 380 Probable G-protein coupled receptor 132; May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9- hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton- sens [...] 9606.ENSP00000328835 TOP1MT 601 DNA topoisomerase I, mitochondrial; Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, [...] 9606.ENSP00000328848 RBM10 995 RNA-binding protein 10; May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity). May bind to specific miRNA hairpins; G-patch domain containing 9606.ENSP00000328854 NOC4L 516 Nucleolar complex protein 4 homolog; Armadillo-like helical domain containing; Belongs to the CBF/MAK21 family 9606.ENSP00000328875 TRAK2 914 Trafficking kinesin-binding protein 2; May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR 9606.ENSP00000328878 OR52E6 313 Olfactory receptor 52E6; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000328901 GTF2H2 395 General transcription factor IIH subunit 2; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C- terminus is required for a successful escape of RNAP II form the promoter; Belongs to the GTF2H2 family 9606.ENSP00000328923 KANK3 821 KN motif and ankyrin repeat domain-containing protein 3; May be involved in the control of cytoskeleton formation by regulating actin polymerization; Ankyrin repeat domain containing 9606.ENSP00000328928 HOXB4 251 Homeobox protein Hox-B4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000328934 OR2T11 316 Olfactory receptor 2T11; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000328938 AFMID 308 Kynurenine formamidase; Catalyzes the hydrolysis of N-formyl-L-kynurenine to L- kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites 9606.ENSP00000328940 SLX1B 275 Structure-specific endonuclease subunit SLX1; Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products 9606.ENSP00000328977 RPH3AL 315 Rab effector Noc2; Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells 9606.ENSP00000328983 CHST6 395 Carbohydrate sulfotransferase 6; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan. Mediates sulfation of keratan in cornea. Keratan sulfate plays a central role in maintaining corneal transparency. Acts on the non-reducing terminal GlcNAc of short and long carbohydrate substrates that have poly-N- acetyllactosamine structures; Belongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily 9606.ENSP00000328992 PAXBP1 917 PAX3- and PAX7-binding protein 1; Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of 'Lys-4' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20 (By similarity) 9606.ENSP00000328998 TRAK1 953 Trafficking kinesin-binding protein 1; Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors 9606.ENSP00000329002 HAX1 279 HCLS1-associated protein X-1; Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex. Slows down the rate of inactivation of KCNC3 channels. Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools; Belongs to the HAX1 family 9606.ENSP00000329033 SLC25A18 315 Mitochondrial glutamate carrier 2; Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+); Solute carriers 9606.ENSP00000329040 FAM174B 159 Membrane protein FAM174B; Family with sequence similarity 174 member B 9606.ENSP00000329056 OR4C46 309 Olfactory receptor 4C46; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000329093 TPH2 490 Tryptophan hydroxylase 2 9606.ENSP00000329097 PHF6 365 PHD finger protein 6; Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription; PHD finger proteins 9606.ENSP00000329102 LIN9 558 Protein lin-9 homolog; Acts as a tumor suppressor. Inhibits DNA synthesis. Its ability to inhibit oncogenic transformation is mediated through its association with RB1. Plays a role in the expression of genes required for the G1/S transition; Belongs to the lin-9 family 9606.ENSP00000329117 AMER1 1135 APC membrane recruitment protein 1; Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta- cate [...] 9606.ENSP00000329127 PRKCH 683 Protein kinase C eta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiat [...] 9606.ENSP00000329137 FAM132A 302 Adipolin; Insulin-sensitizing adipocyte-secreted protein (adipokine) that regulates glucose metabolism in liver and adipose tissue. Promotes glucose uptake in adipocytes and suppresses de novo glucose production in hepatocytes via the PI3K-Akt signaling pathway. Administration lead to reduction of blood glucose. Able to attenuate inflammation in fat tissue 9606.ENSP00000329140 CREB3L2 520 Cyclic AMP-responsive element-binding protein 3-like protein 2; Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target ge [...] 9606.ENSP00000329153 OR6C70 312 Olfactory receptor 6C70; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000329158 CLRN1 245 Clarin-1; May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina; Belongs to the clarin family 9606.ENSP00000329165 KRT36 467 Keratin, type I cuticular Ha6; Keratins, type I 9606.ENSP00000329170 POU3F2 443 POU domain, class 3, transcription factor 2; Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, ('GCAT') and ('TAAT'), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL [...] 9606.ENSP00000329200 STAC3 364 SH3 and cysteine-rich domain-containing protein 3; In skeletal muscles contraction, may play a role in neuromuscular synaptic transmission 9606.ENSP00000329210 OR2T10 312 Olfactory receptor 2T10; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000329213 SIVA1 175 Apoptosis regulatory protein Siva; Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl-x(L) anti-apoptotic activity. Inhibits activation of NF-kappa- B and promotes T-cell receptor-mediated apoptosis 9606.ENSP00000329214 ST6GALNAC3 305 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3; Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. ST6GalNAcIII prefers glycolipids to glycoproteins (By similarity); Sialyltransferases 9606.ENSP00000329219 FMNL1 1100 Formin-like protein 1; May play a role in the control of cell motility and survival of macrophages (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape; Armadillo-like helical domain containing 9606.ENSP00000329243 KRT7 469 Keratin, type II cytoskeletal 7; Blocks interferon-dependent interphase and stimulates DNA synthesis in cells. Involved in the translational regulation of the human papillomavirus type 16 E7 mRNA (HPV16 E7); Keratins, type II 9606.ENSP00000329264 ZNF662 452 Zinc finger protein 662; Zinc fingers C2H2-type 9606.ENSP00000329287 SNN 88 Stannin; Plays a role in the toxic effects of organotins. Plays a role in endosomal maturation 9606.ENSP00000329292 GKN2 184 Gastrokine-2; BRICHOS domain containing 9606.ENSP00000329295 NXPH3 252 Neurexophilin-3; May be signaling molecules that resemble neuropeptides. Ligand for alpha-neurexins (By similarity); Belongs to the neurexophilin family 9606.ENSP00000329312 IGLL1 213 Immunoglobulin lambda-like polypeptide 1; Critical for B-cell development; C1-set domain containing 9606.ENSP00000329318 CECR6 578 Transmembrane protein 121B; Cat eye syndrome chromosome region, candidate 6 9606.ENSP00000329353 C17orf77 243 Uncharacterized protein C17orf77; Chromosome 17 open reading frame 77 9606.ENSP00000329357 SP1 785 Transcription factor Sp1; Transcription factor that can activate or repress transcription in response to physiological and pathological stimuli. Binds with high affinity to GC-rich motifs and regulates the expression of a large number of genes involved in a variety of processes such as cell growth, apoptosis, differentiation and immune responses. Highly regulated by post-translational modifications (phosphorylations, sumoylation, proteolytic cleavage, glycosylation and acetylation). Binds also the PDGFR- alpha G-box promoter. May have a role in modulating the cellular response to DNA d [...] 9606.ENSP00000329360 CCDC137 289 Coiled-coil domain containing 137 9606.ENSP00000329374 SERPINA7 415 Thyroxine-binding globulin; Major thyroid hormone transport protein in serum; Belongs to the serpin family 9606.ENSP00000329380 GP1BA 652 Platelet glycoprotein Ib alpha chain; GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium; CD molecules 9606.ENSP00000329403 PCP4 62 Calmodulin regulator protein PCP4; Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls. For instance, may play a role in neuronal differentiation through activation of calmodulin-dependent kinase signaling pathways; Belongs to the PCP4 family 9606.ENSP00000329418 SOCS1 211 Suppressor of cytokine signaling 1; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS1 is involved in negative regulation of cytokines that signal through the JAK/STAT3 pathway. Through binding to JAKs, inhibits their kinase activity. In vitro, also suppresses Tec protein- tyrosine activity. Appears to be a major regulator of signaling by interleukin 6 (IL6) and leukemia inhibitory factor (LIF). Regulates interferon-gamma mediated sensory neuron survival (By similarity). Probable substrate recognition component of a [...] 9606.ENSP00000329419 COPB2 906 Coatomer subunit beta; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also infl [...] 9606.ENSP00000329452 SLC25A21 299 Mitochondrial 2-oxodicarboxylate carrier; Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2- oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000329466 SIRT7 400 NAD-dependent protein deacetylase sirtuin-7; NAD-dependent protein deacetylase that specifically mediates deacetylation of histone H3 at 'Lys-18' (H3K18Ac). In contrast to other histone deacetylases, displays selectivity for a single histone mark, H3K18Ac, directly linked to control of gene expression. H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors. SIRT7 thereby acts as a transcription repressor. Moreover, H3K18 hypoacetylation has been reported as a marker of malignancy in various cancers and seems [...] 9606.ENSP00000329467 ENSG00000182974 313 Uncharacterized protein; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000329468 ADAP2 381 Arf-GAP with dual PH domain-containing protein 2; GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5- trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity; ArfGAPs 9606.ENSP00000329471 KDELR1 212 ER lumen protein-retaining receptor 1; Required for the retention of luminal endoplasmic reticulum resident proteins via vesicular recycling. This receptor recognizes the C-terminal K-D-E-L motif. COPI-coated transport intermediates, either in the form of round vesicles or as tubular processes, mediate retrograde traffic of the KDEL receptor-ligand complexes. Also required for normal vesicular traffic through the Golgi 9606.ENSP00000329507 CD300C 224 CMRF35-like molecule 6; V-set domain containing; Belongs to the CD300 family 9606.ENSP00000329522 SPDYE4 237 Speedy protein E4; speedy/RINGO cell cycle regulator family member E4; Belongs to the Speedy/Ringo family 9606.ENSP00000329548 TUSC5 177 Tumor suppressor candidate 5; May be involved in fat metabolism; Belongs to the CD225/Dispanin family 9606.ENSP00000329557 TMEM89 159 Transmembrane protein 89 9606.ENSP00000329558 GRPEL2 225 GrpE protein homolog 2, mitochondrial; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins. Stimulates ATPase activity of mt-HSP70. May also serve to modulate the interconversion of oligomeric (inactive) and monomeric (active) forms of mt-HSP70 (By similarity); Belongs to the GrpE family 9606.ENSP00000329565 SPDYE3 549 Speedy protein E3; speedy/RINGO cell cycle regulator family member E3 9606.ENSP00000329584 ODF3L1 274 Outer dense fiber of sperm tails 3 like 1; Belongs to the ODF3 family 9606.ENSP00000329614 YBEY 167 Endoribonuclease YbeY; Single strand-specific metallo-endoribonuclease involved in rRNA maturation 9606.ENSP00000329638 ZNF804B 1349 Zinc finger protein 804B 9606.ENSP00000329647 ACTL10 245 Actin-like protein 10; Actin related proteins; Belongs to the actin family 9606.ENSP00000329654 WBSCR17 598 Polypeptide N-acetylgalactosaminyltransferase 17; May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor 9606.ENSP00000329662 H1FX 213 Histone H1x; Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures 9606.ENSP00000329668 SHC4 630 SHC-transforming protein 4; Activates both Ras-dependent and Ras-independent migratory pathways in melanomas. Contributes to the early phases of agrin-induced tyrosine phosphorylation of CHRNB1; SH2 domain containing 9606.ENSP00000329684 GALR2 387 Galanin receptor type 2; Receptor for the hormone galanin and GALP. Receptor for the hormone spexin-1. The activity of this receptor is mediated by G proteins that activate the phospholipase C/protein kinase C pathway (via G(q)) and that inhibit adenylyl cyclase (via G(i)) 9606.ENSP00000329689 OR10G7 311 Olfactory receptor 10G7; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000329697 PPAP2C 309 Phospholipid phosphatase 2; Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1- phosphate (S-1-P). The relative catalytic efficiency is PA > C-1-P > LPA > S-1-P; Belongs to the PA-phosphatase related phosphoesterase family 9606.ENSP00000329715 DRG1 367 Developmentally-regulated GTP-binding protein 1; Critical regulator of cell growth under specific conditions. Implicated in differentiation and cell cycle arrest 9606.ENSP00000329735 FAM212A 287 PAK4-inhibitor INKA1; Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity 9606.ENSP00000329748 CPNE8 564 Copine-8; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes; Copines 9606.ENSP00000329757 ATP6V0C 155 V-type proton ATPase 16 kDa proteolipid subunit; Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; V-type ATPases 9606.ENSP00000329793 ZNF85 595 Zinc finger protein 85; May be a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000329794 TCEAL7 100 Transcription elongation factor A protein-like 7; Plays a role in the negative regulation of NF-kappa-B signaling at the basal level by modulating transcriptional activity of NF-kappa-B on its target gene promoters. Associates with cyclin D1 promoter containing Myc E-box sequence and transcriptionally represses cyclin D1 expression. Regulates telomerase reverse transcriptase expression and telomerase activity in both ALT (alternative lengthening of telomeres)and telomerase-positive cell lines; Transcription elongation factor A like family 9606.ENSP00000329795 TMEM105 129 Transmembrane protein 105 9606.ENSP00000329797 CADM1 471 Cell adhesion molecule 1; Mediates homophilic cell-cell adhesion in a Ca(2+)- independent manner. Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner. Acts as a tumor suppressor in non-small-cell lung cancer (NSCLC) cells. Interaction with CRTAM promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo. May contribute to the less invasive phenotypes of lepidic growth tumor cells. In mast cells, may mediate attach [...] 9606.ENSP00000329803 ZAR1 424 Zygote arrest protein 1; Essential for female fertility. May play a role in the oocyte-to-embryo transition (By similarity); Zinc fingers 3CxxC-type 9606.ENSP00000329825 SPATA31A6 1343 Spermatogenesis-associated protein 31A6; May play a role in spermatogenesis 9606.ENSP00000329858 TRMT12 448 tRNA wybutosine-synthesizing protein 2 homolog; S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha- carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86; Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM5/TYW2 family 9606.ENSP00000329860 CCDC172 258 Coiled-coil domain containing 172 9606.ENSP00000329880 PHACTR1 580 Phosphatase and actin regulator 1; Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by endothelial cells. Regulates PPP1CA activity. Required for normal cell survival 9606.ENSP00000329890 DEFA5 94 Defensin-5; Has antimicrobial activity against Gram-negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. All DEFA5 peptides exert antimicrobial activities, but their potency is affected by peptide processing; Defensins, alpha 9606.ENSP00000329904 IQCF2 164 IQ motif containing F2 9606.ENSP00000329915 PSMG1 288 Proteasome assembly chaperone 1; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG2. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization 9606.ENSP00000329918 MEX3B 569 RNA-binding protein MEX3B; RNA-binding protein. May be involved in post- transcriptional regulatory mechanisms; Ring finger proteins 9606.ENSP00000329920 MCEMP1 187 Mast cell expressed membrane protein 1 9606.ENSP00000329926 CALHM1 346 Calcium homeostasis modulator protein 1; Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and for [...] 9606.ENSP00000329932 LGALS9C 356 Galectin-9C; Binds galactosides; Galectins 9606.ENSP00000329933 PHF12 1004 PHD finger protein 12; Acts as a transcriptional repressor. Involved in recruitment of functional SIN3A complexes to DNA. Represses transcription at least in part through the activity of an associated histone deacetylase (HDAC). May also repress transcription in a SIN3A-independent manner through recruitment of functional AES complexes to DNA 9606.ENSP00000329943 LRRC36 754 Leucine-rich repeat-containing protein 36; Leucine rich repeat containing 36 9606.ENSP00000329967 TBK1 729 Serine/threonine-protein kinase TBK1; Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB. In order to establish such an antiviral state, TBK1 form s [...] 9606.ENSP00000329982 OR4F16 312 Olfactory receptor, family 4, subfamily F, member 16; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000329991 IFNL1 200 Interferon lambda-1; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN- stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type- s [...] 9606.ENSP00000329995 FAM186A 2351 Protein FAM186A; Family with sequence similarity 186 member A; Belongs to the FAM186 family 9606.ENSP00000330031 PIWIL3 882 Piwi-like protein 3; May play a role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequen [...] 9606.ENSP00000330032 UPP1 310 Uridine phosphorylase 1; Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1- phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis; Belongs to the PNP/UDP phosphorylase family 9606.ENSP00000330049 OR4Q3 313 Olfactory receptor 4Q3; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000330051 MFSD6L 586 Major facilitator superfamily domain containing 6 like 9606.ENSP00000330070 NPW 165 Neuropeptide W; Plays a regulatory role in the organization of neuroendocrine signals accessing the anterior pituitary gland. Stimulates water drinking and food intake. May play a role in the hypothalamic response to stress (By similarity). NPW23 activates GPR7 and GPR8 more efficiently than NPW30; Endogenous ligands 9606.ENSP00000330074 HIST1H1B 226 Histone H1.5; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity) 9606.ENSP00000330075 OGFOD3 331 2-oxoglutarate and iron dependent oxygenase domain containing 3; Belongs to the OGFOD3 family 9606.ENSP00000330098 FBXL6 539 F-box/LRR-repeat protein 6; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and leucine rich repeat proteins 9606.ENSP00000330101 KRT76 638 Keratin, type II cytoskeletal 2 oral; Probably contributes to terminal cornification; Keratins, type II 9606.ENSP00000330148 GRID1 1009 Glutamate receptor ionotropic, delta-1; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRID1 subfamily 9606.ENSP00000330188 RSRC2 434 Arginine and serine rich coiled-coil 2; Belongs to the RSRC2 family 9606.ENSP00000330199 SLC6A17 727 Sodium-dependent neutral amino acid transporter SLC6A17; Functions as a sodium-dependent vesicular transporter selective for proline, glycine, leucine and alanine. In contrast to other members of this neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity); Solute carriers 9606.ENSP00000330200 BTNL9 535 Butyrophilin-like protein 9; V-set domain containing; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000330218 SOX1 391 Transcription factor SOX-1; Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity); SRY-boxes 9606.ENSP00000330221 SPSB1 273 SPRY domain-containing SOCS box protein 1; Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the SPSB family 9606.ENSP00000330237 CASP9 416 Caspase-9; Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf- 1 leads to activation of the protease which then cleaves and activates caspase-3. Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP- ribose) polymerase (PARP); Apoptosome 9606.ENSP00000330240 CCDC34 373 Coiled-coil domain containing 34 9606.ENSP00000330247 NT5DC4 428 5'-nucleotidase domain containing 4; Belongs to the 5'(3')-deoxyribonucleotidase family 9606.ENSP00000330264 TMPRSS9 1059 Transmembrane protease serine 9; Serase-1 and serase-2 are serine proteases that hydrolyze the peptides N-t-Boc-Gln-Ala-Arg-AMC and N-t-Boc-Gln- Gly-Arg-AMC. In contrast, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Ala- Pro-Ala-AMC are not significantly hydrolyzed; Belongs to the peptidase S1 family 9606.ENSP00000330267 C15orf32 178 Uncharacterized protein C15orf32; Chromosome 15 open reading frame 32 9606.ENSP00000330269 RESP18 228 Regulated endocrine-specific protein 18; May play an important regulatory role in corticotrophs; Belongs to the RESP18 family 9606.ENSP00000330278 PLEKHH1 1364 Pleckstrin homology, MyTH4 and FERM domain containing H1 9606.ENSP00000330280 OR8B8 311 Olfactory receptor 8B8; Odorant receptor (Potential). May be involved in taste perception; Olfactory receptors, family 8 9606.ENSP00000330284 NPBWR1 328 Neuropeptides B/W receptor type 1; Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals. Has a higher affinity for neuropeptide B 9606.ENSP00000330289 TRAPPC6B 158 Trafficking protein particle complex subunit 6B; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Trafficking protein particle complex 9606.ENSP00000330338 OR52L1 329 Olfactory receptor 52L1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000330341 SOCS3 225 Suppressor of cytokine signaling 3; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS3 is involved in negative regulation of cytokines that signal through the JAK/STAT pathway. Inhibits cytokine signal transduction by binding to tyrosine kinase receptors including gp130, LIF, erythropoietin, insulin, IL12, GCSF and leptin receptors. Binding to JAK2 inhibits its kinase activity. Suppresses fetal liver erythropoiesis. Regulates onset and maintenance of allergic responses mediated by T-helper type 2 cells. Regulates IL [...] 9606.ENSP00000330361 C8orf33 229 UPF0488 protein C8orf33; Chromosome 8 open reading frame 33; Belongs to the UPF0488 family 9606.ENSP00000330381 WDR5B 330 WD repeat-containing protein 5B; May function as a substrate receptor for CUL4-DDB1 ubiquitin E3 ligase complex; WD repeat domain containing 9606.ENSP00000330382 PDGFB 241 Platelet-derived growth factor subunit B; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers wit [...] 9606.ENSP00000330384 OR6A2 327 Olfactory receptor 6A2; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000330389 PTRHD1 140 peptidyl-tRNA hydrolase domain containing 1 9606.ENSP00000330391 SPRR3 169 Small proline-rich protein 3; Cross-linked envelope protein of keratinocytes; Small proline rich proteins 9606.ENSP00000330393 LEPR 1165 Leptin receptor; Receptor for hormone LEP/leptin (Probable). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones (By similarity). In the periphery, increases basal metabolism, influences [...] 9606.ENSP00000330426 C1QTNF8 252 Complement C1q tumor necrosis factor-related protein 8; C1q and TNF related 8 9606.ENSP00000330432 FAM83F 500 Protein FAM83F; Family with sequence similarity 83 member F 9606.ENSP00000330433 TM2D3 247 TM2 domain containing 3 9606.ENSP00000330442 PLB1 1458 Phospholipase B1, membrane-associated; Membrane-associated phospholipase. Exhibits a calcium- independent broad substrate specificity including phospholipase A2/lysophospholipase activity. Preferential hydrolysis at the sn-2 position of diacylphospholipids and diacyglycerol, whereas it shows no positional specificity toward triacylglycerol. Exhibits also esterase activity toward p-nitrophenyl. May act on the brush border membrane to facilitate the absorption of digested lipids (By similarity); Phospholipases 9606.ENSP00000330460 DDX59 619 Probable ATP-dependent RNA helicase DDX59; Zinc fingers HIT-type; Belongs to the DEAD box helicase family. DDX59 subfamily 9606.ENSP00000330475 TMPRSS11B 416 Transmembrane protease serine 11B; Serine protease 9606.ENSP00000330484 AMY1B 511 Amylase, alpha 1B 9606.ENSP00000330485 ZDHHC23 409 Palmitoyltransferase ZDHHC23; Palmitoyltransferase that mediates palmitoylation of KCNMA1, regulating localization of KCNMA1 to the plasma membrane. May be involved in NOS1 regulation and targeting to the synaptic membrane; Zinc fingers DHHC-type 9606.ENSP00000330488 CXorf38 319 Uncharacterized protein CXorf38; Chromosome X open reading frame 38 9606.ENSP00000330509 DEXI 95 Dexamethasone-induced protein; Dexi homolog; Belongs to the DEXI family 9606.ENSP00000330523 CTHRC1 243 Collagen triple helix repeat-containing protein 1; May act as a negative regulator of collagen matrix deposition 9606.ENSP00000330572 MAPK8IP2 824 C-Jun-amino-terminal kinase-interacting protein 2; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. JIP2 inhibits IL1 beta-induced apoptosis in insulin-secreting cells. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity) 9606.ENSP00000330587 MT1H 61 Metallothionein-1H; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family 9606.ENSP00000330601 HHIPL1 782 HHIP-like protein 1; Scavenger receptor cysteine rich domain containing 9606.ENSP00000330606 HS3ST4 456 Heparan sulfate glucosamine 3-O-sulfotransferase 4; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N- unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Unlike 3-OST-1, does not convert non- anticoagulant heparan sulfate to anticoagulant heparan sulfate (By similarity) 9606.ENSP00000330612 MRGPRG 289 Mas-related G-protein coupled receptor member G; Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain (By similarity); G protein-coupled receptors, Class A orphans 9606.ENSP00000330631 RTN4RL1 441 Reticulon-4 receptor-like 1; Cell surface receptor. Plays a functionally redundant role in postnatal brain development and in regulating axon regeneration in the adult central nervous system. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG. Plays a role in inhibiting neurite outgrowth and axon regeneration via its binding to neuronal chondroitin sulfate proteoglycans. Binds heparin (By similarity). Like other family members, plays a [...] 9606.ENSP00000330633 CNTN2 1040 Contactin-2; In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion; Fibronectin type III domain containing 9606.ENSP00000330658 PAPPA 1627 Pappalysin-1; Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly inhibited by the presence of IGF; Belongs to the peptidase M43B family 9606.ENSP00000330694 NDNL2 304 Non-structural maintenance of chromosomes element 3 homolog; Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML b [...] 9606.ENSP00000330696 P2RX7 595 P2X purinoceptor 7; Receptor for ATP that acts as a ligand-gated ion channel. Responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Could function in both fast synaptic transmission and the ATP-mediated lysis of antigen-presenting cells. In the absence of its natural ligand, ATP, functions as a scavenger receptor in the recognition and engulfment of apoptotic cells; Purinergic receptors P2X 9606.ENSP00000330720 KRTAP11-1 163 Keratin-associated protein 11-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000330730 COA5 74 Cytochrome c oxidase assembly factor 5; Involved in an early step of the mitochondrial complex IV assembly process 9606.ENSP00000330737 NDUFA12 145 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000330746 KRTAP20-2 65 Keratin-associated protein 20-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000330753 BRWD1 2320 Bromodomain and WD repeat-containing protein 1; May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape; Bromodomain containing 9606.ENSP00000330787 NDUFB1 105 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000330808 OTOL1 477 Otolin-1; C1q and TNF related ; Belongs to the OTOL1 family 9606.ENSP00000330838 ZNF775 537 Zinc finger protein 775; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000330842 RGPD6 1765 RANBP2-like and GRIP domain-containing protein 5/6; Tetratricopeptide repeat domain containing 9606.ENSP00000330862 OPCML 345 Opioid-binding protein/cell adhesion molecule; Binds opioids in the presence of acidic lipids; probably involved in cell contact; Belongs to the immunoglobulin superfamily. IgLON family 9606.ENSP00000330875 FANCF 374 Fanconi anemia group F protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity); Fanconi anemia complementation groups 9606.ENSP00000330878 KPNA7 516 Importin subunit alpha-8; Functions in nuclear protein import; Belongs to the importin alpha family 9606.ENSP00000330898 ENSG00000267645 115 DNA-directed RNA polymerase II subunit RPB11-b1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity) 9606.ENSP00000330904 OR2T34 318 Olfactory receptor 2T34; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000330918 PGP 321 Glycerol-3-phosphate phosphatase; Glycerol-3-phosphate phosphatase hydrolyzing glycerol-3- phosphate into glycerol. Thereby, regulates the cellular levels of glycerol-3-phosphate a metabolic intermediate of glucose, lipid and energy metabolism. Was also shown to have a 2-phosphoglycolate phosphatase activity and a tyrosine-protein phosphatase activity. However, their physiological relevance is unclear. In vitro, has also a phosphatase activity toward ADP, ATP, GDP and GTP (By similarity) 9606.ENSP00000330945 TMED9 235 Transmembrane emp24 domain-containing protein 9; Appears to be involved in vesicular protein trafficking, mainly in the early secretory pathway. In COPI vesicle-mediated retrograde transport involved in the coatomer recruitment to membranes of the early secretory pathway. Increases coatomer- dependent activity of ARFGAP2. Thought to play a crucial role in the specific retention of p24 complexes in cis-Golgi membranes; specifically contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network. May be involved in organization of intracellular membranes, such as of [...] 9606.ENSP00000330959 IL1R2 398 Interleukin-1 receptor type 2; Non-signaling receptor for IL1A, IL1B and IL1RN. Reduces IL1B activities. Serves as a decoy receptor by competetive binding to IL1B and preventing its binding to IL1R1. Also modulates cellular response through non-signaling association with IL1RAP after binding to IL1B. IL1R2 (membrane and secreted forms) preferentially binds IL1B and poorly IL1A and IL1RN. The secreted IL1R2 recruits secreted IL1RAP with high affinity; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors; CD molecules 9606.ENSP00000331012 C10orf120 335 Uncharacterized protein C10orf120; Chromosome 10 open reading frame 120 9606.ENSP00000331019 RPS27L 84 Ribosomal protein S27 like; Belongs to the eukaryotic ribosomal protein eS27 family 9606.ENSP00000331040 OLIG2 323 Oligodendrocyte transcription factor 2; Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Cooperates with OLIG1 to establish the pMN domain of the embryonic neural tube. Antagonist of V2 interneuron and of NKX2-2-induced V3 interneuron development (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000331044 ENKUR 256 Enkurin; Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel; Cilia and flagella associated 9606.ENSP00000331062 VSTM4 320 V-set and transmembrane domain-containing protein 4; Peptide Lv enhances L-type voltage-gated calcium channel (L-VGCC) currents in retinal photoreceptors; V-set domain containing 9606.ENSP00000331065 PPP1R27 154 Protein phosphatase 1 regulatory subunit 27; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes; Ankyrin repeat domain containing 9606.ENSP00000331086 ODF4 257 Outer dense fiber protein 4; Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton 9606.ENSP00000331087 TSSC4 329 Protein TSSC4; Tumor suppressing subtransferable candidate 4 9606.ENSP00000331103 IP6K2 426 Inositol hexakisphosphate kinase 2; Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4; Belongs to the inositol phosphokinase (IPK) family 9606.ENSP00000331106 PEX26 305 Peroxisome assembly protein 26; Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence; Peroxins 9606.ENSP00000331111 ZNRD1 126 DNA-directed RNA polymerase I subunit RPA12; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors 9606.ENSP00000331127 BOLA2 152 BolA-like protein 2; Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins. Acts together with the monothiol glutaredoxin GLRX3; Belongs to the BolA/IbaG family 9606.ENSP00000331152 MXI1 295 Max-interacting protein 1; Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX; Basic helix-loop-helix proteins 9606.ENSP00000331167 LMNTD2 634 Lamin tail domain containing 2 9606.ENSP00000331172 CD8B 243 T-cell surface glycoprotein CD8 beta chain; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Src [...] 9606.ENSP00000331201 HGS 777 Hepatocyte growth factor-regulated tyrosine kinase substrate; Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down- regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (E [...] 9606.ENSP00000331209 C11orf54 315 Ester hydrolase C11orf54; Exhibits ester hydrolase activity on the substrate p- nitrophenyl acetate 9606.ENSP00000331210 BCAN 911 Brevican core protein; May play a role in the terminally differentiating and the adult nervous system during postnatal development. Could stabilize interactions between hyaluronan (HA) and brain proteoglycans; C-type lectin domain containing 9606.ENSP00000331211 RBM43 357 RNA-binding protein 43; RNA binding motif containing 9606.ENSP00000331214 SMIM23 156 Small integral membrane protein 23 9606.ENSP00000331242 KREMEN1 492 Kremen protein 1; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate [...] 9606.ENSP00000331258 POMK 350 Protein O-mannose kinase; Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N- acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only [...] 9606.ENSP00000331268 ANKRD45 266 Ankyrin repeat domain-containing protein 45; Ankyrin repeat domain containing 9606.ENSP00000331288 TMEM173 379 Stimulator of interferon genes protein; Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta). Innate immune response is triggered in response to non-CpG double- stranded DNA from viruses and bacteria delivered to the cytoplasm. Acts by recognizing and binding cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced in response to DNA virus in the cytosol: upon binding of c-di-GMP or cGAMP, autoinhibition [...] 9606.ENSP00000331298 UBALD2 164 UBA-like domain-containing protein 2; UBA like domain containing 2; Belongs to the UBALD family 9606.ENSP00000331302 TCEB3B 753 Elongin-A2; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A2 is transcriptionally active but its transcription activity is not enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) 9606.ENSP00000331305 TOB2 344 Protein Tob2; Anti-proliferative protein inhibits cell cycle progression from the G0/G1 to S phases; Belongs to the BTG family 9606.ENSP00000331310 MORF4L1 362 Mortality factor 4-like protein 1; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and repl [...] 9606.ENSP00000331313 GNB1L 327 G protein subunit beta 1 like; WD repeat domain containing 9606.ENSP00000331327 WT1 517 Wilms tumor protein; Transcription factor that plays an important role in cellular development and cell survival. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors. Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has [...] 9606.ENSP00000331342 RAB11FIP1 1283 Rab11 family-interacting protein 1; A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis; C2 domain containing 9606.ENSP00000331358 GAST 101 Gastrin; Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine; Endogenous ligands 9606.ENSP00000331369 BOLA3 107 BolA-like protein 3; Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1; Belongs to the BolA/IbaG family 9606.ENSP00000331376 SERHL2 314 Serine hydrolase-like protein 2; Probable serine hydrolase. May be related to cell muscle hypertrophy 9606.ENSP00000331385 KIAA0825 324 Uncharacterized protein KIAA0825; Armadillo-like helical domain containing 9606.ENSP00000331397 FAM43B 329 Protein FAM43B; Family with sequence similarity 43 member B; Belongs to the FAM43 family 9606.ENSP00000331411 FBLN7 439 Fibulin-7; An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation; Fibulins 9606.ENSP00000331435 MBD3L5 208 methyl-CpG binding domain protein 3 like 5 9606.ENSP00000331462 ZNF704 412 Zinc finger protein 704 9606.ENSP00000331465 ZNF84 738 Zinc finger protein 84; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000331466 TMEM95 184 Transmembrane protein 95 9606.ENSP00000331470 DBX2 339 Homeobox protein DBX2; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000331474 SYNDIG1L 238 Synapse differentiation-inducing gene protein 1-like; Interferon induced transmembrane protein domain containing 9606.ENSP00000331479 CYB5D1 228 Cytochrome b5 domain containing 1 9606.ENSP00000331487 NPLOC4 608 Nuclear protein localization protein 4 homolog; The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination [...] 9606.ENSP00000331500 TEX19 164 Testis-expressed protein 19; Required during spermatogenesis and placenta development, participating in the repression of retrotransposable elements and prevent their mobilization. Collaborates with the Piwi-interacting RNA (piRNA) pathway, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins. Interacts with Piwi proteins and directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence element [...] 9606.ENSP00000331504 FES 822 Tyrosine-protein kinase Fes/Fps; Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Acts down- stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF [...] 9606.ENSP00000331532 SPATA32 384 Spermatogenesis-associated protein 32; Spermatogenesis associated 32 9606.ENSP00000331544 FBLN1 703 Fibulin-1; Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a signi [...] 9606.ENSP00000331545 OR1G1 313 Olfactory receptor 1G1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000331556 CYLC1 651 Cylicin-1; Possible architectural role during spermatogenesis. May be involved in spermatid differentiation 9606.ENSP00000331572 OR56A3 315 Olfactory receptor 56A3; Odorant receptor; Olfactory receptors, family 56 9606.ENSP00000331577 ZNF397 534 Zinc finger protein 397; Isoform 3 acts as a DNA-dependent transcriptional repressor; SCAN domain containing 9606.ENSP00000331581 C11orf87 197 Uncharacterized protein C11orf87; Chromosome 11 open reading frame 87 9606.ENSP00000331600 GPR173 373 Probable G-protein coupled receptor 173; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000331608 IRX3 501 Iroquois-class homeodomain protein IRX-3; Transcription factor. Involved in SHH-dependent neural patterning. Together with NKX2-2 and NKX6-1 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class I proteins of neuronal progenitor factors, which are repressed by SHH signals. Involved in the transcriptional repression of MNX1 in non-motor neuron cells (By similarity); TALE class homeoboxes and pseudogenes 9606.ENSP00000331614 IKZF1 519 DNA-binding protein Ikaros; Transcription regulator of hematopoietic cell differentiation. Binds gamma-satellite DNA. Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta- globin locus [...] 9606.ENSP00000331626 ZKSCAN2 967 Zinc finger protein with KRAB and SCAN domains 2; May be involved in transcriptional regulation; Myb/SANT domain containing 9606.ENSP00000331636 CAPN12 719 Calpain-12; Calcium-regulated non-lysosomal thiol-protease; Calpains 9606.ENSP00000331640 TMEM186 213 Transmembrane protein 186 9606.ENSP00000331643 PGBD2 592 piggyBac transposable element derived 2; DNA transposon derived genes 9606.ENSP00000331662 ARMCX2 632 Armadillo repeat-containing X-linked protein 2; May regulate the dynamics and distribution of mitochondria in neural cells; Armadillo repeat containing 9606.ENSP00000331678 PKP3 797 Plakophilin-3; May play a role in junctional plaques; Armadillo repeat containing 9606.ENSP00000331681 ENSG00000183628 220 DiGeorge syndrome critical region gene 6; May play a role in neural crest cell migration into the third and fourth pharyngeal pouches; Belongs to the gonadal family 9606.ENSP00000331682 KLHL22 634 Kelch-like protein 22; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. Monoubiquitination of PLK1 does not lead to PLK1 degradation; BTB domain containing 9606.ENSP00000331691 C12orf60 245 Uncharacterized protein C12orf60; Chromosome 12 open reading frame 60 9606.ENSP00000331698 KCNJ15 375 ATP-sensitive inward rectifier potassium channel 15; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ15 subfamily 9606.ENSP00000331704 XKR3 459 XK-related protein 3; XK related family; Belongs to the XK family 9606.ENSP00000331720 C16orf72 275 UPF0472 protein C16orf72; Chromosome 16 open reading frame 72 9606.ENSP00000331727 KCNH7 1196 Potassium voltage-gated channel subfamily H member 7; Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.3/KCNH7 sub-subfamily 9606.ENSP00000331734 RIPPLY3 190 Protein ripply3; Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity); Belongs to the ripply family 9606.ENSP00000331736 SELE 610 E-selectin; Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with PSGL1/SELPLG. May have a role in capillary morphogenesis; Belongs to the selectin/LECAM family 9606.ENSP00000331741 HOXB2 356 Homeobox protein Hox-B2; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family. Proboscipedia subfamily 9606.ENSP00000331745 GDF3 364 Growth/differentiation factor 3; Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor TDGF1/Cripto (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and TDGF1/Cripto; Belongs to the TGF-beta family 9606.ENSP00000331746 CALCA 141 Calcitonin; Calcitonin causes a rapid but short-lived drop in the level of calcium and phosphate in blood by promoting the incorporation of those ions in the bones; Endogenous ligands 9606.ENSP00000331748 RAB12 244 Ras-related protein Rab-12; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By simi [...] 9606.ENSP00000331774 OR2T29 315 Olfactory receptor 2T29; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000331789 OR10J3 329 Olfactory receptor 10J3; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000331791 TBX1 495 T-box transcription factor TBX1; Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity); T-boxes 9606.ENSP00000331823 OR5P2 322 Olfactory receptor 5P2; Odorant receptor (Potential). May be involved in taste perception; Olfactory receptors, family 5 9606.ENSP00000331831 GAS6 678 Growth arrest-specific protein 6; Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses; Gla domain containing 9606.ENSP00000331843 NPIPA1 350 Nuclear pore complex interacting protein family member A1 9606.ENSP00000331845 PRR14L 2151 Protein PRR14L; Proline rich 14 like 9606.ENSP00000331849 MRPL54 138 Mitochondrial ribosomal protein L54 9606.ENSP00000331857 NLRP9 991 NACHT, LRR and PYD domains-containing protein 9; As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell [...] 9606.ENSP00000331867 TAS1R1 841 Taste receptor type 1 member 1; Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses 9606.ENSP00000331879 PRMT3 531 Protein arginine N-methyltransferase 3; Methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in some proteins; Protein arginine methyltransferases 9606.ENSP00000331897 IDH2 452 Isocitrate dehydrogenase [NADP], mitochondrial; Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex; Belongs to the isocitrate and isopropylmalate dehydrogenases family 9606.ENSP00000331901 EEF1G 437 Elongation factor 1-gamma; Probably plays a role in anchoring the complex to other cellular components 9606.ENSP00000331902 COL4A5 1691 Collagen alpha-5(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen; Collagens 9606.ENSP00000331907 DHX34 1143 Probable ATP-dependent RNA helicase DHX34; Probable ATP-binding RNA helicase; DEAH-box helicases 9606.ENSP00000331915 FAM101B 144 Refilin-B; Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements 9606.ENSP00000331927 ZNF789 425 Zinc finger protein 789; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000331933 WSCD2 565 WSC domain containing 2; Belongs to the WSCD family 9606.ENSP00000331944 AEN 325 Apoptosis-enhancing nuclease; Exonuclease with activity against single- and double- stranded DNA and RNA. Mediates p53-induced apoptosis. When induced by p53 following DNA damage, digests double-stranded DNA to form single-stranded DNA and amplifies DNA damage signals, leading to enhancement of apoptosis; Exonucleases 9606.ENSP00000331965 TLCD2 264 TLC domain containing 2 9606.ENSP00000331983 LRRC16A 1371 F-actin-uncapping protein LRRC16A; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization, however, seems unable to nucleate filaments. Plays a role in lamellipodial protrusion formations and cell migration; Belongs to the CARMIL family 9606.ENSP00000332013 ZGPAT 531 Zinc finger CCCH-type with G patch domain-containing protein; Transcription repressor that specifically binds the 5'- GGAG[GA]A[GA]A-3' consensus sequence. Represses transcription by recruiting the chromatin multiprotein complex NuRD to target promoters. Negatively regulates expression of EGFR, a gene involved in cell proliferation, survival and migration. Its ability to repress genes of the EGFR pathway suggest it may act as a tumor suppressor. Able to suppress breast carcinogenesis; G-patch domain containing 9606.ENSP00000332034 PROSER1 944 Proline and serine rich 1 9606.ENSP00000332049 CD86 329 T-lymphocyte activation antigen CD86; Receptor involved in the costimulatory signal essential for T-lymphocyte proliferation and interleukin-2 production, by binding CD28 or CTLA-4. May play a critical role in the early events of T-cell activation and costimulation of naive T-cells, such as deciding between immunity and anergy that is made by T- cells within 24 hours after activation. Isoform 2 interferes with the formation of CD86 clusters, and thus acts as a negative regulator of T-cell activation 9606.ENSP00000332062 SNX20 316 Sorting nexin-20; May play a role in cellular vesicle trafficking. Has been proposed to function as a sorting protein that targets SELPLG into endosomes, but has no effect on SELPLG internalization from the cell surface, or on SELPLG-mediated cell-cell adhesion 9606.ENSP00000332068 OR5P3 311 Olfactory receptor 5P3; Odorant receptor (Potential). May be involved in taste perception; Olfactory receptors, family 5 9606.ENSP00000332103 NAA38 173 N-alpha-acetyltransferase 38, NatC auxiliary subunit; Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues; LSm proteins 9606.ENSP00000332110 OR4N5 308 Olfactory receptor 4N5; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000332111 EFCAB13 973 EF-hand calcium-binding domain-containing protein 13; EF-hand calcium binding domain 13 9606.ENSP00000332116 PDE4B 736 cAMP-specific 3',5'-cyclic phosphodiesterase 4B; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in mediating central nervous system effects of therapeutic agents ranging from antidepressants to antiasthmatic and anti-inflammatory agents; Phosphodiesterases 9606.ENSP00000332118 EPHB3 998 Ephrin type-B receptor 3; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and [...] 9606.ENSP00000332134 PRAMEF1 474 PRAME family member 1; Belongs to the PRAME family 9606.ENSP00000332139 CFD 253 Complement factor D; Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway; Belongs to the peptidase S1 family 9606.ENSP00000332148 DZIP1L 767 Zinc finger protein DZIP1L; Involved in primary cilium formation. Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane; Belongs to the DZIP C2H2-type zinc-finger protein family 9606.ENSP00000332151 DSE 958 Dermatan-sulfate epimerase; Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues 9606.ENSP00000332162 C1orf64 169 Steroid receptor-associated and regulated protein; May regulate the transcriptional function of androgen and estrogen receptors 9606.ENSP00000332163 SPRR4 79 Small proline-rich protein 4; Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification; Belongs to the cornifin (SPRR) family 9606.ENSP00000332164 SLIT3 1530 Slit homolog 3 protein; May act as molecular guidance cue in cellular migration, and function may be mediated by interaction with roundabout homolog receptors 9606.ENSP00000332185 OR2V2 315 Olfactory receptor 2V2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000332194 HIST2H2AC 129 Histone H2A type 2-C; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000332198 NOP10 64 H/ACA ribonucleoprotein complex subunit 3; Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse tran [...] 9606.ENSP00000332208 RFX6 928 DNA-binding protein RFX6; Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin. Not required for pancreatic PP (polypeptide- producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by [...] 9606.ENSP00000332215 PSG3 428 Pregnancy specific beta-1-glycoprotein 3; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000332225 PMCH 165 Pro-MCH; MCH may act as a neurotransmitter or neuromodulator in a broad array of neuronal functions directed toward the regulation of goal-directed behavior, such as food intake, and general arousal. May also have a role in spermatocyte differentiation; Belongs to the melanin-concentrating hormone family 9606.ENSP00000332247 ATP6V0A2 856 V-type proton ATPase 116 kDa subunit a isoform 2; Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation; Belongs to the V-ATPase 116 kDa subunit family 9606.ENSP00000332256 ALDH1A3 512 Aldehyde dehydrogenase family 1 member A3; NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid. Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde. Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity) 9606.ENSP00000332274 PTP4A3 173 Protein tyrosine phosphatase type IVA 3; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilization in response to angiotensin II; Protein tyrosine phosphatases type IVA 9606.ENSP00000332287 SYNGR1 233 Synaptogyrin-1; May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the regulation of short-term and long-term synaptic plasticity (By similarity); Belongs to the synaptogyrin family 9606.ENSP00000332288 TRIM61 209 Putative tripartite motif-containing protein 61; Tripartite motif containing 61; Ring finger proteins 9606.ENSP00000332293 ASCL2 193 Achaete-scute homolog 2; AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system; Basic helix-loop-helix proteins 9606.ENSP00000332296 RARB 448 Retinoic acid receptor beta; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. In concert with RARG, required for skeletal growth, matrix homeostas [...] 9606.ENSP00000332325 ZNF703 590 Zinc finger protein 703; Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development; Belongs to the Elbow/Noc family 9606.ENSP00000332340 DDX28 540 Probable ATP-dependent RNA helicase DDX28; Plays an essential role in facilitating the proper assembly of the mitochondrial large ribosomal subunit and its helicase activity is essential for this function. May be involved in RNA processing or transport. Has RNA and Mg(2+)-dependent ATPase activity; DEAD-box helicases 9606.ENSP00000332353 PTCH1 1447 Protein patched homolog 1; Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis; Belongs to the patched family 9606.ENSP00000332369 ALAS2 587 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5'-aminolevulinate synthase 2 9606.ENSP00000332371 COL7A1 2944 Collagen alpha-1(VII) chain; Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen; Collagens 9606.ENSP00000332389 BRICD5 228 BRICHOS domain containing 5 9606.ENSP00000332404 TMIGD1 262 Transmembrane and immunoglobulin domain-containing protein 1; May control cell-cell adhesion, cell migration and proliferation, cell morphology, and protects renal epithelial cells from oxidative cell injury to promote cell survival; I-set domain containing 9606.ENSP00000332407 SDR42E1 393 Short chain dehydrogenase/reductase family 42E, member 1 9606.ENSP00000332413 BEST3 668 Bestrophin-3; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Belongs to the bestrophin family 9606.ENSP00000332433 ZSCAN22 491 Zinc finger and SCAN domain-containing protein 22; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000332444 CSTF2T 616 Cleavage stimulation factor subunit 2 tau variant; May play a significant role in AAUAAA-independent mRNA polyadenylation in germ cells. Directly involved in the binding to pre-mRNAs (By similarity); Cleavage stimulation factor subunits 9606.ENSP00000332448 ADAT3 367 Probable inactive tRNA-specific adenosine deaminase-like protein 3; Adenosine deaminase, tRNA specific 3; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT3 subfamily 9606.ENSP00000332449 CRIP1 77 Cysteine-rich protein 1; Seems to have a role in zinc absorption and may function as an intracellular zinc transport protein; LIM domain containing 9606.ENSP00000332454 RIPK4 784 Receptor-interacting serine/threonine-protein kinase 4; Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family 9606.ENSP00000332473 OR51J1 316 Olfactory receptor 51J1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000332488 SPPL2C 684 Signal peptide peptidase-like 2C; Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptides in the hydrophobic plane of the membrane 9606.ENSP00000332500 ENSG00000183706 316 Olfactory receptor 4N4; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000332504 CCR10 362 C-C chemokine receptor type 10; Receptor for chemokines SCYA27 and SCYA28. Subsequently transduces a signal by increasing the intracellular calcium ions level and stimulates chemotaxis in a pre-B cell line; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000332511 OLFML1 402 Olfactomedin-like protein 1; Olfactomedin like 1 9606.ENSP00000332513 SH3BGR 239 SH3 domain-binding glutamic acid-rich protein; SH3 domain binding glutamate rich protein; Belongs to the SH3BGR family 9606.ENSP00000332528 OTOP2 562 Otopetrin-2; Otopetrin 2 9606.ENSP00000332530 RNLS 342 Renalase; Catalyzes the oxidation of the less abundant 1,2- dihydro-beta-NAD(P) and 1,6-dihydro-beta-NAD(P) to form beta- NAD(P)(+). The enzyme hormone is secreted by the kidney, and circulates in blood and modulates cardiac function and systemic blood pressure. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its s [...] 9606.ENSP00000332565 SULT4A1 284 Sulfotransferase 4A1; Atypical sulfotransferase family member with very low affinity for 3'-phospho-5'-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p-nitrophenol, 2-naphthylamine, and 2-beta-naphthol. May have a role in the metabolism of drugs and neurotransmitters in the CNS; Sulfotransferases, cytosolic 9606.ENSP00000332576 OSBP2 916 Oxysterol-binding protein 2; Binds 7-ketocholesterol; Oxysterol binding proteins 9606.ENSP00000332591 NPY2R 381 Neuropeptide Y receptor type 2; Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PYY > NPY > PYY (3-36) > NPY (2-36) > [Ile-31, Gln-34] PP > [Leu- 31, Pro-34] NPY > PP, [Pro-34] PYY and NPY free acid 9606.ENSP00000332592 SPAG16 631 Sperm-associated antigen 16 protein; Necessary for sperm flagellar function. Plays a role in motile ciliogenesis. May help to recruit STK36 to the cilium or apical surface of the cell to initiate subsequent steps of construction of the central pair apparatus of motile cilia (By similarity); WD repeat domain containing 9606.ENSP00000332595 ZNF92 586 Zinc finger protein 92; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000332602 CTAG1B 180 Cancer/testis antigen 1B; Belongs to the CTAG/PCC1 family 9606.ENSP00000332604 EIF3C 913 Eukaryotic translation initiation factor 3 subunit C; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000332613 OAF 273 Out at first homolog; Belongs to the OAF family 9606.ENSP00000332643 NDN 321 Necdin; Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle- promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Functions also as transcription factor and binds directly to specific guanosine-rich DNA sequences (By similarity); MAGE family 9606.ENSP00000332646 MFSD10 455 Major facilitator superfamily domain-containing protein 10; Confers cellular resistance to apoptosis induced by the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. May act as an efflux pump 9606.ENSP00000332656 ENPP7 458 Ectonucleotide pyrophosphatase/phosphodiesterase family member 7; Converts sphingomyelin to ceramide. Also has phospholipase C activity toward palmitoyl lyso-phosphocholine. Does not appear to have nucleotide pyrophosphatase activity; Belongs to the nucleotide pyrophosphatase/phosphodiesterase family 9606.ENSP00000332659 CCR4 360 C-C chemokine receptor type 4; High affinity receptor for the C-C type chemokines CCL17/TARC, CCL22/MDC and CKLF isoform 1/CKLF1. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival 9606.ENSP00000332663 FAM65C 946 Family with sequence similarity 65, member C 9606.ENSP00000332674 LRRC8B 803 Volume-regulated anion channel subunit LRRC8B; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition 9606.ENSP00000332679 CYP2A13 494 Cytochrome P450 2A13; Exhibits a coumarin 7-hydroxylase activity. Active in the metabolic activation of hexamethylphosphoramide, N,N- dimethylaniline, 2'-methoxyacetophenone, N- nitrosomethylphenylamine, and the tobacco-specific carcinogen, 4- (methylnitrosamino)-1-(3-pyridyl)-1-butanone. Possesses phenacetin O-deethylation activity; Cytochrome P450 family 2 9606.ENSP00000332681 LRP2BP 347 LRP2-binding protein; May act as an adapter that regulates LRP2 function 9606.ENSP00000332690 KRTAP6-1 71 Keratin-associated protein 6-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000332706 PURA 322 Transcriptional activator protein Pur-alpha; This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination 9606.ENSP00000332723 COLEC10 277 Collectin-10; Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine. Acts as a chemoattractant, probably involved in the regulation of cell migration; Belongs to the COLEC10/COLEC11 family 9606.ENSP00000332737 UNC5A 842 Netrin receptor UNC5A; Receptor for netrin required for axon guidance. Functions in the netrin signaling pathway and promotes neurite outgrowth in response to NTN1. Mediates axon repulsion of neuronal growth cones in the developing nervous system in response to netrin. Axon repulsion in growth cones may be mediated by its association with DCC that may trigger signaling for repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand; I-set domain containing 9606.ENSP00000332744 ALX4 411 Homeobox protein aristaless-like 4; Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development; Belongs to the paired homeobox family 9606.ENSP00000332750 ZKSCAN8 578 Zinc finger protein with KRAB and SCAN domains 8; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000332756 ATP11C 1132 Phospholipid-transporting ATPase IG; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Required for B cell differentiation past the pro-B cell stage. Seems to mediate phosphatidylserine (PS) flipping in pro-B cells. May be involved in the transport of cho [...] 9606.ENSP00000332757 FUT10 479 Alpha-(1,3)-fucosyltransferase 10; Probable fucosyltransferase; Belongs to the glycosyltransferase 10 family 9606.ENSP00000332766 NPB 125 Neuropeptide B; May be involved in the regulation of feeding, neuroendocrine system, memory, learning and in the afferent pain pathway; Endogenous ligands 9606.ENSP00000332771 CLCNKA 687 Chloride channel protein ClC-Ka; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms; Belongs to the chloride channel (TC 2.A.49) family. CLCNKA subfamily 9606.ENSP00000332772 YIPF7 280 Protein YIPF7; Yip1 domain family member 7; Belongs to the YIP1 family 9606.ENSP00000332773 IGDCC3 814 Immunoglobulin superfamily DCC subclass member 3; Fibronectin type III domain containing 9606.ENSP00000332788 ANO9 782 Anoctamin-9; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium- activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1; Anoctamins 9606.ENSP00000332790 HIST2H2AB 130 Histone H2A type 2-B; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000332791 KLHL15 604 Kelch-like protein 15; Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex. Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits. Acts as an adapter for CUL3 to target the DNA- end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through [...] 9606.ENSP00000332805 KRTAP8-1 63 Keratin-associated protein 8-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 8 family 9606.ENSP00000332806 EMILIN3 766 EMILIN-3; Elastin microfibril interfacer 3; EMI domain containing 9606.ENSP00000332809 C2orf71 1288 Uncharacterized protein C2orf71; May play an important role in the development of normal vision 9606.ENSP00000332812 PTGDR2 395 Prostaglandin D2 receptor 2; Receptor for prostaglandin D2 (PGD2). Coupled to the G(i)-protein. Receptor activation may result in pertussis toxin- sensitive decreases in cAMP levels and Ca(2+) mobilization. PI3K signaling is also implicated in mediating PTGDR2 effects. PGD2 induced receptor internalization. CRTH2 internalization can be regulated by diverse kinases such as, PKC, PKA, GRK2, GPRK5/GRK5 and GRK6. Receptor activation is responsible, at least in part, in immune regulation and allergic/inflammation responses; CD molecules 9606.ENSP00000332861 ZNF530 599 Zinc finger protein 530; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000332875 C2orf70 201 UPF0573 protein C2orf70; Chromosome 2 open reading frame 70; Belongs to the UPF0573 family 9606.ENSP00000332879 FLRT2 660 Leucine-rich repeat transmembrane protein FLRT2; Functions in cell-cell adhesion, cell migration and axon guidance. Mediates cell-cell adhesion via its interactions with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. May play a role in the migration of cortical neurons during brain development via its interaction with UNC5D. Mediates axon growth cone collapse and plays a repulsive role in neuron guidance via its interaction with UNC5D, and possibly also other UNC-5 family members. Plays a role in fibroblast growth factor-mediated signal [...] 9606.ENSP00000332886 FREM3 2139 FRAS1-related extracellular matrix protein 3; Extracellular matrix protein which may play a role in cell adhesion 9606.ENSP00000332887 UQCR10 63 Cytochrome b-c1 complex subunit 9; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit interacts with cytochrome c1 (By similarity); Belongs to the UQCR10/QCR9 family 9606.ENSP00000332900 GPR97 549 Adhesion G protein-coupled receptor G3; Orphan receptor that regulates migration of lymphatic endothelial cells in vitro via the small GTPases RhoA and CDC42. Regulates B-cell development (By similarity). Seems to signal through G-alpha(q)-proteins 9606.ENSP00000332915 PARPBP 579 PCNA-interacting partner; Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by interfering with the formation of the RAD51-DNA homologous recombination structure. Binds single-strand DNA and poly(A) homopolymers. Positively regulate the poly(ADP- ribosyl)ation activity of PARP1; however such function may be indirect; Belongs to the PARI family 9606.ENSP00000332963 FOLR4 195 Sperm-egg fusion protein Juno; Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate 9606.ENSP00000332969 TRIM64B 449 Putative tripartite motif-containing protein 64B; Tripartite motif containing 64B; Belongs to the TRIM/RBCC family 9606.ENSP00000332973 SMAD3 425 Mothers against decapentaplegic homolog 3; Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and mi [...] 9606.ENSP00000332979 BACE2 518 Beta-secretase 2; Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C- terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672 9606.ENSP00000332983 WBP2NL 309 Postacrosomal sheath WW domain-binding protein; May play a role in meotic resumption and pronuclear formation, mediated by a WW domain-signaling pathway during fertilization; GRAM domain containing 9606.ENSP00000333003 PRSS55 352 Serine protease 55; Probable serine protease 9606.ENSP00000333012 SS18L1 396 Calcium-responsive transactivator; Transcriptional activator which is required for calcium- dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is depho [...] 9606.ENSP00000333018 TTC32 151 Tetratricopeptide repeat domain containing 9606.ENSP00000333019 ADSSL1 500 Adenylosuccinate synthetase isozyme 1; Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP 9606.ENSP00000333024 PHF7 381 PHD finger protein 7; May play a role in spermatogenesis; PHD finger proteins 9606.ENSP00000333037 ACTRT3 372 Actin related protein T3 9606.ENSP00000333041 C14orf180 177 Nutritionally-regulated adipose and cardiac enriched protein homolog; Chromosome 14 open reading frame 180 9606.ENSP00000333097 FIGLA 219 Factor in the germline alpha; Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E [...] 9606.ENSP00000333142 PLA2G6 806 85/88 kDa calcium-independent phospholipase A2; Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F- actin polymerization at the pseudopods; Anky [...] 9606.ENSP00000333157 GH2 256 Growth hormone 1 isoform 5; Growth hormone family; Endogenous ligands 9606.ENSP00000333181 MARCH11 402 E3 ubiquitin-protein ligase MARCH11; E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids; Membrane associated ring-CH-type fingers 9606.ENSP00000333183 MBD3L3 208 methyl-CpG binding domain protein 3 like 3 9606.ENSP00000333184 OR4F15 312 Olfactory receptor 4F15; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000333188 FOXL2 376 Forkhead box protein L2; Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans- differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic [...] 9606.ENSP00000333196 OR51M1 326 Olfactory receptor 51M1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000333203 SERPINA5 406 Plasma serine protease inhibitor; Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and proinflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting blood coa [...] 9606.ENSP00000333212 CYP2U1 544 Cytochrome P450 2U1; Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes; Cytochrome P450 family 2 9606.ENSP00000333223 ZNF470 717 Zinc finger protein 470; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000333234 DEFB108B 73 Beta-defensin 108B; Has antibacterial activity; Defensins, beta 9606.ENSP00000333255 VMA21 101 Vacuolar ATPase assembly integral membrane protein VMA21; Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum 9606.ENSP00000333262 INPP5J 1006 Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A; Inositol 5-phosphatase, which converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate. Also converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4- phosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate in vitro. May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate- binding proteins that are present at membranes ruffles (By similarity); Phosphoinositide phosphatases 9606.ENSP00000333266 UBA7 1012 Ubiquitin-like modifier-activating enzyme 7; Activates ubiquitin by first adenylating with ATP its C- terminal glycine residue and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin- E1 thioester and free AMP. Catalyzes the ISGylation of influenza A virus NS1 protein; Ubiquitin like modifier activating enzymes 9606.ENSP00000333275 NR2C1 603 Nuclear receptor subfamily 2 group C member 1; Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiatio [...] 9606.ENSP00000333277 HIST2H3D 136 Histone cluster 2 H3 family member d; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000333283 C17orf70 881 Fanconi anemia core complex-associated protein 100; Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed 9606.ENSP00000333292 SPNS2 549 Protein spinster homolog 2; Sphingolipid transporter required for migration of myocardial precursors. Transports sphingosine 1-phosphate (S1P), a secreted lipid mediator that plays critical roles in cardiovascular, immunological, and neural development and function. Mediates the export of S1P from cells in the extraembryonic yolk syncytial layer (YSL), thereby regulating myocardial precursor migration 9606.ENSP00000333298 LAMP1 417 Lysosome-associated membrane glycoprotein 1; Presents carbohydrate ligands to selectins. Also implicated in tumor cell metastasis; CD molecules 9606.ENSP00000333300 HSD17B13 300 17-beta-hydroxysteroid dehydrogenase 13; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000333310 SULT1C3 304 Sulfotransferase 1C3; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor and has low sulphotransferase activity towards various substrates with alcohol groups (in vitro). May catalyze the sulfate conjugation of xenobiotic compounds and endogenous substrates; Sulfotransferases, cytosolic 9606.ENSP00000333326 TUBA8 449 Tubulin alpha-8 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Tubulins 9606.ENSP00000333329 USP17L2 530 Ubiquitin carboxyl-terminal hydrolase 17; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates cell proliferation by deubiquitinating and inhibiting RCE1 thereby controlling the small GTPases NRAS and HRAS localization and activation. In parallel, mediates deubiquitination of CDC25A, preventing CDC25A degradation by the proteasome during the G1/S and G2/M phases promoting cell-cycle progression. Also regulates cell proliferation and apoptosis through deubiquitination of SUDS3 a regulator of histone deacetyl [...] 9606.ENSP00000333350 JRKL 524 Jerky protein homolog-like; Helix-turn-helix CENPB type domain containing; Belongs to the tigger transposable element derived protein family 9606.ENSP00000333358 RNASE10 216 Inactive ribonuclease-like protein 10; Secreted proximal epididymal protein required for post- testicular sperm maturation and male fertility. May be involved in sperm adhesion to the egg zona pellucida. Does not have ribonuclease activity (By similarity) 9606.ENSP00000333363 DNAH8 4707 Dynein heavy chain 8, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity); Dyneins, axonemal 9606.ENSP00000333374 CCDC60 550 Coiled-coil domain containing 60 9606.ENSP00000333376 USP45 814 Ubiquitin specific peptidase 45 9606.ENSP00000333395 ARSI 569 Arylsulfatase I; Displays arylsulfatase activity at neutral pH, when co- expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts; Sulfatases 9606.ENSP00000333401 MRPL40 206 Mitochondrial ribosomal protein L40; Belongs to the mitochondrion-specific ribosomal protein mL40 family 9606.ENSP00000333433 SKA2 121 Spindle and kinetochore-associated protein 2; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a [...] 9606.ENSP00000333441 TREX2 236 Three prime repair exonuclease 2; Exonuclease with a preference for double-stranded DNA with mismatched 3' termini. May play a role in DNA repair; Belongs to the exonuclease superfamily. TREX family 9606.ENSP00000333487 MAGEA2B 314 Melanoma antigen family A, 2B; Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites. Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal d [...] 9606.ENSP00000333490 URAD 173 Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase; Catalyzes the stereoselective decarboxylation of 2-oxo- 4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin 9606.ENSP00000333496 KCND2 630 Potassium voltage-gated channel subfamily D member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action pote [...] 9606.ENSP00000333519 SLC24A3 644 Sodium/potassium/calcium exchanger 3; Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+); Solute carriers 9606.ENSP00000333534 CYP2F1 491 Cytochrome P450 2F1; May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3- methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine; Belongs to the cytochrome P450 family 9606.ENSP00000333539 MIPOL1 442 Mirror-image polydactyly 1 9606.ENSP00000333547 RAB11B 218 Ras-related protein Rab-11B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epitheli [...] 9606.ENSP00000333551 PROSC 275 Pyridoxal phosphate homeostasis protein; Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6 9606.ENSP00000333568 PRKD1 912 Serine/threonine-protein kinase D1; Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signaling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory res [...] 9606.ENSP00000333591 SLC35D3 416 Solute carrier family 35 member D3; May play a role in hemostasis as a regulator of the biosynthesis of platelet-dense granules; Solute carriers 9606.ENSP00000333593 NXPH4 308 Neurexophilin-4; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors; Belongs to the neurexophilin family 9606.ENSP00000333633 MTA1 715 Metastasis-associated protein MTA1; Transcriptional coregulator which can act as both a transcriptional corepressor and coactivator. As a part of the histone-deacetylase multiprotein complex (NuRD), regulates transcription of its targets by modifying the acetylation status of the target chromatin and cofactor accessibility to the target DNA. In conjunction with other components of NuRD, acts as a transcriptional corepressor of BRCA1, ESR1, TFF1 and CDKN1A. Acts as a transcriptional coactivator of BCAS3, PAX5 and SUMO2, independent of the NuRD complex. Stimulates the expression of WNT1 [...] 9606.ENSP00000333639 IFNL2 200 Interferon lambda-2; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN- stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type- s [...] 9606.ENSP00000333640 EYA2 538 Eyes absent homolog 2; Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its function in transcription regulat [...] 9606.ENSP00000333657 MX2 715 Interferon-induced GTP-binding protein Mx2; Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd). May play a role in regulating nucleocytoplasmic transport and cell-cycle progression 9606.ENSP00000333660 ZNF571 609 Zinc finger protein 571; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000333664 ACAA1 424 3-ketoacyl-CoA thiolase, peroxisomal; acetyl-CoA acyltransferase 1 9606.ENSP00000333666 ADI1 179 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase; Catalyzes the formation of formate and 2-keto-4- methylthiobutyrate (KMTB) from 1,2-dihydroxy-3-keto-5- methylthiopentene (DHK-MTPene). Also down-regulates cell migration mediated by MMP14. Necessary for hepatitis C virus replication in an otherwise non-permissive cell line 9606.ENSP00000333667 SHMT2 504 Serine hydroxymethyltransferase, mitochondrial; Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism. Thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA. Interconversion of serine and glycine. Associates with mitochondrial DNA. Plays a role in the deubiquitination of target proteins as component of the BRISC complex. Required for IFNAR1 deubiquitination by the BRISC complex; Belongs to the SHMT family 9606.ENSP00000333680 NFAM1 270 NFAT activation molecule 1; May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross- linking 9606.ENSP00000333685 MAPK11 364 Mitogen-activated protein kinase 11; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK11 functions are mostly redundant with those of MA [...] 9606.ENSP00000333697 TMEM179B 219 Transmembrane protein 179B; Belongs to the TMEM179 family 9606.ENSP00000333724 OR6X1 312 Olfactory receptor 6X1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000333725 ZNF26 533 Zinc finger protein 26; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000333735 NPAP1 1156 Nuclear pore-associated protein 1; May be involved in spermatogenesis 9606.ENSP00000333769 BSG 385 Basigin; Plays an important role in targeting the monocarboxylate transporters SLC16A1, SLC16A3, SLC16A8 and SLC16A11 to the plasma membrane. Plays pivotal roles in spermatogenesis, embryo implantation, neural network formation and tumor progression. Stimulates adjacent fibroblasts to produce matrix metalloproteinases (MMPS). Seems to be a receptor for oligomannosidic glycans. In vitro, promotes outgrowth of astrocytic processes; Blood group antigens 9606.ENSP00000333776 ZNF479 524 Zinc finger protein 479; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000333779 EVI2B 448 Protein EVI2B; Required for granulocyte differentiation and functionality of hematopoietic progenitor cells through the control of cell cycle progression and survival of hematopoietic progenitor cells; CD molecules 9606.ENSP00000333800 MRGPRX2 330 Mas-related G-protein coupled receptor member X2; Mast cell-specific receptor for basic secretagogues, i.e. cationic amphiphilic drugs, as well as endo- or exogenous peptides, consisting of a basic head group and a hydrophobic core. Recognizes and binds small molecules containing a cyclized tetrahydroisoquinoline (THIQ), such as non-steroidal neuromuscular blocking drugs (NMBDs), including tubocurarine and atracurium. In response to these compounds, mediates pseudo- allergic reactions characterized by histamine release, inflammation and airway contraction (By similarity). Acts as a rec [...] 9606.ENSP00000333802 ZNF599 588 Zinc finger protein 599; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000333813 ALG12 488 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP- Man(7)GlcNAc(2)) required for protein glycosylation; Belongs to the glycosyltransferase 22 family 9606.ENSP00000333821 MC2R 297 Adrenocorticotropic hormone receptor; Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP); Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000333833 CMTM4 234 CKLF like MARVEL transmembrane domain containing 4 9606.ENSP00000333836 FIGN 759 Fidgetin; ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chr [...] 9606.ENSP00000333837 MRPL12 198 39S ribosomal protein L12, mitochondrial; Associates with mitochondrial RNA polymerase to activate transcription; Belongs to the bacterial ribosomal protein bL12 family 9606.ENSP00000333845 C11orf88 196 UPF0722 protein C11orf88; Chromosome 11 open reading frame 88 9606.ENSP00000333887 KRTAP22-1 48 Keratin-associated protein 22-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000333896 RPS6KA4 772 Ribosomal protein S6 kinase alpha-4; Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factor RELA, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional activity in response to T [...] 9606.ENSP00000333900 OIT3 545 Oncoprotein-induced transcript 3 protein; May be involved in hepatocellular function and development 9606.ENSP00000333915 CCDC42B 308 Cilia- and flagella-associated protein 73; May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm 9606.ENSP00000333917 DUSP18 188 Dual specificity protein phosphatase 18; Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP); Atypical dual specificity phosphatases 9606.ENSP00000333919 BTLA 289 B- and T-lymphocyte attenuator; Lymphocyte inhibitory receptor which inhibits lymphocytes during immune response; CD molecules 9606.ENSP00000333920 TTF1 905 Transcription termination factor 1; Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity; Myb/SANT domain containing 9606.ENSP00000333926 ABCC5 1437 Multidrug resistance-associated protein 5; Acts as a multispecific organic anion pump which can transport nucleotide analogs; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily 9606.ENSP00000333934 TRMT11 463 tRNA (guanine(10)-N2)-methyltransferase homolog; Catalytic subunit of an S-adenosyl-L-methionine- dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs 9606.ENSP00000333938 NEXN 675 Nexilin; Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity; I-set domain containing 9606.ENSP00000333942 KIF9 790 Kinesin-like protein KIF9; Kinesin family member 9; Kinesins 9606.ENSP00000333946 COQ6 468 Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial; FAD-dependent monooxygenase required for the C5-ring hydroxylation during ubiquinone biosynthesis. Catalyzes the hydroxylation of 3-polyprenyl-4-hydroxybenzoic acid to 3- polyprenyl-4,5-dihydroxybenzoic acid. The electrons required for the hydroxylation reaction may be funneled indirectly from NADPH via a ferredoxin/ferredoxin reductase system to COQ6 9606.ENSP00000333948 RPS19BP1 136 Active regulator of SIRT1; Direct regulator of SIRT1. Enhances SIRT1-mediated deacetylation of p53/TP53, thereby participating in inhibition of p53/TP53-mediated transcriptional activity; Belongs to the AROS family 9606.ENSP00000333952 LCE5A 118 Late cornified envelope protein 5A; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family 9606.ENSP00000333956 SELV 346 Selenoprotein V; May be involved in a redox-related process 9606.ENSP00000333980 ZNF749 778 Zinc finger protein 749; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000333982 NDEL1 345 Nuclear distribution protein nudE-like 1; Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripe [...] 9606.ENSP00000333993 KRTAP17-1 105 Keratin-associated protein 17-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000333994 HBB 147 Hemoglobin subunit beta; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family 9606.ENSP00000334002 HAP1 619 Huntingtin-associated protein 1; Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via associati [...] 9606.ENSP00000334003 INTU 942 Protein inturned; Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity ef [...] 9606.ENSP00000334008 PARVA 412 Alpha-parvin; Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and dire [...] 9606.ENSP00000334037 EMC10 262 ER membrane protein complex subunit 10; Belongs to the EMC10 family 9606.ENSP00000334040 RSBN1L 846 Round spermatid basic protein 1 like 9606.ENSP00000334042 TAC4 113 Tachykinin-4; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin- C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility 9606.ENSP00000334044 UBL4B 174 Ubiquitin-like protein 4B; Ubiquitin like 4B 9606.ENSP00000334050 TAS2R42 314 Taste receptor type 2 member 42; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Taste 2 receptors 9606.ENSP00000334051 GNAL 458 Guanine nucleotide-binding protein G(olf) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters 9606.ENSP00000334061 HDAC6 1215 Histone deacetylase 6; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes (By similarity). Plays a central role in microtubule-dependent cell motility via deacetylation of tubulin. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer 9606.ENSP00000334068 OR13C8 320 Olfactory receptor 13C8; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000334072 TMEM212 194 Transmembrane protein 212 9606.ENSP00000334100 EXOC7 735 Exocyst complex component 7; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity) 9606.ENSP00000334113 DHRSX 330 Dehydrogenase/reductase SDR family member on chromosome X; Involved in the positive regulation of starvation- induced autophagy; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000334115 OR10T2 314 Olfactory receptor 10T2; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000334122 FGF3 239 Fibroblast growth factor 3; Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development; Belongs to the heparin-binding growth factors family 9606.ENSP00000334128 CYP27C1 372 Cytochrome P450 27C1; Catalyzes the conversion of all-trans retinol (also called vitamin A1, the precursor of 11-cis retinal) to 3,4- didehydroretinol (also called vitamin A2, the precursor of 11-cis 3,4-didehydroretinal). Also acts on all-trans retinal and all- trans retinoic acid; Cytochrome P450 family 27 9606.ENSP00000334134 RGS9BP 235 Regulator of G-protein signaling 9-binding protein; Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protectin [...] 9606.ENSP00000334140 KLHDC10 442 Kelch domain-containing protein 10; Participates in the oxidative stress-induced cell death through MAP3K5 activation. Inhibits PPP5C phosphatase activity on MAP3K5 9606.ENSP00000334145 F3 295 Tissue factor; Initiates blood coagulation by forming a complex with circulating factor VII or VIIa. The [TF:VIIa] complex activates factors IX or X by specific limited protolysis. TF plays a role in normal hemostasis by initiating the cell-surface assembly and propagation of the coagulation protease cascade 9606.ENSP00000334148 WDR25 544 WD repeat-containing protein 25; WD repeat domain containing 9606.ENSP00000334153 RFTN1 578 Raftlin; May play a pivotal role in the formation and/or maintenance of lipid rafts. May regulate B-cell antigen receptor- mediated signaling 9606.ENSP00000334163 SPIN4 249 Spindlin-4; Exhibits H3K4me3-binding activity; Spindlin family 9606.ENSP00000334181 KDM4D 523 Lysine-specific demethylase 4D; Histone demethylase that specifically demethylates 'Lys- 9' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Demethylates both di- and trimethylated H3 'Lys- 9' residue, while it has no activity on monomethylated residues. Demethylation of Lys residue generates formaldehyde and succinate; Lysine demethylases 9606.ENSP00000334186 VWCE 955 Von Willebrand factor C and EGF domain-containing protein; May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma 9606.ENSP00000334187 LCE1F 118 Late cornified envelope protein 1F; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000334197 KRTAP10-11 298 Keratin-associated protein 10-11; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family 9606.ENSP00000334198 CACNA1H 2353 Voltage-dependent T-type calcium channel subunit alpha-1H; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening [...] 9606.ENSP00000334216 ATP4B 291 Potassium-transporting ATPase subunit beta; Required for stabilization and maturation of the catalytic proton pump alpha subunit and may also involved in cell adhesion and establishing epithelial cell polarity; ATPase H+/K+ transporting 9606.ENSP00000334223 SLC36A2 483 Proton-coupled amino acid transporter 2; Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity); Belongs to the amino acid/polyamine transporter 2 family 9606.ENSP00000334246 CYP4Z1 505 Cytochrome P450 family 4 subfamily Z member 1 9606.ENSP00000334267 C5orf38 138 Protein CEI; Chromosome 5 open reading frame 38 9606.ENSP00000334276 UGT2B28 529 UDP-glucuronosyltransferase 2B28; UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme has glucuronidating capacity with steroid substrates such as 5-beta-androstane 3-alpha,17-beta- diol, estradiol, ADT, eugenol and bile acids. Only isoform 1 seems to be active 9606.ENSP00000334287 KRTAP21-2 83 Keratin-associated protein 21-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000334289 C9orf85 157 Uncharacterized protein C9orf85; Chromosome 9 open reading frame 85 9606.ENSP00000334294 TCFL5 500 Transcription factor-like 5 protein; Putative transcription factor. Isoform 3 may play a role in early spermatogenesis; Basic helix-loop-helix proteins 9606.ENSP00000334300 ACTL7A 435 Actin-like protein 7A; Actin related proteins; Belongs to the actin family 9606.ENSP00000334308 SYNE3 975 Nesprin-3; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is re [...] 9606.ENSP00000334314 EML1 834 Echinoderm microtubule-associated protein-like 1; Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se; Belongs to the WD repeat EMAP family 9606.ENSP00000334319 PCLO 5142 Protein piccolo; May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking; C2 domain containing 9606.ENSP00000334329 UNC5B 945 Netrin receptor UNC5B; Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion (By similarity). Functions as netrin receptor that negatively regulates vascular branching during angiogenesis. Mediates retraction of tip cell filopodia on endothelial growth cones in response to netrin (By similarity). It also acts as a dependence receptor required for apoptosis induction when not ass [...] 9606.ENSP00000334330 DEFB105A 78 Defensin, beta 105A; Has antibacterial activity; Defensins, beta 9606.ENSP00000334364 DEFB106B 65 Defensin, beta 106B; Has antibacterial activity. Acts as a ligand for C-C chemokine receptor CCR2; Belongs to the beta-defensin family 9606.ENSP00000334373 KPNA4 521 Importin subunit alpha-3; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta ar [...] 9606.ENSP00000334375 LRCH3 712 Leucine rich repeats and calponin homology domain containing 3 9606.ENSP00000334379 C2CD3 2353 C2 domain-containing protein 3; Component of the centrioles that acts as a positive regulator of centriole elongation. Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation. Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3; C2 domain containing 9606.ENSP00000334382 HOMER1 354 Homer protein homolog 1; Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoform 1 regulates the trafficking and surface expression of GRM5. Isoform 3 acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1 to regulate synaptic metabo [...] 9606.ENSP00000334393 OR4F5 305 Olfactory receptor 4F5; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000334410 PRAMEF14 474 PRAME family member 14 9606.ENSP00000334415 FAM183A 134 Protein FAM183A; Family with sequence similarity 183 member A; Belongs to the FAM183 family 9606.ENSP00000334418 OR4C12 309 Olfactory receptor 4C12; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000334430 FAM9C 166 Protein FAM9C; Family with sequence similarity 9 member C 9606.ENSP00000334437 NUDT17 328 Nucleoside diphosphate-linked moiety X motif 17; Probably mediates the hydrolysis of some nucleoside diphosphate derivatives; Nudix hydrolase family 9606.ENSP00000334441 OR10J5 309 Olfactory receptor 10J5; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000334448 GNG2 71 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction (By similarity) 9606.ENSP00000334452 OR13F1 319 Olfactory receptor 13F1; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000334456 OR5D14 314 Olfactory receptor 5D14; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000334458 GATA4 442 Transcription factor GATA-4; Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function. In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it downregulates endocardial and endothelial gene expression. Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac- specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in coop [...] 9606.ENSP00000334463 LYPD6 171 Ly6/PLAUR domain-containing protein 6; Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain. Inhibits nicotine-induced Ca(2+) influx through nAChRs. Acts as a positive regulator of Wnt/beta-catenin signaling (By similarity); LY6/PLAUR domain containing 9606.ENSP00000334472 FOXE3 319 Forkhead box protein E3; Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle. During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pathway that is crucial for the development of the anterior segment of the eye; Forkhead boxes 9606.ENSP00000334474 ZMIZ1 1067 Zinc finger MIZ domain-containing protein 1; Acts as transcriptional coactivator. Increases ligand- dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation. Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity); Zinc fingers MIZ-type 9606.ENSP00000334501 DMRTC1B 192 DMRT like family C1B; Belongs to the DMRT family 9606.ENSP00000334538 SREK1 624 Splicing regulatory glutamine/lysine-rich protein 1; Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity); RNA binding motif containing 9606.ENSP00000334547 TAL2 108 T-cell acute lymphocytic leukemia protein 2; Basic helix-loop-helix proteins 9606.ENSP00000334553 PPIL2 520 Peptidyl-prolyl cis-trans isomerase-like 2; May catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides thereby assisting the folding of proteins (By similarity). May also function as a chaperone, playing a role in transport to the cell membrane of BSG for instance. May also have a protein ubiquitin ligase activity acting as an E3 ubiquitin protein ligase or as an ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. By mediating 'Lys-48'-linked polyubiquitination of proteins could target them for proteasomal degradation; Cyclo [...] 9606.ENSP00000334560 KRTAP6-2 62 Keratin-associated protein 6-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000334563 MYO18B 2567 Unconventional myosin-XVIIIb; May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000334564 POLR3C 534 DNA-directed RNA polymerase III subunit RPC3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB- DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during [...] 9606.ENSP00000334592 CYP2R1 501 Vitamin D 25-hydroxylase; Has a D-25-hydroxylase activity on both forms of vitamin D, vitamin D(2) and D(3); Cytochrome P450 family 2 9606.ENSP00000334611 TMPRSS11A 421 Transmembrane protease serine 11A; Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest 9606.ENSP00000334642 PDZD8 1154 PDZ domain-containing protein 8; Molecular tethering protein that connects endoplasmic reticulum and mitochondria membranes. PDZD8- dependent endoplasmic reticulum-mitochondria membrane tethering is essential for endoplasmic reticulum-mitochondria Ca(2+) transfer. In neurons, involved in the regulation of dendritic Ca(2+) dynamics by regulating mitochondrial Ca(2+) uptake in neurons. Plays an indirect role in the regulation of cell morphology and cytoskeletal organization. May inhibit herpes simplex virus 1 infection at an early stage; PDZ domain containing 9606.ENSP00000334644 LCE3C 94 Late cornified envelope protein 3C; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family 9606.ENSP00000334650 KCNK18 384 Potassium channel subfamily K member 18; Outward rectifying potassium channel. Produces rapidly activating outward rectifier K(+) currents. May function as background potassium channel that sets the resting membrane potential. Channel activity is directly activated by calcium signal. Activated by the G(q)-protein coupled receptor pathway. The calcium signal robustly activates the channel via calcineurin, whereas the anchoring of 14-3-3/YWHAH interferes with the return of the current to the resting state after activation. Inhibited also by arachidonic acid and other naturally occurring [...] 9606.ENSP00000334657 TRIM46 759 Tripartite motif-containing protein 46; Microtubule-associated protein that is involved in the formation of parallel microtubule bundles linked by cross-bridges in the proximal axon. Required for the uniform orientation and maintenance of the parallel microtubule fascicles, which are important for efficient cargo delivery and trafficking in axons. Thereby also required for proper axon specification, the establishment of neuronal polarity and proper neuronal migration; Belongs to the TRIM/RBCC family 9606.ENSP00000334665 FSCN2 516 Fascin-2; Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis; Fascins 9606.ENSP00000334675 ERCC6L 1250 DNA excision repair protein ERCC-6-like; DNA helicase that acts as an essential component of the spindle assembly checkpoint. Contributes to the mitotic checkpoint by recruiting MAD2 to kinetochores and monitoring tension on centromeric chromatin. Acts as a tension sensor that associates with catenated DNA which is stretched under tension until it is resolved during anaphase. Functions as ATP-dependent DNA translocase. Can promote Holliday junction branch migration (in vitro) 9606.ENSP00000334681 DEFB107A 70 Defensin, beta 107A; Has antibacterial activity; Defensins, beta 9606.ENSP00000334696 KRTAP19-7 63 Keratin-associated protein 19-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000334714 IGFN1 3708 Immunoglobulin-like and fibronectin type III domain containing 1 9606.ENSP00000334721 OR6P1 317 Olfactory receptor 6P1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000334767 CCDC84 332 Coiled-coil domain containing 84 9606.ENSP00000334785 TESC 214 Calcineurin B homologous protein 3; Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the pho [...] 9606.ENSP00000334798 KRT26 468 Keratin, type I cytoskeletal 26; Keratins, type I; Belongs to the intermediate filament family 9606.ENSP00000334801 DHRS4L2 232 Dehydrogenase/reductase SDR family member 4-like 2; Probable oxidoreductase; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000334805 H1FNT 255 Testis-specific H1 histone; Essential for normal spermatogenesis and male fertility. Required for proper cell restructuring and DNA condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm chromatin and the subsequent production of functional sperm. Binds both double-stranded and single-stranded DNA, ATP and protamine-1; Histones 9606.ENSP00000334808 USP16 823 Ubiquitin carboxyl-terminal hydrolase 16; Specifically deubiquitinates 'Lys-120' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A is a prerequisite for subsequent phosphorylation at 'Ser-11' of histone H3 (H3S10ph), and is required for chromosome segregation when cells enter into mitosis. In resting B- and T- lymphocytes, phosphorylation by AURKB leads to enhance its activity, thereby maintaining transcription in resting lymphocytes. Regulates Hox gene expression via histone H2A deubiq [...] 9606.ENSP00000334813 RAX 346 Retinal homeobox protein Rx; Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter; PRD class homeoboxes and pseudogenes 9606.ENSP00000334834 KRTAP13-4 160 Keratin-associated protein 13-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000334836 BMP2K 1161 BMP-2-inducible protein kinase; May be involved in osteoblast differentiation 9606.ENSP00000334840 PNRC2 139 Proline-rich nuclear receptor coactivator 2; Involved in nonsense-mediated mRNA decay (NMD) by acting as a bridge between the mRNA decapping complex and the NMD machinery. May act by targeting the NMD machinery to the P-body and recruiting the decapping machinery to aberrant mRNAs. Required for UPF1/RENT1 localization to the P-body. Plays a role in glucocorticoid receptor-mediated mRNA degradation by interacting with the glucocorticoid receptor NR3C1 in a ligand-dependent manner when it is bound to the 5' UTR of target mRNAs and recruiting the RNA helicase UPF1 and the mRNA-decapping e [...] 9606.ENSP00000334849 TMEM104 496 Transmembrane protein 104; Belongs to the TMEM104 family 9606.ENSP00000334851 RGS7BP 257 Regulator of G-protein signaling 7-binding protein; Regulator of G protein-coupled receptor (GPCR) signaling. Regulatory subunit of the R7-Gbeta5 complexes that acts by controlling the subcellular location of the R7-Gbeta5 complexes. When palmitoylated, it targets the R7-Gbeta5 complexes to the plasma membrane, leading to inhibit G protein alpha subunits. When it is unpalmitoylated, the R7-Gbeta5 complexes undergo a nuclear/cypolasmic shuttling. May also act by controlling the proteolytic stability of R7 proteins, probably by protecting them from degradation 9606.ENSP00000334853 ZNF555 628 Zinc finger protein 555; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000334854 ZACN 412 Zinc-activated ligand-gated ion channel; Zinc-activated ligand-gated ion channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family 9606.ENSP00000334866 KRTAP15-1 137 Keratin-associated protein 15-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000334869 LCE1A 110 Late cornified envelope protein 1A; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000334872 MT1F 61 Metallothionein-1F; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family 9606.ENSP00000334876 GRK1 563 Rhodopsin kinase; Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade. This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily 9606.ENSP00000334879 SOWAHB 793 Ankyrin repeat domain-containing protein SOWAHB; Sosondowah ankyrin repeat domain family member B; Belongs to the SOWAH family 9606.ENSP00000334910 PDE2A 941 cGMP-dependent 3',5'-cyclic phosphodiesterase; Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Plays an important role in growth and invasion of malignant melanoma cells (e.g. pseudomyxoma peritonei (PMP) cell line) 9606.ENSP00000334922 KRTAP9-4 154 Keratin-associated protein 9-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000334928 PTPRB 2215 Receptor-type tyrosine-protein phosphatase beta; Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signaling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growt [...] 9606.ENSP00000334934 OR9Q1 310 Olfactory receptor 9Q1; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000334940 GGN 652 Gametogenetin; May be involved in spermatogenesis 9606.ENSP00000334941 PTPRU 1446 Receptor-type tyrosine-protein phosphatase U; Tyrosine-protein phosphatase which dephosphorylates CTNNB1. Regulates CTNNB1 function both in cell adhesion and signaling. May function in cell proliferation and migration and play a role in the maintenance of epithelial integrity. May play a role in megakaryocytopoiesis; Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily 9606.ENSP00000334952 GPR125 1321 Adhesion G protein-coupled receptor A3; Orphan receptor that may have a role in planar cell polarity pathway; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000334958 RLTPR 1435 Capping protein, Arp2/3 and myosin-I linker protein 2; Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells, and hence generates uncapped barbed ends and enhances actin polymerization. Plays a role in cell protrusion formations; involved in cell polarity, lamellipodial assembly, membrane ruffling and macropinosome formations. Involved as well in cell migration and invadopodia formation during woun [...] 9606.ENSP00000334974 C3orf70 250 UPF0524 protein C3orf70; Chromosome 3 open reading frame 70; Belongs to the UPF0524 family 9606.ENSP00000334985 KRTAP19-5 72 Keratin-associated protein 19-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000334996 CCIN 588 Calicin; Possible morphogenetic cytoskeletal element in spermiogenic differentiation; BTB domain containing 9606.ENSP00000334998 MT1B 61 Metallothionein-1B; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids 9606.ENSP00000335006 LCE3A 89 Late cornified envelope protein 3A; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family 9606.ENSP00000335008 SPIN2B 258 Spindlin-2B; Involved in the regulation of cell cycle progression, this activity is related to the inhibition of apoptosis following the removal of essential growth factors. Exhibits H3K4me3-binding activity; Spindlin family 9606.ENSP00000335017 PRR30 412 Proline-rich protein 30; Proline rich 30 9606.ENSP00000335024 SERPINA11 422 Serpin peptidase inhibitors 9606.ENSP00000335025 OR5D18 313 Olfactory receptor 5D18; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000335029 RASA3 834 Ras GTPase-activating protein 3; Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor; C2 and RasGAP domain containing 9606.ENSP00000335038 VSTM2B 285 V-set and transmembrane domain containing 2B 9606.ENSP00000335040 FAM129C 697 Niban-like protein 2; Family with sequence similarity 129 member C; Belongs to the Niban family 9606.ENSP00000335042 ZNF486 463 Zinc finger protein 486; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000335044 ARID2 1835 AT-rich interactive domain-containing protein 2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes; AT-rich interaction domain containing 9606.ENSP00000335055 WASF3 502 Wiskott-Aldrich syndrome protein family member 3; Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape; Wiskott-Aldrich Syndrome protein family 9606.ENSP00000335060 HPDL 371 4-hydroxyphenylpyruvate dioxygenase-like protein; May have dioxygenase activity 9606.ENSP00000335062 PDCD1 288 Programmed cell death protein 1; Inhibitory cell surface receptor involved in the regulation of T-cell function during immunity and tolerance. Upon ligand binding, inhibits T-cell effector functions in an antigen- specific manner. Possible cell death inducer, in association with other factors; CD molecules 9606.ENSP00000335074 GHRL 117 Appetite-regulating hormone; Ghrelin is the ligand for growth hormone secretagogue receptor type 1 (GHSR). Induces the release of growth hormone from the pituitary. Has an appetite-stimulating effect, induces adiposity and stimulates gastric acid secretion. Involved in growth regulation; Endogenous ligands 9606.ENSP00000335076 EDARADD 215 Ectodysplasin-A receptor-associated adapter protein; Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF- kappa-B 9606.ENSP00000335082 FAM91A1 838 Protein FAM91A1; Family with sequence similarity 91 member A1; Belongs to the FAM91 family 9606.ENSP00000335083 PPP2R2C 447 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment 9606.ENSP00000335091 ZNRF1 227 E3 ubiquitin-protein ligase ZNRF1; E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 f [...] 9606.ENSP00000335094 TMEM17 198 Transmembrane protein 17; Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity); Belongs to the TMEM17 family 9606.ENSP00000335147 ANKRD37 158 Ankyrin repeat domain-containing protein 37; Ankyrin repeat domain containing 9606.ENSP00000335153 HSP90AA1 854 Heat shock protein HSP 90-alpha; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a ra [...] 9606.ENSP00000335156 GPR144 972 Adhesion G-protein coupled receptor D2; Orphan receptor 9606.ENSP00000335158 GPR142 462 Probable G-protein coupled receptor 142; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000335191 TBX10 385 T-box transcription factor TBX10; Probable transcriptional regulator involved in developmental processes; T-boxes 9606.ENSP00000335193 VPS39 886 Vam6/Vps39-like protein; Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2- dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation; Belongs to the VAM6/VPS39 family 9606.ENSP00000335196 GLDN 551 Gliomedin; Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with n [...] 9606.ENSP00000335201 BCDIN3D 292 Pre-miRNA 5'-monophosphate methyltransferase; O-methyltransferase that specifically dimethylates the 5' monophosphate of pre-miRNAs, acting as a negative regulator of miRNA processing. The 5' monophosphate of pre-miRNAs is recognized by DICER1 and is required for pre-miRNAs processing: methylation at this position reduces the processing of pre-miRNAs by DICER1. Able to mediate methylation of pre-miR-145, as well as other pre- miRNAs 9606.ENSP00000335203 ATPIF1 106 ATPase inhibitor, mitochondrial; Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron i [...] 9606.ENSP00000335229 C17orf82 251 Putative uncharacterized protein C17orf82; Chromosome 17 open reading frame 82 9606.ENSP00000335246 ENTPD5 428 Ectonucleoside triphosphate diphosphohydrolase 5; Uridine diphosphatase (UDPase) that promotes protein N- glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. The nucleotide hydrolyzing preference is GDP > IDP > UDP, but not any other nucleoside di-, mono- or triphosphates, nor thia [...] 9606.ENSP00000335247 STARD10 291 START domain-containing protein 10; May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes 9606.ENSP00000335255 ANGPTL5 388 Angiopoietin-related protein 5; Fibrinogen C domain containing; Angiopoietin like 9606.ENSP00000335261 TMLHE 421 Trimethyllysine dioxygenase, mitochondrial; Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML); Belongs to the gamma-BBH/TMLD family 9606.ENSP00000335281 DEFB105B 78 Beta-defensin 105; Has antibacterial activity; Defensins, beta 9606.ENSP00000335285 C1QL4 238 Complement C1q-like protein 4; May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By similarity); C1q and TNF related 9606.ENSP00000335292 SLC51B 128 Organic solute transporter subunit beta; Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids. Modulates SLC51A glycosylation, membrane trafficking and stability activities 9606.ENSP00000335304 DLST 453 Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex); The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of 3 enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) 9606.ENSP00000335306 DPPA4 304 Developmental pluripotency-associated protein 4; May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage 9606.ENSP00000335307 DEFB106A 65 Beta-defensin 106; Has antibacterial activity. Acts as a ligand for C-C chemokine receptor CCR2; Belongs to the beta-defensin family 9606.ENSP00000335320 BCL9L 1499 B-cell CLL/lymphoma 9-like protein; Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1 (By similarity); Belongs to the BCL9 family 9606.ENSP00000335321 SF3B1 1304 Splicing factor 3B subunit 1; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron; Armadillo-like helical d [...] 9606.ENSP00000335325 CCDC73 1079 Coiled-coil domain containing 73 9606.ENSP00000335357 CDKN3 212 Cyclin-dependent kinase inhibitor 3; May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates containing either phosphotyrosine or phosphoserine residues. Dephosphorylates CDK2 at 'Thr-160' in a cyclin-dependent manner; CDC14 phosphatases 9606.ENSP00000335358 LCE3B 95 Late cornified envelope protein 3B; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family 9606.ENSP00000335371 TRAPPC11 1133 Trafficking protein particle complex subunit 11; Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage; Trafficking protein particle complex 9606.ENSP00000335382 DEFB128 93 Beta-defensin 128; Has antibacterial activity; Defensins, beta 9606.ENSP00000335384 ZPBP2 338 Zona pellucida-binding protein 2; Is implicated in sperm-oocyte interaction during fertilization; Immunoglobulin like domain containing 9606.ENSP00000335392 SPATA12 190 Spermatogenesis-associated protein 12; Spermatogenesis associated 12 9606.ENSP00000335397 RTN4RL2 420 Reticulon-4 receptor-like 2; Cell surface receptor that plays a functionally redundant role in the inhibition of neurite outgrowth mediated by MAG (By similarity). Plays a functionally redundant role in postnatal brain development. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Does not seem to play a significant role in regulating axon regeneration in the adult central nervous system. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG (By similarity). Like other family members, pl [...] 9606.ENSP00000335437 ZNF20 532 Zinc finger protein 20; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000335463 CASC5 2342 Kinetochore scaffold 1; Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules. Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore 9606.ENSP00000335481 EMID1 443 EMI domain containing 1 9606.ENSP00000335493 FOXD2 495 Forkhead box protein D2; Probable transcription factor involved in embryogenesis and somatogenesis; Forkhead boxes 9606.ENSP00000335500 C7orf57 295 Uncharacterized protein C7orf57; Chromosome 7 open reading frame 57 9606.ENSP00000335503 KRTAP20-1 56 Keratin-associated protein 20-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000335529 OR5L1 311 Olfactory receptor 5L1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000335535 OR6N1 312 Olfactory receptor 6N1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000335538 DEFB131 70 Beta-defensin 131A; Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion; Belongs to the beta-defensin family 9606.ENSP00000335544 CCKBR 447 Gastrin/cholecystokinin type B receptor; Receptor for gastrin and cholecystokinin. The CKK-B receptors occur throughout the central nervous system where they modulate anxiety, analgesia, arousal, and neuroleptic activity. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000335557 SLX4IP 408 SLX4 interacting protein 9606.ENSP00000335560 ARHGEF25 619 Rho guanine nucleotide exchange factor 25; May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11- coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity) 9606.ENSP00000335565 KRTAP10-8 259 Keratin-associated protein 10-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family 9606.ENSP00000335566 KRTAP21-1 79 Keratin-associated protein 21-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000335567 KRTAP19-4 84 Keratin-associated protein 19-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000335575 OR1J2 313 Olfactory receptor 1J2; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000335578 ARGFX 315 Arginine-fifty homeobox; Putative transcription factor; PRD class homeoboxes and pseudogenes 9606.ENSP00000335592 GABRA5 462 Gamma-aminobutyric acid receptor subunit alpha-5; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000335595 TCP11L1 509 T-complex protein 11-like protein 1; T-complex 11 like 1 9606.ENSP00000335596 OR10H1 318 Olfactory receptor 10H1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000335605 CMTM7 175 CKLF like MARVEL transmembrane domain containing 7; Belongs to the chemokine-like factor family 9606.ENSP00000335612 SPATA21 469 Spermatogenesis-associated protein 21; Involved in the differentiation of haploid spermatids; EF-hand domain containing 9606.ENSP00000335614 PPFIA3 1194 Liprin-alpha-3; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates; Belongs to the liprin family. Liprin-alpha subfamily 9606.ENSP00000335615 BTBD7 1132 BTB/POZ domain-containing protein 7; Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E- cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity); BTB domain containing 9606.ENSP00000335616 C9orf47 202 Uncharacterized protein C9orf47; Chromosome 9 open reading frame 47 9606.ENSP00000335620 GSTA1 222 Glutathione S-transferase A1; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles; Belongs to the GST superfamily. Alpha family 9606.ENSP00000335623 VSIG10L 867 V-set and immunoglobulin domain containing 10 like 9606.ENSP00000335628 SPDYA 313 Speedy protein A; Regulates the G1/S phase transition of the cell cycle by binding and activating CDK1 and CDK2. Contributes to CDK2 activation without promoting CDK2 phosphorylation, by inducing a conformation change of the CDK2 T- loop that obstructs the substrate-binding cleft prior to kinase activation. Mediates cell survival during the DNA damage process through activation of CDK2; Belongs to the Speedy/Ringo family 9606.ENSP00000335632 CHP1 195 Calcineurin B homologous protein 1; Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exc [...] 9606.ENSP00000335636 NAA20 178 N-alpha-acetyltransferase 20; Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration; Belongs to the acetyltransferase family. ARD1 subfamily 9606.ENSP00000335651 FSD2 749 Fibronectin type III and SPRY domain containing 2 9606.ENSP00000335655 FMNL3 1027 Formin-like protein 3; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignement; Belongs to the formin homology family 9606.ENSP00000335660 KRTAP19-2 52 Keratin-associated protein 19-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000335675 PRELID2 189 PRELI domain containing 2 9606.ENSP00000335677 FOXK2 660 Forkhead box protein K2; Transcriptional regulator that recognizes the core sequence 5'-TAAACA-3'. Binds to NFAT-like motifs (purine-rich) in the IL2 promoter. Positively regulates WNT/beta- catenin signaling by translocating DVL proteins into the nucleus. Also binds to HIV-1 long terminal repeat. May be involved in both positive and negative regulation of important viral and cellular promoter elements; Forkhead boxes 9606.ENSP00000335808 FAM192A 254 Protein FAM192A; Family with sequence similarity 192 member A 9606.ENSP00000336127 TTC7B 843 Tetratricopeptide repeat protein 7B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions 9606.ENSP00000336524 CEP63 703 Centrosomal protein of 63 kDa; Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to [...] 9606.ENSP00000336528 NR1I2 473 Nuclear receptor subfamily 1 group I member 2; Nuclear receptor that binds and is activated by variety of endogenous and xenobiotic compounds. Transcription factor that activates the transcription of multiple genes involved in the metabolism and secretion of potentially harmful xenobiotics, drugs and endogenous compounds. Activated by the antibiotic rifampicin and various plant metabolites, such as hyperforin, guggulipid, colupulone, and isoflavones. Response to specific ligands is species-specific. Activated by naturally occurring steroids, such as pregnenolone and progesterone. Binds [...] 9606.ENSP00000336587 CDR2L 465 Cerebellar degeneration related protein 2 like 9606.ENSP00000336606 RAD54B 910 DNA repair and recombination protein RAD54B; Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group; Belongs to the SNF2/RAD54 helicase family 9606.ENSP00000336630 ADORA2A 412 Adenosine A2a receptor; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000336655 STRADA 431 STE20-related kinase adapter protein alpha; Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation 9606.ENSP00000336661 LRRC71 559 Leucine-rich repeat-containing protein 71; Leucine rich repeat containing 71 9606.ENSP00000336666 AP1S1 158 AP-1 complex subunit sigma-1A; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules 9606.ENSP00000336687 CBX3 183 Chromobox protein homolog 3; Seems to be involved in transcriptional silencing in heterochromatin-like complexes. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. May contribute to the association of the heterochromatin with the inner nuclear membrane through its interaction with lamin B receptor (LBR). Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins. Contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation, mediates the [...] 9606.ENSP00000336693 ABHD12B 362 Protein ABHD12B; Abhydrolase domain containing 12B 9606.ENSP00000336701 RAD51C 376 DNA repair protein RAD51 homolog 3; Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD21 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the inte [...] 9606.ENSP00000336702 EIF5A 184 Eukaryotic translation initiation factor 5A-1; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF- alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an impor [...] 9606.ENSP00000336712 TNPO1 898 Transportin-1; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis [...] 9606.ENSP00000336721 LARP1 1019 La-related protein 1; RNA-binding protein that promotes translation of specific classes of mRNAs downstream of the mTORC1 complex. Associates with the mRNA 5'cap in an MTOR-dependent manner and associates with mRNAs containing a 5' terminal oligopyrimidine (5'TOP) motif, which is present in mRNAs encoding for ribosomal proteins and several components of the translation machinery. Associates with actively translating ribosomes via interaction with PABPC1/PABP and stimulates translation of mRNAs containing a 5'TOP, thereby regulating cell growth and proliferation. Positively regulates th [...] 9606.ENSP00000336724 TBC1D22A 517 TBC1 domain family member 22A; May act as a GTPase-activating protein for Rab family protein(s) 9606.ENSP00000336729 GALNT16 558 Polypeptide N-acetylgalactosaminyltransferase 16; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor; Polypeptide N-acetylgalactosaminyltransferases 9606.ENSP00000336733 ST6GALNAC4 302 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4; Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. Prefers glycoproteins to glycolipids (By similarity); Sialyltransferases 9606.ENSP00000336740 LIMK1 647 LIM domain kinase 1; Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways. Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop. LIMK1 subsequently phosphorylates and inactivates the actin binding/depolymerizing factors cofilin-1/CFL1, cofilin- 2/CFL2 and destrin/DSTN, thereby preventing the cleavage of filamentous actin (F-actin), and stabilizing the actin cytoskeleton. I [...] 9606.ENSP00000336741 DHX15 795 Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA. In cooperation with TFIP11 seem to be involved in the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns; Belongs to the DEAD box helicase family. DEAH subfamily. DDX15/PRP43 sub-subfamily 9606.ENSP00000336747 HIP1 1037 Huntingtin-interacting protein 1; Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases [...] 9606.ENSP00000336750 SUPT7L 414 SPT7 like, STAGA complex gamma subunit 9606.ENSP00000336752 FIP1L1 594 Pre-mRNA 3'-end-processing factor FIP1; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre- mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex 9606.ENSP00000336762 ANG 147 Angiogenin; Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo; Ribonuclease A family 9606.ENSP00000336764 OPRL1 370 Nociceptin receptor; G-protein coupled opioid receptor that functions as receptor for the endogenous neuropeptide nociceptin. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling via G proteins mediates inhibition of adenylate cyclase activity and calcium channel activity. Arrestins modulate signaling via G proteins and mediate the activation of alternative signaling pathways that lead to the activation of MAP kinases. Plays a role in modulating nociception [...] 9606.ENSP00000336769 KIR2DL1 348 Killer cell immunoglobulin-like receptor 2DL1; Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis; CD molecules 9606.ENSP00000336775 SYNM 1565 Synemin; Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells; A-kinase anchoring proteins 9606.ENSP00000336783 TNRC6C 1726 Trinucleotide repeat-containing gene 6C protein; Plays a role in RNA-mediated gene silencing by micro- RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4- NOT and PAN deadenylase complexes; Trinucleotide repeat containing 9606.ENSP00000336790 ATF4 351 Cyclic AMP-dependent transcription factor ATF-4; Transcriptional activator. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Cooperates with FOXO1 in osteoblasts to regulate glucose homeostasis through suppression of beta-cell production and decrease in insulin production (By similarity). It binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I. Regulates the induction of DDIT3/CHOP and asparagine synthetase (ASNS) in response to endoplasmic reticulum (ER) stress. In concert wit [...] 9606.ENSP00000336799 TUBA1B 451 Tubulin alpha-1B chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Tubulins 9606.ENSP00000336800 KLHL25 589 Kelch-like protein 25; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for translational homeostasis. The BCR(KLHL25) ubiquitin ligase complex acts by mediating ubiquitination of hypophosphorylated EIF4EBP1 (4E-BP1): ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) probably serves as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low. The BCR(KLHL25) complex does not target EIF4EBP1 (4E-BP1) when it is hyperphosphorylated or associated with eIF4E; BTB domain con [...] 9606.ENSP00000336817 LUZP2 346 Leucine zipper protein 2 9606.ENSP00000336829 FGG 453 Fibrinogen gamma chain; Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re- epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhan [...] 9606.ENSP00000336831 PLS1 629 Plastin-1; Actin-bundling protein in the absence of calcium; EF-hand domain containing 9606.ENSP00000336842 ACTR8 624 Actin-related protein 8; Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize; Belongs to the actin family. ARP8 subfamily 9606.ENSP00000336861 IQCH 1027 IQ domain-containing protein H; May play a regulatory role in spermatogenesis 9606.ENSP00000336866 RBBP9 186 Putative hydrolase RBBP9; May play a role in the transformation process due to its capacity to confer resistance to the growth-inhibitory effects of TGF-beta1 through interaction with retinoblastoma and the subsequent displacement of E2F-1; Belongs to the RBBP9 family 9606.ENSP00000336868 CENPA 140 Histone H3-like centromeric protein A; Histone H3-like nucleosomal protein that is specifically found in centromeric nucleosomes. Replaces conventional H3 in the nucleosome core of centromeric chromatin at the inner plate of the kinetochore. The presence of CENPA subtly modifies the nucleosome structure and the way DNA is wrapped around the nucleosome and gives rise to protruding DNA ends that are less well-ordered and rigid compared to nucleosomes containing histone H3. May serve as an epigenetic mark that propagates centromere identity through replication and cell division. Required [...] 9606.ENSP00000336887 SLC39A9 307 Zinc transporter ZIP9; May act as a zinc-influx transporter; Belongs to the ZIP transporter (TC 2.A.5) family 9606.ENSP00000336888 SLC44A2 706 Choline transporter-like protein 2; Isoform 1, but not isoform 3, exhibits some choline transporter activity; Solute carriers 9606.ENSP00000336894 NAB1 487 NGFI-A-binding protein 1; Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2 9606.ENSP00000336923 ARHGAP10 786 Rho GTPase-activating protein 10; GTPase activator for the small GTPases RhoA and Cdc42 by converting them to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death (By similarity) 9606.ENSP00000336931 PNRC1 327 Proline-rich nuclear receptor coactivator 1; Nuclear receptor coactivator. May play a role in signal transduction 9606.ENSP00000336984 HORMAD2 307 HORMA domain-containing protein 2; Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal [...] 9606.ENSP00000336987 TMEM155 130 Transmembrane protein 155 9606.ENSP00000336994 CLPTM1 669 Cleft lip and palate transmembrane protein 1; May play a role in T-cell development; Belongs to the CLPTM1 family 9606.ENSP00000337008 ZNF644 1327 Zinc finger protein 644; May be involved in transcriptional regulation 9606.ENSP00000337014 HFE2 426 Hemojuvelin; Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis; Belongs to the repulsive guidance molecule (RGM) family 9606.ENSP00000337040 UNC119 240 Protein unc-119 homolog A; Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid- binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons. Prob [...] 9606.ENSP00000337053 SEL1L 794 Protein sel-1 homolog 1; Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling 9606.ENSP00000337060 NME1 177 Nucleoside diphosphate kinase A; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein- coupled receptor endocytosis, and gene expression. Required for [...] 9606.ENSP00000337065 CXCL14 111 C-X-C motif chemokine 14; Potent chemoattractant for neutrophils, and weaker for dendritic cells. Not chemotactic for T-cells, B-cells, monocytes, natural killer cells or granulocytes. Does not inhibit proliferation of myeloid progenitors in colony formation assays; Chemokine ligands 9606.ENSP00000337081 ZNF112 913 Zinc finger protein 112; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000337088 MEN1 615 Menin; Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the [...] 9606.ENSP00000337103 CHAT 748 Choline O-acetyltransferase; Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses; Belongs to the carnitine/choline acetyltransferase family 9606.ENSP00000337122 ZNF354A 605 Zinc finger protein 354A; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000337128 EDN3 238 Endothelin-3; Endothelins are endothelium-derived vasoconstrictor peptides; Endogenous ligands 9606.ENSP00000337133 SERPINA9 435 Serpin A9; Protease inhibitor that inhibits trypsin and trypsin- like serine proteases (in vitro). Inhibits plasmin and thrombin with lower efficiency (in vitro); Belongs to the serpin family 9606.ENSP00000337146 ENOX2 610 Ecto-NOX disulfide-thiol exchanger 2; May be involved in cell growth. Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide- thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 22 minutes and play a role in control of the ultradian cellular biological clock; RNA binding motif containing 9606.ENSP00000337159 ZFYVE16 1539 Zinc finger FYVE domain-containing protein 16; May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes; Protein phosphatase 1 regulatory subunits 9606.ENSP00000337168 EPB41L1 881 Band 4.1-like protein 1; May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases; Erythrocyte membrane protein band 4.1 9606.ENSP00000337180 AZIN1 448 Antizyme inhibitor 1; Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme- binding. Inhibits antizyme- dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production 9606.ENSP00000337194 PRPF4B 1007 Serine/threonine-protein kinase PRP4 homolog; Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF 9606.ENSP00000337224 LRAT 230 Lecithin retinol acyltransferase; Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments; [...] 9606.ENSP00000337226 CDCA4 241 Cell division cycle-associated protein 4; May participate in the regulation of cell proliferation through the E2F/RB pathway. May be involved in molecular regulation of hematopoietic stem cells and progenitor cell lineage commitment and differentiation (By similarity) 9606.ENSP00000337255 KCNE1 129 Potassium voltage-gated channel subfamily E member 1; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with K [...] 9606.ENSP00000337261 ARHGEF1 927 Rho guanine nucleotide exchange factor 1; Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2- induced RhoA activation 9606.ENSP00000337289 CENPQ 268 Centromere protein Q; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Plays an important role in chromosome congression and in the recruitment of CENP-O complex (which comprises CENPO, CENPP, CENPQ and CENPU), CENPE and PLK1 to the kinetochores; Constitutive centromere associated network 9606.ENSP00000337332 SIRT6 355 NAD-dependent protein deacetylase sirtuin-6; NAD-dependent protein deacetylase. Has deacetylase activity towards histone H3K9Ac and H3K56Ac. Modulates acetylation of histone H3 in telomeric chromatin during the S-phase of the cell cycle. Deacetylates histone H3K9Ac at NF-kappa-B target promoters and may down-regulate the expression of a subset of NF- kappa-B target genes. Acts as a corepressor of the transcription factor HIF1A to control the expression of multiple glycolytic genes to regulate glucose homeostasis. Required for genomic stability. Regulates the production of TNF protein. [...] 9606.ENSP00000337335 SLC22A8 542 Solute carrier family 22 member 8; Plays an important role in the excretion/detoxification of endogenous and exogenous organic anions, especially from the brain and kidney. Involved in the transport basolateral of steviol, fexofenadine. Transports benzylpenicillin (PCG), estrone- 3-sulfate (E1S), cimetidine (CMD), 2,4-dichloro-phenoxyacetate (2,4-D), p-amino-hippurate (PAH), acyclovir (ACV) and ochratoxin (OTA); Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family 9606.ENSP00000337340 MED19 194 Mediator of RNA polymerase II transcription subunit 19; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000337353 TDP1 608 Tyrosyl-DNA phosphodiesterase 1; DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 3'-phosphodiester bond, giving rise to DNA with a free 3' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase I active site tyrosine residue. Hydrolyzes 3'-phosphoglycolates on protruding 3' ends on DNA double-strand breaks due to DNA damage by radiation and free radicals. Acts on blunt-ended double-strand DNA breaks and on single-stranded DNA. Has low 3'exonuclease activity and can remove a single nucleoside from the [...] 9606.ENSP00000337354 LIPA 399 Lysosomal acid lipase/cholesteryl ester hydrolase; Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor- mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000337358 CECR5 423 Haloacid dehalogenase-like hydrolase domain-containing 5; Cat eye syndrome chromosome region, candidate 5 9606.ENSP00000337363 ZNF394 561 Zinc finger protein 394; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000337368 ZNF224 707 Zinc finger protein 224; May be involved in transcriptional regulation as a transcriptional repressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000337383 NLRP3 1036 NACHT, LRR and PYD domains-containing protein 3; As the sensor component of the NLRP3 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP3, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1- catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. Activation of NLRP3 inflammasome is also required for HMGB1 secretion. The active cytoki [...] 9606.ENSP00000337393 UXT 169 Protein UXT; Involved in gene transcription regulation. Acts in concert with the corepressor URI1 to regulate androgen receptor AR-mediated transcription. Together with URI1, associates with chromatin to the NKX3-1 promoter region. Negatively regulates the transcriptional activity of the estrogen receptor ESR1 by inducing its translocation into the cytoplasm. May act as nuclear chaperone that facilitates the formation of the NF-kappa-B enhanceosome and thus positively regulates NF-kappa-B transcription activity. Potential component of mitochondrial-associated LRPPRC, a multidomain orga [...] 9606.ENSP00000337425 HYAL3 417 Hyaluronidase-3; Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro [...] 9606.ENSP00000337432 IL17F 163 Interleukin-17F; Ligand for IL17RA and IL17RC. The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC. Involved in stimulating the production of other cytokines such as IL6, IL8 and CSF2, and in regulation of cartilage matrix turnover. Also involved in stimulating the proliferation of peripheral blood mononuclear cells and T-cells and in inhibition of angiogenesis. Plays a role in the induction of neutrophilia in the lungs and in the exacerbation of antigen-induced pulmonary allergic inflammation (By similarity); Belongs to the I [...] 9606.ENSP00000337439 DACT1 836 Dapper homolog 1; Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizing CTNNB1 may involve inhibition of GSK3B activity. Promotes the membrane l [...] 9606.ENSP00000337443 NXN 435 Nucleoredoxin; Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity); Nucleoredoxin family 9606.ENSP00000337445 ELAC2 826 Zinc phosphodiesterase ELAC protein 2; Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA 9606.ENSP00000337446 STARD3 445 StAR-related lipid transfer protein 3; Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes. Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB. Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes. May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membr [...] 9606.ENSP00000337451 EPHA3 983 Ephrin type-A receptor 3; Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration. Plays a role in car [...] 9606.ENSP00000337452 NIPA1 329 Magnesium transporter NIPA1; Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity); Belongs to the NIPA family 9606.ENSP00000337466 WFDC10B 89 Protein WFDC10B; WAP four-disulfide core domain containing 9606.ENSP00000337473 ZNF324B 544 Zinc finger protein 324B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000337477 FAM60A 221 SIN3-HDAC complex-associated factor; Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway. Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is essential for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming (By sim [...] 9606.ENSP00000337478 ARL17A 177 ADP ribosylation factor like GTPase 17A; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity); ARF GTPase family 9606.ENSP00000337501 NRIP2 281 Nuclear receptor-interacting protein 2; Down-regulates transcriptional activation by nuclear receptors such as NR1F2 9606.ENSP00000337510 FBXO40 709 F-box only protein 40; Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis; F-boxes other 9606.ENSP00000337512 CMTR2 770 Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2; S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognizes a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000337513 SRA1 236 Steroid receptor RNA activator 1; Functional RNA which acts as a transcriptional coactivator that selectively enhances steroid receptor-mediated transactivation ligand-independently through a mechanism involving the modulating N-terminal domain (AF-1) of steroid receptors. Also mediates transcriptional coactivation of steroid receptors ligand- dependently through the steroid-binding domain (AF-2). Enhances cellular proliferation and differentiation and promotes apoptosis in vivo. May play a role in tumorigenesis; Belongs to the SRA1 family 9606.ENSP00000337555 ZNF548 545 Zinc finger protein 548; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000337572 DGKH 1220 Diacylglycerol kinase eta; Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization 9606.ENSP00000337587 GGTLC1 225 Gamma-glutamyltransferase light chain 1; Gamma-glutamyltransferases 9606.ENSP00000337618 NIPA2 360 Magnesium transporter NIPA2; Acts as a selective Mg(2+) transporter; Belongs to the NIPA family 9606.ENSP00000337623 RNASEH2B 312 Ribonuclease H2 subunit B; Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes 9606.ENSP00000337632 SARNP 210 SAP domain-containing ribonucleoprotein; Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single- stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is [...] 9606.ENSP00000337641 PPP2R5E 467 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; Belongs to the phosphatase 2A regulatory subunit B56 family 9606.ENSP00000337675 EBAG9 213 Receptor-binding cancer antigen expressed on SiSo cells; May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1- beta converting enzyme (ICE)-like proteases 9606.ENSP00000337688 SEC62 399 Translocation protein SEC62; Required for preprotein translocation 9606.ENSP00000337691 MAPK15 544 Mitogen-activated protein kinase 15; In vitro, phosphorylates MBP; Mitogen-activated protein kinases 9606.ENSP00000337697 DCX 441 Neuronal migration protein doublecortin; Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration; Dou [...] 9606.ENSP00000337701 PNPLA2 504 Patatin-like phospholipase domain-containing protein 2; Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletio [...] 9606.ENSP00000337722 ARL6 186 ADP-ribosylation factor-like protein 6; Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent [...] 9606.ENSP00000337724 ZNF202 648 Zinc finger protein 202; Transcriptional repressor that binds to elements found predominantly in genes that participate in lipid metabolism. Among its targets are structural components of lipoprotein particles (apolipoproteins AIV, CIII, and E), enzymes involved in lipid processing (lipoprotein lipase, lecithin cholesteryl ester transferase), transporters involved in lipid homeostasis (ABCA1, ABCG1), and several genes involved in processes related to energy metabolism and vascular disease; SCAN domain containing 9606.ENSP00000337731 CIDEB 219 Cell death activator CIDE-B; Activates apoptosis 9606.ENSP00000337732 RUNDC3B 473 RUN domain containing 3B 9606.ENSP00000337733 KLK5 293 Kallikrein-5; May be involved in desquamation; Belongs to the peptidase S1 family. Kallikrein subfamily 9606.ENSP00000337746 ISYNA1 558 Inositol-3-phosphate synthase 1; Key enzyme in myo-inositol biosynthesis pathway that catalyzes the conversion of glucose 6-phosphate to 1-myo-inositol 1-phosphate in a NAD-dependent manner. Rate-limiting enzyme in the synthesis of all inositol-containing compounds 9606.ENSP00000337797 PIDD1 910 P53-induced death domain-containing protein 1; Promotes apoptosis downstream of the tumor suppressor as component of the DNA damage/stress response pathway that connects p53/TP53 to apoptosis. Associates with NEMO/IKBKG and RIP1 and enhances sumoylation and ubiquitination of NEMO/IKBKG which is important for activation of the transcription factor NF-kappa-B. Associates with CASP2/caspase-2 and CRADD/RAIDD, and induces activation of CASP2 which an important regulator in apoptotic pathways 9606.ENSP00000337804 SPAG17 2223 Sperm-associated antigen 17; Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts 9606.ENSP00000337816 MMP25 562 Matrix metalloproteinase-25; May activate progelatinase A; M10 matrix metallopeptidases 9606.ENSP00000337825 LCK 509 Tyrosine-protein kinase Lck; Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T- cells in the thymus and in the function of mature T-cells. Plays a key role in T-cell antigen receptor (TCR)-linked signal transduction pathways. Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors. Association of the TCR with a peptide antigen-bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, thereby recruiting the associated LCK protein [...] 9606.ENSP00000337838 RTN4 1192 Reticulon-4; Developmental neurite growth regulatory factor with a role as a negative regulator of axon-axon adhesion and growth, and as a facilitator of neurite branching. Regulates neurite fasciculation, branching and extension in the developing nervous system. Involved in down-regulation of growth, stabilization of wiring and restriction of plasticity in the adult CNS. Regulates the radial migration of cortical neurons via an RTN4R-LINGO1 containing receptor complex (By similarity). Isoform 2 reduces the anti-apoptotic activity of Bcl-xl and Bcl-2. This is likely consecutive to thei [...] 9606.ENSP00000337850 KPTN 436 KICSTOR complex protein kaptin; As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose 9606.ENSP00000337852 ZNF576 170 Zinc finger protein 576; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000337854 HEXDC 585 Hexosaminidase D; Has hexosaminidase activity; Belongs to the glycosyl hydrolase 20 family 9606.ENSP00000337862 OVOL1 267 Putative transcription factor Ovo-like 1; Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity); SNAG transcriptional repressors 9606.ENSP00000337889 MXD4 209 Max dimerization protein 4; Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000337907 MPP7 576 MAGUK p55 subfamily member 7; Acts as an important adapter that promotes epithelial cell polarity and tight junction formation via its interaction with DLG1. Involved in the assembly of protein complexes at sites of cell-cell contact; Belongs to the MAGUK family 9606.ENSP00000337915 CYP3A4 503 Cytochrome P450 3A4; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It performs a variety of oxidation reactions (e.g. caffeine 8-oxidation, omeprazole sulphoxidation, midazolam 1'-hydroxylation and midazolam 4- hydroxylation) of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Acts as a 1,8-cineole 2- exo-monooxygenase. The enzyme also hydroxylates etoposide. Catalyzes 4-beta-hydroxylation of cholesterol. May catalyze 25-hydroxylation of chol [...] 9606.ENSP00000337946 PACRG 296 Parkin coregulated gene protein; Suppresses cell death induced by accumulation of unfolded Pael receptor (Pael-R, a substrate of Parkin). Facilitates the formation of inclusions consisting of Pael-R, molecular chaperones, protein degradation molecules and itself when proteasome is inhibited. May play an important role in the formation of Lewy bodies and protection of dopaminergic neurons against Parkinson disease; Armadillo-like helical domain containing 9606.ENSP00000337949 HTR7 479 5-hydroxytryptamine receptor 7; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000337972 GDPD5 605 Glycerophosphodiester phosphodiesterase domain-containing protein 5; Promotes neurite formation. Cooperates with PRDX1 to drive postmitotic motor neuron differentiation. The glycerophosphodiester phosphodiesterase activity may be required for its role in neuronal differentiation. May contribute to the osmotic regulation of cellular glycerophosphocholine 9606.ENSP00000337976 SUV39H1 423 Histone-lysine N-methyltransferase SUV39H1; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys- 9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also requi [...] 9606.ENSP00000337991 SPTY2D1 685 Protein SPT2 homolog; Histone chaperone that stabilizes pre-existing histone tetramers and regulates replication-independent histone exchange on chromatin. Required for normal chromatin refolding in the coding region of transcribed genes, and for the suppression of spurious transcription. Binds DNA and histones and promotes nucleosome assembly (in vitro). Facilitates formation of tetrameric histone complexes containing histone H3 and H4. Modulates RNA polymerase 1-mediated transcription (By similarity). Binds DNA, with a preference for branched DNA species, such as Y-form DNA and Holli [...] 9606.ENSP00000337998 NCKAP5L 1334 Nck-associated protein 5-like; Regulates microtubule organization and stabilization. Promotes microtubule growth and bundling formation and stabilizes microtubules by increasing intense acetylation of microtubules. Both tubulin-binding and homodimer formation are required for NCKAP5L-mediated microtubule bundle formation 9606.ENSP00000338010 IL21R 538 Interleukin-21 receptor; This is a receptor for interleukin-21; CD molecules 9606.ENSP00000338013 CCDC183 534 Coiled-coil domain containing 183 9606.ENSP00000338019 DNAJB2 324 DnaJ homolog subfamily B member 2; Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family. In parallel, also contributes to the ubiquitin- dependent proteasomal degradation of misfolded proteins. Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes. Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein de [...] 9606.ENSP00000338030 STARD7 370 StAR-related lipid transfer protein 7, mitochondrial; May play a protective role in mucosal tissues by preventing exaggerated allergic responses; StAR related lipid transfer domain containing 9606.ENSP00000338034 SPRYD4 207 SPRY domain containing 4 9606.ENSP00000338039 PSMF1 271 Proteasome inhibitor PI31 subunit; Plays an important role in control of proteasome function. Inhibits the hydrolysis of protein and peptide substrates by the 20S proteasome. Also inhibits the activation of the proteasome by the proteasome regulatory proteins PA700 and PA28; Belongs to the proteasome inhibitor PI31 family 9606.ENSP00000338057 MRPL30 161 Mitochondrial ribosomal protein L30 9606.ENSP00000338093 TARSL2 802 Probable threonine--tRNA ligase 2, cytoplasmic; threonyl-tRNA synthetase like 2; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000338157 ZBTB16 673 Zinc finger and BTB domain-containing protein 16; Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000338164 TMEM217 229 Transmembrane protein 217 9606.ENSP00000338165 TMEM39B 492 Transmembrane protein 39B; Belongs to the TMEM39 family 9606.ENSP00000338171 SKAP1 359 Src kinase-associated phosphoprotein 1; Positively regulates T-cell receptor signaling by enhancing the MAP kinase pathway. Required for optimal conjugation between T-cells and antigen-presenting cells by promoting the clustering of integrin ITGAL on the surface of T-cells. May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells; Belongs to the SKAP family 9606.ENSP00000338173 PUM2 1064 Pumilio homolog 2; Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'-UGUANAUA-3', that is related to the Nanos Response Element (NRE) (, PubMed:21397187). Mediates post- transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Also mediates deadenylation- independent repression by promoting accessibility of miRNA [...] 9606.ENSP00000338185 PLCB1 1216 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes; C2 domain containing phospholipases 9606.ENSP00000338191 SNTB2 540 Beta-2-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN; Belongs to the syntrophin family 9606.ENSP00000338207 LMO1 156 Rhombotin-1; May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors; LIM domain containing 9606.ENSP00000338217 ZNF532 1301 Zinc finger protein 532; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000338228 C5orf56 126 Uncharacterized protein C5orf56; Chromosome 5 open reading frame 56 9606.ENSP00000338235 MTDH 582 Protein LYRIC; Downregulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF- kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance 9606.ENSP00000338258 CDC42EP4 356 Cdc42 effector protein 4; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation, when overexpressed in fibroblasts; Belongs to the BORG/CEP family 9606.ENSP00000338260 APOL4 351 Apolipoprotein L4; May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity) 9606.ENSP00000338272 HEY1 308 Hairy/enhancer-of-split related with YRPW motif protein 1; Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses tra [...] 9606.ENSP00000338276 CRISP1 249 Cysteine-rich secretory protein 1; May have a role in sperm-egg fusion and maturation; Belongs to the CRISP family 9606.ENSP00000338283 NPAS2 824 Neuronal PAS domain-containing protein 2; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time- keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune [...] 9606.ENSP00000338290 GZF1 711 GDNF-inducible zinc finger protein 1; Transcriptional repressor. Binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000338330 PAQR6 351 Membrane progestin receptor delta; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(s) mediated pathway. Involved in neurosteroid inhibition of apoptosis. May be involved in regulating rapid P4 signaling in the nervous system. Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone; Belongs to the ADIPOR family 9606.ENSP00000338343 SGCD 290 Delta-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix 9606.ENSP00000338345 SNCA 140 Alpha-synuclein; May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation; Parkinson disease associated genes 9606.ENSP00000338348 UBE2G2 165 Ubiquitin-conjugating enzyme E2 G2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-linked polyubiquitination. Involved in endoplasmic reticulum- associated degradation (ERAD); Ubiquitin conjugating enzymes E2 9606.ENSP00000338352 NUDT4 181 Diphosphoinositol polyphosphate phosphohydrolase 2; Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphate Ap6A, but not Ap5A. The major reaction products are ADP and p4a from Ap6A. Also able to hydrolyze 5-phosphoribose 1-diphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA; Belongs to the Nudix hydrolase family. DIP [...] 9606.ENSP00000338369 CELA3B 270 Chymotrypsin-like elastase family member 3B; Efficient protease with alanine specificity but only little elastolytic activity 9606.ENSP00000338389 MRPL35 188 Mitochondrial ribosomal protein L35 9606.ENSP00000338413 UBA1 1058 Ubiquitin-like modifier-activating enzyme 1; Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin- proteasome system. Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation- induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites 9606.ENSP00000338475 SUGCT 445 Succinate--hydroxymethylglutarate CoA-transferase; Catalyzes the succinyl-CoA-dependent conversion of glutarate to glutaryl-CoA. Can use different dicarboxylic acids as CoA acceptors, the preferred ones are glutarate, succinate, adipate, and 3-hydroxymethylglutarate; Belongs to the CaiB/BaiF CoA-transferase family 9606.ENSP00000338481 EPB41L2 1005 Band 4.1-like protein 2; Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase; Erythrocyte membrane protein band 4.1 9606.ENSP00000338487 MGAT4B 563 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B; Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N- linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains. Has lower affinities for donors or acceptors than MGAT4A, suggesting that, under physiological conditions, it is not the main contributor in N- glycan biosynthesis 9606.ENSP00000338512 AGTPBP1 1278 Cytosolic carboxypeptidase 1; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5; Armadillo-like helical domain containing 9606.ENSP00000338523 FNDC3B 1204 Fibronectin type III domain-containing protein 3B; May be a positive regulator of adipogenesis; Fibronectin type III domain containing 9606.ENSP00000338532 FAM53B 422 Protein FAM53B; Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization 9606.ENSP00000338533 TTC33 262 Tetratricopeptide repeat domain containing 9606.ENSP00000338562 STX3 289 Syntaxin-3; Potentially involved in docking of synaptic vesicles at presynaptic active zones; Belongs to the syntaxin family 9606.ENSP00000338572 ZNF212 495 Zinc finger protein 212; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000338573 GNL3L 582 Guanine nucleotide-binding protein-like 3-like protein; Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. Required for normal proces [...] 9606.ENSP00000338607 THEM6 208 Protein THEM6; Thioesterase superfamily member 6 9606.ENSP00000338613 CRYGN 182 Beta-gamma crystallins 9606.ENSP00000338624 TASP1 420 Threonine aspartase 1; Protease involved in KMT2A/MLL1 processing and, consequently, in the correct expression of the early HOXA gene cluster; Belongs to the Ntn-hydrolase family 9606.ENSP00000338627 SLC6A16 736 Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5; Solute carrier family 6 member 16 9606.ENSP00000338629 RERE 1566 Arginine-glutamic acid dipeptide repeats protein; Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death; GATA zinc finger domain containing 9606.ENSP00000338641 MUM1L1 696 PWWP domain-containing protein MUM1L1; PWWP domain containing; Belongs to the MUM1 family 9606.ENSP00000338648 MS4A4A 239 Membrane-spanning 4-domains subfamily A member 4A; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000338671 RHOBTB1 696 Rho-related BTB domain-containing protein 1; Rho related BTB domain containing 1 9606.ENSP00000338673 CDK10 360 Cyclin-dependent kinase 10; Cyclin-dependent kinase that phosphorylates the transcription factor ETS2 (in vitro) and positively controls its proteasomal degradation (in cells) 9606.ENSP00000338703 UGP2 508 UTP--glucose-1-phosphate uridylyltransferase; Plays a central role as a glucosyl donor in cellular metabolic pathways; Belongs to the UDPGP type 1 family 9606.ENSP00000338727 LRRFIP2 721 Leucine-rich repeat flightless-interacting protein 2; May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta- catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding; Belongs to the LRRFIP family 9606.ENSP00000338728 CCDC88A 1870 Girdin; Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Enhances phosphoinositide 3-kinase (PI3K)- dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself (By similarity). Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation [...] 9606.ENSP00000338766 NPHP3 1330 Nephrocystin-3; Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements 9606.ENSP00000338769 ASAP3 903 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3; Promotes cell proliferation; Ankyrin repeat domain containing 9606.ENSP00000338770 ZNF420 688 Zinc finger protein 420; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000338774 BCL11A 835 B-cell lymphoma/leukemia 11A; Transcription factor associated with the BAF SWI/SNF chromatin remodeling complex (By similarity). Repressor of fetal hemoglobin (HbF) level. Involved in brain development. Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. Essential factor in lymphopoiesis required for B- cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity) 9606.ENSP00000338777 AP3S2 193 AP-3 complex subunit sigma-2; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals 9606.ENSP00000338783 CHST5 411 Carbohydrate sulfotransferase 5; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues and O-linked sugars of mucin-type acceptors. Acts on the non-reducing terminal GlcNAc of short carbohydrate substrates. However, it does not transfer sulfate to longer carbohydrate substrates that have poly-N-acetyllactosamine structures. Has no activity toward keratan. Not involved in generating HEV-expressed ligands for SELL. Its substrate specificity may be infl [...] 9606.ENSP00000338785 STARD13 1113 StAR-related lipid transfer protein 13; GTPase-activating protein for RhoA, and perhaps for Cdc42. May be involved in regulation of cytoskeletal reorganization, cell proliferation and cell motility. Acts a tumor suppressor in hepatocellular carcinoma cells 9606.ENSP00000338788 ZC3H15 426 Zinc finger CCCH domain-containing protein 15; Protects DRG1 from proteolytic degradation; Zinc fingers CCCH-type 9606.ENSP00000338796 SSX2 223 Synovial sarcoma, X breakpoint 2; SSX family member 2 9606.ENSP00000338807 ZBTB49 765 Zinc finger and BTB domain-containing protein 49; Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000338812 C1QTNF6 278 Complement C1q tumor necrosis factor-related protein 6; C1q and TNF related 6 9606.ENSP00000338814 BAG5 488 BAG family molecular chaperone regulator 5; Inhibits both auto-ubiquitination of PRKN and ubiquitination of target proteins by PRKN (By similarity). May function as a nucleotide exchange factor for HSP/HSP70, promoting ADP release, and activating Hsp70-mediated refolding; BCL2 associated athanogene family 9606.ENSP00000338844 SEC23B 767 Protein transport protein Sec23B; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex 9606.ENSP00000338860 ZNF444 327 Zinc finger protein 444; Transcriptional regulator. Binds to the 5'-flanking critical region of the SCARF1 promoter; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000338862 BRIX1 353 Ribosome biogenesis protein BRX1 homolog; Required for biogenesis of the 60S ribosomal subunit 9606.ENSP00000338864 RASGRP2 609 RAS guanyl-releasing protein 2; Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activates other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway; Belongs to the RASGRP family 9606.ENSP00000338885 C2CD2L 707 Phospholipid transfer protein C2CD2L; Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5- bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane. It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling. Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers. In response to elevat [...] 9606.ENSP00000338887 LRRC8D 858 Volume-regulated anion channel subunit LRRC8D; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition. LRRC8A and LRRC8D are required for the uptak [...] 9606.ENSP00000338927 ZNF385A 386 Zinc finger protein 385A; RNA-binding protein that affects the localization and the translation of a subset of mRNA. May play a role in adipogenesis through binding to the 3'-UTR of CEBPA mRNA and regulation of its translation. Targets ITPR1 mRNA to dendrites in Purkinje cells, and may regulate its activity-dependent translation. With ELAVL1, binds the 3'-UTR of p53/TP53 mRNAs to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti- proliferative activity. May also bind CCNB1 mRNA. Alternatively, may also regulate p [...] 9606.ENSP00000338964 GGT7 662 Glutathione hydrolase 7; Cleaves glutathione conjugates; Gamma-glutamyltransferases 9606.ENSP00000338967 ARHGAP6 974 Rho GTPase-activating protein 6; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology 9606.ENSP00000338990 ATG101 218 Autophagy-related protein 101; Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation; Belongs to the ATG101 family 9606.ENSP00000339001 TUBB 444 Tubulin beta chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Tubulins 9606.ENSP00000339004 FOXG1 489 Forkhead box protein G1; Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon; Forkhead boxes 9606.ENSP00000339017 ATAD1 361 ATPase family AAA domain-containing protein 1; ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA- stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity); AAA ATPases 9606.ENSP00000339030 ZFP91 570 E3 ubiquitin-protein ligase ZFP91; Atypical E3 ubiquitin-protein ligase that mediates 'Lys- 63'-linked ubiquitination of MAP3K14/NIK, leading to stabilize and activate MAP3K14/NIK. It thereby acts as an activator of the non- canonical NF-kappa-B2/NFKB2 pathway. May also play an important role in cell proliferation and/or anti-apoptosis; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000339063 EEF1A1 462 Elongation factor 1-alpha 1; This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily 9606.ENSP00000339067 FGFBP3 258 Fibroblast growth factor-binding protein 3; Heparin-binding protein which binds to FGF2, prevents binding of FGF2 to heparin and probably inhibits immobilization of FGF2 on extracellular matrix glycosaminoglycans, allowing its release and subsequent activation of FGFR signaling which leads to increased vascular permeability 9606.ENSP00000339086 MKL2 1049 MKL/myocardin-like protein 2; Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation; Myocardin family 9606.ENSP00000339090 RBMX2 322 RNA binding motif protein, X-linked 2 9606.ENSP00000339095 RPS7 194 40S ribosomal protein S7; Required for rRNA maturation; Belongs to the eukaryotic ribosomal protein eS7 family 9606.ENSP00000339109 ANAPC1 1944 Anaphase-promoting complex subunit 1; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains; Belongs to the APC1 family 9606.ENSP00000339115 ESPNL 1005 Espin-like protein; Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing; Ankyrin repeat domain containing 9606.ENSP00000339136 ERAS 233 GTPase ERas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the tumor-like growth properties of embryonic stem cells (By similarity); Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000339145 RRP1B 758 Ribosomal RNA processing protein 1 homolog B; Positively regulates DNA damage-induced apoptosis by acting as a transcriptional coactivator of proapoptotic target genes of the transcriptional activator E2F1. Likely to play a role in ribosome biogenesis by targeting serine/threonine protein phosphatase PP1 to the nucleolus. Involved in regulation of mRNA splicing (By similarity). Inhibits SIPA1 GTPase activity (By similarity). Involved in regulating expression of extracellular matrix genes (By similarity). Associates with chromatin and may play a role in modulating chromatin structure; B [...] 9606.ENSP00000339155 CRISP2 243 Cysteine-rich secretory protein 2; May regulate some ion channels' activity and therebye regulate calcium fluxes during sperm capacitation; Cysteine rich secretory protein family 9606.ENSP00000339161 AIDA 306 Axin interactor, dorsalization-associated protein; Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin-independent dorsalization pathway activated by AXIN/JNK-signaling (By similarity); C2 domain containing 9606.ENSP00000339179 TSSK4 338 Testis-specific serine/threonine-protein kinase 4; May be involved in a signaling pathway during male germ cell development or mature sperm function (By similarity). Phosphorylates CREB1 on Ser-133 and stimulates downstream signaling; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000339182 ATP13A4 1196 Probable cation-transporting ATPase 13A4; ATPase orphan transporters; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily 9606.ENSP00000339186 GRAP2 330 GRB2-related adapter protein 2; Interacts with SLP-76 to regulate NF-AT activation. Binds to tyrosine-phosphorylated shc; SH2 domain containing 9606.ENSP00000339191 CAV1 178 Caveolin-1; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)- mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3- dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway. Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the interna [...] 9606.ENSP00000339208 DPP8 898 Dipeptidyl peptidase 8; Dipeptidyl peptidase that cleaves off N-terminal dipeptides from proteins having a Pro or Ala residue at position 2. May play a role in T-cell activation and immune function; Belongs to the peptidase S9B family. DPPIV subfamily 9606.ENSP00000339238 KRTAP24-1 254 Keratin-associated protein 24-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the PMG family 9606.ENSP00000339245 YTHDC1 727 YTH domain-containing protein 1; Regulator of alternative splicing that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs. M6A is a modification present at internal sites of mRNAs and some non- coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. Acts as a key regulator of exon-inclusion or exon-skipping during alternative splicing via interaction with mRNA splicing factors SRSF3 and SRSF10. Specifically binds m6A- containing mRNAs and promotes recruitment of SRSF3 to its mRNA- binding elements adjacent to m6A sites, leadin [...] 9606.ENSP00000339250 DPPA3 159 Developmental pluripotency-associated protein 3; Primordial germ cell (PGCs)-specific protein involved in epigenetic chromatin reprogramming in the zygote following fertilization. In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in protection of DNA methylation in the maternal pronucleus by preventing conversion of 5mC to 5hmC: specifically recognizes and binds histone H3 dimethylated at 'Lys-9' (H3K9me2) o [...] 9606.ENSP00000339251 KRTDAP 99 Keratinocyte differentiation-associated protein; May act as a soluble regulator of keratinocyte differentiation. May play an important role in embryonic skin morphogenesis 9606.ENSP00000339256 NIPAL2 368 NIPA-like protein 2; NIPA like domain containing 2; Belongs to the NIPA family 9606.ENSP00000339260 SLC6A13 602 Sodium- and chloride-dependent GABA transporter 2; Sodium-dependent GABA and taurine transporter. In presynaptic terminals, regulates GABA signaling termination through GABA uptake. May also be involved in beta-alanine transport; Solute carriers 9606.ENSP00000339280 CCDC30 783 Coiled-coil domain containing 30; Belongs to the prefoldin subunit beta family 9606.ENSP00000339299 TRIO 3097 Triple functional domain protein; Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases. Involved in coordinating actin remodeling, which is necessary for cell migration and growth. In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity); Belongs to the protein kinase su [...] 9606.ENSP00000339314 ZNF70 446 Zinc finger protein 70; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000339324 SMIM15 74 Small integral membrane protein 15 9606.ENSP00000339328 PLAUR 335 Urokinase plasminogen activator surface receptor; Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form; CD molecules 9606.ENSP00000339340 KCTD21 260 BTB/POZ domain-containing protein KCTD21; Probable substrate-specific adapter of a BCR (BTB-CUL3- RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) 9606.ENSP00000339356 KLRG2 409 Killer cell lectin like receptor G2; C-type lectin domain containing 9606.ENSP00000339374 LGALS12 337 Galectin-12; Binds lactose. May participate in the apoptosis of adipocytes; Galectins 9606.ENSP00000339381 RGS12 1447 Regulator of G-protein signaling 12; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form; PDZ domain containing 9606.ENSP00000339384 C2orf66 117 Uncharacterized protein C2orf66; Chromosome 2 open reading frame 66 9606.ENSP00000339389 OTUD6A 288 OTU domain-containing protein 6A; Deubiquitinating enzyme that hydrolyzes 'Lys-27'-, 'Lys- 29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains; OTU domain containing 9606.ENSP00000339390 CDH26 832 Cadherin-like protein 26; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000339398 HLA-DQA1 255 Major histocompatibility complex, class II, DQ alpha 1; Belongs to the MHC class II family 9606.ENSP00000339404 ASCC1 400 Activating signal cointegrator 1 complex subunit 1; Enhances NF-kappa-B, SRF and AP1 transactivation. In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction 9606.ENSP00000339405 TP53TG3B 124 TP53 target 3B; May play a significant role in p53/TP53-mediating signaling pathway 9606.ENSP00000339435 SRR 340 Serine racemase; Catalyzes the synthesis of D-serine from L-serine. D- serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine 9606.ENSP00000339449 WDR16 620 Cilia- and flagella-associated protein 52; May play a role in cell growth and/or survival 9606.ENSP00000339467 RHOG 191 Rho-related GTP-binding protein RhoG; Required for the formation of membrane ruffles during macropinocytosis. Plays a role in cell migration and is required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB and ARHGEF26/SGEF, which induces cytoskeleton rearrangements and promotes bacterial entry; Belongs to the small GTPase superfamily. Rho family 9606.ENSP00000339477 B7RP1 309 Inducible T-cell co-stimulator ligand; Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion; induces also B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co- stimulating memory T-cell function (By similarity); Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000339479 NT5C2 561 Cytosolic purine 5'-nucleotidase; May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides; 5'-nucleotidases 9606.ENSP00000339484 ZFAND4 727 Zinc finger AN1-type containing 4 9606.ENSP00000339495 NELFB 580 Negative elongation factor B; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. Binds RNA which may help to stabilize the NELF complex on nucleic acid. In vitro, binds weakly to the HIV-1 TAR RNA which is located in the long terminal repeat (LT [...] 9606.ENSP00000339511 HYPM 117 Huntingtin interacting protein M 9606.ENSP00000339524 DFFB 362 DNA fragmentation factor subunit beta; Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology 9606.ENSP00000339532 THUMPD3 507 THUMP domain-containing protein 3; Seven-beta-strand methyltransferase motif containing; Belongs to the methyltransferase superfamily 9606.ENSP00000339566 HIST1H1C 213 Histone H1.2; Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity) 9606.ENSP00000339577 RHD 493 Rh blood group D antigen; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily 9606.ENSP00000339585 ZNF449 518 Zinc finger protein 449; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000339587 DFNA5 496 Gasdermin-E; Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 9606.ENSP00000339613 POFUT2 429 GDP-fucose protein O-fucosyltransferase 2; Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type 1 repeats where C1 and C2 are the first and second cysteines, respectively. O-fucosylates members of several protein families including the ADAMTS family, the thrombosporin (TSP) and spondin families. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and l [...] 9606.ENSP00000339621 LCN6 163 Epididymal-specific lipocalin-6; May play a role in male fertility; Lipocalins 9606.ENSP00000339626 SLC35E4 350 Solute carrier family 35 member E4; Putative transporter; Solute carriers 9606.ENSP00000339634 KIR2DL4 342 Killer cell immunoglobulin-like receptor 2DL4; Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis; CD molecules 9606.ENSP00000339637 BRAT1 821 BRCA1-associated ATM activator 1; Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress. Plays a role in regulating mitochondrial function and cell proliferation. Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors 9606.ENSP00000339659 TRIM2 771 Tripartite motif-containing protein 2; UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance; Belongs to the TRIM/RBCC family 9606.ENSP00000339681 FAM78B 261 Protein FAM78B; Family with sequence similarity 78 member B; Belongs to the FAM78 family 9606.ENSP00000339692 RASSF4 321 Ras association domain-containing protein 4; Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest; Ras association domain family 9606.ENSP00000339720 NDUFA4 81 Cytochrome c oxidase subunit NDUFA4; Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance 9606.ENSP00000339723 CIR1 450 Corepressor interacting with RBPJ 1; May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required for RBPJ-mediated repression of transcription 9606.ENSP00000339726 OR14I1 311 Olfactory receptor 14I1; Odorant receptor; Olfactory receptors, family 14 9606.ENSP00000339730 THBS4 961 Thrombospondin-4; Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions and is involved in various processes including cellular proliferation, migration, adhesion and attachment, inflammatory response to CNS injury, regulation of vascular inflammation and adaptive responses of the heart to pressure overload and in myocardial function and remodeling. Binds to structural extracellular matrix (ECM) proteins and modulates the ECM in response to tissue damage, contributing to cardioprotective and adaptive ECM remodeling. Plays a role in ER stress response, via its [...] 9606.ENSP00000339740 CAMK2D 499 Calcium/calmodulin-dependent protein kinase type II subunit delta; Calcium/calmodulin-dependent protein kinase involved in the regulation of Ca(2+) homeostatis and excitation-contraction coupling (ECC) in heart by targeting ion channels, transporters and accessory proteins involved in Ca(2+) influx into the myocyte, Ca(2+) release from the sarcoplasmic reticulum (SR), SR Ca(2+) uptake and Na(+) and K(+) channel transport. Targets also transcription factors and signaling molecules to regulate heart function. In its activated form, is involved in the pathogenesis of dilated cardiomyopath [...] 9606.ENSP00000339754 ARL4C 201 ADP-ribosylation factor-like protein 4C; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. May be involved in transport between a perinuclear compartment and the plasma membrane, apparently linked to the ABCA1-mediated cholesterol secretion pathway. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in the [...] 9606.ENSP00000339764 PRDM8 689 PR domain zinc finger protein 8; Probable histone methyltransferase, preferentially acting on 'Lys-9' of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity); Belongs to the class V-like SAM-binding methyltrans [...] 9606.ENSP00000339767 ZNF433 673 Zinc finger protein 433; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000339787 ACSL4 711 Long-chain-fatty-acid--CoA ligase 4; Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates; Acyl-CoA synthetase family 9606.ENSP00000339795 RPL7 248 60S ribosomal protein L7; Component of the large ribosomal subunit. Binds to G-rich structures in 28S rRNA and in mRNAs. Plays a regulatory role in the translation apparatus; inhibits cell-free translation of mRNAs 9606.ENSP00000339801 IDS 550 Iduronate 2-sulfatase; Required for the lysosomal degradation of heparan sulfate and dermatan sulfate; Sulfatases 9606.ENSP00000339802 ANKRD34B 514 Ankyrin repeat domain-containing protein 34B; Ankyrin repeat domain containing; Belongs to the ANKRD34 family 9606.ENSP00000339804 TSLP 159 Thymic stromal lymphopoietin; Isoform 1: Cytokine that induces the release of T-cell- attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells. Can induce allergic inflammation by directly activating mast cells 9606.ENSP00000339813 TPST2 377 Protein-tyrosine sulfotransferase 2; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate; Sulfotransferases, membrane bound 9606.ENSP00000339820 TSPAN18 248 Tetraspanin-18; Tetraspanin 18; Tetraspanins 9606.ENSP00000339823 ZNF546 836 Zinc finger protein 546; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000339824 FGFR3 808 Fibroblast growth factor receptor 3; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Ph [...] 9606.ENSP00000339826 PIK3AP1 805 Phosphoinositide 3-kinase adapter protein 1; Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activation by providing a docking site for the PI3K subunit PIK3R1. Alternatively, links Toll-like receptor (TLR) signaling to PI3K activation, a process preventing excessive inflammatory cytokine production. Also involved in the activation of PI3K in natural killer cells. May be involved in the survival of [...] 9606.ENSP00000339830 TMEM220 160 Transmembrane protein 220 9606.ENSP00000339834 SNRNP48 339 U11/U12 small nuclear ribonucleoprotein 48 kDa protein; Likely involved in U12-type 5' splice site recognition; U11/U12 di-snRNP 9606.ENSP00000339835 H3F3C 135 Histone H3.3C; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Hominid-specific H3.5/H3F3C preferentially colocalizes with euchromatin, and it is associated with actively transcribed genes 9606.ENSP00000339844 MRPL43 235 Mitochondrial ribosomal protein L43 9606.ENSP00000339850 DPYSL4 572 Dihydropyrimidinase-related protein 4; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity); Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family 9606.ENSP00000339867 CLCN1 988 Chloride channel protein 1; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport; Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily 9606.ENSP00000339881 MIOS 875 GATOR complex protein MIOS; As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex. It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 9606.ENSP00000339883 LBR 615 Lamin-B receptor; Anchors the lamina and the heterochromatin to the inner nuclear membrane; Tudor domain containing 9606.ENSP00000339906 PAX4 343 Paired box protein Pax-4; Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity; PRD class homeoboxes and pseudogenes 9606.ENSP00000339916 LIMK2 686 LIM domain kinase 2; Displays serine/threonine-specific phosphorylation of myelin basic protein and histone (MBP) in vitro; LIM domain containing 9606.ENSP00000339917 TAF9B 251 Transcription initiation factor TFIID subunit 9B; Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription 9606.ENSP00000339918 XRRA1 792 X-ray radiation resistance-associated protein 1; May be involved in the response of cells to X-ray radiation 9606.ENSP00000339933 PKLR 574 Pyruvate kinase PKLR; Plays a key role in glycolysis; Belongs to the pyruvate kinase family 9606.ENSP00000339958 NISCH 1504 Nischarin; Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mit [...] 9606.ENSP00000339971 MROH8 1069 Protein MROH8; Maestro heat like repeat family member 8 9606.ENSP00000339973 TBC1D28 210 TBC1 domain family member 28 9606.ENSP00000339976 TAF1A 450 TATA box-binding protein-associated factor RNA polymerase I subunit A; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre- initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits 9606.ENSP00000339992 MYB 761 Transcriptional activator Myb; Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells; Myb/SANT domain containing 9606.ENSP00000340004 ZNF564 553 Zinc finger protein 564; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000340017 DOC2A 400 Double C2-like domain-containing protein alpha; Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells; Synaptotagmin like tandem C2 proteins 9606.ENSP00000340083 KRCC1 259 Lysine rich coiled-coil 1 9606.ENSP00000340088 THEG 379 Testicular haploid expressed gene protein; May be involved (but not essential) in spermatogenesis 9606.ENSP00000340125 PPP1R17 155 Protein phosphatase 1 regulatory subunit 17; Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes 9606.ENSP00000340132 ZNF383 475 Zinc finger protein 383; May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways; Zinc fingers C2H2-type 9606.ENSP00000340176 RBPMS 219 RNA-binding protein with multiple splicing; Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C- terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins. Binds to poly(A) RNA 9606.ENSP00000340212 TMEM202 273 Transmembrane protein 202 9606.ENSP00000340220 C7orf26 449 Uncharacterized protein C7orf26; Chromosome 7 open reading frame 26 9606.ENSP00000340226 LMX1A 382 LIM homeobox transcription factor 1-alpha; Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity); LIM class homeoboxes 9606.ENSP00000340243 SERINC3 473 Serine incorporator 3; Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm; Belongs to the TDE1 family 9606.ENSP00000340271 TAF3 929 Transcription initiation factor TFIID subunit 3; Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Required in complex with TBPL2 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process; Armadillo-like helical domain containing 9606.ENSP00000340274 RAP2C 183 Ras-related protein Rap-2c; Small GTP-binding protein which cycles between a GDP- bound inactive and a GTP-bound active form. May play a role in cytoskeletal rearrangements and regulate cell spreading through activation of the effector TNIK. May play a role in SRE-mediated gene transcription; RAS type GTPase family 9606.ENSP00000340279 SSX2IP 614 Afadin- and alpha-actinin-binding protein; Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E- cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via a [...] 9606.ENSP00000340292 DLK1 383 Protein delta homolog 1; May have a role in neuroendocrine differentiation 9606.ENSP00000340296 ACSM6 480 Acyl-coenzyme A synthetase ACSM6, mitochondrial; acyl-CoA synthetase medium chain family member 6 9606.ENSP00000340297 ARHGEF10 1344 Rho guanine nucleotide exchange factor 10; May play a role in developmental myelination of peripheral nerves; Rho guanine nucleotide exchange factors 9606.ENSP00000340299 ZDHHC1 485 Probable palmitoyltransferase ZDHHC1; Zinc finger DHHC-type containing 1; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000340305 UBE2V1 170 Ubiquitin-conjugating enzyme E2 variant 1; Has no ubiquitin ligase activity on its own. The UBE2V1- UBE2N heterodimer catalyzes the synthesis of non-canonical poly- ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair [...] 9606.ENSP00000340328 NYX 481 Nyctalopin 9606.ENSP00000340329 CAPRIN1 709 Caprin-1; May regulate the transport and translation of mRNAs of proteins involved in synaptic plasticity in neurons and cell proliferation and migration in multiple cell types. Binds directly and selectively to MYC and CCND2 RNAs. In neuronal cells, directly binds to several mRNAs associated with RNA granules, including BDNF, CAMK2A, CREB1, MAP2, NTRK2 mRNAs, as well as to GRIN1 and KPNB1 mRNAs, but not to rRNAs 9606.ENSP00000340330 KAT5 546 Histone acetyltransferase KAT5; Catalytic subunit of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replica [...] 9606.ENSP00000340347 TCF7 384 Transcription factor 7; Transcriptional activator involved in T-cell lymphocyte differentiation. Necessary for the survival of CD4(+) CD8(+) immature thymocytes. Isoforms lacking the N-terminal CTNNB1 binding domain cannot fulfill this role. Binds to the T- lymphocyte-specific enhancer element (5'-WWCAAAG-3') found in the promoter of the CD3E gene. May also act as feedback transcriptional repressor of CTNNB1 and TCF7L2 target genes. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7 and CTNNB1; TCF/LEF transcription factor family 9606.ENSP00000340361 ACVR2B 512 Activin receptor type-2B; Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to [...] 9606.ENSP00000340402 SLC15A5 579 Solute carrier family 15 member 5; Proton oligopeptide cotransporter; Solute carriers 9606.ENSP00000340409 SMPD1 631 Sphingomyelin phosphodiesterase; Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol 9606.ENSP00000340427 ERMP1 904 Endoplasmic reticulum metallopeptidase 1; Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures 9606.ENSP00000340434 LDOC1L 239 Retrotransposon Gag-like protein 6; Leucine zipper, down-regulated in cancer 1-like 9606.ENSP00000340445 FAM154B 398 Stabilizer of axonemal microtubules 2; Family with sequence similarity 154, member B 9606.ENSP00000340454 RAP1GDS1 608 Rap1 GTPase-GDP dissociation stimulator 1; Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein; Armadillo repeat containing 9606.ENSP00000340465 SLC20A2 652 Sodium-dependent phosphate transporter 2; Sodium-phosphate symporter which seems to play a fundamental housekeeping role in phosphate transport by absorbing phosphate from interstitial fluid for normal cellular functions such as cellular metabolism, signal transduction, and nucleic acid and lipid synthesis. In vitro, sodium-dependent phosphate uptake is not siginificantly affected by acidic and alkaline conditions, however sodium-independent phosphate uptake occurs at acidic conditions. May play a role in extracellular matrix, cartilage and vascular calcification. Functions as a retrov [...] 9606.ENSP00000340466 GANAB 966 Neutral alpha-glucosidase AB; Cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia; Belongs to the glycosyl hydrolase 31 family 9606.ENSP00000340467 LRRC16B 1372 Capping protein, Arp2/3 and myosin-I linker protein 3; Leucine rich repeat containing 16B; Belongs to the CARMIL family 9606.ENSP00000340474 EXD3 876 Exonuclease mut-7 homolog; Possesses 3'-5' exoribonuclease activity. Required for 3'-end trimming of AGO1-bound miRNAs (By similarity) 9606.ENSP00000340494 ZNF395 513 Zinc finger protein 395; Plays a role in papillomavirus genes transcription; Zinc fingers C2H2-type 9606.ENSP00000340505 SENP8 212 Sentrin-specific protease 8; Protease that catalyzes two essential functions in the NEDD8 pathway: processing of full-length NEDD8 to its mature form and deconjugation of NEDD8 from targeted proteins such as cullins or p53; SUMO specific peptidases 9606.ENSP00000340507 TRIM24 1050 Transcription intermediary factor 1-alpha; Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has E3 protein-ubiquitin ligase activity. Promotes ubiquitination and proteasomal degradation of p53/TP53. Plays a role in the regulation of cell proliferation and apoptosis, at least in part via its effects on p53/TP5 [...] 9606.ENSP00000340510 PPL 1756 Periplakin; Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling; Belongs to the plakin or cytolinker family 9606.ENSP00000340514 ZNF14 642 Zinc finger protein 14; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000340519 LRRC37B 947 Leucine-rich repeat-containing protein 37B; Leucine rich repeat containing 37B 9606.ENSP00000340523 NMNAT3 215 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Can also use GTP and ITP as nucleotide donors. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, can use NAD(+), NADH, NaAD, nicotinic acid adenine dinucleotide phosphate (NHD), nicotinamide guanine dinucleo [...] 9606.ENSP00000340526 UTS2B 119 Urotensin-2B; Potent vasoconstrictor; Endogenous ligands 9606.ENSP00000340546 KRTAP4-5 181 Keratin-associated protein 4-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000340568 COX8C 72 Cytochrome c oxidase subunit 8C, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000340578 RASSF6 369 Ras association domain-containing protein 6; Involved in the induction of apoptosis, through both caspase-dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B (By similarity); Ras association domain family 9606.ENSP00000340590 ZCCHC16 310 Retrotransposon Gag-like protein 4; Involved in cognitive function in the brain, possibly via the noradrenergic system 9606.ENSP00000340594 SYDE2 1194 Rho GTPase-activating protein SYDE2; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state; C2 domain containing 9606.ENSP00000340596 UBE3B 1068 Ubiquitin-protein ligase E3B; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 9606.ENSP00000340608 SGK2 427 Serine/threonine-protein kinase Sgk2; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, survival and proliferation. Up- regulates Na(+) channels: SCNN1A/ENAC, K(+) channels: KCNA3/Kv1.3, KCNE1 and KCNQ1, amino acid transporter: SLC6A19, glutamate transporter: SLC1A6/EAAT4, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase 9606.ENSP00000340609 DUPD1 220 Dual specificity phosphatase DUPD1; Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate 9606.ENSP00000340610 POTEH 545 POTE ankyrin domain family member H 9606.ENSP00000340644 C15orf43 220 Telomere repeats-binding bouquet formation protein 2; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and [...] 9606.ENSP00000340648 HUWE1 4374 E3 ubiquitin-protein ligase HUWE1; E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and pro [...] 9606.ENSP00000340660 ELSPBP1 223 Epididymal sperm-binding protein 1; Binds to spermatozoa upon ejaculation and may play a role in sperm capacitation. Has phosphorylcholine-binding activity (By similarity); Belongs to the seminal plasma protein family 9606.ENSP00000340668 TMEM248 314 Transmembrane protein 248 9606.ENSP00000340672 ARMCX3 379 Armadillo repeat-containing X-linked protein 3; Regulates mitochondrial aggregation and transport in axons in living neurons. May link mitochondria to the TRAK2- kinesin motor complex via its interaction with Miro and TRAK2. Mitochondrial distribution and dynamics is regulated through ARMCX3 protein degradation, which is promoted by PCK and negatively regulated by WNT1. Enhances the SOX10-mediated transactivation of the neuronal acetylcholine receptor subunit alpha-3 and beta-4 subunit gene promoters; Armadillo repeat containing 9606.ENSP00000340677 WNT8B 351 Protein Wnt-8b; Ligand for members of the frizzled family of seven transmembrane receptors. May play an important role in the development and differentiation of certain forebrain structures, notably the hippocampus 9606.ENSP00000340683 ZNF823 610 Zinc finger protein 823; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000340684 MAOA 527 Amine oxidase [flavin-containing] A; Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine; Belongs to the flavin monoamine oxidase family 9606.ENSP00000340688 LPHN1 1474 Adhesion G protein-coupled receptor L1; Calcium-independent receptor of high affinity for alpha- latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity) 9606.ENSP00000340691 EIF4EBP1 118 Eukaryotic translation initiation factor 4E-binding protein 1; Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways 9606.ENSP00000340736 GYG1 350 Glycogenin-1; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase; Glycosyltransferase family 8 9606.ENSP00000340748 OR13H1 308 Olfactory receptor 13H1; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000340761 BRI3BP 251 BRI3-binding protein; Involved in tumorigenesis and may function by stabilizing p53/TP53 9606.ENSP00000340776 CCDC108 1925 Cilia- and flagella-associated protein 65; May play a role in sperm motility; Belongs to the CFAP65 family 9606.ENSP00000340796 ZNF326 582 DBIRD complex subunit ZNF326; Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. May play a role in neuronal differentiation and is able to bind DNA and activate expression in vitro; Zinc fingers C2H2-type 9606.ENSP00000340811 GJB5 273 Gap junction beta-5 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell 9606.ENSP00000340820 MAPT 776 Microtubule-associated protein tau; Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. The C-terminus binds axonal microtubules while the N- terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both. Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its s [...] 9606.ENSP00000340823 GTF2F2 249 General transcription factor IIF subunit 2; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation. This subunit shows ATP-dependent DNA- helicase activity 9606.ENSP00000340836 OSTF1 214 Osteoclast-stimulating factor 1; Induces bone resorption, acting probably through a signaling cascade which results in the secretion of factor(s) enhancing osteoclast formation and activity; Ankyrin repeat domain containing 9606.ENSP00000340839 ZC3H12B 836 Probable ribonuclease ZC3H12B; May function as RNase and regulate the levels of target RNA species; Zinc fingers CCCH-type 9606.ENSP00000340841 ZNF621 439 Zinc finger protein 621; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000340864 C1QTNF1 281 Complement C1q tumor necrosis factor-related protein 1; C1q and TNF related 1 9606.ENSP00000340874 MEF2C 483 Myocyte-specific enhancer factor 2C; Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle- specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes a [...] 9606.ENSP00000340887 C5orf47 176 Uncharacterized protein C5orf47; Chromosome 5 open reading frame 47 9606.ENSP00000340896 ASH2L 628 Set1/Ash2 histone methyltransferase complex subunit ASH2; Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis; PHD finger proteins 9606.ENSP00000340900 MIA3 1907 Transport and Golgi organization protein 1 homolog; Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein s [...] 9606.ENSP00000340913 TRPC6 931 Short transient receptor potential channel 6; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion; Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily 9606.ENSP00000340914 SYT3 590 Synaptotagmin-3; Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain. Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). Plays a role in dendrite formation by melanocytes; Synaptotagmins 9606.ENSP00000340935 DMP1 513 Dentin matrix acidic phosphoprotein 1; May have a dual function during osteoblast differentiation. In the nucleus of undifferentiated osteoblasts, unphosphorylated form acts as a transcriptional component for activation of osteoblast-specific genes like osteocalcin. During the osteoblast to osteocyte transition phase it is phosphorylated and exported into the extracellular matrix, where it regulates nucleation of hydroxyapatite; SIBLING family 9606.ENSP00000340937 COL17A1 1497 Collagen alpha-1(XVII) chain; May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane; Collagens 9606.ENSP00000340943 CRHR2 438 Corticotropin-releasing factor receptor 2; G-protein coupled receptor for CRH (corticotropin- releasing factor), UCN (urocortin), UCN2 and UCN3. Has high affinity for UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels 9606.ENSP00000340944 PTPN11 593 Tyrosine-protein phosphatase non-receptor type 11; Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus. Positively regulates MAPK signal transduction pathway. Dephosphorylates GAB1, ARHGAP35 and EGFR. Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulatation of its RhoA binding activity. Dephosphorylates CDC73; Protein tyrosine phosphatases, non-receptor type 9606.ENSP00000340954 CNBD2 572 Cyclic nucleotide-binding domain-containing protein 2; Essential for male fertility. Plays an important role in spermatogenesis and regulates sperm motility by controlling the development of the flagellar bending of sperm 9606.ENSP00000340975 SOWAHD 315 Ankyrin repeat domain-containing protein SOWAHD; Sosondowah ankyrin repeat domain family member D; Belongs to the SOWAH family 9606.ENSP00000340979 RNF175 328 Ring finger protein 175 9606.ENSP00000340982 SPAG8 501 Sperm-associated antigen 8; Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau to its coactivator FHL5 and increasing the FHL5-regulated transcriptional activation of CREM isoform tau (By similarity). Involved in the acrosome reaction and in binding of sperm to the zona pellucida (By similarity). Plays a role in regulation of the cell cycle by controlling progression through the G2/M phase, possibly by delaying the activation of CDK1 which is required for entry into mitosis. May play a role in fertility and microtubule formation through interaction with RANBP9 [...] 9606.ENSP00000340983 LRRC25 305 Leucine-rich repeat-containing protein 25; May be involved in the activation of cells of innate and acquired immunity 9606.ENSP00000340988 LDLRAD2 272 Low density lipoprotein receptor class A domain containing 2 9606.ENSP00000340989 SFN 248 14-3-3 protein sigma; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53; Belongs to the 14-3-3 family 9606.ENSP00000340998 NTN4 628 Netrin-4; May play an important role in neural, kidney and vascular development. Promotes neurite elongation from olfactory bulb explants; Netrins 9606.ENSP00000341013 AMTN 209 Amelotin; Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis 9606.ENSP00000341021 NANOS2 138 Nanos homolog 2; Plays a key role in the sexual differentiation of germ cells by promoting the male fate but suppressing the female fate. Represses the female fate pathways by suppressing meiosis, which in turn results in the promotion of the male fate. Maintains the suppression of meiosis by preventing STRA8 expression, which is required for premeiotic DNA replication, after CYP26B1 is decreased. Regulates the localization of the CCR4-NOT deadenylation complex to P-bodies and plays a role in recruiting the complex to trigger the degradation of mRNAs involved in meiosis. Required for t [...] 9606.ENSP00000341030 CSN2 226 Beta-casein; Important role in determination of the surface properties of the casein micelles; Belongs to the beta-casein family 9606.ENSP00000341031 TPRG1 275 Tumor protein p63 regulated 1; Belongs to the TPRG1 family 9606.ENSP00000341032 WNT7B 349 Protein Wnt-7b; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity); Endogenous ligands 9606.ENSP00000341044 ACACB 2458 Acetyl-CoA carboxylase 2; Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl- CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity) 9606.ENSP00000341045 UGT2B15 530 UDP-glucuronosyltransferase 2B15; UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000341051 CLEC18B 455 C-type lectin domain family 18 member B; Binds polysaccharides in a Ca(2+)-independent manner (By similarity); C-type lectin domain containing 9606.ENSP00000341071 ARHGEF3 558 Rho guanine nucleotide exchange factor 3; Acts as guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases 9606.ENSP00000341082 MRPL20 149 Mitochondrial ribosomal protein L20 9606.ENSP00000341083 NPR2 1047 Atrial natriuretic peptide receptor 2; Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth; DENN/MADD domain containing 9606.ENSP00000341094 HIST1H2AD 130 Histone H2A type 1-D; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000341108 HMX2 273 Homeobox protein HMX2; Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000341139 C3orf62 267 Uncharacterized protein C3orf62; Chromosome 3 open reading frame 62 9606.ENSP00000341141 SIGLEC1 1709 Sialoadhesin; Acts as an endocytic receptor mediating clathrin dependent endocytosis. Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Preferentially binds to alpha-2,3-linked sialic acid (By similarity). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis; C2-set domain containing 9606.ENSP00000341159 CERKL 558 Ceramide kinase-like protein; Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions 9606.ENSP00000341165 ZNF772 489 Zinc finger protein 772; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000341170 PTN 168 Pleiotrophin; Secreted growth factor that induces neurite outgrowth and which is mitogenic for fibroblasts, epithelial, and endothelial cells. Binds anaplastic lymphoma kinase (ALK) which induces MAPK pathway activation, an important step in the anti-apoptotic signaling of PTN and regulation of cell proliferation. Binds to cell-surface target proteins via their chondroitin sulfate groups. Down-regulates PTPRZ1 activity; Belongs to the pleiotrophin family 9606.ENSP00000341171 MTSS1L 747 MTSS1-like protein; Involved in plasma membrane dynamics. Potentiated PDGF- mediated formation of membrane ruffles and lamellipodia in fibroblasts, acting via RAC1 activation. May function in actin bundling; Belongs to the MTSS1 family 9606.ENSP00000341178 C15orf62 175 Uncharacterized protein C15orf62, mitochondrial; Chromosome 15 open reading frame 62 9606.ENSP00000341189 PTK2 1065 Focal adhesion kinase 1; Non-receptor protein-tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle progression, cell proliferation and apoptosis. Required for early embryonic development and placenta development. Required for embryonic angiogenesis, normal cardiomyocyte migration and proliferation, and normal heart development. Regulates axon growth and neuronal cell migration, axon branching and synapse formation; required f [...] 9606.ENSP00000341198 NEO1 1461 Neogenin; Multi-functional cell surface receptor regulating cell adhesion in many diverse developmental processes, including neural tube and mammary gland formation, myogenesis and angiogenesis. Receptor for members of the BMP, netrin, and repulsive guidance molecule (RGM) families. Netrin-Neogenin interactions result in a chemoattractive axon guidance response and cell-cell adhesion, the interaction between NEO1/Neogenin and RGMa and RGMb induces a chemorepulsive response; Belongs to the immunoglobulin superfamily. DCC family 9606.ENSP00000341206 CHST4 386 Carbohydrate sulfotransferase 4; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within mucin-associated glycans that ultimately serve as SELL ligands. SELL ligands are present in high endothelial cells (HEVs) and play a central role in lymphocyte homing at sites of inflammation. Participates in biosynthesis of the SELL ligand sialyl 6-sulfo Lewis X on receptors SPN/CD43, GLYCAM1 and MADCAM1. Also involved in biosynthesis of SELL ligand recogni [...] 9606.ENSP00000341208 STAT5A 794 Signal transducer and activator of transcription 5A; Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL-induced transcription. Regulates the expression of milk proteins during lactation; SH2 domain containing 9606.ENSP00000341213 C20orf24 143 Uncharacterized protein C20orf24; Chromosome 20 open reading frame 24 9606.ENSP00000341214 HIST1H1T 207 Histone H1t; Testis-specific histone H1 that forms less compacted chromatin compared to other H1 histone subtypes. Formation of more relaxed chromatin may be required to promote chromatin architecture required for proper chromosome regulation during meiosis, such as homologous recombination. Histones H1 act as linkers that bind to nucleosomes and compact polynucleosomes into a higher-order chromatin configuration (Probable) 9606.ENSP00000341219 CECR2 1484 Cat eye syndrome critical region protein 2; Chromatin reader component of histone-modifying complexes, such as the CERF (CECR2-containing-remodeling factor) complex and ISWI-type complex. It thereby plays a role in various processes during development: required during embryogenesis for neural tube closure and inner ear development. In adults, required for spermatogenesis, via the formation of ISWI-type chromatin complexes (By similarity). In histone-modifying complexes, CECR2 recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated. May also be invo [...] 9606.ENSP00000341236 ZNF695 515 Zinc finger protein 695; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000341243 RBPJL 517 Recombining binding protein suppressor of hairless-like protein; Putative transcription factor, which cooperates with EBNA2 to activate transcription; Belongs to the Su(H) family 9606.ENSP00000341247 GSPT2 628 Eukaryotic peptide chain release factor GTP-binding subunit ERF3B; Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons 9606.ENSP00000341268 TRADD 312 Tumor necrosis factor receptor type 1-associated DEATH domain protein; The nuclear form acts as a tumor suppressor by preventing ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A by TRIP12: acts by interacting with TRIP12, leading to disrupt interaction between TRIP12 and isoform p19ARF/ARF of CDKN2A (By similarity). Adapter molecule for TNFRSF1A/TNFR1 that specifically associates with the cytoplasmic domain of activated TNFRSF1A/TNFR1 mediating its interaction with FADD. Overexpression of TRADD leads to two major TNF-induced responses, apoptosis and activation of NF-kappa-B 9606.ENSP00000341280 JARID2 1246 Protein Jumonji; Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis. Acts by modulating histone methyltransferase activity and promoting the recruitment of histone methyltransferase complexes to their target genes. Binds DNA and mediates the recruitment of the PRC2 complex to target genes in embryonic stem cells. Does not have histone demethylase activity but regulates activity of various histone methyltransferase complexes. In embryonic stem cells, i [...] 9606.ENSP00000341282 SYCE1 351 Synaptonemal complex central element protein 1; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination 9606.ENSP00000341289 TUBB4B 445 Tubulin beta-4B chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Belongs to the tubulin family 9606.ENSP00000341291 OR2G6 316 Olfactory receptor 2G6; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000341292 WNK1 2634 Serine/threonine-protein kinase WNK1; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thia [...] 9606.ENSP00000341324 SRFBP1 429 Serum response factor-binding protein 1; May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity) 9606.ENSP00000341342 KLHL6 621 Kelch-like protein 6; Involved in B-lymphocyte antigen receptor signaling and germinal center formation; BTB domain containing 9606.ENSP00000341344 GGA1 639 ADP-ribosylation factor-binding protein GGA1; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif 9606.ENSP00000341346 TEKT1 418 Tektin-1; Structural component of ciliary and flagellar microtubules. Forms filamentous polymers in the walls of ciliary and flagellar microtubules; Belongs to the tektin family 9606.ENSP00000341351 DCAF5 942 DDB1- and CUL4-associated factor 5; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000341360 COBLL1 1166 Cordon-bleu WH2 repeat protein like 1 9606.ENSP00000341361 RNF13 381 E3 ubiquitin-protein ligase RNF13; E3 ubiquitin-protein ligase that may play a role in controlling cell proliferation; Ring finger proteins 9606.ENSP00000341364 TMEM230 183 Transmembrane protein 230; Involved in trafficking and recycling of synaptic vesicles; Belongs to the TMEM134/TMEM230 family 9606.ENSP00000341368 C6orf132 1188 Uncharacterized protein C6orf132; Chromosome 6 open reading frame 132 9606.ENSP00000341412 PLET1 207 Placenta-expressed transcript 1 protein; Modulates leading keratinocyte migration and cellular adhesion to matrix proteins during a wound-healing response and promotes wound repair. May play a role during trichilemmal differentiation of the hair follicle (By similarity) 9606.ENSP00000341422 P4HTM 563 Transmembrane prolyl 4-hydroxylase; Catalyzes the post-translational formation of 4- hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex 9606.ENSP00000341442 SNTN 147 Sentan; May be a component of the linker structure that bridges the ciliary membrane and peripheral singlet microtubules 9606.ENSP00000341483 RANBP3 567 Ran-binding protein 3; Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF- beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export 9606.ENSP00000341489 SYDE1 735 Rho GTPase-activating protein SYDE1; GTPase activator for the Rho-type GTPases. As a GCM1 downstream effector, it is involved in placental development and positively regulates trophoblast cells migration. It regulates cytoskeletal remodeling by controlling the activity of Rho GTPases including RHOA, CDC42 and RAC1 9606.ENSP00000341490 ISM2 571 Isthmin-2; Isthmin 2 9606.ENSP00000341524 SEPT6 434 Septin-6; Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation; Septins 9606.ENSP00000341528 ZNF34 560 Zinc finger protein 34; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000341539 TCAIM 496 T-cell activation inhibitor, mitochondrial; May regulate T-cell apoptosis 9606.ENSP00000341549 KLHL33 533 Kelch-like protein 33; Kelch like family member 33 9606.ENSP00000341550 SLC24A5 500 Sodium/potassium/calcium exchanger 5; Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium- Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+); Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily 9606.ENSP00000341551 SMAD4 552 Mothers against decapentaplegic homolog 4; In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By s [...] 9606.ENSP00000341562 B4GALNT1 533 Beta-1,4 N-acetylgalactosaminyltransferase 1; Involved in the biosynthesis of gangliosides GM2, GD2 and GA2; Beta 4-glycosyltransferases 9606.ENSP00000341564 PAQR9 377 Membrane progestin receptor epsilon; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(s) mediated pathway. May be involved in regulating rapid P4 signaling in the nervous system. Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone; Progestin and adipoQ receptor family 9606.ENSP00000341565 FAM111B 734 Protein FAM111B; Family with sequence similarity 111 member B; Belongs to the FAM111 family 9606.ENSP00000341581 OR52B6 335 Olfactory receptor 52B6; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000341584 SERPINB13 391 Serpin B13; May play a role in the proliferation or differentiation of keratinocytes; Belongs to the serpin family. Ov-serpin subfamily 9606.ENSP00000341597 FAM114A2 505 Protein FAM114A2; Family with sequence similarity 114 member A2; Belongs to the FAM114 family 9606.ENSP00000341610 C15orf48 83 Normal mucosa of esophagus-specific gene 1 protein; Chromosome 15 open reading frame 48; Belongs to the complex I NDUFA4 subunit family 9606.ENSP00000341625 CYB5A 134 Cytochrome b5; Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases 9606.ENSP00000341637 NCR3LG1 454 Natural cytotoxicity triggering receptor 3 ligand 1; Triggers NCR3-dependent natural killer cell activation; C1-set domain containing 9606.ENSP00000341640 COL9A3 684 Collagen alpha-3(IX) chain; Structural component of hyaline cartilage and vitreous of the eye; Collagen proteoglycans 9606.ENSP00000341657 THYN1 225 Thymocyte nuclear protein 1; Specifically binds 5-hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC 9606.ENSP00000341658 DUSP15 235 Dual specificity protein phosphatase 15; May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6; Atypical dual specificity phosphatases 9606.ENSP00000341662 AGMO 445 Alkylglycerol monooxygenase; Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes; Fatty acid hydroxylase domain containing 9606.ENSP00000341677 TPD52L3 140 Tumor protein D52 like 3 9606.ENSP00000341680 DTNBP1 351 Dysbindin; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role i [...] 9606.ENSP00000341684 CCDC15 951 Coiled-coil domain containing 15 9606.ENSP00000341737 NECAP1 275 Adaptin ear-binding coat-associated protein 1; Involved in endocytosis; Belongs to the NECAP family 9606.ENSP00000341743 ENSA 137 Alpha-endosulfine; Endosulfine alpha 9606.ENSP00000341762 BSPH1 132 Binder of sperm protein homolog 1; Binds sperm in vitro and promotes sperm capacitation. Specifically promotes capacitation induced by high density lipoproteins (HDLs). Also binds heparin, phospholipid liposomes, and weakly to gelatin. Does not bind chondroitin sulfate B 9606.ENSP00000341765 SPATA16 569 Spermatogenesis-associated protein 16; Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and sperm-egg fusion 9606.ENSP00000341779 PPP1CC 337 Serine/threonine-protein phosphatase PP1-gamma catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Dephosphorylates RPS6KB1. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density- asso [...] 9606.ENSP00000341785 ADIPOR1 375 Adiponectin receptor protein 1; Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism. Required for normal glucose and fat homeostasis and for maintaining a normal body weight. ADIPOQ-binding activates a signaling cascade that leads to increased AMPK activity, and ultimately to increased fatty acid oxidation, increased glucose uptake and decreased gluconeogenesis. Has high affinity for globular adiponectin and low affinity for full-length adiponectin (By similarity); Belongs to the ADIPOR family 9606.ENSP00000341787 BTNL3 466 Butyrophilin-like protein 3; V-set domain containing; Butyrophilins 9606.ENSP00000341803 TCTEX1D4 221 Tctex1 domain containing 4 9606.ENSP00000341805 PHF10 498 PHD finger protein 10; Involved in transcription activity regulation by chromatin remodeling. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. [...] 9606.ENSP00000341815 SOX18 384 Transcription factor SOX-18; Binds to the consensus sequence 5'-AACAAAG-3' and is able to trans-activate transcription via this site; SRY-boxes 9606.ENSP00000341819 VWC2 325 Brorin; BMP antagonist which may play a role in neural development. Promotes cell adhesion (By similarity) 9606.ENSP00000341821 FPR3 353 N-formyl peptide receptor 3; Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system 9606.ENSP00000341826 HNRNPA1 372 Heterogeneous nuclear ribonucleoprotein A1; Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection. May bind to specific miRNA hairpins; RNA binding motif containing 9606.ENSP00000341838 TNNI3 210 Troponin I, cardiac muscle; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity 9606.ENSP00000341843 ETV7 341 Transcription factor ETV7; Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity; Belongs to the ETS family 9606.ENSP00000341867 SH2D6 175 SH2 domain containing 6 9606.ENSP00000341874 RIOK3 519 Serine/threonine-protein kinase RIO3; Involved in regulation of type I interferon (IFN)- dependent immune response which plays a critical role in the innate immune response against DNA and RNA viruses. May act as an adapter protein essential for the recruitment of TBK1 to IRF3. Phosphorylates IFIH1 on 'Ser-828' interfering with IFIH1 filament assembly on long dsRNA and resulting in attenuated IFIH1-signaling. Can inhibit CASP10 isoform 7-mediated activation of the NF-kappaB signaling pathway. May play a role in the biogenesis of the 40S ribosomal subunit. Involved in the processing of [...] 9606.ENSP00000341885 RPS2 293 Ribosomal protein S2 9606.ENSP00000341905 RASAL3 1011 RAS protein activator like-3; Functions as a Ras GTPase-activating protein. Plays an important role in the expansion and functions of natural killer T (NKT) cells in the liver by negatively regulating RAS activity and the down-stream ERK signaling pathway; C2 and RasGAP domain containing 9606.ENSP00000341911 PALM 387 Paralemmin-1; Involved in plasma membrane dynamics and cell process formation. Isoform 1 and isoform 2 are necessary for axonal and dendritic filopodia induction, for dendritic spine maturation and synapse formation in a palmitoylation-dependent manner 9606.ENSP00000341914 PTCHD4 846 Patched domain-containing protein 4; Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down- regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells; Belongs to the patched family 9606.ENSP00000341938 SUMF2 358 Sulfatase-modifying factor 2; Lacks formyl-glycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1 9606.ENSP00000341940 CAV3 151 Caveolin-3; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae 9606.ENSP00000341942 ATP13A5 1218 Probable cation-transporting ATPase 13A5; ATPase orphan transporters; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily 9606.ENSP00000341944 LRRC66 880 Leucine-rich repeat-containing protein 66; Leucine rich repeat containing 66 9606.ENSP00000341947 LIN54 749 Protein lin-54 homolog; Component of the DREAM complex, a multiprotein complex that can both act as a transcription activator or repressor depending on the context. In G0 phase, the complex binds to more than 800 promoters and is required for repression of E2F target genes. In S phase, the complex selectively binds to the promoters of G2/M genes whose products are required for mitosis and participates in their cell cycle dependent activation. In the complex, acts as a DNA- binding protein that binds the promoter of CDK1 in a sequence- specific manner. Specifically recognizes the consen [...] 9606.ENSP00000341957 TP53BP2 1134 Apoptosis-stimulating of p53 protein 2; Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Inhibits the ability of APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1 ability to induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its interaction with DDX42; Belongs to the ASPP family 9606.ENSP00000341961 FOXD4L3 417 Forkhead box D4 like 3 9606.ENSP00000341963 RSC1A1 617 Regulatory solute carrier protein family 1 member 1; Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network 9606.ENSP00000341987 OR51I2 312 Olfactory receptor 51I2; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000341988 SPATA31D1 1576 Spermatogenesis-associated protein 31D1; May play a role in spermatogenesis 9606.ENSP00000341992 NANOS3 192 Nanos homolog 3; Plays a role in the maintenance of the undifferentiated state of germ cells regulating the spermatogonia cell cycle and inducing a prolonged transit in G1 phase. Affects cell proliferation probably by repressing translation of specific mRNAs. Maintains the germ cell lineage by suppressing both Bax- dependent and -independent apoptotic pathways. Essential in the early stage embryo to protect the migrating primordial germ cells (PGCs) from apoptosis; Zinc fingers C2HC-type 9606.ENSP00000342002 ZNF93 620 Zinc finger protein 93; Transcription factor specifically required to repress long interspersed nuclear element 1 (L1) retrotransposons: recognizes and binds L1 sequences and repress their expression by recruiting a repressive complex containing TRIM28/KAP1. Not able to repress expression of all subtypes of L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6 subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or older subtypes nor at the most recently evolved L1PA2 and L1Hs. 50% of L1PA3 elements have lost the ZNF93-binding site, explaining why ZNF93 is not able to repress [...] 9606.ENSP00000342007 CYP1A2 516 Cytochrome P450 1A2; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Most active in catalyzing 2-hydroxylation. Caffeine is metabolized primarily by cytochrome CYP1A2 in the liver through an initial N3-demethylation. Also acts in the metabolism of aflatoxin B1 and acetaminophen. Participates in the bioactivation of carcinogenic aromatic and heterocyclic amines. Catalizes [...] 9606.ENSP00000342008 OR2T27 317 Olfactory receptor 2T27; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000342012 DMKN 476 Dermokine; May act as a soluble regulator of keratinocyte differentiation 9606.ENSP00000342015 COX19 90 Cytochrome c oxidase assembly protein COX19; May be required for the assembly of mitochondrial cytochrome c oxidase; Mitochondrial respiratory chain complex assembly factors 9606.ENSP00000342019 ZNF189 626 Zinc finger protein 189; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000342026 PRDX6 224 Peroxiredoxin-6; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. Also has phospholipase activity, and can therefore either reduce the oxidized sn-2 fatty acyl grup of phospholipids (peroxidase activity) or hydrolyze the sn-2 ester bond of phospholipids (phospholipase activity). These activities are dependent on binding to phospholipids at acidic pH and to oxidized phospholipds at cytosolic pH. Plays a role [...] 9606.ENSP00000342056 CS 466 Citrate synthase, mitochondrial; Citrate synthase 9606.ENSP00000342075 SIMC1 457 SUMO-interacting motif-containing protein 1; SUMO interacting motifs containing 1 9606.ENSP00000342082 SLPI 132 Antileukoproteinase; Acid-stable proteinase inhibitor with strong affinities for trypsin, chymotrypsin, elastase, and cathepsin G. Modulates the inflammatory and immune responses after bacterial infection, and after infection by the intracellular parasite L.major. Down-regulates responses to bacterial lipopolysaccharide (LPS) (By similarity). Plays a role in regulating the activation of NF-kappa-B and inflammatory responses. Has antimicrobial activity against mycobacteria, but not against salmonella. Contributes to normal resistance against infection by M.tuberculosis. Required for nor [...] 9606.ENSP00000342098 SPINT1 529 Kunitz-type protease inhibitor 1; Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14) 9606.ENSP00000342105 DYRK2 601 Dual specificity tyrosine-phosphorylation-regulated kinase 2; Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth. Functions in part via its role in ubiquitin-dependent proteasomal protein degradation. Functions downstream of ATM and phosphorylates p53/TP53 at 'Ser-46', and thereby contributes to the induction of apoptosis in response to DNA damage. Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity. Phosp [...] 9606.ENSP00000342109 SERPINA12 414 Serpin A12; Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues; Serpin peptidase inhibitors 9606.ENSP00000342114 ICAM4 272 Intercellular adhesion molecule 4; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM4 is also a ligand for alpha-4/beta-1 and alpha-V integrins; Blood group antigens 9606.ENSP00000342118 HHIPL2 724 HHIP-like protein 2; HHIP like 2; Belongs to the HHIP family 9606.ENSP00000342136 CREB3 371 Cyclic AMP-responsive element-binding protein 3; Endoplasmic reticulum (ER)-bound transcription factor that plays a role in the unfolded protein response (UPR). Involved in cell proliferation and migration, tumor suppression and inflammatory gene expression. Plays also a role in the human immunodeficiency virus type 1 (HIV-1) virus protein expression and in the herpes simplex virus-1 (HSV-1) latent infection and reactivation from latency. Isoform 2 plays a role in the unfolded protein response (UPR). Isoform 2 acts as a positive regulator of LKN-1/CCL15-induced chemotaxis signaling of [...] 9606.ENSP00000342137 NCCRP1 275 F-box only protein 50; Promotes cell proliferation 9606.ENSP00000342144 EVC2 1308 Limbin; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis 9606.ENSP00000342148 TMEM167B 74 Protein kish-B; Involved in the early part of the secretory pathway 9606.ENSP00000342156 NCR3 201 Natural cytotoxicity triggering receptor 3; Cell membrane receptor of natural killer/NK cells that is activated by binding of extracellular ligands including BAG6 and NCR3LG1. Stimulates NK cells cytotoxicity toward neighboring cells producing these ligands. It controls, for instance, NK cells cytotoxicity against tumor cells. Engagement of NCR3 by BAG6 also promotes myeloid dendritic cells (DC) maturation, both through killing DCs that did not acquire a mature phenotype, and inducing the release by NK cells of TNFA and IFNG which promote DC maturation; CD molecules 9606.ENSP00000342162 TMEM221 291 Transmembrane protein 221 9606.ENSP00000342169 TEX9 391 Testis-expressed protein 9; Testis expressed 9 9606.ENSP00000342181 SRP72 671 Signal recognition particle subunit SRP72; Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function; Belongs to the SRP72 family 9606.ENSP00000342188 LRRIQ4 560 Leucine rich repeats and IQ motif containing 4 9606.ENSP00000342197 BTNL8 500 Butyrophilin-like protein 8; May stimulate primary immune response. Acts on T-cell stimulated sub-optimally through the TCR/CD3 complex stimulating their proliferation and cytokine production; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000342215 KIR2DL3 341 Killer cell immunoglobulin-like receptor 2DL3; Receptor on natural killer (NK) cells for HLA-C alleles (HLA-Cw1, HLA-Cw3 and HLA-Cw7). Inhibits the activity of NK cells thus preventing cell lysis; CD molecules 9606.ENSP00000342216 ABCA9 1624 ATP-binding cassette sub-family A member 9; May play a role in monocyte differentiation and lipid homeostasis; Belongs to the ABC transporter superfamily. ABCA family 9606.ENSP00000342222 TRPV2 764 Transient receptor potential cation channel subfamily V member 2; Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH; Ankyrin repeat domain containing 9606.ENSP00000342235 ERBB4 1308 Receptor tyrosine-protein kinase erbB-4; Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal [...] 9606.ENSP00000342240 XAGE5 108 X antigen family member 5; Belongs to the GAGE family 9606.ENSP00000342254 C15orf61 157 Uncharacterized protein C15orf61; Chromosome 15 open reading frame 61 9606.ENSP00000342262 NUP43 380 Nucleoporin Nup43; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation; Nucleoporins 9606.ENSP00000342267 SLC25A15 301 Mitochondrial ornithine transporter 1; Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix; Solute carriers 9606.ENSP00000342278 OAS2 719 2'-5'-oligoadenylate synthase 2; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition [...] 9606.ENSP00000342295 ANKRD55 614 Ankyrin repeat domain-containing protein 55; Ankyrin repeat domain containing 9606.ENSP00000342307 FOXM1 801 Forkhead box protein M1; Transcriptional factor regulating the expression of cell cycle genes essential for DNA replication and mitosis. Plays a role in the control of cell proliferation. Plays also a role in DNA breaks repair participating in the DNA damage checkpoint response; Forkhead boxes 9606.ENSP00000342313 SAMD11 681 Sterile alpha motif domain-containing protein 11; May play a role in photoreceptor development; Sterile alpha motif domain containing 9606.ENSP00000342322 TM7SF3 570 Transmembrane 7 superfamily member 3; Involved in the inhibition of cytokine-induced death of pancreatic beta cells. Involved in the promotion of insulin secretion from pancreatic beta cells. Is a downstream transcriptional target of p53/TP53, and acts as a pro- survival homeostatic factor that attenuates the development of cellular stress. Maintains protein homeostasis and promotes cell survival through attenuation of endoplasmic reticulum (ER) stress and the subsequent induction of unfolded protein response (UPR) 9606.ENSP00000342331 C10orf32 106 BLOC-1-related complex subunit 7; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor; Belongs to the BORCS7 family 9606.ENSP00000342336 FAM180A 173 Protein FAM180A; Family with sequence similarity 180 member A 9606.ENSP00000342344 CCNYL1 308 Cyclin-Y-like protein 1; Cyclin Y like 1; Belongs to the cyclin family 9606.ENSP00000342356 OSTN 133 Osteocrin; Hormone that acts as a regulator of dendritic growth in the developing cerebral cortex in response to sensory experience. Induced in the brain following membrane depolarization and inhibits dendritic branching in neurons of the developing cortex. Probably acts by binding to natriuretic peptide receptor NPR3/NPR-C, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (By similarity); Belongs to the Osteocrin family 9606.ENSP00000342374 SNRPD2 118 Small nuclear ribonucleoprotein Sm D2; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP 9606.ENSP00000342385 PTGES 152 Prostaglandin E synthase; Catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2); Belongs to the MAPEG family 9606.ENSP00000342392 MESP2 397 Mesoderm posterior protein 2; Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together w [...] 9606.ENSP00000342411 NRN1L 165 Neuritin-like protein; Neuritin 1 like 9606.ENSP00000342434 BAZ1B 1483 Tyrosine-protein kinase BAZ1B; Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates [...] 9606.ENSP00000342448 OR5W2 310 Olfactory receptor 5W2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000342481 ATP9A 1047 Probable phospholipid-transporting ATPase IIA; ATPase phospholipid transporting 9A 9606.ENSP00000342499 TSTD2 516 Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2; Thiosulfate sulfurtransferase like domain containing 2 9606.ENSP00000342502 PYCR2 320 Pyrroline-5-carboxylate reductase 2; Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH. Involved in cellular response to oxidative stress 9606.ENSP00000342510 CEP97 865 Centrosomal protein of 97 kDa; Acts as a key negative regulator of ciliogenesis in collaboration with CCP110 by capping the mother centriole thereby preventing cilia formation. Required for recruitment of CCP110 to the centrosome 9606.ENSP00000342513 IFI6 138 Interferon alpha inducible protein 6 9606.ENSP00000342518 SLC35F4 521 Solute carrier family 35 member F4; Putative solute transporter 9606.ENSP00000342538 STMN4 216 Stathmin-4; Stathmin 4; Stathmins 9606.ENSP00000342560 HRH3 445 Histamine H3 receptor; The H3 subclass of histamine receptors could mediate the histamine signals in CNS and peripheral nervous system. Signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). Agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization 9606.ENSP00000342570 TREML4 200 Trem-like transcript 4 protein; Positively regulates Toll-like receptor TLR7 signaling in macrophages; V-set domain containing 9606.ENSP00000342576 FAM221A 298 Protein FAM221A; Family with sequence similarity 221 member A; Belongs to the FAM221 family 9606.ENSP00000342604 FAM184A 1140 Protein FAM184A; Family with sequence similarity 184 member A 9606.ENSP00000342609 ACER2 275 Alkaline ceramidase 2; Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)- ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)- ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-eryth [...] 9606.ENSP00000342626 EYA1 592 Eyes absent homolog 1; Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Its function as histone phosphatase may contribute to its function in trans [...] 9606.ENSP00000342676 AURKAIP1 199 Aurora kinase A-interacting protein; May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation 9606.ENSP00000342680 CXorf67 503 Uncharacterized protein CXorf67; Chromosome X open reading frame 67 9606.ENSP00000342681 CD5 495 T-cell surface glycoprotein CD5; May act as a receptor in regulating T-cell proliferation; CD molecules 9606.ENSP00000342697 OR2AG2 316 Olfactory receptor 2AG2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000342699 CFAP36 367 Cilia- and flagella-associated protein 36; May act as an effector for ARL3; Belongs to the CFAP36 family 9606.ENSP00000342710 KRT77 578 Keratin, type II cytoskeletal 1b; Keratins, type II; Belongs to the intermediate filament family 9606.ENSP00000342755 RNF41 317 E3 ubiquitin-protein ligase NRDP1; Acts as E3 ubiquitin-protein ligase and regulates the degradation of target proteins. Polyubiquitinates MYD88. Negatively regulates MYD88-dependent production of proinflammatory cytokines. Can promote TRIF-dependent production of type I interferon and inhibits infection with vesicular stomatitis virus (By similarity). Promotes also activation of TBK1 and IRF3. Involved in the ubiquitination of erythropoietin (EPO) and interleukin-3 (IL-3) receptors. Thus, through maintaining basal levels of cytokine receptors, RNF41 is involved in the control of hemat [...] 9606.ENSP00000342778 PPM1G 546 Protein phosphatase, Mg2+/Mn2+ dependent 1G; Belongs to the PP2C family 9606.ENSP00000342790 FAM25A 89 Family with sequence similarity 25 member A; Belongs to the FAM25 family 9606.ENSP00000342793 PLD1 1074 Phospholipase D1; Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity); Phospholipases 9606.ENSP00000342805 FAIM 213 Fas apoptotic inhibitory molecule 1; Plays a role as an inducible effector molecule that mediates Fas resistance produced by surface Ig engagement in B cells; Belongs to the FAIM1 family 9606.ENSP00000342818 ZNF669 464 Zinc finger protein 669; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000342828 NKX2-3 364 Homeobox protein Nkx-2.3; Transcription factor; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000342832 YPEL1 119 Protein yippee-like 1; May play a role in epithelioid conversion of fibroblasts; Yippee like family 9606.ENSP00000342836 OR6C74 312 Olfactory receptor 6C74; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000342840 LYSMD4 297 LysM and putative peptidoglycan-binding domain-containing protein 4; LysM domain containing 4 9606.ENSP00000342848 NOXA1 483 NADPH oxidase activator 1; Functions as an activator of NOX1, a superoxide- producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sensing and signal transduction. May also activate CYBB/gp91phox and NOX3; Belongs to the NCF2/NOXA1 family 9606.ENSP00000342850 SERPINA6 405 Corticosteroid-binding globulin; Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species; Serpin peptidase inhibitors 9606.ENSP00000342858 FERMT2 687 Fermitin family homolog 2; Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and ce [...] 9606.ENSP00000342889 POLR2K 58 DNA-directed RNA polymerases I, II, and III subunit RPABC4; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively 9606.ENSP00000342924 MCPH1 835 Microcephalin; Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex 9606.ENSP00000342931 POU1F1 317 Pituitary-specific positive transcription factor 1; Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes; Belongs to the POU transcription factor family. Class- 1 subfamily 9606.ENSP00000342938 UPK3BL 263 Uroplakin-3b-like protein 1; Uroplakin 3B-like 9606.ENSP00000342952 ADCY2 1091 Adenylate cyclase type 2; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Down-stream signaling cascades mediate changes in gene expression patterns and lead to increased IL6 production. Functions in signaling cascades downstream of the muscarinic acetylcholine receptors (By similarity); Belongs to the adenylyl cyclase class-4/guanylyl cyclase family 9606.ENSP00000342962 SERINC1 453 Serine incorporator 1; Enhances the incorporation of serine into phosphatidylserine and sphingolipids; Belongs to the TDE1 family 9606.ENSP00000342974 ZNF791 576 Zinc finger protein 791; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000342981 GPR114 528 Adhesion G-protein coupled receptor G5; Adhesion G protein-coupled receptor (GPCR). Transduces intracellular signals through coupling to guanine nucleotide- binding protein G(s) subunit alpha and activation of adenylate cyclase pathway. Isoform 1, but not isoform 2, is constitutively active, as evidenced by elevated basal cAMP levels, and responds to mechanical activation (shaking) 9606.ENSP00000343000 IL19 215 Interleukin-19; May play some important roles in inflammatory responses. Up-regulates IL-6 and TNF-alpha and induces apoptosis (By similarity); Interleukins 9606.ENSP00000343001 UBE4B 1302 Ubiquitin conjugation factor E4 B; Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase; Belongs to the ubiquitin conjugation factor E4 family 9606.ENSP00000343002 B3GALTL 498 Beta-1,3-glucosyltransferase; O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan 9606.ENSP00000343023 SP100 885 Nuclear autoantigen Sp-100; Together with PML, this tumor suppressor is a major constituent of the PML bodies, a subnuclear organelle involved in a large number of physiological processes including cell growth, differentiation and apoptosis. Functions as a transcriptional coactivator of ETS1 and ETS2 according to PubMed:11909962. Under certain conditions, it may also act as a corepressor of ETS1 preventing its binding to DNA according to PubMed:15247905. Through the regulation of ETS1 it may play a role in angiogenesis, controlling endothelial cell motility and invasion. Through intera [...] 9606.ENSP00000343027 GNAI1 354 Guanine nucleotide-binding protein G(i) subunit alpha-1; Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numer [...] 9606.ENSP00000343054 RBM5 815 RNA-binding protein 5; Component of the spliceosome A complex. Regulates alternative splicing of a number of mRNAs. May modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5' and 3' splice sites of the intron. May both positively and negatively regulate apoptosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, promotes exclusion of exon 9 thereby pr [...] 9606.ENSP00000343062 OR2T2 324 Olfactory receptor 2T2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000343064 GOLGA8B 603 Golgin subfamily A member 8B; May be involved in maintaining Golgi structure; Belongs to the GOLGA8 family 9606.ENSP00000343103 PRMT7 692 Protein arginine N-methyltransferase 7; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being [...] 9606.ENSP00000343118 LAMTOR4 99 Ragulator complex protein LAMTOR4; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated; Belongs to the LAMTOR4 family 9606.ENSP00000343126 ARID3B 560 AT-rich interactive domain-containing protein 3B; Transcription factor which may be involved in neuroblastoma growth and malignant transformation. Favors nuclear targeting of ARID3A; AT-rich interaction domain containing 9606.ENSP00000343129 TRIM29 588 Tripartite motif-containing protein 29; It is able to complement the radiosensitivity defect of an ataxia telangiectasia (AT) fibroblast cell line; Tripartite motif containing 9606.ENSP00000343140 XIRP1 1843 Xin actin-binding repeat-containing protein 1; Protects actin filaments from depolymerization; Belongs to the Xin family 9606.ENSP00000343144 PARD6G 376 Partitioning defective 6 homolog gamma; Adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions. The PARD6-PARD3 complex links GTP- bound Rho small GTPases to atypical protein kinase C proteins (By similarity); PDZ domain containing 9606.ENSP00000343158 EPB41L3 1087 Band 4.1-like protein 3; Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N- methyltransferases, including PRMT3 and PRMT5; Erythrocyte membrane protein band 4.1 9606.ENSP00000343171 C2orf80 193 Uncharacterized protein C2orf80; Chromosome 2 open reading frame 80 9606.ENSP00000343172 PRR27 219 Proline-rich protein 27; Proline rich 27 9606.ENSP00000343190 PPCDC 204 Phosphopantothenoylcysteine decarboxylase; Necessary for the biosynthesis of coenzyme A. Catalyzes the decarboxylation of 4-phosphopantothenoylcysteine to form 4'- phosphopantotheine 9606.ENSP00000343200 SKOR1 868 SKI family transcriptional corepressor 1; Acts as a transcriptional corepressor of LBX1 (By similarity). Inhibits BMP signaling; SKI transcriptional corepressors 9606.ENSP00000343204 JAK1 1154 Tyrosine-protein kinase JAK1; Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase partner for the interleukin (IL)-2 receptor; FERM domain containing 9606.ENSP00000343223 TCL1B 128 T-cell leukemia/lymphoma protein 1B; Enhances the phosphorylation and activation of AKT1 and AKT2; Belongs to the TCL1 family 9606.ENSP00000343242 ZBED6CL 236 ZBED6 C-terminal-like protein; ZBED6 C-terminal like 9606.ENSP00000343244 DUSP21 190 Dual specificity protein phosphatase 21; Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000343246 HOXA1 335 Homeobox protein Hox-A1; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments; Belongs to the Antp homeobox family. Labial subfamily 9606.ENSP00000343248 SBK1 424 Serine/threonine-protein kinase SBK1; May be involved in signal-transduction pathways related to the control of brain development 9606.ENSP00000343273 KLHL7 586 Kelch-like protein 7; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination; BTB domain containing 9606.ENSP00000343288 FOXN3 490 Forkhead box protein N3; Acts as a transcriptional repressor. May be involved in DNA damage-inducible cell cycle arrests (checkpoints); Forkhead boxes 9606.ENSP00000343290 C9orf171 320 Cilia- and flagella-associated protein 77; Chromosome 9 open reading frame 171 9606.ENSP00000343325 PKN1 948 Serine/threonine-protein kinase N1; PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Se [...] 9606.ENSP00000343331 LIPI 481 Lipase member I; Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG); Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000343339 P2RX2 497 P2X purinoceptor 2; Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle; Deafness associated genes 9606.ENSP00000343348 VMAC 169 Vimentin type intermediate filament associated coiled-coil protein 9606.ENSP00000343366 VSTM1 236 V-set and transmembrane domain-containing protein 1; Isoform 2: Behaves as a cytokine, promoting IL17A secretion by CD4+ T-cells, and differentiation and activation of IL17 producing helper T-cells (TH17); Immunoglobulin like domain containing 9606.ENSP00000343398 TMPPE 453 Transmembrane protein with metallophosphoesterase domain 9606.ENSP00000343405 SEC24C 1094 Protein transport protein Sec24C; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24D may have a different specificity compared to SEC24A and SEC24B. May more specifically package GPI-anchored proteins through the cargo receptor [...] 9606.ENSP00000343412 BRE 415 BRISC and BRCA1-A complex member 2; Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrit [...] 9606.ENSP00000343428 GPR18 331 N-arachidonyl glycine receptor; Receptor for endocannabinoid N-arachidonyl glycine (NAGly). However, conflicting results about the role of NAGly as an agonist are reported. Can also be activated by plant- derived and synthetic cannabinoid agonists. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. May contribute to regulation of the immune system. Is required for normal homeostasis of CD8+ subsets of intraepithelial lymphocytes (IELs) (CD8alphaalpha and CD8alphabeta IELs)in small intstine by supporting preferential migration of CD8alphaalpha T-cell [...] 9606.ENSP00000343435 YIF1B 314 Protein YIF1B; Yip1 interacting factor homolog B, membrane trafficking protein; Belongs to the YIF1 family 9606.ENSP00000343445 SERPINB4 390 Serpin B4; May act as a protease inhibitor to modulate the host immune response against tumor cells; Serpin peptidase inhibitors 9606.ENSP00000343490 LCTL 567 Lactase-like protein; Lactase like; Belongs to the glycosyl hydrolase 1 family. Klotho subfamily 9606.ENSP00000343493 C17orf99 265 Uncharacterized protein C17orf99; Chromosome 17 open reading frame 99 9606.ENSP00000343505 TNFSF13 250 Tumor necrosis factor ligand superfamily member 13; Cytokine that binds to TNFRSF13B/TACI and to TNFRSF17/BCMA. Plays a role in the regulation of tumor cell growth. May be involved in monocyte/macrophage-mediated immunological processes; CD molecules 9606.ENSP00000343507 TMEM198 360 Transmembrane protein 198; Promotes LRP6 phosphorylation by casein kinases and thereby plays a role in Wnt signaling. May be a membrane scaffold protein involved in the self-aggregation of LRP6 to further enhance its activity 9606.ENSP00000343515 TCEA2 299 Transcription elongation factor A protein 2; Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus; Belongs to the TFS-II family 9606.ENSP00000343521 OR1J4 313 Olfactory receptor 1J4; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000343526 USP1 785 Ubiquitin carboxyl-terminal hydrolase 1; Negative regulator of DNA damage repair which specifically deubiquitinates monoubiquitinated FANCD2. Also involved in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA. Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity 9606.ENSP00000343535 USP7 1102 Ubiquitin carboxyl-terminal hydrolase 7; Hydrolase that deubiquitinates target proteins such as FOXO4, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53- dependent transcription regulation, cell growth repression and apoptosis. Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of [...] 9606.ENSP00000343552 ICMT 284 Protein-S-isoprenylcysteine O-methyltransferase; Catalyzes the post-translational methylation of isoprenylated C-terminal cysteine residues 9606.ENSP00000343577 TPSAB1 275 Tryptase alpha/beta-1; Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates; Belongs to the peptidase S1 family. Tryptase subfamily 9606.ENSP00000343581 ZFP30 519 Zinc finger protein 30 homolog; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000343617 ZNF606 792 Zinc finger protein 606; May act as a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000343619 HOXA9 272 Homeobox protein Hox-A9; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation; HOXL subclass homeoboxes 9606.ENSP00000343629 PRRC2C 2817 Protein PRRC2C; Proline rich coiled-coil 2C 9606.ENSP00000343633 FOXN2 431 Forkhead box protein N2; Binds to the purine-rich region in HTLV-I LTR; Forkhead boxes 9606.ENSP00000343635 TLDC1 456 TLD domain-containing protein 1; TBC/LysM-associated domain containing 1 9606.ENSP00000343636 GFRAL 394 GDNF family receptor alpha like 9606.ENSP00000343656 RAPGEF5 730 Rap guanine nucleotide exchange factor 5; Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation 9606.ENSP00000343657 MCCC2 563 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism; Belongs to the AccD/PCCB family 9606.ENSP00000343658 MAP4K4 1273 Mitogen-activated protein kinase kinase kinase kinase 4; Serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway. Phosphorylates SMAD1 on Thr-322; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily 9606.ENSP00000343674 ASTL 431 Astacin-like metalloendopeptidase; Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity); Belongs to the peptidase M12A family 9606.ENSP00000343676 GJA4 333 Gap junction alpha-4 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell 9606.ENSP00000343686 BTBD8 378 BTB/POZ domain-containing protein 8; BTB domain containing 8 9606.ENSP00000343690 DPYSL3 684 Dihydropyrimidinase-related protein 3; Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, neuronal growth cone collapse and cell migration (By similarity) 9606.ENSP00000343701 KPNA1 538 Importin subunit alpha-5; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta ar [...] 9606.ENSP00000343706 MAGEH1 219 Melanoma-associated antigen H1; MAGE family member H1 9606.ENSP00000343741 ATR 2644 Serine/threonine-protein kinase ATR; Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage r [...] 9606.ENSP00000343742 BROX 411 BRO1 domain-containing protein BROX; BRO1 domain and CAAX motif containing; Belongs to the BROX family 9606.ENSP00000343746 CORO2A 525 Coronin-2A; WD repeat domain containing; Belongs to the WD repeat coronin family 9606.ENSP00000343782 ADRB3 408 Beta-3 adrenergic receptor; Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis; Adrenoceptors 9606.ENSP00000343818 CDK5RAP2 1893 CDK5 regulatory subunit-associated protein 2; Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of [...] 9606.ENSP00000343819 OTX2 297 Homeobox protein OTX2; Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'; Belongs to the paired homeobox family. Bicoid subfamily 9606.ENSP00000343838 UGT1A10 530 UDP-glucuronosyltransferase 1-10; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 9606.ENSP00000343847 NEK10 712 Serine/threonine-protein kinase Nek10; Armadillo-like helical domain containing 9606.ENSP00000343867 MRRF 262 Ribosome-recycling factor, mitochondrial; Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of translation by recycling ribosomes from one round of translation to another (By similarity) 9606.ENSP00000343871 TMTC4 760 Transmembrane and tetratricopeptide repeat containing 4; Belongs to the TMTC family 9606.ENSP00000343885 PPA2 334 Inorganic pyrophosphatase 2, mitochondrial; Hydrolyzes inorganic pyrophosphate. This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function 9606.ENSP00000343890 CPTP 214 Ceramide-1-phosphate transfer protein; Mediates the intracellular transfer of ceramide-1- phosphate between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and t [...] 9606.ENSP00000343891 NLRP13 1043 NACHT, LRR and PYD domains-containing protein 13; Involved in inflammation; NLR family 9606.ENSP00000343899 FRMD6 622 FERM domain containing 6 9606.ENSP00000343900 CPSF4L 179 Putative cleavage and polyadenylation specificity factor subunit 4-like protein; Cleavage and polyadenylation specific factor 4 like; Belongs to the CPSF4/YTH1 family 9606.ENSP00000343924 PRELP 382 Prolargin; May anchor basement membranes to the underlying connective tissue; Small leucine rich repeat proteoglycans 9606.ENSP00000343925 ESR2 530 Estrogen receptor beta; Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner. Isoform beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of ligand-dependent transactivation ability. DNA-binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at elevated temperature [...] 9606.ENSP00000343930 KLHL17 642 Kelch-like protein 17; Substrate-recognition component of some cullin-RING- based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(KLHL17) mediates the ubiquitination and subsequenct degradation of GLUR6. May play a role in the actin-based neuronal function (By similarity); BTB domain containing 9606.ENSP00000343952 GPR29 374 Chemokine (C-C motif) receptor 6; Receptor for the C-C type chemokine CCL20. Binds to CCL20 and subsequently transduces a signal by increasing the intracellular calcium ion levels. Although CCL20 is its major ligand it can also act as a receptor for non-chemokine ligands such as beta-defensins. Binds to defensin DEFB1 leading to increase in intracellular calcium ions and cAMP levels. Its binding to DEFB1 is essential for the function of DEFB1 in regulating sperm motility and bactericidal activity. Binds to defensins DEFB4 and DEFB4A/B and mediates their chemotactic effects. The ligand- [...] 9606.ENSP00000343957 IFNAR2 515 Interferon alpha/beta receptor 2; Associates with IFNAR1 to form the type I interferon receptor. Receptor for interferons alpha and beta. Involved in IFN-mediated STAT1, STAT2 and STAT3 activation. Isoform 1 and isoform 2 are directly involved in signal transduction due to their association with the TYR kinase, JAK1. Isoform 3 is a potent inhibitor of type I IFN receptor activity 9606.ENSP00000343966 PSPC1 523 Paraspeckle component 1; Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line (By similarity). Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Together with NONO, required for the formation of nuclear paraspeckles. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 pho [...] 9606.ENSP00000344041 SYNGR4 234 Synaptogyrin-4; Synaptogyrin 4; Synaptogyrins 9606.ENSP00000344071 METTL24 366 Methyltransferase-like protein 24; Methyltransferase like 24 9606.ENSP00000344087 AUTS2 1259 Autism susceptibility gene 2 protein; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of R [...] 9606.ENSP00000344095 ZNF683 504 Tissue-resident T-cell transcription regulator protein ZNF683; Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T-cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid orga [...] 9606.ENSP00000344101 OR6N2 317 Olfactory receptor 6N2; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000344115 CDH5 784 Cadherin-5; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. This cadherin may play a important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. It associates with alpha-catenin forming a link to the cytoskeleton. Acts in concert with KRIT1 to establish and maintain correct endothelial cell polarity and vascular lumen. These effects are mediated by recrui [...] 9606.ENSP00000344125 POMGNT2 580 Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; O-linked mannose beta-1,4-N- acetylglucosaminyltransferase that transfers UDP-N-acetyl-D- glucosamine to the 4-position of the mannose to generate N-acetyl- D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N- acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate- 6-)mannose), a carbohydrate structure present in alpha- dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity 9606.ENSP00000344129 ZNF648 568 Zinc finger protein 648; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000344140 PPP1R32 425 Protein phosphatase 1 regulatory subunit 32 9606.ENSP00000344155 ABCA2 2436 ATP-binding cassette sub-family A member 2; Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development; Belongs to the ABC transporter superfamily. ABCA family 9606.ENSP00000344162 ZNF136 540 Zinc finger protein 136; May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000344166 ENSG00000124208 370 TMEM189-UBE2V1 readthrough; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000344173 GRM8 908 Metabotropic glutamate receptor 8; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity 9606.ENSP00000344192 IL17A 155 Interleukin-17A; Ligand for IL17RA and IL17RC. The heterodimer formed by IL17A and IL17F is a ligand for the heterodimeric complex formed by IL17RA and IL17RC. Involved in inducing stromal cells to produce proinflammatory and hematopoietic cytokines; Belongs to the IL-17 family 9606.ENSP00000344206 RHBDL1 373 Rhomboid-related protein 1; May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors; Rhomboid family 9606.ENSP00000344208 TRIM14 442 Tripartite motif-containing protein 14; Plays a role in the innate immune defense against viruses. Facilitates the type I IFN response by interacting with MAVS at the outer mitochondria membrane and thereby recruiting NF- kappa-B essential modulator IKBKG/NEMO to the MAVS signalosome, leading to the activation of both the IFN regulatory factor 3/IRF3 and NF-kappa-B pathways. Positively regulates the cGAS-induced type I interferon signaling pathway by stabilizing cGAS/MB21D1 and inhibiting its autophagic degradation; Belongs to the TRIM/RBCC family 9606.ENSP00000344215 TP53INP1 240 Tumor protein p53-inducible nuclear protein 1; Antiproliferative and proapoptotic protein involved in cell stress response which acts as a dual regulator of transcription and autophagy. Acts as a positive regulator of autophagy. In response to cellular stress or activation of autophagy, relocates to autophagosomes where it interacts with autophagosome-associated proteins GABARAP, GABARAPL1/L2, MAP1LC3A/B/C and regulates autophagy. Acts as an antioxidant and plays a major role in p53/TP53-driven oxidative stress response. Possesses both a p53/TP53-independent intracellular reactive oxyg [...] 9606.ENSP00000344218 C1orf162 155 Transmembrane protein C1orf162; Chromosome 1 open reading frame 162 9606.ENSP00000344219 SUSD4 490 Sushi domain-containing protein 4; Acts as complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways; Sushi domain containing 9606.ENSP00000344220 PDPK1 556 3-phosphoinositide-dependent protein kinase 1; Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), protein kinase PKN (PKN1 and PKN2). Plays a central rol [...] 9606.ENSP00000344223 MBTPS1 1052 Membrane-bound transcription factor site-1 protease; Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg- Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lyso [...] 9606.ENSP00000344233 LRRC43 656 Leucine-rich repeat-containing protein 43; Leucine rich repeat containing 43 9606.ENSP00000344241 ZMAT5 170 Zinc finger matrin-type 5; U11/U12 di-snRNP 9606.ENSP00000344242 LRRC17 441 Leucine-rich repeat-containing protein 17; Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity) 9606.ENSP00000344254 FXYD5 178 FXYD domain-containing ion transport regulator 5; Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis; Belongs to the FXYD family 9606.ENSP00000344260 GALNT15 639 Polypeptide N-acetylgalactosaminyltransferase 15; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Although it displays a much weaker activity toward all substrates tested compared to GALNT2, it is able to transfer up to seven GalNAc residues to the Muc5AC peptide, suggesting that it can fill vicinal Thr/Ser residues in cooperation with other GALNT proteins. Prefers Muc1a as substrate; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily 9606.ENSP00000344277 DOK4 326 Docking protein 4; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK4 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway (By similarity). Putative link with downstream effectors of RET in neuronal differentiation. May be involved in the regulation of the immune response induced by T-cells 9606.ENSP00000344285 BSX 233 Brain-specific homeobox protein homolog; DNA binding protein that function as transcriptional activator. Is essentiel for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti- related peptide function and locomotory behavior in the control of energy balance (By similarity); NKL subclass homeoboxes and pseudogenes 9606.ENSP00000344299 PTAR1 402 Protein prenyltransferase alpha subunit repeat containing 1 9606.ENSP00000344314 OFD1 1012 Oral-facial-digital syndrome 1 protein; Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriol [...] 9606.ENSP00000344331 FAM69C 419 Protein FAM69C; Family with sequence similarity 69 member C 9606.ENSP00000344352 ATF3 181 Cyclic AMP-dependent transcription factor ATF-3; This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter. Isoform 2 activates transcription presumably by sequestering inhibitory cofactors away from the promoters; Basic leucine zipper proteins 9606.ENSP00000344393 FCF1 198 rRNA-processing protein FCF1 homolog; Essential protein involved in pre-rRNA processing and 40S ribosomal subunit assembly 9606.ENSP00000344401 LIN28B 250 Protein lin-28 homolog B; Suppressor of microRNA (miRNA) biogenesis, including that of let-7 and possibly of miR107, miR-143 and miR-200c. Binds primary let-7 transcripts (pri-let-7), including pri-let-7g and pri-let-7a-1, and sequester them in the nucleolus, away from the microprocessor complex, hence preventing their processing into mature miRNA. Does not act on pri-miR21. The repression of let-7 expression is required for normal development and contributes to maintain the pluripotent state of embryonic stem cells by preventing let-7-mediated differentiation. When overexpressed, recr [...] 9606.ENSP00000344403 FSIP2 6996 Fibrous sheath interacting protein 2 9606.ENSP00000344411 TAS1R3 852 Taste receptor type 1 member 3; Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners. TAS1R3 is essential for the recognition and response to the disaccharide trehalose (By similarity). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses 9606.ENSP00000344420 KRTAP1-3 167 Keratin-associated protein 1-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000344424 KIAA0247 303 Sushi domain-containing protein 6; May play a role in growth-suppressive activity and cell death. May be involved in the production of chemokine molecules in umbilical vein endothelial cells (HUVECs) cultured in THP1 monocyte LPS-induced medium. Plays a role in preventing tumor onset (By similarity) 9606.ENSP00000344430 IFITM10 228 Interferon induced transmembrane protein 10 9606.ENSP00000344431 DNAJB13 316 DnaJ homolog subfamily B member 13; May play a role in the formation of the central complex of ciliary and flagellar axonemes; DNAJ heat shock proteins 9606.ENSP00000344432 DOK7 504 Protein Dok-7; Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK 9606.ENSP00000344446 FGD6 1430 FYVE, RhoGEF and PH domain-containing protein 6; May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity); Pleckstrin homology domain containing 9606.ENSP00000344456 CTNNB1 781 Catenin beta-1; Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion, as component of an [...] 9606.ENSP00000344458 PROZ 422 Vitamin K-dependent protein Z; Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles. Inhibits activity of the coagulation protease factor Xa in the presence of SERPINA10, calcium and phospholipids; Belongs to the peptidase S1 family 9606.ENSP00000344465 PEAR1 1037 Platelet endothelial aggregation receptor 1; When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells; Belongs to the MEGF family 9606.ENSP00000344468 SDC3 442 Syndecan-3; Cell surface proteoglycan that may bear heparan sulfate (By similarity). May have a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism 9606.ENSP00000344479 NR4A2 598 Nuclear receptor subfamily 4 group A member 2; Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity); Belongs to the nuclear hormone receptor family. NR4 subfamily 9606.ENSP00000344488 JPH1 661 Junctophilin-1; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH1 contributes to the construction of the skeletal muscle triad by linking the t-tubule (transverse-tubule) and SR (sarcoplasmic reticulum) membranes 9606.ENSP00000344489 RNF133 376 E3 ubiquitin-protein ligase RNF133; Has E3 ubiquitin-protein ligase activity; Ring finger proteins 9606.ENSP00000344503 TMEM201 666 Transmembrane protein 201; Involved in nuclear movement during fibroblast polarization and migration. Proposed to be involved in actin- dependent nuclear movement via association with transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow (By similarity). Overexpression can recruit Ran GTPase to the nuclear periphery 9606.ENSP00000344504 H1F0 194 Histone H1.0; Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures. The H1F0 histones are found in cells that are in terminal stages of differentiation or that have low rates of cell division 9606.ENSP00000344544 IKZF3 509 Zinc finger protein Aiolos; Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2- dependent manner; Belongs to the Ikaros C2H2-type zinc-finger protein family 9606.ENSP00000344545 SCGB1C1 95 Secretoglobin family 1C member 1; Secretoglobins 9606.ENSP00000344546 ARID1B 2249 AT-rich interactive domain-containing protein 1B; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors- specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem [...] 9606.ENSP00000344547 PTMA 111 Prothymosin alpha; Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections 9606.ENSP00000344562 CORO6 472 Coronin-6; WD repeat domain containing; Coronins 9606.ENSP00000344563 CLEC12B 276 C-type lectin domain family 12 member B; Cell surface receptor that protects target cells against natural killer cell-mediated lysis. Modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases; C-type lectin domain containing 9606.ENSP00000344572 FIBP 364 Acidic fibroblast growth factor intracellular-binding protein; May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity) 9606.ENSP00000344577 APOL3 402 Apolipoprotein L3; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles; Apolipoproteins 9606.ENSP00000344579 FSCB 825 Fibrous sheath CABYR-binding protein; May be involved in the later stages of fibrous sheath biogenesis and spermatozoa capacitation. Inhibits ROPN1 and ROPN1L SUMOylation. Binds calcium 9606.ENSP00000344609 BTG3 296 Protein BTG3; BTG anti-proliferation factor 3; BTG/Tob family 9606.ENSP00000344635 CCNG1 295 Cyclin-G1; May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity); Cyclins 9606.ENSP00000344648 SLC37A1 533 Glucose-6-phosphate exchanger SLC37A1; Inorganic phosphate and glucose-6-phosphate antiporter. May transport cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocate inorganic phosphate into the opposite direction. Independent of a lumenal glucose-6- phosphatase. May not play a role in homeostatic regulation of blood glucose levels; Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family 9606.ENSP00000344666 NF2 595 Merlin; Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF [...] 9606.ENSP00000344674 DHRS2 300 Dehydrogenase/reductase SDR family member 2, mitochondrial; Displays NADPH-dependent dicarbonyl reductase activity in vitro with 3,4-Hexanedione, 2,3-Heptanedione and 1-Phenyl-1,2- propanedione as substrates. No reductase activity is displayed in vitro with steroids, retinoids and sugars as substrates. Attenuates MDM2-mediated p53/TP53 degradation, leading to p53/TP53 stabilization and increased transcription activity, resulting in the accumulation of MDM2 and CDKN1A/p21; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000344724 TOX2 506 TOX high mobility group box family member 2; Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system 9606.ENSP00000344729 FAM166A 317 Protein FAM166A; Family with sequence similarity 166 member A 9606.ENSP00000344741 INSIG1 277 Insulin-induced gene 1 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in metabolic control. May play [...] 9606.ENSP00000344749 CCDC37 611 Cilia- and flagella-associated protein 100; May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm 9606.ENSP00000344758 ECM2 699 Extracellular matrix protein 2; Promotes matrix assembly and cell adhesiveness 9606.ENSP00000344782 GFI1B 330 Zinc finger protein Gfi-1b; Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA [...] 9606.ENSP00000344786 NFASC 1240 Neurofascin; Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions; Fibronectin type III domain containing 9606.ENSP00000344791 ZNF600 722 Zinc finger protein 600; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000344801 SLC24A2 661 Sodium/potassium/calcium exchanger 2; Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+); Solute carriers 9606.ENSP00000344816 BSDC1 474 BSD domain containing 1 9606.ENSP00000344819 CMTM5 223 CKLF like MARVEL transmembrane domain containing 5; Belongs to the chemokine-like factor family 9606.ENSP00000344820 KCNK7 307 Potassium channel subfamily K member 7; Probable potassium channel subunit. No channel activity observed in vitro as protein remains in the endoplasmic reticulum. May need to associate with an as yet unknown partner in order to reach the plasma membrane; Belongs to the two pore domain potassium channel (TC 1.A.1.8) family 9606.ENSP00000344828 ZNF678 525 Zinc finger protein 678; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000344829 QPCT 361 Glutaminyl-peptide cyclotransferase; Responsible for the biosynthesis of pyroglutamyl peptides. Has a bias against acidic and tryptophan residues adjacent to the N-terminal glutaminyl residue and a lack of importance of chain length after the second residue. Also catalyzes N-terminal pyroglutamate formation. In vitro, catalyzes pyroglutamate formation of N-terminally truncated form of APP amyloid-beta peptides [Glu-3]-amyloid-beta. May be involved in the N-terminal pyroglutamate formation of several amyloid-related plaque-forming peptides 9606.ENSP00000344831 SLC25A40 338 Solute carrier family 25 member 40 9606.ENSP00000344844 HAVCR1 364 Hepatitis A virus cellular receptor 1; May play a role in T-helper cell development and the regulation of asthma and allergic diseases. Receptor for TIMD4 (By similarity). May play a role in kidney injury and repair; Belongs to the immunoglobulin superfamily. TIM family 9606.ENSP00000344855 FBXL14 418 F-box/LRR-repeat protein 14; Substrate-recognition component of some SCF (SKP1-CUL1- F-box protein)-type E3 ubiquitin-protein ligase complexes. The SCF(FBXL14) complex acts by mediating ubiquitination and subsequent degradation of SNAI1; F-box and leucine rich repeat proteins 9606.ENSP00000344860 IGFL3 125 Insulin growth factor-like family member 3; Potential ligand of the IGFLR1 cell membrane receptor 9606.ENSP00000344865 C9orf153 95 Uncharacterized protein C9orf153; Chromosome 9 open reading frame 153 9606.ENSP00000344866 FBXL5 691 F-box/LRR-repeat protein 5; Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2. Upon high iron and oxygen level, it specifically recognizes and binds IREB2/IRP2, promoting its ubiquitination and degradation by the proteasome. Promotes ubiquitination and subsequent degradation of DCTN1/p150-glued; F-box and leucine rich repeat proteins 9606.ENSP00000344871 MYO1F 1098 Unconventional myosin-If; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity); Myosins, class I 9606.ENSP00000344903 MAFK 156 Transcription factor MafK; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor; Belongs to the bZIP family. Maf subfamily 9606.ENSP00000344907 CSTL1 145 Cystatin-like 1; Cystatins, type 2 9606.ENSP00000344909 PTP4A2 167 Protein tyrosine phosphatase type IVA 2; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Promotes tumors. Inhibits geranylgeranyl transferase type II activity by blocking the association between RABGGTA and RABGGTB 9606.ENSP00000344929 BPIFB6 453 BPI fold containing family B member 6; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family 9606.ENSP00000344937 DPY19L3 716 Probable C-mannosyltransferase DPY19L3; Probable C-mannosyltransferase that mediates C- mannosylation of tryptophan residues on target proteins; Belongs to the dpy-19 family 9606.ENSP00000344942 UNC119B 251 Protein unc-119 homolog B; Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N- terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells; Belongs to the PDE6D/unc-119 family 9606.ENSP00000344961 PLEKHG7 379 Pleckstrin homology and RhoGEF domain containing G7 9606.ENSP00000344967 SPRY4 322 Protein sprouty homolog 4; Suppresses the insulin receptor and EGFR-transduced MAPK signaling pathway, but does not inhibit MAPK activation by a constitutively active mutant Ras. Probably impairs the formation of GTP-Ras. Inhibits Ras-independent, but not Ras-dependent, activation of RAF1 9606.ENSP00000344989 DALRD3 543 DALR anticodon-binding domain-containing protein 3; DALR anticodon binding domain containing 3 9606.ENSP00000344996 PALM3 673 Paralemmin-3; ATP-binding protein, which may act as a adapter in the Toll-like receptor (TLR) signaling 9606.ENSP00000345001 CRTC1 650 CREB-regulated transcription coactivator 1; Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX act [...] 9606.ENSP00000345008 FBLN5 448 Fibulin-5; Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN. Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling. May act as an adapter that mediates the interaction between FBN1 and ELN; Belongs to the fibulin family 9606.ENSP00000345023 GSTO2 243 Glutathione S-transferase omega-2; Exhibits glutathione-dependent thiol transferase activity. Has high dehydroascorbate reductase activity and may contribute to the recycling of ascorbic acid. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA); Belongs to the GST superfamily. Omega family 9606.ENSP00000345024 GLI4 376 GLI family zinc finger 4; Zinc fingers C2H2-type 9606.ENSP00000345029 FAM47A 791 Protein FAM47A; Family with sequence similarity 47 member A 9606.ENSP00000345055 KCNQ5 951 Potassium voltage-gated channel subfamily KQT member 5; Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Therefore, it is important in the regulation of neuronal excitability. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M- channels, varying in kinetic and pharmacological properties, which underlie this physiologically important curren [...] 9606.ENSP00000345064 PRICKLE1 831 Prickle-like protein 1; Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor; LIM domain containing 9606.ENSP00000345083 MAP2K3 347 Dual specificity mitogen-activated protein kinase kinase 3; Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily 9606.ENSP00000345096 IMPDH1 599 Inosine-5'-monophosphate dehydrogenase 1; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors; Belongs to the IMPDH/GMPR family 9606.ENSP00000345102 C19orf35 473 Uncharacterized protein PEAK3; Chromosome 19 open reading frame 35 9606.ENSP00000345107 C2orf88 95 Small membrane A-kinase anchor protein; Binds to type I regulatory subunits of protein kinase A (PKA-RI) and may anchor/target them to the plasma membrane; Belongs to the small membrane AKAP family 9606.ENSP00000345133 CDC42BPG 1551 Serine/threonine-protein kinase MRCK gamma; May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity); Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily 9606.ENSP00000345147 NKX2-4 354 Homeobox protein Nkx-2.4; Probable transcription factor; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000345151 RFPL4AL1 287 Ret finger protein like 4A like 1; Ring finger proteins 9606.ENSP00000345163 OR51F1 312 Olfactory receptor 51F1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000345175 PODNL1 512 Podocan-like protein 1; Podocan like 1 9606.ENSP00000345179 APOD 189 Apolipoprotein D; APOD occurs in the macromolecular complex with lecithin- cholesterol acyltransferase. It is probably involved in the transport and binding of bilin. Appears to be able to transport a variety of ligands in a number of different contexts; Apolipoproteins 9606.ENSP00000345192 OLFM3 478 Noelin-3; Olfactomedin 3 9606.ENSP00000345195 UBQLN2 624 Ubiquilin-2; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin- proteasome system (UPS), autophagy and the endoplasmic reticulum- associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome. Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form [...] 9606.ENSP00000345206 RBPJ 500 Recombining binding protein suppressor of hairless; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling [...] 9606.ENSP00000345216 USP54 1684 Inactive ubiquitin carboxyl-terminal hydrolase 54; Has no peptidase activity; Belongs to the peptidase C19 family 9606.ENSP00000345229 DNER 737 Delta and Notch-like epidermal growth factor-related receptor; Activator of the NOTCH1 pathway. May mediate neuron-glia interaction during astrocytogenesis (By similarity) 9606.ENSP00000345230 TPM4 284 Tropomyosin alpha-4 chain; Tropomyosin 4; Tropomyosins 9606.ENSP00000345243 SIGLEC10 697 Sialic acid-binding Ig-like lectin 10; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid (By similarity). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, seems to act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Involved in negative re [...] 9606.ENSP00000345259 EPB41 864 Protein 4.1; Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase 9606.ENSP00000345270 MGAT3 533 Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase; It is involved in the regulation of the biosynthesis and biological function of glycoprotein oligosaccharides. Catalyzes the addition of N-acetylglucosamine in beta 1-4 linkage to the beta-linked mannose of the trimannosyl core of N-linked sugar chains. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides; Mannosyl-glycoprotein N-acetylglucosaminyltransferases 9606.ENSP00000345282 GPT2 523 Alanine aminotransferase 2; Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily 9606.ENSP00000345292 NDRG3 375 Protein NDRG3; NDRG family member 3; Belongs to the NDRG family 9606.ENSP00000345295 SH2D4B 357 SH2 domain containing 4B 9606.ENSP00000345333 ZNF69 149 Zinc finger protein 69; Zinc fingers C2H2-type 9606.ENSP00000345341 PTGES2 377 Prostaglandin E synthase 2; Isomerase that catalyzes the conversion of PGH2 into the more stable prostaglandin E2 (PGE2); Glutaredoxin domain containing 9606.ENSP00000345344 CTSL 333 Cathepsin L1; Important for the overall degradation of proteins in lysosomes; Cathepsins 9606.ENSP00000345347 HMGB1 215 High mobility group protein B1; Multifunctional redox sensitive protein with various roles in different cellular compartments. In the nucleus is one of the major chromatin-associated non-histone proteins and acts as a DNA chaperone involved in replication, transcription, chromatin remodeling, V(D)J recombination, DNA repair and genome stability. Proposed to be an universal biosensor for nucleic acids. Promotes host inflammatory response to sterile and infectious signals and is involved in the coordination and integration of innate and adaptive immune responses. In the cytoplasm functio [...] 9606.ENSP00000345359 PODXL2 605 Podocalyxin-like protein 2; Acts as a ligand for vascular selectins. Mediates rapid rolling of leukocytes over vascular surfaces through high affinity divalent cation-dependent interactions with E-, P- and L- selectins 9606.ENSP00000345361 ARPC5L 153 Actin-related protein 2/3 complex subunit 5-like protein; May function as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks; Belongs to the ARPC5 family 9606.ENSP00000345374 RTP5 572 Receptor transporter protein 5 9606.ENSP00000345393 MAFF 164 Transcription factor MafF; Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition. Since it lacks a putative transactivation domain, it may behave as a transcriptional repressor when it dimerize among himself. May also serve as a transcriptional activator by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. May be involved in the cellular stress response; Belongs to the bZIP family. Maf subfamily 9606.ENSP00000345395 PAPLN 1251 Papilin, proteoglycan like sulfated glycoprotein; Belongs to the papilin family 9606.ENSP00000345405 SPRED3 410 Sprouty-related, EVH1 domain-containing protein 3; Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase 9606.ENSP00000345412 CPSF7 514 Cleavage and polyadenylation specificity factor subunit 7; Component of the cleavage factor Im complex (CFIm) that plays a key role in pre-mRNA 3'-processing. Binds to cleavage and polyadenylation RNA substrates; RNA binding motif containing 9606.ENSP00000345420 ASCL4 173 Achaete-scute homolog 4; Could be a transcriptional regulator involved in skin development; Basic helix-loop-helix proteins 9606.ENSP00000345436 CASKIN1 1431 Caskin-1; May link the scaffolding protein CASK to downstream intracellular effectors; Ankyrin repeat domain containing 9606.ENSP00000345445 SAMM50 469 Sorting and assembly machinery component 50 homolog; Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes. Required for the assembly of TOMM40 into the TOM complex 9606.ENSP00000345464 NHLRC1 395 E3 ubiquitin-protein ligase NHLRC1; E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen [...] 9606.ENSP00000345468 TMEM215 235 Transmembrane protein 215 9606.ENSP00000345470 CCDC38 563 Coiled-coil domain containing 38 9606.ENSP00000345479 ZNF587 575 Zinc finger protein 587; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000345491 PCDHB13 798 Protocadherin beta-13; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000345492 SH2B3 575 SH2B adapter protein 3; Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase; Pleckstrin homology domain containing 9606.ENSP00000345494 PLSCR1 318 Phospholipid scramblase 1; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system 9606.ENSP00000345502 PDE4D 809 cAMP-specific 3',5'-cyclic phosphodiesterase 4D; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes; Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily 9606.ENSP00000345528 SLC35F6 371 Solute carrier family 35 member F6; Involved in the maintenance of mitochondrial membrane potential in pancreatic ductal adenocarcinoma (PDAC) cells. Promotes pancreatic ductal adenocarcinoma (PDAC) cell growth. May play a role as a nucleotide-sugar transporter 9606.ENSP00000345555 ENO4 625 Enolase 4; May be required for sperm motility and function; Enolases 9606.ENSP00000345563 OR7D2 312 Olfactory receptor 7D2; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000345571 E2F1 437 Transcription factor E2F1; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC- 3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA bind [...] 9606.ENSP00000345575 DNAJB12 409 DnaJ homolog subfamily B member 12; Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway. Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers. While stabilization of nas [...] 9606.ENSP00000345629 MAP3K15 1313 Mitogen-activated protein kinase kinase kinase 15; May function in a signal transduction pathway that is activated by various cell stresses and leads to apoptosis; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily 9606.ENSP00000345633 ZCCHC13 166 Zinc finger CCHC-type containing 13 9606.ENSP00000345656 VAPA 294 Vesicle-associated membrane protein-associated protein A; VAMP associated protein A 9606.ENSP00000345659 CA7 264 Carbonic anhydrase 7; Reversible hydration of carbon dioxide; Belongs to the alpha-carbonic anhydrase family 9606.ENSP00000345667 ILDR1 546 Immunoglobulin-like domain-containing receptor 1; Putative membrane receptor; Deafness associated genes 9606.ENSP00000345672 CTSB 339 Cathepsin B; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis; Cathepsins 9606.ENSP00000345681 GATA2 480 Endothelial transcription factor GATA-2; Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'; GATA zinc finger domain containing 9606.ENSP00000345702 NFYA 347 Nuclear transcription factor Y subunit alpha; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'- CCAAT-3' box motif found in the promoters of its target genes. NF- Y can function as both an activator and a repressor, depending on its interacting cofactors. NF-YA positively regulates the transcription of the core clock component ARNTL/BMAL1 9606.ENSP00000345708 KCNJ11 390 ATP-sensitive inward rectifier potassium channel 11; This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit [...] 9606.ENSP00000345716 NKAPL 402 NKAP-like protein; Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis 9606.ENSP00000345719 TOR1A 332 Torsin-1A; Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular traffickin [...] 9606.ENSP00000345728 ATP7A 1500 Copper-transporting ATPase 1; May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells; ATPase copper transporting 9606.ENSP00000345731 DLG1 926 Disks large homolog 1; Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel; Belongs to the MAGUK family 9606.ENSP00000345751 SCNN1B 640 Amiloride-sensitive sodium channel subunit beta; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception; Belongs to the amiloride-sensit [...] 9606.ENSP00000345752 MTMR2 643 Myotubularin-related protein 2; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate; Myotubularins 9606.ENSP00000345771 PFKM 851 ATP-dependent 6-phosphofructokinase, muscle type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily 9606.ENSP00000345772 TEAD3 435 Transcriptional enhancer factor TEF-5; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] 9606.ENSP00000345773 BEND7 468 BEN domain containing 7 9606.ENSP00000345774 ALDH3A2 508 Fatty aldehyde dehydrogenase; Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid 9606.ENSP00000345785 FZD9 591 Frizzled-9; Receptor for WNT2 that is coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively r [...] 9606.ENSP00000345793 ZC3H7B 977 Zinc finger CCCH domain-containing protein 7B; May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 'ATA(A/T)' motif in the apical loop; Tetratricopeptide repeat domain containing 9606.ENSP00000345797 KRBOX4 171 KRAB box domain containing 4 9606.ENSP00000345808 ARHGAP12 846 Rho GTPase-activating protein 12; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state; Pleckstrin homology domain containing 9606.ENSP00000345824 BZRAP1 1857 Benzodiazepine receptor (peripheral) associated protein 1; Belongs to the RIMBP family 9606.ENSP00000345826 PMEPA1 287 Protein TMEPAI; Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may [...] 9606.ENSP00000345837 DPY30 99 Protein dpy-30 homolog; As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport; Belongs to the dpy-30 family 9606.ENSP00000345848 ANP32B 251 Acidic leucine-rich nuclear phosphoprotein 32 family member B; Multifunctional protein working as a cell cycle progression factor as well as a cell survival factor. Required for the progression from the G1 to the S phase. Anti-apoptotic protein which functions as a caspase-3 inhibitor. Has no phosphatase 2A (PP2A) inhibitor activity (By similarity). Exhibits histone chaperone properties, stimulating core histones to assemble into a nucleosome; ANP32 acidic nuclear phosphoproteins 9606.ENSP00000345849 SPAM1 511 Hyaluronidase PH-20; Involved in sperm-egg adhesion. Upon fertilization sperm must first penetrate a layer of cumulus cells that surrounds the egg before reaching the zona pellucida. The cumulus cells are embedded in a matrix containing hyaluronic acid which is formed prior to ovulation. This protein aids in penetrating the layer of cumulus cells by digesting hyaluronic acid; Belongs to the glycosyl hydrolase 56 family 9606.ENSP00000345853 DUSP9 384 Dual specificity protein phosphatase 9; Inactivates MAP kinases. Has a specificity for the ERK family 9606.ENSP00000345868 GJB4 266 Gap junction beta-4 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Beta-type (group I) subfamily 9606.ENSP00000345873 SLC26A3 764 Chloride anion exchanger; Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation; Solute carriers 9606.ENSP00000345895 NUP50 468 Nuclear pore complex protein Nup50; Component of the nuclear pore complex that has a direct role in nuclear protein import. Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling. Interacts with regulatory proteins of cell cycle progression including CDKN1B (By similarity). This interaction is required for correct intracellular transport and degradation of CDKN1B (By similarity); Nucleoporins 9606.ENSP00000345917 LYAR 379 Cell growth-regulating nucleolar protein; Zinc fingers C2HC-type 9606.ENSP00000345957 RPS21 83 Ribosomal protein S21; Belongs to the eukaryotic ribosomal protein eS21 family 9606.ENSP00000345968 PGLYRP2 576 N-acetylmuramoyl-L-alanine amidase; May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity; Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family 9606.ENSP00000345972 C1orf168 728 FYN-binding protein 2; Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T- cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation 9606.ENSP00000345974 ENOSF1 450 Mitochondrial enolase superfamily member 1; Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto- 3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion 9606.ENSP00000345985 LRFN2 789 Leucine-rich repeat and fibronectin type-III domain-containing protein 2; Promotes neurite outgrowth in hippocampal neurons. Enhances the cell surface expression of 2 NMDA receptor subunits GRIN1 and GRIN2A. May play a role in redistributing DLG4 to the cell periphery (By similarity); Fibronectin type III domain containing 9606.ENSP00000345988 PLCH1 1693 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes; C2 domain containing phospholipases 9606.ENSP00000345997 DMPK 639 Myotonin-protein kinase; Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the expression of muscle-specific genes. May also phosphorylate PPP1R12A and inhibit the myosin phosphatase activity to regulate myosin phosphorylation. Also critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity probably through the regulation of cellular calcium homeo [...] 9606.ENSP00000346001 RPL3 403 60S ribosomal protein L3; The L3 protein is a component of the large subunit of cytoplasmic ribosomes; L ribosomal proteins 9606.ENSP00000346012 RPL36AL 106 Ribosomal protein L36a like 9606.ENSP00000346015 RPL27A 148 Ribosomal protein L27a; Belongs to the universal ribosomal protein uL15 family 9606.ENSP00000346027 RPL21 160 60S ribosomal protein L21; Component of the large ribosomal subunit 9606.ENSP00000346032 ANXA2 357 Annexin A2; Calcium-regulated membrane-binding protein whose affinity for calcium is greatly enhanced by anionic phospholipids. It binds two calcium ions with high affinity. May be involved in heat-stress response. Inhibits PCSK9-enhanced LDLR degradation, probably reduces PCSK9 protein levels via a translational mechanism but also competes with LDLR for binding with PCSK9; Belongs to the annexin family 9606.ENSP00000346037 RPLP1 114 60S acidic ribosomal protein P1; Plays an important role in the elongation step of protein synthesis; Belongs to the eukaryotic ribosomal protein P1/P2 family 9606.ENSP00000346046 RPS17 135 Ribosomal protein S17 9606.ENSP00000346050 RPS3A 264 40S ribosomal protein S3a; May play a role during erythropoiesis through regulation of transcription factor DDIT3; Belongs to the eukaryotic ribosomal protein eS1 family 9606.ENSP00000346065 TDRD6 2096 Tudor domain-containing protein 6; Involved in spermiogenesis, chromatoid body formation and for proper precursor and mature miRNA expression; Tudor domain containing 9606.ENSP00000346067 RPSA 295 40S ribosomal protein SA; Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA- precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Acts as a PPP1R16B-dependent substrate of PPP1CA 9606.ENSP00000346080 RPL22L1 122 Ribosomal protein L22 like 1; Belongs to the eukaryotic ribosomal protein eL22 family 9606.ENSP00000346088 RPL22 128 Ribosomal protein L22; Belongs to the eukaryotic ribosomal protein eL22 family 9606.ENSP00000346103 GPX4 197 Phospholipid hydroperoxide glutathione peroxidase, mitochondrial; Protects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage. Essential for maturation and survival of photoreceptor cells. Plays a role in a primary T cell response to viral and parasitic infection by protecting T cells from ferroptosis, a cell death resulting from an iron-depende [...] 9606.ENSP00000346112 SLC12A6 1150 Solute carrier family 12 member 6; Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells; Belongs to the SLC12A transporter family 9606.ENSP00000346120 DDX21 783 Nucleolar RNA helicase 2; RNA helicase that acts as a sensor of the transcriptional status of both RNA polymerase (Pol) I and II: promotes ribosomal RNA (rRNA) processing and transcription from polymerase II (Pol II). Binds various RNAs, such as rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs. In the nucleolus, localizes to rDNA locus, where it directly binds rRNAs and snoRNAs, and promotes rRNA transcription, processing and modification. Required for rRNA 2'- O-methylation, possibly by promoting the recruitment of late- acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes. [...] 9606.ENSP00000346127 PLEKHB1 243 Pleckstrin homology domain-containing family B member 1; Required for proper localization of retinogeniculate projections but not for eye-specific segregation; Pleckstrin homology domain containing 9606.ENSP00000346130 SVIP 77 Small VCP interacting protein; Belongs to the SVIP family 9606.ENSP00000346139 TBC1D20 403 TBC1 domain family member 20; GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude 9606.ENSP00000346148 PRKAA1 574 5'-AMP-activated protein kinase catalytic subunit alpha-1; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts a [...] 9606.ENSP00000346151 MAGI2 1455 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2; Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth; Membrane associated guanylate kinases 9606.ENSP00000346155 UCKL1 548 Uridine-cytidine kinase-like 1; May contribute to UTP accumulation needed for blast transformation and proliferation 9606.ENSP00000346158 REG4 158 Regenerating islet-derived protein 4; Calcium-independent lectin displaying mannose-binding specificity and able to maintain carbohydrate recognition activity in an acidic environment. May be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium; C-type lectin domain containing 9606.ENSP00000346160 DUSP19 217 Dual specificity protein phosphatase 19; Has a dual specificity toward Ser/Thr and Tyr-containing proteins; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000346173 ETFB 346 Electron transfer flavoprotein subunit beta; Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism. ETFB binds an AMP molecule that probably has a purely structural role 9606.ENSP00000346175 SETDB2 719 Histone-lysine N-methyltransferase SETDB2; Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis; Lysine methyltransferases 9606.ENSP00000346196 NDUFV3 473 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I 9606.ENSP00000346206 TAP1 808 Antigen peptide transporter 1; Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation [...] 9606.ENSP00000346240 FBXO2 296 F-box only protein 2; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Involved in the endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Prevents formation of cytosolic aggregates of unfolded glycoproteins that have been retrotrans [...] 9606.ENSP00000346251 BPIFA1 256 BPI fold-containing family A member 1; Plays a role in the innate immune responses of the upper airways. Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae. Binds bacterial lipopolysaccharide (LPS). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus. Plays a role in the airway inflammatory [...] 9606.ENSP00000346255 PPTC7 304 PTC7 protein phosphatase homolog 9606.ENSP00000346265 SYT5 386 Synaptotagmin-5; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)- dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface (By similarity); Synaptotagmins 9606.ENSP00000346275 PRAMEF20 475 PRAME family member 20; Belongs to the PRAME family 9606.ENSP00000346280 DUS1L 473 tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like; Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs 9606.ENSP00000346283 HRCT1 115 Histidine rich carboxyl terminus 1 9606.ENSP00000346298 SLC6A20 592 Sodium- and chloride-dependent transporter XTRP3; Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N- methylated amino acids. Involved in the transport of glycine; Solute carriers 9606.ENSP00000346300 CRKL 303 Crk-like protein; May mediate the transduction of intracellular signals; SH2 domain containing 9606.ENSP00000346335 NRDE2 1164 Protein NRDE2 homolog; NRDE-2, necessary for RNA interference, domain containing; Belongs to the NRDE2 family 9606.ENSP00000346340 COPS8 209 COP9 signalosome complex subunit 8; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-d [...] 9606.ENSP00000346342 RFPL1 317 Ret finger protein like 1; Ring finger proteins 9606.ENSP00000346345 C9orf163 203 Uncharacterized protein C9orf163; Chromosome 9 open reading frame 163 9606.ENSP00000346348 ZNF774 483 Zinc finger protein 774; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000346359 KIAA0586 1644 Protein TALPID3; Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation. Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity); Belongs to the TALPID3 family 9606.ENSP00000346378 APBB3 493 Amyloid-beta A4 precursor protein-binding family B member 3; May modulate the internalization of amyloid-beta precursor protein 9606.ENSP00000346389 MEF2A 499 Myocyte-specific enhancer factor 2A; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylat [...] 9606.ENSP00000346414 LRRIQ3 624 Leucine rich repeats and IQ motif containing 3 9606.ENSP00000346437 ATG7 703 Ubiquitin-like modifier-activating enzyme ATG7; E1-like activating enzyme involved in the 2 ubiquitin- like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondri [...] 9606.ENSP00000346442 LRMP 499 Lymphoid-restricted membrane protein; Plays a role in the delivery of peptides to major histocompatibility complex (MHC) class I molecules; this occurs in a transporter associated with antigen processing (TAP)-independent manner. May play a role in taste signal transduction via ITPR3. May play a role during fertilization in pronucleus congression and fusion 9606.ENSP00000346453 IPO4 1081 Importin-4; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...] 9606.ENSP00000346464 VPS72 375 Vacuolar protein sorting-associated protein 72 homolog; Deposition-and-exchange histone chaperone specific for H2AFZ, specifically chaperones H2AFZ and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP- dependent exchange of histone H2AFZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling 9606.ENSP00000346466 WDR91 747 WD repeat-containing protein 91; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport. It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome. May play a role in meiosis (By similarity); Belongs to t [...] 9606.ENSP00000346478 ADAMTSL2 951 ADAMTS-like protein 2; ADAMTS like 2 9606.ENSP00000346483 DDRGK1 314 DDRGK domain-containing protein 1; Protein which interacts with the E3 UFM1-protein ligase UFL1 and one of its substrates TRIP4 and is required for TRIP4 ufmylation. Through TRIP4 ufmylation may regulate nuclear receptors-mediated transcription. May play a role in NF-kappa-B-mediated transcription through regulation of the phosphorylation and the degradation of NFKBIA, the inhibitor of NF-kappa-B. May also play a role in the cellular response to endoplasmic reticulum stress (By similarity) 9606.ENSP00000346484 MAK 648 Serine/threonine-protein kinase MAK; Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells 9606.ENSP00000346508 PDGFA 211 Platelet-derived growth factor subunit A; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal lung alveolar septum formation during embryogenesis, normal development of the gastrointestinal tract, normal development of Leydig cells and spermatogenesis. Required for normal oligodendrocyte development and normal myelination in the spinal cord and cerebellum. Plays an important role in wound healing. Signaling is modulated by t [...] 9606.ENSP00000346509 H2AFB2 115 H2A histone family, member B2; Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and a [...] 9606.ENSP00000346534 SCN8A 1980 Sodium channel protein type 8 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily 9606.ENSP00000346536 KRTAP23-1 65 Keratin-associated protein 23-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000346537 SMOC2 457 SPARC-related modular calcium-binding protein 2; Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis; SPARC family 9606.ENSP00000346550 ANXA6 673 Annexin A6; May associate with CD21. May regulate the release of Ca(2+) from intracellular stores; Annexins 9606.ENSP00000346560 FILIP1L 1135 Filamin A-interacting protein 1-like; Acts as a regulator of the antiangiogenic activity on endothelial cells. When overexpressed in endothelial cells, leads to inhibition of cell proliferation and migration and an increase in apoptosis. Inhibits melanoma growth When expressed in tumor- associated vasculature 9606.ENSP00000346575 OR5H1 313 Olfactory receptor 5H1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000346577 AK5 562 Adenylate kinase isoenzyme 5; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, the enzyme phosphorylates AMP, CMP, and to a small extent dCMP. Also displays broad nucleoside diphosphate kinase activity; Adenylate kinases 9606.ENSP00000346599 STYX 223 Serine/threonine/tyrosine-interacting protein; Catalytically inactive phosphatase. Acts as a nuclear anchor for MAPK1/MAPK3 (ERK1/ERK2). Modulates cell-fate decisions and cell migration by spatiotemporal regulation of MAPK1/MAPK3 (ERK1/ERK2). Seems to play a role in spermiogenesis (By similarity); Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily 9606.ENSP00000346611 OR8B3 313 Olfactory receptor 8B3; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000346627 TYW5 315 tRNA wybutosine-synthesizing protein 5; tRNA hydroxylase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the hydroxylation of 7-(a-amino-a-carboxypropyl)wyosine (yW-72) into undermodified hydroxywybutosine (OHyW*). OHyW* being further transformed into hydroxywybutosine (OHyW) by LCMT2/TYW4. OHyW is a derivative of wybutosine found in higher eukaryotes; Belongs to the TYW5 family 9606.ENSP00000346634 THRAP3 955 Thyroid hormone receptor-associated protein 3; Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Involved in cyclin-D1/CCND1 mRNA s [...] 9606.ENSP00000346635 ERO1LB 467 ERO1-like protein beta; Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive o [...] 9606.ENSP00000346643 HKDC1 917 Putative hexokinase HKDC1; Hexokinase domain containing 1 9606.ENSP00000346644 RPS6KL1 549 Ribosomal protein S6 kinase like 1; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. S6 kinase subfamily 9606.ENSP00000346659 OCA2 838 P protein; Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color; Belongs to the CitM (TC 2.A.11) transporter family 9606.ENSP00000346667 WNK3 1800 Serine/threonine-protein kinase WNK3; Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Phosphorylates WNK4. Regulates the phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway. Inhibits the activity of KCNJ1 by decreasing its expression at the ce [...] 9606.ENSP00000346671 FYN 537 Tyrosine-protein kinase Fyn; Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signaling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions. Involved in the regulation of cell adhesion and motility through [...] 9606.ENSP00000346693 ELOVL2 296 Elongation of very long chain fatty acids protein 2; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n- 6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate in the production of polyuns [...] 9606.ENSP00000346694 HNRNPA2B1 353 Heterogeneous nuclear ribonucleoproteins A2/B1; Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non- random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs. Forms hnRNP particles with at least 20 other different hnRNP and h [...] 9606.ENSP00000346697 BMF 184 Bcl-2-modifying factor; May play a role in apoptosis. Isoform 1 seems to be the main initiator; BCL2 homology region 3 only 9606.ENSP00000346725 PES1 588 Pescadillo homolog; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome; Belongs to the pescadillo family 9606.ENSP00000346729 ZNF589 364 Zinc finger protein 589; May play a role in hematopoietic stem/progenitor cell differentiation. May play a role as a DNA binding-dependent transcriptional repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000346733 ACAP3 834 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3; GTPase-activating protein for the ADP ribosylation factor family; Ankyrin repeat domain containing 9606.ENSP00000346762 SND1 910 Staphylococcal nuclease domain-containing protein 1; Functions as a bridging factor between STAT6 and the basal transcription factor. Plays a role in PIM1 regulation of MYB activity. Functions as a transcriptional coactivator for the Epstein-Barr virus nuclear antigen 2 (EBNA2); Tudor domain containing 9606.ENSP00000346768 UGT1A9 530 UDP-glucuronosyltransferase 1-9; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 9606.ENSP00000346802 PCDHB11 797 Protocadherin beta-11; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000346805 CRYBA4 196 Beta-crystallin A4; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family 9606.ENSP00000346809 PGAP1 922 GPI inositol-deacylase; Involved in inositol deacylation of GPI-anchored proteins. GPI inositol deacylation may important for efficient transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi (By similarity) 9606.ENSP00000346827 ALDH9A1 518 4-trimethylaminobutyraldehyde dehydrogenase; Converts gamma-trimethylaminobutyraldehyde into gamma- butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction 9606.ENSP00000346829 WLS 543 Protein wntless homolog; Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins. Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity) 9606.ENSP00000346839 FN1 2477 Fibronectin type III domain containing; Endogenous ligands 9606.ENSP00000346874 FAR1 515 Fatty acyl-CoA reductase 1; Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols. In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity) 9606.ENSP00000346879 NKX2-1 401 Homeobox protein Nkx-2.1; Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptio [...] 9606.ENSP00000346886 GABPA 454 GA-binding protein alpha chain; Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene; Belongs to the ETS family 9606.ENSP00000346890 NRD1 1219 Nardilysin; Cleaves peptide substrates on the N-terminus of arginine residues in dibasic pairs; Belongs to the peptidase M16 family 9606.ENSP00000346892 SERF1A 110 Small EDRK-rich factor 1A; Belongs to the SERF family 9606.ENSP00000346916 ENSG00000258588 842 Tripartite motif-containing protein 34; May function as antiviral protein and may contribute to the defense against retroviral infections; Belongs to the TRIM/RBCC family 9606.ENSP00000346921 AK2 239 Adenylate kinase 2, mitochondrial; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis 9606.ENSP00000346927 NAT6 308 N-acetyltransferase 6; Seems to be involved in N-acetylation. Acts on peptides with a N-terminal Met followed by Asp/Glu/Asn. May act as a tumor suppressor; Belongs to the acetyltransferase family 9606.ENSP00000346931 C6orf120 191 UPF0669 protein C6orf120; May be involved in induction of apoptosis in CD4(+) T- cells, but not CD8(+) T-cells or hepatocytes 9606.ENSP00000346954 TMEM205 189 Transmembrane protein 205; In cancer cells, plays a role in resistance to the chemotherapeutic agent cisplatin 9606.ENSP00000346955 SLC25A26 274 S-adenosylmethionine mitochondrial carrier protein; Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S- adenosylmethionine (SAM) into the mitochondria 9606.ENSP00000346959 SLC38A6 521 Probable sodium-coupled neutral amino acid transporter 6; Probable sodium-dependent amino acid/proton antiporter, could be a neuronal transporter for glutamate; Solute carriers 9606.ENSP00000346964 EGFLAM 1017 Pikachurin; Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity); Fibronectin type III domain containing 9606.ENSP00000346981 TMEM207 146 Transmembrane protein 207 9606.ENSP00000346986 WAC 647 WW domain-containing adapter protein with coiled-coil; Acts as a linker between gene transcription and histone H2B monoubiquitination at 'Lys-120' (H2BK120ub1). Interacts with the RNA polymerase II transcriptional machinery via its WW domain and with RNF20-RNF40 via its coiled coil region, thereby linking and regulating H2BK120ub1 and gene transcription. Regulates the cell-cycle checkpoint activation in response to DNA damage. Positive regulator of amino acid starvation- induced autophagy. Also acts as a negative regulator of basal autophagy. Positively regulates MTOR activity by promo [...] 9606.ENSP00000346990 SCARA5 495 Scavenger receptor class A member 5; Ferritin receptor that mediates non-transferrin- dependent delivery of iron. Mediates cellular uptake of ferritin- bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type- specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the [...] 9606.ENSP00000346997 SUV39H2 410 Histone-lysine N-methyltransferase SUV39H2; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys- 9' as substrate. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric r [...] 9606.ENSP00000347003 OR5K4 321 Olfactory receptor 5K4; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000347005 CGI-74 392 Putative RNA-binding protein Luc7-like 2; May bind to RNA via its Arg/Ser-rich domain 9606.ENSP00000347032 PIP4K2C 421 Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma; May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum 9606.ENSP00000347038 PLSCR4 329 Phospholipid scramblase 4; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system 9606.ENSP00000347041 FMOD 376 Fibromodulin; Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity); Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily 9606.ENSP00000347043 ZNF649 505 Zinc finger protein 649; Transcriptional repressor. Regulator of transcriptional factor complexes and may suppress SRE and AP-1 transcription activities mediated by growth factor signaling pathways; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000347046 PDE5A 875 cGMP-specific 3',5'-cyclic phosphodiesterase; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'- GMP. Specifically regulates nitric-oxide-generated cGMP; Phosphodiesterases 9606.ENSP00000347055 MYL4 197 Myosin light chain 4; Regulatory light chain of myosin. Does not bind calcium; EF-hand domain containing 9606.ENSP00000347088 LARGE 756 LARGE xylosyl- and glucuronyltransferase 1; Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine- beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O- mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongat [...] 9606.ENSP00000347119 H2BFM 154 Histone H2B type F-M; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000347134 NET1 596 Neuroepithelial cell-transforming gene 1 protein; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. May be involved in activation of the SAPK/JNK pathway Stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death; Pleckstrin homology domain containing 9606.ENSP00000347140 ASGR2 311 Asialoglycoprotein receptor 2; Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface; C-type lectin domain containing 9606.ENSP00000347152 ATRNL1 1379 Attractin-like protein 1; May play a role in melanocortin signaling pathways that regulate energy homeostasis; C-type lectin domain containing 9606.ENSP00000347168 HIST1H4J 103 Histone cluster 1 H4 family member j; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000347170 NEIL1 390 Endonuclease 8-like 1; Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8- oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and 5'-phosphates. Has DNA glycosylase/l [...] 9606.ENSP00000347184 HTT 3142 Huntingtin; May play a role in microtubule-mediated transport or vesicle function; Belongs to the huntingtin family 9606.ENSP00000347188 KCTD6 237 BTB/POZ domain-containing protein KCTD6; Probable substrate-specific adapter of a BCR (BTB-CUL3- RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1; the function seems to depend on KCTD11:KCTD6 oligomerization. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblasto [...] 9606.ENSP00000347195 TMEM110 294 TMEM110-MUSTN1 readthrough; Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER. SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts by interacting with STIM1, promoting STIM1 conformational switch. Involved in STIM1 relocalization to ER-PM junctions. Contributes to the maintenance and reorganization of store- dependent ER-PM junctions 9606.ENSP00000347197 C5AR1 350 C5a anaphylatoxin chemotactic receptor 1; Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a. The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N-terminus, and a second site in the transmembrane region which activates downstream signaling events. Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production; CD molecules 9606.ENSP00000347198 SRGAP1 1085 SLIT-ROBO Rho GTPase-activating protein 1; GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42; F-BAR domain containing 9606.ENSP00000347206 GPAA1 621 Glycosylphosphatidylinositol anchor attachment 1 protein; Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate 9606.ENSP00000347211 ENSG00000239810 436 PRAME family member 11 9606.ENSP00000347213 ENTPD2 495 Ectonucleoside triphosphate diphosphohydrolase 2; In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Hydrolyzes ADP only to a marginal extent. The order of activity with different substrates is ATP > GTP > CTP = ITP > UTP >> ADP = UDP 9606.ENSP00000347224 GPBP1L1 474 Vasculin-like protein 1; Possible transcription factor 9606.ENSP00000347232 BLM 1417 Bloom syndrome protein; ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction; RecQ like helicases 9606.ENSP00000347244 ITSN2 1697 Intersectin-2; Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes; C2 domain containing 9606.ENSP00000347277 MRPL52 123 Mitochondrial ribosomal protein L52 9606.ENSP00000347298 C2orf27A 203 Uncharacterized protein C2orf27; Chromosome 2 open reading frame 27A 9606.ENSP00000347322 C6orf89 354 Bombesin receptor-activated protein C6orf89; Exhibits histone deacetylase (HDAC) enhancer properties. May play a role in cell cycle progression and wound repair of bronchial epithelial cells 9606.ENSP00000347324 MSRB3 192 Methionine-R-sulfoxide reductase B3; Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing; Deafness associated genes 9606.ENSP00000347338 ZNF607 696 Zinc finger protein 607; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000347345 POLR3H 204 DNA-directed RNA polymerase III subunit RPC8; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Ep [...] 9606.ENSP00000347358 MAGEA11 429 Melanoma-associated antigen 11; Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression; MAGE family 9606.ENSP00000347379 OCLN 522 Occludin; May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions; Protein phosphatase 1 regulatory subunits 9606.ENSP00000347408 AP3M1 418 AP-3 complex subunit mu-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals; Belongs to the adaptor complexes medium subunit family 9606.ENSP00000347409 KEL 732 Kell blood group glycoprotein; Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3; Blood group antigens 9606.ENSP00000347416 AP3D1 1215 AP-3 complex subunit delta-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity); Belongs to the adaptor complexes [...] 9606.ENSP00000347418 OR5H2 314 Olfactory receptor 5H2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000347427 MINK1 1332 Misshapen-like kinase 1; Serine/threonine kinase which acts as a negative regulator of Ras-related Rap2-mediated signal transduction to control neuronal structure and AMPA receptor trafficking. Required for normal synaptic density, dendrite complexity, as well as surface AMPA receptor expression in hippocampal neurons. Can activate the JNK and MAPK14/p38 pathways and mediates stimulation of the stress-activated protein kinase MAPK14/p38 MAPK downstream of the Raf/ERK pathway. Phosphorylates: TANC1 upon stimulation by RAP2A, MBP and SMAD1. Has an essential function in negative selection [...] 9606.ENSP00000347428 OR2L5 312 Olfactory receptor 2L5; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000347433 APCDD1 514 Protein APCDD1; Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis; Belongs to the APCDD1 family 9606.ENSP00000347444 TDRD7 1098 Tudor domain-containing protein 7; Component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes: probably acts by binding to specific mRNAs and regulating their translation. Required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 and HSPB1 in the developing lens. Also required during spermatogenesis; Belongs to the TDRD7 family 9606.ENSP00000347451 LINGO1 620 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1; Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors. Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination. Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity); I-set domain containing 9606.ENSP00000347454 ANO1 986 Anoctamin-1; Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development; Belongs to the anoctamin family 9606.ENSP00000347464 GIT2 759 ARF GTPase-activating protein GIT2; GTPase-activating protein for the ADP ribosylation factor family; Ankyrin repeat domain containing 9606.ENSP00000347484 THSD4 1018 Thrombospondin type-1 domain-containing protein 4; Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity); ADAMTS like 9606.ENSP00000347486 MORN3 240 MORN repeat containing 3 9606.ENSP00000347495 WARS 471 Tryptophan--tRNA ligase, cytoplasmic; Isoform 1, isoform 2 and T1-TrpRS have aminoacylation activity while T2-TrpRS lacks it. Isoform 2, T1-TrpRS and T2-TrpRS possess angiostatic activity whereas isoform 1 lacks it. T2-TrpRS inhibits fluid shear stress-activated responses of endothelial cells. Regulates ERK, Akt, and eNOS activation pathways that are associated with angiogenesis, cytoskeletal reorganization and shear stress-responsive gene expression; Belongs to the class-I aminoacyl-tRNA synthetase family 9606.ENSP00000347498 ZFYVE19 471 Abscission/NoCut checkpoint regulator; Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission [...] 9606.ENSP00000347507 MYH7 1935 Myosin-7; Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000347532 KIAA1598 631 Shootin-1; Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Pla [...] 9606.ENSP00000347538 SYT17 474 Synaptotagmin-17; Plays a role in dendrite formation by melanocytes; Belongs to the synaptotagmin family 9606.ENSP00000347548 RNF220 566 E3 ubiquitin-protein ligase RNF220; E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling; Ring finger proteins 9606.ENSP00000347581 AGK 422 Acylglycerol kinase, mitochondrial; Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Independently of its lipid kinase activity, acts as a component of the TIM22 complex. The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, required for the import of a su [...] 9606.ENSP00000347583 MFSD12 480 Major facilitator superfamily domain containing 12 9606.ENSP00000347586 CCDC69 296 Coiled-coil domain-containing protein 69; May act as a scaffold to regulate the recruitment and assembly of spindle midzone components. Required for the localization of AURKB and PLK1 to the spindle midzone 9606.ENSP00000347591 GFRA1 465 GDNF family receptor alpha-1; Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity); Belongs to the GDNFR family 9606.ENSP00000347602 ARID4A 1257 AT-rich interactive domain-containing protein 4A; Interacts with the viral protein-binding domain of the retinoblastoma protein; AT-rich interaction domain containing 9606.ENSP00000347626 NUDCD3 361 NudC domain containing 3 9606.ENSP00000347635 KRTAP13-1 172 Keratin-associated protein 13-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000347646 SOX12 315 Transcription factor SOX-12; Binds to the sequence 5'-AACAAT-3'; SRY-boxes 9606.ENSP00000347648 ZNF512 567 Zinc finger protein 512; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000347649 LEPREL4 437 Endoplasmic reticulum protein SC65; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly; Belongs to the leprecan family 9606.ENSP00000347665 COL18A1 1519 Collagen alpha-1(XVIII) chain; Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube; Belongs to the multiplexin collagen family 9606.ENSP00000347672 VANGL1 524 VANGL planar cell polarity protein 1 9606.ENSP00000347684 LMX1B 406 LIM homeobox transcription factor 1-beta; Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels; LIM class homeoboxes 9606.ENSP00000347689 PDE4C 712 cAMP-specific 3',5'-cyclic phosphodiesterase 4C; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes; Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily 9606.ENSP00000347710 OPHN1 802 Oligophrenin-1; Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity); BAR-PH domain containing 9606.ENSP00000347712 C2CD4A 369 C2 calcium-dependent domain-containing protein 4A; May be involved in inflammatory process. May regulate cell architecture and adhesion; Belongs to the C2CD4 family 9606.ENSP00000347714 FCAR 287 Immunoglobulin alpha Fc receptor; Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production; CD molecules 9606.ENSP00000347716 DPF1 414 D4 zinc and double PHD fingers family 1 variant 4; Double PHD fingers 1; BAF complex 9606.ENSP00000347717 DHCR7 475 7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC); Belongs to the ERG4/ERG24 family 9606.ENSP00000347719 TBCD 1192 Tubulin-specific chaperone D; Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epi [...] 9606.ENSP00000347721 SPNS3 512 Protein spinster homolog 3; Sphingolipid transporter 9606.ENSP00000347730 ZNF536 1300 Zinc finger protein 536; May be involved in transcriptional regulation. Recognizes and binds 2 copies of the core DNA sequence 5'-CCCCCA- 3'; Zinc fingers C2H2-type 9606.ENSP00000347739 ENSG00000213599 295 SLX1A-SULT1A3 readthrough 9606.ENSP00000347742 PDZD3 505 Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation. Stimulates SLC9A3 activity in the presence of elevated calcium ions; PDZ domain containing 9606.ENSP00000347748 TPRA1 373 Transmembrane protein adipocyte associated 1; 7TM orphan receptors 9606.ENSP00000347754 HTR3A 516 5-hydroxytryptamine receptor 3A; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses in neurons. It is a cation-specific, but otherwise relatively nonselective, ion channel; 5-hydroxytryptamine receptors, ionotropic 9606.ENSP00000347755 ZNF140 457 Zinc finger protein 140; May be involved in transcriptional regulation as a repressor; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000347767 NEK5 708 Serine/threonine-protein kinase Nek5; NIMA related kinase 5; Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily 9606.ENSP00000347792 SYNJ2 1496 Synaptojanin-2; Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis; Belongs to the synaptojanin family 9606.ENSP00000347802 ANKRD35 1001 Ankyrin repeat domain-containing protein 35; Ankyrin repeat domain containing 9606.ENSP00000347810 DEFB107B 70 Beta-defensin 107; Has antibacterial activity; Defensins, beta 9606.ENSP00000347821 MORC4 937 MORC family CW-type zinc finger 4 9606.ENSP00000347823 KRT39 491 Keratin, type I cytoskeletal 39; May play a role in late hair differentiation; Belongs to the intermediate filament family 9606.ENSP00000347834 FBXL3 428 F-box/LRR-repeat protein 3; Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation. The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2. Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex; F-box and leucine rich repeat proteins 9606.ENSP00000347836 UBE2H 183 Ubiquitin-conjugating enzyme E2 H; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A; Ubiquitin conjugating enzymes E2 9606.ENSP00000347839 RAB11FIP2 512 Rab11 family-interacting protein 2; A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator [...] 9606.ENSP00000347847 MKL1 931 MKL/myocardin-like protein 1; Transcriptional coactivator of serum response factor (SRF) with the potential to modulate SRF target genes. Suppresses TNF-induced cell death by inhibiting activation of caspases; its transcriptional activity is indispensable for the antiapoptotic function. It may up-regulate antiapoptotic molecules, which in turn inhibit caspase activation (By similarity); Myocardin family 9606.ENSP00000347852 SORBS2 1200 Sorbin and SH3 domain-containing protein 2; Adapter protein that plays a role in the assembling of signaling complexes, being a link between ABL kinases and actin cytoskeleton. Can form complex with ABL1 and CBL, thus promoting ubiquitination and degradation of ABL1 or with AKT1 and PAK1, thus mediating AKT1-mediated activation of PAK1. May play a role in the regulation of pancreatic cell adhesion, possibly by acting on WASF1 phosphorylation, enhancing phosphorylation by ABL1, as well as dephosphorylation by PTPN12. Isoform 6 increases water and sodium absorption in the intestine and g [...] 9606.ENSP00000347872 VAT1 393 Synaptic vesicle membrane protein VAT-1 homolog; Possesses ATPase activity (By similarity). Plays a part in calcium-regulated keratinocyte activation in epidermal repair mechanisms. Has no effect on cell proliferation. Negatively regulates mitochondrial fusion in cooperation with mitofusin proteins (MFN1-2) 9606.ENSP00000347883 PLEKHA7 1121 Pleckstrin homology domain-containing family A member 7; Required for zonula adherens biogenesis and maintenance. Acts via its interaction with KIAA1543/Nezha, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site; Pleckstrin homology domain containing 9606.ENSP00000347896 MBD6 1003 Methyl-CpG-binding domain protein 6; Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro); Methyl-CpG binding domain containing 9606.ENSP00000347915 TTC30A 665 Tetratricopeptide repeat protein 30A; Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip 9606.ENSP00000347916 CLEC12A 275 C-type lectin domain family 12 member A; Cell surface receptor that modulates signaling cascades and mediates tyrosine phosphorylation of target MAP kinases; C-type lectin domain containing 9606.ENSP00000347919 COA4 87 Cytochrome c oxidase assembly factor 4 homolog, mitochondrial; Putative COX assembly factor; Belongs to the COA4 family 9606.ENSP00000347924 SFXN4 337 Sideroflexin-4; Potential iron transporter; Belongs to the sideroflexin family 9606.ENSP00000347931 PCNXL3 2034 Pecanex-like 3 (Drosophila); Belongs to the pecanex family 9606.ENSP00000347933 PLGLB1 96 Plasminogen-like B1; May bind noncovalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction 9606.ENSP00000347942 RET 1114 Proto-oncogene tyrosine-protein kinase receptor Ret; Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the f [...] 9606.ENSP00000347948 TNFRSF14 283 Tumor necrosis factor receptor superfamily member 14; Receptor for BTLA. Receptor for TNFSF14/LIGHT and homotrimeric TNFSF1/lymphotoxin-alpha. Involved in lymphocyte activation. Plays an important role in HSV pathogenesis because it enhanced the entry of several wild-type HSV strains of both serotypes into CHO cells, and mediated HSV entry into activated human T-cells; CD molecules 9606.ENSP00000347965 OR2T6 308 Olfactory receptor 2T6; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000347978 ERCC5 1186 DNA repair protein complementing XP-G cells; Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too; Belongs to the XPG/RAD2 endonuclease family. XPG subfamily 9606.ENSP00000347979 FAS 335 Tumor necrosis factor receptor superfamily member 6; Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death- inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS- mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro); CD molecules 9606.ENSP00000347997 UBQLN3 655 Ubiquilin-3; Ubiquilin family 9606.ENSP00000348010 PRPF39 669 Pre-mRNA-processing factor 39; Involved in pre-mRNA splicing; Belongs to the PRP39 family 9606.ENSP00000348019 SLC17A5 495 Sialin; Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential- dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva; Belongs to the major facilitator [...] 9606.ENSP00000348020 MLH3 1453 DNA mismatch repair protein Mlh3; Probably involved in the repair of mismatches in DNA; MutL homologs 9606.ENSP00000348033 OR11L1 322 Olfactory receptor 11L1; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000348043 LRRC20 184 Leucine-rich repeat-containing protein 20; Leucine rich repeat containing 20 9606.ENSP00000348050 MXRA7 204 Matrix-remodeling-associated protein 7; Matrix remodeling associated 7 9606.ENSP00000348054 COMMD6 98 COMM domain containing 6; CCC complex 9606.ENSP00000348056 UBE2I 158 SUMO-conjugating enzyme UBC9; Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3 and SUMO4 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2, CBX4 and ZNF451. Can catalyze the formation of poly-SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. Sumoylates p53/TP53 at 'Lys-386'; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000348064 ART3 389 ADP-ribosyltransferase 3 9606.ENSP00000348069 SREBF1 1177 Sterol regulatory element-binding protein 1; Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3'); Basic helix-loop-helix proteins 9606.ENSP00000348074 CLEC9A 241 C-type lectin domain family 9 member A; Functions as an endocytic receptor on a small subset of myeloid cells specialized for the uptake and processing of material from dead cells. Recognizes filamentous form of actin in association with particular actin-binding domains of cytoskeletal proteins, including spectrin, exposed when cell membranes are damaged, and mediate the cross-presentation of dead-cell associated antigens in a Syk-dependent manner; C-type lectin domain containing 9606.ENSP00000348086 FAM227A 646 Protein FAM227A; Family with sequence similarity 227 member A 9606.ENSP00000348089 ERCC6 1493 DNA excision repair protein ERCC-6; Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase I [...] 9606.ENSP00000348099 PDLIM7 457 PDZ and LIM domain protein 7; May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity) 9606.ENSP00000348107 C1D 141 Nuclear nucleic acid-binding protein C1D; Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity) 9606.ENSP00000348108 KHDRBS3 346 KH domain-containing, RNA-binding, signal transduction-associated protein 3; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6. Involved in splice site selection of vascular endothelial growth factor. In vitro regulates CD44 alternative splicing by direct [...] 9606.ENSP00000348128 SVIL 2214 Supervillin; Isoform 1: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function; Belongs to the villin/gelsolin family 9606.ENSP00000348129 WDR88 472 WD repeat-containing protein 88; WD repeat domain containing 9606.ENSP00000348132 STK31 1019 Serine/threonine kinase 31; Tudor domain containing 9606.ENSP00000348145 C14orf178 122 Uncharacterized protein C14orf178; Chromosome 14 open reading frame 178 9606.ENSP00000348161 GPR160 338 Probable G-protein coupled receptor 160; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000348163 PLS3 630 Plastin-3; Actin-bundling protein found in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia. May play a role in the regulation of bone development; EF-hand domain containing 9606.ENSP00000348168 GTF2E2 291 Transcription initiation factor IIE subunit beta; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase; General transcription factors 9606.ENSP00000348170 HP 406 Haptoglobin; As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidely cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation [...] 9606.ENSP00000348206 SLMO2 194 PRELI domain containing protein 3B; Slowmo homolog 2 (Drosophila) 9606.ENSP00000348211 SLC25A46 418 Solute carrier family 25 member 46; May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000348215 SH3PXD2A 1105 SH3 and PX domain-containing protein 2A; Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide 9606.ENSP00000348216 TRIM4 500 E3 ubiquitin-protein ligase TRIM4; E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination of the innate immune receptor DDX58, this linkage doesn't lead to proteasomal degradation but seems to enhance IFN induction; Belongs to the TRIM/RBCC family 9606.ENSP00000348234 TAT 454 Tyrosine aminotransferase; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine 9606.ENSP00000348278 STK39 545 STE20/SPS1-related proline-alanine-rich protein kinase; May act as a mediator of stress-activated signals. Mediates the inhibiton of SLC4A4, SLC26A6 as well as CFTR activities by the WNK scaffolds, probably through phosphorylation 9606.ENSP00000348299 TRIM13 410 E3 ubiquitin-protein ligase TRIM13; E3 ubiquitin ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER-associated degradation (ERAD). This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins. Enhances ionizing radiation-induced p53/TP53 stability and apoptosis via ubiquitinating MDM2 and AKT1 and decreasing AKT1 kinase activity through MDM2 and AKT1 proteasomal degradation. Regulates ER stress-induced autophagy, and may act as a tumor suppressor; Belon [...] 9606.ENSP00000348300 BTG4 223 Protein BTG4; Shows marked antiproliferative activity, being able to induce G(1) arrest; BTG/Tob family 9606.ENSP00000348308 MMP23B 390 Matrix metalloproteinase-23; Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity); Immunoglobulin like domain containing 9606.ENSP00000348314 SPEF2 1822 Sperm flagellar protein 2; Required for correct axoneme development 9606.ENSP00000348316 HN1 181 Jupiter microtubule associated homolog 1; Modulates negatively AKT-mediated GSK3B signaling. Induces CTNNB1 'Ser-33' phosphorylation and degradation through the suppression of the inhibitory 'Ser-9' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions. Plays a role in the regulation of cell cycle and cell adhesion. Has an inhibitory role on AR- signaling pathway through the induction of receptor proteosomal degradation; Belongs to the JUPITER family 9606.ENSP00000348337 ATP11AUN 121 Putative protein ATP11AUN; ATP11A upstream neighbor 9606.ENSP00000348349 MYO9A 2548 Unconventional myosin-IXa; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Regulates Rho activity in neurons, has a role in the regulation of neuronal morphology and function (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000348368 OR52R1 315 Olfactory receptor 52R1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000348380 CYP20A1 462 Cytochrome P450 family 20 subfamily A member 1 9606.ENSP00000348381 ADD3 706 Gamma-adducin; Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping. Binds to calmodulin; Belongs to the aldolase class II family. Adducin subfamily 9606.ENSP00000348385 COL27A1 1860 Collagen alpha-1(XXVII) chain; Plays a role during the calcification of cartilage and the transition of cartilage to bone; Belongs to the fibrillar collagen family 9606.ENSP00000348395 NPEPL1 523 Probable aminopeptidase NPEPL1; Probably catalyzes the removal of unsubstituted N- terminal amino acids from various peptides; Aminopeptidases 9606.ENSP00000348419 ZNF44 663 Zinc finger protein 44; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000348429 ACSL5 739 Long-chain-fatty-acid--CoA ligase 5; Acyl-CoA synthetases (ACSL) activate long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small intestine may sensiti [...] 9606.ENSP00000348442 PSMD12 456 26S proteasome non-ATPase regulatory subunit 12; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair; Belongs to the proteasome subunit p55 family 9606.ENSP00000348453 ANO2 999 Anoctamin-2; Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina; Anoctamins 9606.ENSP00000348455 UVRAG 699 UV radiation resistance-associated gene protein; Versatile protein that is involved in regulation of different cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3-phosphate (PtdIns(3)P). During autophagy acts as regulatory subunit of the alternative PI3K complex II (PI3KC3-C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in maturat [...] 9606.ENSP00000348459 ACMSD 336 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase; Converts alpha-amino-beta-carboxymuconate-epsilon- semialdehyde (ACMS) to alpha-aminomuconate semialdehyde (AMS). ACMS can be converted non-enzymatically to quinolate (QA), a key precursor of NAD, and a potent endogenous excitotoxin of neuronal cells which is implicated in the pathogenesis of various neurodegenerative disorders. In the presence of ACMSD, ACMS is converted to AMS, a benign catabolite. ACMSD ultimately controls the metabolic fate of tryptophan catabolism along the kynurenine pathway; Belongs to the metallo-dependent [...] 9606.ENSP00000348460 NPAS3 933 Neuronal PAS domain-containing protein 3; May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000348461 RAC1 211 Ras-related C3 botulinum toxin substrate 1; Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarization and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated [...] 9606.ENSP00000348471 SH3YL1 342 SH3 domain-containing YSC84-like protein 1; SH3 and SYLF domain containing 1 9606.ENSP00000348472 PXK 578 PX domain-containing protein kinase-like protein; Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity 9606.ENSP00000348489 FBRS 980 Probable fibrosin-1; Fibrosin 9606.ENSP00000348496 SUN5 379 SUN domain-containing protein 5; May be involved in meiotic stage of spermatogenesis 9606.ENSP00000348510 GTF3C1 2109 General transcription factor 3C polypeptide 1; Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B promoter element; General transcription factors 9606.ENSP00000348521 GJB6 261 Gap junction beta-6 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Beta-type (group I) subfamily 9606.ENSP00000348527 CENPL 390 Centromere protein L; Constitutive centromere associated network 9606.ENSP00000348538 RBM38 239 RNA-binding protein 38; RNA-binding protein that specifically bind the 3'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest. Isoform 1, but not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53. Also acts as a mRNA splicing factor. Specifically regulates the expression of FGFR2- I [...] 9606.ENSP00000348564 CDAN1 1227 Codanin-1; May act as a negative regulator of ASF1 in chromatin assembly 9606.ENSP00000348565 UBA5 404 Ubiquitin-like modifier-activating enzyme 5; E1-like enzyme which activates UFM1 and SUMO2; Ubiquitin like modifier activating enzymes 9606.ENSP00000348573 AKAP9 3907 A-kinase anchor protein 9; Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus. Recruited to the Golgi apparatus by GM130/GOLGA2 and is required for microtubule nucleation at the cis-side of the Golgi apparatus. Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase. Forms a complex with PDE4DIP: the complex recruits CAMSAP2 to the Golgi apparatus, leading to tether non-centrosomal minus-end microtubules to the Golg [...] 9606.ENSP00000348596 SDAD1 687 Protein SDA1 homolog; Required for 60S pre-ribosomal subunits export to the cytoplasm; Belongs to the SDA1 family 9606.ENSP00000348602 AMPH 695 Amphiphysin; May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton; N-BAR domain containing 9606.ENSP00000348632 RBCK1 510 RanBP-type and C3HC4-type zinc finger-containing protein 1; E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates. Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination. Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome. Component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF- kappa-B activation and regulation of inflamma [...] 9606.ENSP00000348635 AMICA1 394 Junctional adhesion molecule-like; Transmembrane protein of the plasma membrane of leukocytes that control their migration and activation through interaction with CXADR, a plasma membrane receptor found on adjacent epithelial and endothelial cells. The interaction between both receptors mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferat [...] 9606.ENSP00000348639 TMPRSS11F 438 Transmembrane protease serine 11F; Probable serine protease 9606.ENSP00000348645 PXDNL 1463 Peroxidasin-like protein; Isoform PMR1: Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs; I-set domain containing 9606.ENSP00000348673 ZNF770 691 Zinc finger protein 770; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000348708 UPF2 1272 Regulator of nonsense transcripts 2; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA 9606.ENSP00000348714 AREL1 823 Apoptosis-resistant E3 ubiquitin protein ligase 1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits apoptosis by ubiquitinating and targeting for degradation a number of proapoptotic proteins including DIABLO/SMAC, HTRA2 and SEPT4/ARTS which are released from the mitochondrion into the cytosol following apoptotic stimulation 9606.ENSP00000348722 PUS7 661 Pseudouridylate synthase 7 9606.ENSP00000348751 BTN3A2 334 Butyrophilin subfamily 3 member A2; Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000348752 ORAI2 254 Protein orai-2; Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)- selective current by synergy with the Ca(2+) sensor, STIM1; ORAI calcium release-activated calcium modulators 9606.ENSP00000348753 SPRED2 418 Sprouty-related, EVH1 domain-containing protein 2; Negatively regulates Ras signaling pathways and downstream activation of MAP kinases 9606.ENSP00000348757 CCDC151 595 Coiled-coil domain-containing protein 151; Ciliary protein involved in outer dynein arm assembly and required for motile cilia function 9606.ENSP00000348769 ARIH2 493 E3 ubiquitin-protein ligase ARIH2; E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin- conjugating enzyme E2 UBE2L3. Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-5-RING ubiquitin ligase complex (ECS complex, also named CRL5 complex) and initiating ubiquitination of ECS substrates: associates with ECS complex and specifically mediates addition of the first ubiquitin on ECS targets (By similarity). The initial ubiquitin is then elongated (By similarity). E3 ubiquitin-protein ligase activity is activate [...] 9606.ENSP00000348772 PITPNM1 1244 Membrane-associated phosphatidylinositol transfer protein 1; Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golg [...] 9606.ENSP00000348775 ACOX3 700 Peroxisomal acyl-coenzyme A oxidase 3; Oxidizes the CoA-esters of 2-methyl-branched fatty acids; Belongs to the acyl-CoA oxidase family 9606.ENSP00000348821 MYOM1 1685 Myomesin-1; Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent; Fibronectin type III domain containing 9606.ENSP00000348828 ARHGEF26 871 Rho guanine nucleotide exchange factor 26; Activates RhoG GTPase by promoting the exchange of GDP by GTP. Required for the formation of membrane ruffles during macropinocytosis. Required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB, which induces cytoskeleton rearrangements and promotes bacterial entry; Pleckstrin homology domain containing 9606.ENSP00000348838 UBE2C 179 Ubiquitin-conjugating enzyme E2 C; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-linked polyubiquitination. Acts as an essential factor of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated ubiquitin ligase that controls progression through mitosis. Acts by initiating 'Lys-11'-linked polyubiquitin chains on APC/C substrates, leading to the degradation of APC/C substrates by the proteasome and promoting mitotic exit; Ubiquitin conjugating enzymes E2 9606.ENSP00000348842 EML6 1958 Echinoderm microtubule-associated protein-like 6; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic; WD repeat domain containing 9606.ENSP00000348848 WDR45 361 WD repeat domain phosphoinositide-interacting protein 4; Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation; Belongs to the WD repeat SVP1 family 9606.ENSP00000348849 RPS26 115 Ribosomal protein S26; Belongs to the eukaryotic ribosomal protein eS26 family 9606.ENSP00000348886 STOML2 356 Stomatin-like protein 2, mitochondrial; Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. M [...] 9606.ENSP00000348888 PIGR 764 Polymeric immunoglobulin receptor; This receptor binds polymeric IgA and IgM at the basolateral surface of epithelial cells. The complex is then transported across the cell to be secreted at the apical surface. During this process a cleavage occurs that separates the extracellular (known as the secretory component) from the transmembrane segment; V-set domain containing 9606.ENSP00000348911 AADACL2 401 Arylacetamide deacetylase-like 2; Arylacetamide deacetylase family; Belongs to the 'GDXG' lipolytic enzyme family 9606.ENSP00000348912 ADAM33 813 Disintegrin and metalloproteinase domain-containing protein 33; ADAM metallopeptidase domain containing 9606.ENSP00000348924 HIST1H2BF 126 Histone cluster 1 H2B family member f; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000348933 CCDC25 208 Coiled-coil domain containing 25; Belongs to the CCDC25 family 9606.ENSP00000348944 RSPO1 263 R-spondin-1; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May nega [...] 9606.ENSP00000348959 MAN1A2 641 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB; Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2) 9606.ENSP00000348965 DYNC1H1 4646 Cytoplasmic dynein 1 heavy chain 1; Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression; Belongs to the dynein heavy chain family 9606.ENSP00000348968 WFDC11 87 Protein WFDC11; WAP four-disulfide core domain containing 9606.ENSP00000348982 MEGF6 1541 Multiple epidermal growth factor-like domains protein 6; Multiple EGF like domains 6 9606.ENSP00000348984 SON 2426 Protein SON; RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'- GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core pro [...] 9606.ENSP00000349003 PTGER3 418 Prostaglandin E2 receptor EP3 subtype; Receptor for prostaglandin E2 (PGE2); the EP3 receptor may be involved in inhibition of gastric acid secretion, modulation of neurotransmitter release in central and peripheral neurons, inhibition of sodium and water reabsorption in kidney tubulus and contraction in uterine smooth muscle. The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G-I proteins, and to an elevation of intracellular calcium. The various isoforms have identical ligand binding properties but can interact with different second messe [...] 9606.ENSP00000349016 PEX14 377 Peroxisomal membrane protein PEX14; Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin; Peroxins 9606.ENSP00000349022 ARC 396 Activity-regulated cytoskeleton-associated protein; Required for consolidation of synaptic plasticity as well as formation of long-term memory. Regulates endocytosis of AMPA receptors in response to synaptic activity. Required for homeostatic synaptic scaling of AMPA receptors (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the stress fiber dynamics and cell migration; Gag like LTR retrotransposon derived genes 9606.ENSP00000349041 NRARP 114 Notch-regulated ankyrin repeat-containing protein; Downstream effector of Notch signaling. Involved in the regulation of liver cancer cells self-renewal. Involved in angiogenesis acting downstream of Notch at branch points to regulate vascular density. Proposed to integrate endothelial Notch and Wnt signaling to control stalk cell proliferation and to stablilize new endothelial connections during angiogenesis. During somitogenesis involved in maintenance of proper somite segmentation and proper numbers of somites and vertebrae. Required for proper anterior-posterior somite patterning. [...] 9606.ENSP00000349076 ATN1 1190 Atrophin-1; Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Asn (polyQ) repeats 9606.ENSP00000349078 FDPS 419 Farnesyl pyrophosphate synthase; Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate 9606.ENSP00000349085 MAGEA1 309 Melanoma-associated antigen 1; May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes; MAGE family 9606.ENSP00000349087 TMEM259 620 Membralin; May have a role in the ERAD pathway required for clearance of misfolded proteins in the endoplasmic reticulum (ER). Promotes survival of motor neurons, probably by protecting against ER stress; Belongs to the membralin family 9606.ENSP00000349124 PPP4R2 417 Serine/threonine-protein phosphatase 4 regulatory subunit 2; Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylat [...] 9606.ENSP00000349131 RSPO3 272 R-spondin-3; Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta- catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts [...] 9606.ENSP00000349142 ATP5C1 298 ATP synthase subunit gamma, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the [...] 9606.ENSP00000349143 BTN2A2 523 Butyrophilin subfamily 2 member A2; Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000349147 CNNM1 951 Metal transporter CNNM1; Probable metal transporter; Belongs to the ACDP family 9606.ENSP00000349156 SIAH1 313 E3 ubiquitin-protein ligase SIAH1; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription [...] 9606.ENSP00000349161 ZNF790 636 Zinc finger protein 790; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000349168 HNRNPH1 449 Heterogeneous nuclear ribonucleoprotein H; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG); RNA binding motif containing 9606.ENSP00000349181 HVCN1 273 Voltage-gated hydrogen channel 1; Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis 9606.ENSP00000349204 CRB3 123 Protein crumbs homolog 3; Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions; Crumbs complex 9606.ENSP00000349205 PIK3R4 1358 Phosphoinositide 3-kinase regulatory subunit 4; Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2; Armadillo-like helical domain containing 9606.ENSP00000349208 PIWIL2 973 Piwi-like protein 2; Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent re [...] 9606.ENSP00000349238 CCDC88B 1476 Coiled-coil domain-containing protein 88B; Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferation, and cytokine production in response to specific or non-specific stimulation (By similarity). Enhances NK cell cytotoxicity by positively regulating polarization of microtubule-organizing center (MTOC) to cytotoxic synapse, lytic granule transport along microtubules, and dynein-mediated clustering t [...] 9606.ENSP00000349244 EDRF1 1238 Erythroid differentiation-related factor 1; Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene 9606.ENSP00000349252 ITGAL 1170 Integrin alpha-L; Integrin alpha-L/beta-2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin alpha-L/beta-2 is also a receptor for F11R. Involved in a variety of immune phenomena including leukocyte-endothelial cell interaction, cytotoxic T-cell mediated killing, and antibody dependent killing by granulocytes and monocytes. Contributes to natural killer cell cytotoxicity. Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils. Required for generation of common lymphoid progenitor cells in bone marrow, indicating a role in lymphopoiesis [...] 9606.ENSP00000349259 SPTBN1 2364 Spectrin beta chain, non-erythrocytic 1; Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane; Pleckstrin homology domain containing 9606.ENSP00000349270 HBM 141 Hemoglobin subunit mu; Belongs to the globin family 9606.ENSP00000349274 PPP1R26 1209 Protein phosphatase 1 regulatory subunit 26; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. May positively regulate cell proliferation 9606.ENSP00000349291 TBC1D9B 1250 TBC1 domain family member 9B; May act as a GTPase-activating protein for Rab family protein(s); EF-hand domain containing 9606.ENSP00000349296 TMEM71 276 Transmembrane protein 71; Belongs to the TMEM71 family 9606.ENSP00000349298 MYLIP 445 E3 ubiquitin-protein ligase MYLIP; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol- dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR [...] 9606.ENSP00000349305 GOLGA4 2243 Golgin subfamily A member 4; May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1 9606.ENSP00000349313 NHEJ1 299 Non-homologous end-joining factor 1; DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary. Binds DNA in a length-dependent manne [...] 9606.ENSP00000349320 CACNA2D1 1091 Voltage-dependent calcium channel subunit alpha-2/delta-1; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity) 9606.ENSP00000349324 TNFRSF10C 259 Tumor necrosis factor receptor superfamily member 10C; Receptor for the cytotoxic ligand TRAIL. Lacks a cytoplasmic death domain and hence is not capable of inducing apoptosis. May protect cells against TRAIL mediated apoptosis by competing with TRAIL-R1 and R2 for binding to the ligand; CD molecules 9606.ENSP00000349325 ATP10A 1499 Probable phospholipid-transporting ATPase VA; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable) 9606.ENSP00000349336 FAM163B 166 Protein FAM163B; Family with sequence similarity 163 member B 9606.ENSP00000349351 BICD2 855 Protein bicaudal D homolog 2; Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non- processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (By similarity). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum [...] 9606.ENSP00000349358 C12orf29 325 Uncharacterized protein C12orf29; Chromosome 12 open reading frame 29 9606.ENSP00000349359 SASH3 380 SAM and SH3 domain-containing protein 3; May function as a signaling adapter protein in lymphocytes; SAM and SH3 domain containing 9606.ENSP00000349365 IL27 243 Interleukin-27 subunit alpha; Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T- helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal e [...] 9606.ENSP00000349396 ABCD4 606 ATP-binding cassette sub-family D member 4; May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm; ATP binding cassette subfamily D 9606.ENSP00000349401 ZNF708 563 Zinc finger protein 708; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000349428 PTBP1 557 Polypyrimidine tract-binding protein 1; Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10. In case of infection by picornav [...] 9606.ENSP00000349430 HIST1H2BK 126 Histone H2B type 1-K; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000349436 ADAM15 863 Disintegrin and metalloproteinase domain-containing protein 15; Active metalloproteinase with gelatinolytic and collagenolytic activity. Plays a role in the wound healing process. Mediates both heterotypic intraepithelial cell/T-cell interactions and homotypic T-cell aggregation. Inhibits beta-1 integrin-mediated cell adhesion and migration of airway smooth muscle cells. Suppresses cell motility on or towards fibronectin possibly by driving alpha-v/beta-1 integrin (ITAGV-ITGB1) cell surface expression via ERK1/2 inactivation. Cleaves E-cadherin in response to growth factor deprivation. [...] 9606.ENSP00000349437 IGF2R 2491 Cation-independent mannose-6-phosphate receptor; Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4; CD molecules 9606.ENSP00000349446 ARG1 330 Arginase-1; Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys 9606.ENSP00000349456 CLCC1 551 Chloride channel CLIC-like protein 1; Seems to act as a chloride ion channel; Tetraspan junctional complex superfamily 9606.ENSP00000349458 ICK 632 Serine/threonine-protein kinase ICK; Required for ciliogenesis. Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length. Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (B [...] 9606.ENSP00000349459 SPINK14 97 Serine protease inhibitor Kazal-type 14; May be a serine protease inhibitor; Serine peptidase inhibitors, Kazal type 9606.ENSP00000349467 CALM1 149 Calmodulin-1; Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Mediates calcium-dependent inactivation of CACNA1C. Positively regulates calcium-activated potassium channel activity of KCNN2 9606.ENSP00000349477 KLRG1 189 Killer cell lectin-like receptor subfamily G member 1; Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells; C-type lectin domain containing 9606.ENSP00000349486 SCRIB 1655 Protein scribble homolog; Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicle [...] 9606.ENSP00000349490 MFNG 321 Beta-1,3-N-acetylglucosaminyltransferase manic fringe; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity); Beta 3-glycosyltransferases 9606.ENSP00000349493 GUCA2A 115 Guanylin; Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins; Belongs to the guanylin family 9606.ENSP00000349494 ZNF254 659 Zinc finger protein 254; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000349503 ZBTB14 449 Zinc finger and BTB domain-containing protein 14; Transcriptional activator of the dopamine transporter (DAT), binding it's promoter at the consensus sequence 5'- CCTGCACAGTTCACGGA-3'. Binds to 5'-d(GCC)(n)-3' trinucleotide repeats in promoter regions and acts as a repressor of the FMR1 gene. Transcriptional repressor of MYC and thymidine kinase promoters; BTB domain containing 9606.ENSP00000349508 CHD4 1912 Chromodomain-helicase-DNA-binding protein 4; Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones; Belongs to the SNF2/RAD54 helicase family 9606.ENSP00000349541 PTRF 390 Caveolae-associated protein 1; Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues. Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releas [...] 9606.ENSP00000349543 PEX2 305 Peroxisome biogenesis factor 2; Somewhat implicated in the biogenesis of peroxisomes; Belongs to the pex2/pex10/pex12 family 9606.ENSP00000349547 RASSF1 344 Ras association domain-containing protein 1; Potential tumor suppressor. Required for death receptor- dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating [...] 9606.ENSP00000349560 RAB4B 213 Ras-related protein Rab-4B; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000349568 CFAP43 1665 Cilia and flagella associated protein 43; Belongs to the CFAP43 family 9606.ENSP00000349575 MOB3A 217 MOB kinase activator 3A; May regulate the activity of kinases; MOB kinase activators 9606.ENSP00000349576 DCTD 189 Deoxycytidylate deaminase; Supplies the nucleotide substrate for thymidylate synthetase 9606.ENSP00000349577 POX2 600 Proline dehydrogenase; Converts proline to delta-1-pyrroline-5-carboxylate; Belongs to the proline oxidase family 9606.ENSP00000349588 ANK2 3957 Ankyrin-2; In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptor [...] 9606.ENSP00000349594 ELAVL4 383 ELAV-like protein 4; May play a role in neuron-specific RNA processing. Protects CDKN1A mRNA from decay by binding to its 3'-UTR (By similarity). Binds to AU-rich sequences (AREs) of target mRNAs, including VEGF and FOS mRNA 9606.ENSP00000349595 ATP2A1 1001 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1; Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily 9606.ENSP00000349596 TRIM38 465 E3 ubiquitin-protein ligase TRIM38; E3 ubiquitin-protein ligase. Mediates 'Lys-48'-linked polyubiquitination and proteasomal degradation of the critical TLR adapter TICAM1, inhibiting TLR3-mediated type I interferon signaling; Ring finger proteins 9606.ENSP00000349612 ANKRD7 254 Ankyrin repeat domain-containing protein 7; Ankyrin repeat domain containing 9606.ENSP00000349616 ADIPOR2 386 Adiponectin receptor protein 2; Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism. Required for normal body fat and glucose homeostasis. ADIPOQ-binding activates a signaling cascade that leads to increased PPARA activity, and ultimately to increased fatty acid oxidation and glucose uptake. Has intermediate affinity for globular and full-length adiponectin. Required for normal revascularization after chronic ischemia caused by severing of blood vessels (By similarity); Belongs to the ADIPOR family 9606.ENSP00000349629 LRBA 2863 Lipopolysaccharide-responsive and beige-like anchor protein; May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules; Armadillo-like helical domain containing 9606.ENSP00000349640 MCRS1 475 Microspherule protein 1; Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. May also be an inhibitor of TERT telomerase activity. Binds to G-quadruplex structures in mRNA. Binds to RNA homopolymer poly(G) and poly(U) 9606.ENSP00000349658 XPNPEP3 507 X-prolyl aminopeptidase 3; Belongs to the peptidase M24B family 9606.ENSP00000349669 TEX43 134 Testis-expressed protein 43; Testis expressed 43 9606.ENSP00000349677 SPOCK3 436 Testican-3; May participate in diverse steps of neurogenesis. Inhibits the processing of pro-matrix metalloproteinase 2 (MMP-2) by MT1-MMP and MT3-MMP. May interfere with tumor invasion; SPARC family 9606.ENSP00000349678 MYBPHL 354 Myosin-binding protein H-like; Fibronectin type III domain containing; Belongs to the immunoglobulin superfamily. MyBP family 9606.ENSP00000349679 DYNLRB1 96 Dynein light chain roadblock-type 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules; Belongs to the GAMAD family 9606.ENSP00000349687 GM2A 193 Ganglioside GM2 activator; The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3 9606.ENSP00000349689 ZDHHC9 364 Palmitoyltransferase ZDHHC9; The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS 9606.ENSP00000349708 ZMYM6 1325 Zinc finger MYM-type protein 6; Plays a role in the regulation of cell morphology and cytoskeletal organization; Zinc fingers MYM-type 9606.ENSP00000349709 RAET1E 263 Retinoic acid early transcript 1E; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity 9606.ENSP00000349719 OR2L8 312 Olfactory receptor 2L8; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000349722 UBE2D3 149 Ubiquitin conjugating enzyme E2 D3; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000349723 BCL11B 894 B-cell lymphoma/leukemia 11B; Key regulator of both differentiation and survival of T- lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of hematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus. Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T- lymphocytes. Tumor-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC- rich response elemen [...] 9606.ENSP00000349727 DOK3 496 Docking protein 3; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK3 is a negative regulator of JNK signaling in B-cells through interaction with INPP5D/SHIP1. May modulate ABL1 function (By similarity) 9606.ENSP00000349732 C3orf18 162 Uncharacterized protein C3orf18; Chromosome 3 open reading frame 18 9606.ENSP00000349748 SFPQ 707 Splicing factor, proline- and glutamine-rich; DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphory [...] 9606.ENSP00000349770 IRF5 514 Interferon regulatory factor 5; Transcription factor involved in the induction of interferons IFNA and INFB and inflammatory cytokines upon virus infection. Activated by TLR7 or TLR8 signaling; Belongs to the IRF family 9606.ENSP00000349781 TBC1D8B 1120 TBC1 domain family member 8B; May act as a GTPase-activating protein for Rab family protein(s); EF-hand domain containing 9606.ENSP00000349785 MAP1LC3C 147 Microtubule-associated proteins 1A/1B light chain 3C; Ubiquitin-like modifier that plays a crucial role in antibacterial autophagy (xenophagy) through the selective binding of CALCOCO2. Recruits all ATG8 family members to infecting bacteria such as S.Typhimurium. May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated and aggregated proteins 9606.ENSP00000349790 COL9A1 921 Collagen alpha-1(IX) chain; Structural component of hyaline cartilage and vitreous of the eye; Collagen proteoglycans 9606.ENSP00000349805 FAM212B 297 PAK4-inhibitor INKA2; Inhibitor of the serine/threonine-protein kinase PAK4. Acts by binding PAK4 in a substrate-like manner, inhibiting the protein kinase activity; Belongs to the INKA family 9606.ENSP00000349823 SMARCAL1 954 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks 9606.ENSP00000349824 REPS2 660 RalBP1-associated Eps domain-containing protein 2; Involved in growth factor signaling through its influence on the Ral signaling pathway; EF-hand domain containing 9606.ENSP00000349856 PRRC2B 2229 Protein PRRC2B; Proline rich coiled-coil 2B 9606.ENSP00000349860 GFPT1 699 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1 9606.ENSP00000349874 NUDT13 352 Nucleoside diphosphate-linked moiety X motif 13; Nudix hydrolase family 9606.ENSP00000349877 ATP13A1 1204 Manganese-transporting ATPase 13A1; Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily 9606.ENSP00000349884 GALP 116 Galanin-like peptide; Isoform 1: Hypothalamic neuropeptide which binds to the G-protein-coupled galanin receptors (GALR1, GALR2 and GALR3). Involved in a large number of putative physiological functions in CNS homeostatic processes, including the regulation of gonadotropin-releasing hormone secretion; Endogenous ligands 9606.ENSP00000349891 ANKRD20A4 823 Ankyrin repeat domain-containing protein 20A4; Ankyrin repeat domain 20 family member A4 9606.ENSP00000349893 DLK2 383 Protein delta homolog 2; Regulates adipogenesis 9606.ENSP00000349923 LAGE3 143 EKC/KEOPS complex subunit LAGE3; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex (By similarity) 9606.ENSP00000349929 SDCCAG3 435 Serologically defined colon cancer antigen 3; May be involved in modulation of TNF response. May be involved in presentation of TNFRSF1A on the cell surface (By similarity). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1. Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1 9606.ENSP00000349930 OR11G2 345 Olfactory receptor 11G2; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000349931 PRAMEF8 474 PRAME family member 8; Belongs to the PRAME family 9606.ENSP00000349932 PTPRS 1948 Receptor-type tyrosine-protein phosphatase S; Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan. Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain developm [...] 9606.ENSP00000349945 OR5B17 314 Olfactory receptor 5B17; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000349954 CGB 165 Chorionic gonadotropin, beta polypeptide; Belongs to the glycoprotein hormones subunit beta family 9606.ENSP00000349957 ANAPC11 196 Anaphase promoting complex subunit 11 9606.ENSP00000349960 ACTB 375 Actin, cytoplasmic 1; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells 9606.ENSP00000349961 SMC4 1288 Structural maintenance of chromosomes protein 4; Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases 9606.ENSP00000349967 CCRL2 356 C-C chemokine receptor-like 2; Receptor for CCL19 and chemerin/RARRES2. Does not appear to be a signaling receptor, but may have a role in modulating chemokine-triggered immune responses by capturing and internalizing CCL19 or by presenting RARRES2 ligand to CMKLR1, a functional signaling receptors. Plays a critical role for the development of Th2 responses 9606.ENSP00000349968 ENSG00000274068 182 annotation not available 9606.ENSP00000349970 ERGIC3 388 Endoplasmic reticulum-Golgi intermediate compartment protein 3; Possible role in transport between endoplasmic reticulum and Golgi; Belongs to the ERGIC family 9606.ENSP00000349971 CEACAM3 252 Carcinoembryonic antigen-related cell adhesion molecule 3; Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis; CD molecules 9606.ENSP00000350005 GIP 153 Gastric inhibitory polypeptide; Potent stimulator of insulin secretion and relatively poor inhibitor of gastric acid secretion; Endogenous ligands 9606.ENSP00000350012 ACSL3 720 Long-chain-fatty-acid--CoA ligase 3; Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL3 mediates hepatic lipogenesis (By similarity). Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates (By similarity). Has mainly an anabolic role in energy metabolism. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins); Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000350018 SH3BP1 701 SH3 domain-binding protein 1; GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration. Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions. Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specific [...] 9606.ENSP00000350022 OR8D2 311 Olfactory receptor 8D2; Odorant receptor (Potential). May be involved in taste perception; Olfactory receptors, family 8 9606.ENSP00000350024 SLC29A2 456 Equilibrative nucleoside transporter 2; Mediates equilibrative transport of purine, pyrimidine nucleosides and the purine base hypoxanthine. Very less sensitive than SLC29A1 to inhibition by nitrobenzylthioinosine (NBMPR), dipyridamole, dilazep and draflazine; Belongs to the SLC29A/ENT transporter (TC 2.A.57) family 9606.ENSP00000350032 FRMD4A 1039 FERM domain-containing protein 4A; Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling; FERM domain containing 9606.ENSP00000350036 SMC1B 1235 Structural maintenance of chromosomes protein 1B; Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, t [...] 9606.ENSP00000350049 HOMEZ 550 Homeobox and leucine zipper protein Homez; May function as a transcriptional regulator; ZF class homeoboxes and pseudogenes 9606.ENSP00000350050 TMEM229B 167 Transmembrane protein 229B 9606.ENSP00000350052 POTEF 1075 POTE ankyrin domain family member F; In the C-terminal section; belongs to the actin family 9606.ENSP00000350071 STRN3 797 Striatin-3; Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein; Protein phosphatase 2 regulatory subunits 9606.ENSP00000350075 ARPIN 226 Arpin; Regulates actin polymerization by inhibiting the actin- nucleating activity of the Arp2/3 complex; the function is competetive with nucleation promoting factors. Participates in an incoherent feedforward loop at the lamellipodium tip where it inhibits the ARP2/2 complex in response to Rac signaling and where Rac also stimulates actin polymerization through the WAVE complex. Involved in steering cell migration by controlling its directional persistence; Belongs to the Arpin family 9606.ENSP00000350078 ARID5A 594 AT-rich interactive domain-containing protein 5A; Binds to AT-rich stretches in the modulator region upstream of the human cytomegalovirus major intermediate early gene enhancer. May act as repressor and down-regulate enhancer- dependent gene expressison. May positively regulate chondrocyte-specific transcription such as of COL2A1 in collaboration with SOX9 and positively regulate histone H3 acetylation at chondrocyte-specific genes. May stimulate early- stage chondrocyte differentiation and inhibit later stage differention (By similarity). Can repress ESR1-mediated transcriptional act [...] 9606.ENSP00000350085 ZNF43 818 Zinc finger protein 43; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000350090 HNRNPA1L2 320 Heterogeneous nuclear ribonucleoprotein A1-like 2; Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection; RNA binding motif containing 9606.ENSP00000350098 POP5 163 Ribonuclease P/MRP protein subunit POP5; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP 9606.ENSP00000350102 TOR4A 423 Torsin-4A; Torsin family 4 member A 9606.ENSP00000350132 PLN 52 Cardiac phospholamban; Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation; Belongs to the phospholamban family 9606.ENSP00000350136 RIMKLB 386 Beta-citrylglutamate synthase B; Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate 9606.ENSP00000350162 SYCP2 1530 Synaptonemal complex protein 2; Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order to be incorporated into the axial/lateral elements; Belongs [...] 9606.ENSP00000350170 FXR1 621 Fragile X mental retardation syndrome-related protein 1; RNA-binding protein required for embryonic and postnatal development of muscle tissue. May regulate intracellular transport and local translation of certain mRNAs (By similarity); Belongs to the FMR1 family 9606.ENSP00000350198 SSTR2 369 Somatostatin receptor type 2; Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and PLC via pertussis toxin insensitive as well as sensitive G proteins. Inhibits calcium entry by suppressing voltage-dependent calcium channels. Acts as the functionally dominant somatostatin receptor in pancreatic alpha- and beta-cells where it mediates the inhibitory effect of somatostatin-14 on hormone secretion. Inhibits cell growth through enhancement of MAPK1 [...] 9606.ENSP00000350199 AP1B1 949 AP-1 complex subunit beta-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules 9606.ENSP00000350222 OR51D1 324 Olfactory receptor 51D1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000350223 DNAJC14 702 DnaJ homolog subfamily C member 14; Regulates the export of target proteins, such as DRD1, from the endoplasmic reticulum to the cell surface; DNAJ heat shock proteins 9606.ENSP00000350224 BMX 675 Cytoplasmic tyrosine-protein kinase BMX; Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of in [...] 9606.ENSP00000350248 OR14A16 309 Olfactory receptor 14A16; Odorant receptor; Olfactory receptors, family 14 9606.ENSP00000350249 POT1 634 Protection of telomeres protein 1; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA- binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is [...] 9606.ENSP00000350256 CCR9 369 C-C chemokine receptor type 9; Receptor for chemokine SCYA25/TECK. Subsequently transduces a signal by increasing the intracellular calcium ions level; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000350260 FAM219B 198 Protein FAM219B; Family with sequence similarity 219 member B 9606.ENSP00000350263 PIGN 931 GPI ethanolamine phosphate transferase 1; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation; Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily 9606.ENSP00000350266 DENND2D 471 DENN domain-containing protein 2D; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form; DENN/MADD domain containing 9606.ENSP00000350267 BRPF3 1205 Bromodomain and PHD finger-containing protein 3; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity; Bromodomain containing 9606.ENSP00000350295 ZNF816 651 Zinc finger protein 816; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000350310 ATP2B4 1205 Plasma membrane calcium-transporting ATPase 4; Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily 9606.ENSP00000350314 BCO2 579 Beta,beta-carotene 9',10'-oxygenase; Asymmetrically cleaves beta-carotene at the 9',10' double bond resulting in the formation of beta-apo-10'-carotenal and beta-ionone. Besides beta-carotene, lycopene is also oxidatively cleaved. The apocarotenals formed by this enzyme may be the precursors for the biosynthesis of retinoic acid or exert unknown physiological effects; Belongs to the carotenoid oxygenase family 9606.ENSP00000350331 ASB13 278 Ankyrin repeat and SOCS box protein 13; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Ankyrin repeat domain containing 9606.ENSP00000350332 MYBPC2 1141 Myosin-binding protein C, fast-type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role; Fibronectin type III domain containing 9606.ENSP00000350333 SAP130 1083 Histone deacetylase complex subunit SAP130; Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes 9606.ENSP00000350336 DSCR8 97 Down syndrome critical region 8 9606.ENSP00000350348 GRM7 915 Metabotropic glutamate receptor 7; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity; Glutamate metabotropic receptors 9606.ENSP00000350353 METTL20 262 Electron transfer flavoprotein beta subunit lysine methyltransferase; Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria. Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain 9606.ENSP00000350358 PRAMEF12 483 PRAME family member 12; Belongs to the PRAME family 9606.ENSP00000350359 CREB5 508 Cyclic AMP-responsive element-binding protein 5; Binds to the cAMP response element and activates transcription; Basic leucine zipper proteins 9606.ENSP00000350364 NEGR1 354 Neuronal growth regulator 1; May be involved in cell-adhesion. May function as a trans-neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity); Belongs to the immunoglobulin superfamily. IgLON family 9606.ENSP00000350369 MAFG 162 Transcription factor MafG; Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor. Transcription factor, component of erythroid-specific transcription factor NF- E2. Activates globin gene expression when associated with [...] 9606.ENSP00000350377 MCTP2 878 Multiple C2 and transmembrane domain-containing protein 2; Might play a role in the development of cardiac outflow tract; Multiple C2 and transmembrane domain containing 9606.ENSP00000350378 GOLGA7 137 Golgin subfamily A member 7; May be involved in protein transport from Golgi to cell surface. The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS 9606.ENSP00000350386 CHM 653 Rab proteins geranylgeranyltransferase component A 1; Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative [...] 9606.ENSP00000350392 C17orf102 167 Uncharacterized protein C17orf102; Chromosome 17 open reading frame 102 9606.ENSP00000350402 HHLA2 414 HERV-H LTR-associating protein 2; Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade; C1-set domain containing 9606.ENSP00000350409 UNC50 259 Protein unc-50 homolog; May be involved in cell surface expression of neuronal nicotinic receptors. Binds RNA (By similarity) 9606.ENSP00000350418 ZNF98 572 Zinc finger protein 98; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000350425 APOA4 396 Apolipoprotein A-IV; May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons; Belongs to the apolipoprotein A1/A4/E family 9606.ENSP00000350447 SGOL2 1265 Shugoshin 2; Cooperates with PPP2CA to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Has a crucial role in protecting REC8 at centromeres from cleavage by separase. During meiosis, protects centromeric cohesion complexes until metaphase II/anaphase II transition, preventing premature release of meiosis-specific REC8 cohesin complexes from anaphase I centromeres. Is thus essential for an accurate gametogenesis. May act by targeting PPP2CA to centromeres, thus leading to cohesin dephosphorylation (By similarity). Essential for recru [...] 9606.ENSP00000350467 NAT9 207 GCN5 related N-acetyltransferases; Belongs to the acetyltransferase family. GNAT subfamily 9606.ENSP00000350474 OR8D1 308 Olfactory receptor 8D1; Odorant receptor (Potential). May be involved in taste perception; Olfactory receptors, family 8 9606.ENSP00000350491 PRIM1 420 DNA primase small subunit; DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication; Belongs to the eukaryotic-type primase small subunit family 9606.ENSP00000350509 AIG1 238 Androgen-induced gene 1 protein; May play a role in androgen-regulated growth of hair follicles; Belongs to the AIG1 family 9606.ENSP00000350512 COPS5 334 COP9 signalosome complex subunit 5; Probable protease subunit of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of the SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with CK2 and PKD [...] 9606.ENSP00000350541 AQPEP 990 Aminopeptidase Q; Metalloprotease which may be important for placentation by regulating biological activity of key peptides at the embryo- maternal interface. On synthetic substrates it shows a marked preference for Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met- MCA, Arg-LCA and Lys-LCA. Cleaves the N-terminal amino acid of several peptides such as angiotensin-3, kisspeptin-10 and endokinin C 9606.ENSP00000350547 SEMA4F 770 Semaphorin-4F; Has growth cone collapse activity against retinal ganglion-cell axons; Semaphorins 9606.ENSP00000350549 HMX3 357 Homeobox protein HMX3; Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development. Binds to the 5'-CAAGTG-3' core sequence. Controls semicircular canal formation in the inner ear. Also required for hypothalamic/pituitary axis of the CNS (By similarity); NKL subclass homeoboxes and pseudogenes 9606.ENSP00000350552 RFX4 744 Transcription factor RFX4; May activate transcription by interacting directly with the X-box; Belongs to the RFX family 9606.ENSP00000350576 ZNF441 693 Zinc finger protein 441; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000350630 TLL2 1015 Tolloid-like protein 2; Protease which specifically processes pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis; Astacins 9606.ENSP00000350633 SERTAD1 236 SERTA domain-containing protein 1; Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. Stimulates E2F1/TFDP1 transcriptional activity. Renders the activity of cyclin D1/CDK4 resistant to the inhibitory effects of CDKN2A/p16INK4A 9606.ENSP00000350651 ERI2 691 ERI1 exoribonuclease family member 2; Belongs to the ERI2 family 9606.ENSP00000350673 FAM3B 235 Protein FAM3B; Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner; Belongs to the FAM3 family 9606.ENSP00000350676 PHF8 1060 Histone lysine demethylase PHF8; Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator [...] 9606.ENSP00000350681 ELK4 431 ETS domain-containing protein Elk-4; Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilization of SIRT7 at promoters, followed by deacetylation of histone H3 at 'Lys-18' (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF). Requires DNA-bound SRF for ternary complex formation and makes extensive DNA contacts to the 5'side of SRF, but does not bind DNA autonomously 9606.ENSP00000350686 ANKLE2 938 Ankyrin repeat and LEM domain-containing protein 2; Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development; Belongs to the ANKLE2 family 9606.ENSP00000350698 DDX47 455 Probable ATP-dependent RNA helicase DDX47; Involved in apoptosis. May have a role in rRNA processing and mRNA splicing. Associates with pre-rRNA precursors; Belongs to the DEAD box helicase family. DDX47/RRP3 subfamily 9606.ENSP00000350704 C1orf109 203 Uncharacterized protein C1orf109; May promote cancer cell proliferation by controlling the G1 to S phase transition 9606.ENSP00000350708 RAD23B 409 UV excision repair protein RAD23 homolog B; Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome. May play a role in endoplasmic reticulum- associated degradation (ERAD) of misfolded glycoproteins by association with PNGase and delivering deglycosylated proteins to the proteasome; Belongs to the RAD23 family 9606.ENSP00000350716 TUSC1 212 Tumor suppressor candidate 1 9606.ENSP00000350718 TMCC2 709 Transmembrane and coiled-coil domains protein 2; May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE; Transmembrane and coiled-coil domain containing 9606.ENSP00000350719 SYNE2 6907 Nesprin-2; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane acti [...] 9606.ENSP00000350734 ST7L 575 Suppression of tumorigenicity 7 like; Belongs to the ST7 family 9606.ENSP00000350757 GMFB 142 Glia maturation factor beta; This protein causes differentiation of brain cells, stimulation of neural regeneration, and inhibition of proliferation of tumor cells 9606.ENSP00000350815 NR3C2 984 Mineralocorticoid receptor; Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels; Nuclear hormone receptors 9606.ENSP00000350833 MPPED2 294 Metallophosphoesterase MPPED2; Displays low metallophosphoesterase activity (in vitro). May play a role in the development of the nervous system (By similarity); Belongs to the UPF0046 family 9606.ENSP00000350844 PAX5 391 Paired box protein Pax-5; May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene; PRD class homeoboxes and pseudogenes 9606.ENSP00000350848 HMGN5 282 High mobility group nucleosome-binding domain-containing protein 5; Preferentially binds to euchromatin and modulates cellular transcription by counteracting linker histone-mediated chromatin compaction; Belongs to the HMGN family 9606.ENSP00000350856 C8orf86 223 Uncharacterized protein C8orf86; Chromosome 8 open reading frame 86 9606.ENSP00000350869 ZNF346 294 Zinc finger protein 346; Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity. May bind to specific miRNA hairpins 9606.ENSP00000350874 METTL9 318 Methyltransferase-like protein 9; Methyltransferase like 9 9606.ENSP00000350881 GRAMD1C 662 GRAM domain containing 1C 9606.ENSP00000350896 EPHB4 987 Ephrin type-B receptor 4; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4- mediated [...] 9606.ENSP00000350911 CTSE 396 Cathepsin E; May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain; Cathepsins 9606.ENSP00000350928 GAD1 594 Glutamate decarboxylase 1; Catalyzes the production of GABA; Belongs to the group II decarboxylase family 9606.ENSP00000350934 RABEP2 569 Rab GTPase-binding effector protein 2; Plays a role in membrane trafficking and in homotypic early endosome fusion; Belongs to the rabaptin family 9606.ENSP00000350937 TES 421 Testin; Scaffold protein that may play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Plays a role in the regulation of cell proliferation. May act as a tumor suppressor. Inhibits tumor cell growth; LIM domain containing 9606.ENSP00000350949 GMPPA 420 Mannose-1-phosphate guanyltransferase alpha; May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose 9606.ENSP00000350954 WDR37 494 WD repeat-containing protein 37; WD repeat domain containing 9606.ENSP00000350961 TMEM261 112 Distal membrane-arm assembly complex protein 1; Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I 9606.ENSP00000350976 RTP2 225 Receptor-transporting protein 2; Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs; Receptor transporter proteins 9606.ENSP00000351008 LCA5L 670 Lebercilin-like protein; LCA5L, lebercilin like 9606.ENSP00000351015 NF1 2839 Neurofibromin; Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity; Armadillo-like helical domain containing 9606.ENSP00000351022 TPM1 284 Tropomyosin alpha-1 chain; Tropomyosin 1; Tropomyosins 9606.ENSP00000351035 HSD17B11 300 Estradiol 17-beta-dehydrogenase 11; Can convert androstan-3-alpha,17-beta-diol (3-alpha- diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor- associated antigen in cutaneous T-cell lymphoma; Belongs to the short-chain dehydrogenases/reductases (SDR) family. [...] 9606.ENSP00000351040 FAM217B 383 Protein FAM217B; Family with sequence similarity 217 member B; Belongs to the FAM217 family 9606.ENSP00000351042 ZNF100 542 Zinc finger protein 100; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000351052 ZC3HC1 502 Nuclear-interacting partner of ALK; Essential component of a SCF-type E3 ligase complex, SCF(NIPA), a complex that controls mitotic entry by mediating ubiquitination and subsequent degradation of cyclin B1 (CCNB1). Its cell-cycle-dependent phosphorylation regulates the assembly of the SCF(NIPA) complex, restricting CCNB1 ubiquitination activity to interphase. Its inactivation results in nuclear accumulation of CCNB1 in interphase and premature mitotic entry. May have an antiapoptotic role in NPM-ALK-mediated signaling events; Zinc fingers 9606.ENSP00000351059 CX3CR1 387 CX3C chemokine receptor 1; Receptor for the CX3C chemokine fractalkine (CX3CL1); binds to CX3CL1 and mediates both its adhesive and migratory functions. Acts as coreceptor with CD4 for HIV-1 virus envelope protein (in vitro). Isoform 2 and isoform 3 seem to be more potent HIV-1 coreceptors than isoform 1 9606.ENSP00000351075 SUSD2 822 Sushi domain-containing protein 2; May be a cytokine receptor for C10ORF99. May be a tumor suppressor; together with C10ORF99 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest. May play a role in breast tumorigenesis; Sushi domain containing 9606.ENSP00000351100 WDR55 383 WD repeat-containing protein 55; Nucleolar protein that acts as a modulator of rRNA synthesis. Plays a central role during organogenesis (By similarity); WD repeat domain containing 9606.ENSP00000351108 HNRNPAB 332 Heterogeneous nuclear ribonucleoprotein A/B; Binds single-stranded RNA. Has a high affinity for G- rich and U-rich regions of hnRNA. Also binds to APOB mRNA transcripts around the RNA editing site; RNA binding motif containing 9606.ENSP00000351113 FRYL 3013 Protein furry homolog-like; Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendritic branching (By similarity). May function as a transcriptional activator; Belongs to the furry protein family 9606.ENSP00000351118 CDHR5 845 Cadherin-related family member 5; Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation; Cadherin related 9606.ENSP00000351132 RHOT1 691 Mitochondrial Rho GTPase 1; Mitochondrial GTPase involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution; EF-hand domain containing 9606.ENSP00000351137 XAB2 855 Pre-mRNA-splicing factor SYF1; Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing; Belongs to the crooked-neck family 9606.ENSP00000351138 FAM73B 593 Mitoguardin 2; Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD; Belongs to the mitoguardin family 9606.ENSP00000351141 WTAP 396 Pre-mRNA-splicing regulator WTAP; Regulatory subunit of the WMM N6-methyltransferase complex, a multiprotein complex that mediates N6-methyladenosine (m6A) methylation of some adenosine residues of some mRNAs and plays a role in the efficiency of mRNA splicing, processing and mRNA stability. Required for accumulation of METTL3 and METTL14 to nuclear speckle. Acts as a mRNA splicing regulator. Regulates G2/M cell-cycle transition by binding to the 3' UTR of CCNA2, which enhances its stability. Impairs WT1 DNA-binding ability and inhibits expression of WT1 target genes 9606.ENSP00000351147 DCAF4 495 DDB1- and CUL4-associated factor 4; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000351155 ATL1 558 Atlastin-1; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development; Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily 9606.ENSP00000351157 TXNDC15 360 Thioredoxin domain containing 15 9606.ENSP00000351159 CNOT3 753 CCR4-NOT transcription complex subunit 3; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic [...] 9606.ENSP00000351185 DNA2 1060 DNA replication ATP-dependent helicase/nuclease DNA2; Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double- strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleava [...] 9606.ENSP00000351190 ITIH2 946 Inter-alpha-trypsin inhibitor heavy chain H2; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes; Belongs to the ITIH family 9606.ENSP00000351206 TXLNB 684 Beta-taxilin; Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic; Belongs to the taxilin family 9606.ENSP00000351207 KIAA1671 1806 Uncharacterized protein KIAA1671; KIAA1671 9606.ENSP00000351209 EPHA2 976 Ephrin type-A receptor 2; Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1 [...] 9606.ENSP00000351211 OR6C6 314 Olfactory receptor 6C6; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000351214 TOMM7 55 Mitochondrial import receptor subunit TOM7 homolog; Required for assembly and stability of the TOM complex. Positive regulator of PRKN translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria; Belongs to the Tom7 family 9606.ENSP00000351218 ENSG00000228049 158 DNA-directed RNA polymerase II subunit RPB11-b1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity) 9606.ENSP00000351244 VN1R2 395 Vomeronasal type-1 receptor 2; Putative pheromone receptor; Vomeronasal receptors 9606.ENSP00000351250 TRIM33 1127 E3 ubiquitin-protein ligase TRIM33; Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signaling cascade. Plays a role in the control of cell proliferation. Its association with SMAD2 and SMAD3 stimulates erythroid differentiation of hematopoietic stem/progenitor (By similarity). Monoubiquitinates SMAD4 and acts [...] 9606.ENSP00000351273 CASP8 538 Caspase-8; Most upstream protease of the activation cascade of caspases responsible for the TNFRSF6/FAS mediated and TNFRSF1A induced cell death. Binding to the adapter molecule FADD recruits it to either receptor. The resulting aggregate called death- inducing signaling complex (DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Proteolytic fragments of the N-terminal propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC. Cleaves and activates CASP3, CASP4, CASP6, [...] 9606.ENSP00000351280 ZNF429 674 Zinc finger protein 429; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000351284 RAD52 418 DNA repair protein RAD52 homolog; Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase; Belongs to the RAD52 family 9606.ENSP00000351310 COL6A6 2263 Collagen alpha-6(VI) chain; Collagen VI acts as a cell-binding protein; Collagens 9606.ENSP00000351314 PSMB10 273 Proteasome subunit beta type-10; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides; Belongs to the peptidase T1B family 9606.ENSP00000351325 PATE2 113 Prostate and testis expressed 2; LY6/PLAUR domain containing 9606.ENSP00000351327 AKAP4 854 A-kinase anchor protein 4; Major structural component of sperm fibrous sheath. Plays a role in sperm motility; A-kinase anchoring proteins 9606.ENSP00000351333 ARHGAP19 494 Rho GTPase-activating protein 19; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state 9606.ENSP00000351338 PLXNB1 2135 Plexin-B1; Receptor for SEMA4D. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration; Belongs to the plexin family 9606.ENSP00000351342 PTPN5 565 Tyrosine-protein phosphatase non-receptor type 5; May regulate the activity of several effector molecules involved in synaptic plasticity and neuronal cell survival, including MAPKs, Src family kinases and NMDA receptors; Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily 9606.ENSP00000351345 FAM150A 129 ALK and LTK ligand 1; Ligand for receptor tyrosine kinase LTK and perhaps receptor tyrosine kinase ALK; activation of ALK is reported conflictingly 9606.ENSP00000351346 VPS13B 4022 Vacuolar protein sorting-associated protein 13B; May be involved in protein sorting in post Golgi membrane traffic; Belongs to the VPS13 family 9606.ENSP00000351379 PFN3 137 Profilin-3; Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis; Belongs to the profilin family 9606.ENSP00000351380 TMA16 203 Translation machinery associated 16 homolog 9606.ENSP00000351391 ZNF781 327 Zinc finger protein 781; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000351395 SCGB1D4 83 Secretoglobin family 1D member 4; Seems to be involved in the regulation of chemotactic cell migration and invasion; Belongs to the secretoglobin family. Lipophilin subfamily 9606.ENSP00000351407 ARNT 789 Aryl hydrocarbon receptor nuclear translocator; Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer with HIF1A or EPAS1/HIF2A functions as a transcriptional regulator of the adaptive response to hypoxia; Basic helix-loop-helix proteins 9606.ENSP00000351416 ANKRD17 2603 Ankyrin repeat domain-containing protein 17; Could play pivotal roles in cell cycle and DNA regulation. Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways. Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too. Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity); An [...] 9606.ENSP00000351422 C19orf60 201 Uncharacterized protein C19orf60; Chromosome 19 open reading frame 60 9606.ENSP00000351430 GYPE 78 Glycophorin-E; This protein is a minor sialoglycoprotein in human erythrocyte membranes; Belongs to the glycophorin-A family 9606.ENSP00000351446 WDR5 334 WD repeat-containing protein 5; Contributes to histone modification. May position the N- terminus of histone H3 for efficient trimethylation at 'Lys-4'. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. May regulate osteoblasts differentiation; Belongs to the WD repeat WDR5/wds family 9606.ENSP00000351466 OR5AC2 309 Olfactory receptor 5AC2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000351475 PASK 1330 PAS domain-containing serine/threonine-protein kinase; Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in [...] 9606.ENSP00000351484 NAALADL1 740 N-acetylated-alpha-linked acidic dipeptidase-like protein; NAALADase-like activity unknown. Has no NAAG hydrolyzing activity. Exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC (By similarity); Belongs to the peptidase M28 family. M28B subfamily 9606.ENSP00000351490 MAX 160 Protein max; Transcription regulator. Forms a sequence-specific DNA- binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements 9606.ENSP00000351492 UBL5 73 Ubiquitin-like protein 5; Ubiquitin like 5 9606.ENSP00000351497 FCGR2B 310 Low affinity immunoglobulin gamma Fc region receptor II-b; Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B- cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis [...] 9606.ENSP00000351520 ENTPD4 616 Ectonucleoside triphosphate diphosphohydrolase 4; Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent. The order of activity with different substrates is UDP >> GDP = CDP = TDP, AMP, ADP, ATP and UMP are not substrates. Preferred substrates for isoform 2 are CTP, UDP, CDP, GTP and GDP, while isoform 1 utilizes UTP and TTP; Belongs to the GDA1/CD39 NTPase family 9606.ENSP00000351524 HELZ 1942 Probable helicase with zinc finger domain; May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo; Belongs to the DNA2/NAM7 helicase family 9606.ENSP00000351530 ZXDA 799 Zinc finger X-linked protein ZXDA; Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes; Zinc fingers C2H2-type 9606.ENSP00000351536 QSOX2 698 Sulfhydryl oxidase 2; Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis 9606.ENSP00000351539 ZBTB18 531 Zinc finger and BTB domain-containing protein 18; Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'- [AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May [...] 9606.ENSP00000351569 SMIM7 103 Small integral membrane protein 7 9606.ENSP00000351575 BDP1 2624 Transcription factor TFIIIB component B'' homolog; General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site; Myb/SANT domain containing 9606.ENSP00000351589 HIST1H2AI 130 Histone cluster 1 H2A family member i; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000351591 NLGN3 848 Neuroligin-3; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity); Neuroligins 9606.ENSP00000351596 TTC37 1564 Tetratricopeptide repeat protein 37; Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C); Tetratricopeptide repeat domain containing 9606.ENSP00000351602 FUT4 530 Alpha-(1,3)-fucosyltransferase 4; May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens; CD molecules 9606.ENSP00000351605 FZD6 706 Frizzled-6; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to [...] 9606.ENSP00000351614 SYN3 580 Synapsin-3; May be involved in the regulation of neurotransmitter release and synaptogenesis; Synapsins 9606.ENSP00000351618 PARD3B 1143 Partitioning defective 3 homolog B; Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions; Belongs to the PAR3 family 9606.ENSP00000351619 PBLD 288 Phenazine biosynthesis like protein domain containing 9606.ENSP00000351631 FAM76B 339 Protein FAM76B; Family with sequence similarity 76 member B; Belongs to the FAM76 family 9606.ENSP00000351632 FAM3D 224 Protein FAM3D; Family with sequence similarity 3 member D; Belongs to the FAM3 family 9606.ENSP00000351642 BCAS4 211 Breast carcinoma amplified sequence 4 9606.ENSP00000351644 GTPBP3 524 tRNA modification GTPase GTPBP3, mitochondrial; GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs 9606.ENSP00000351646 STIP1 590 Stress-induced-phosphoprotein 1; Acts as a co-chaperone for HSP90AA1. Mediates the association of the molecular chaperones HSPA8/HSC70 and HSP90 (By similarity); Tetratricopeptide repeat domain containing 9606.ENSP00000351664 MICAL1 1067 [F-actin]-monooxygenase MICAL1; Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (By similarity). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. Involv [...] 9606.ENSP00000351669 MANEA 462 Glycoprotein endo-alpha-1,2-mannosidase; Mannosidases endo-alpha 9606.ENSP00000351671 CCL20 96 C-C motif chemokine 20; Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions. The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/memory T-cells and B- cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases. CCL20 acts as a chemotactic factor that attracts lymphocytes and, slig [...] 9606.ENSP00000351682 CNDP1 507 Carnosine dipeptidase 1; Belongs to the peptidase M20A family 9606.ENSP00000351686 PRDM10 1160 PR domain zinc finger protein 10; May be involved in transcriptional regulation; PR/SET domain family 9606.ENSP00000351697 REV3L 3130 DNA polymerase zeta catalytic subunit; Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function 9606.ENSP00000351706 GK2 553 Glycerol kinase 2; Key enzyme in the regulation of glycerol uptake and metabolism; Belongs to the FGGY kinase family 9606.ENSP00000351727 CCER1 406 Coiled-coil glutamate rich protein 1 9606.ENSP00000351732 TMC2 906 Transmembrane channel-like protein 2; Probable ion channel required for the normal function of cochlear hair cells. Component of the hair cell's mechanotransduction (MET) machinery. Involved in mechanosensitive responses of the hair cells (By similarity); Transmembrane channel likes 9606.ENSP00000351737 TMEM126B 230 Complex I assembly factor TMEM126B, mitochondrial; Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I 9606.ENSP00000351740 FAM114A1 563 Protein NOXP20; May play a role in neuronal cell development; Belongs to the FAM114 family 9606.ENSP00000351742 TFEB 490 Transcription factor EB; Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T- cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate the [...] 9606.ENSP00000351767 COL20A1 1284 Collagen alpha-1(XX) chain; Probable collagen protein; Collagens 9606.ENSP00000351770 FHAD1 1412 Forkhead-associated domain-containing protein 1; Forkhead associated phosphopeptide binding domain 1 9606.ENSP00000351777 VCP 806 Transitional endoplasmic reticulum ATPase; Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is neces [...] 9606.ENSP00000351789 PELI1 418 E3 ubiquitin-protein ligase pellino homolog 1; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation 9606.ENSP00000351790 MYPN 1320 Myopalladin; Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines; Belongs to the myotilin/palladin family 9606.ENSP00000351805 AVPR2 371 Vasopressin V2 receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption; Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily 9606.ENSP00000351807 ELN 786 Elastin; Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity) 9606.ENSP00000351811 EDC4 1401 Enhancer of mRNA-decapping protein 4; In the process of mRNA degradation, seems to play a role in mRNA decapping. Component of a complex containing DCP2 and DCP1A which functions in decapping of ARE-containing mRNAs. Promotes complex formation between DCP1A and DCP2. Enhances the catalytic activity of DCP2 (in vitro); WD repeat domain containing 9606.ENSP00000351813 MARCH5 278 E3 ubiquitin-protein ligase MARCH5; Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1; Membrane associated ring-CH-type fingers 9606.ENSP00000351832 RAB3GAP2 1393 Rab3 GTPase-activating protein non-catalytic subunit; Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3- GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non- synaptic vesicular release of neurotransmitters 9606.ENSP00000351856 POTEC 542 POTE ankyrin domain family member C 9606.ENSP00000351875 ANKRD30B 1392 Ankyrin repeat domain-containing protein 30B; Ankyrin repeat domain containing 9606.ENSP00000351884 SPANXC 97 Sperm protein associated with the nucleus on the X chromosome C; SPANX family member C; Belongs to the SPAN-X family 9606.ENSP00000351905 TGFBR2 592 TGF-beta receptor type-2; Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogen [...] 9606.ENSP00000351908 MAP3K5 1374 Mitogen-activated protein kinase kinase kinase 5; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signaling for determination of cell fate such as differentiation and survival. Plays a crucial role in the apoptosis signal transduction pathway through mitochondria-dependent caspase activation. MAP3K5/ASK1 is required for the innate immune response, which is essential for host defense against a wide range of pathogens. Me [...] 9606.ENSP00000351926 AP2A1 977 AP-2 complex subunit alpha-1; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold [...] 9606.ENSP00000351933 KLHL9 617 Kelch-like protein 9; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis; BTB domain containing 9606.ENSP00000351937 C17orf80 609 Uncharacterized protein C17orf80; Chromosome 17 open reading frame 80 9606.ENSP00000351947 SMARCAD1 1028 ATP-dependent helicase 1; DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restorati [...] 9606.ENSP00000351957 PDE3A 1141 cGMP-inhibited 3',5'-cyclic phosphodiesterase A; Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes; Phosphodiesterases 9606.ENSP00000351989 SFTA2 78 Surfactant-associated protein 2; Putative surfactant protein 9606.ENSP00000351990 NAE1 537 NEDD8-activating enzyme E1 regulatory subunit; Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation; Ubiquitin like modifier activating enzymes 9606.ENSP00000352011 CACNA1G 2377 Voltage-dependent T-type calcium channel subunit alpha-1G; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite neg [...] 9606.ENSP00000352021 NOL12 213 Nucleolar protein 12; May bind to 28S rRNA; Belongs to the RRP17 family 9606.ENSP00000352035 KCNQ2 872 Potassium voltage-gated channel subfamily KQT member 2; Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. As the native M-chan [...] 9606.ENSP00000352039 NLRC3 1065 NLR family CARD domain-containing protein 3; Negative regulator of the innate immune response. Attenuates signaling pathways activated by Toll-like receptors (TLRs) and the DNA sensor STING/TMEM173 in response to pathogen-associated molecular patterns, such as intracellular poly(dA:dT), but not poly(I:C), or in response to DNA virus infection, including that of Herpes simplex virus 1 (HSV1) (By similarity). May affect TLR4 signaling by acting at the level of TRAF6 ubiquitination, decreasing the activating 'Lys-63'- linked ubiquitination and leaving unchanged the degradative 'Lys- 48'-l [...] 9606.ENSP00000352069 WWP2 870 NEDD4-like E3 ubiquitin-protein ligase WWP2; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation- induced cell death. Ubiquitinates SLC11A2; the ubiqu [...] 9606.ENSP00000352071 CD163 1156 Scavenger receptor cysteine-rich type 1 protein M130; Acute phase-regulated receptor involved in clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages and may thereby protect tissues from free hemoglobin-mediated oxidative damage. May play a role in the uptake and recycling of iron, via endocytosis of hemoglobin/haptoglobin and subsequent breakdown of heme. Binds hemoglobin/haptoglobin complexes in a calcium-dependent and pH-dependent manner. Exhibits a higher affinity for complexes of hemoglobin and multimeric haptoglobin of HP*1F phenotype than for complexes of [...] 9606.ENSP00000352097 SPTSSB 76 Serine palmitoyltransferase small subunit B; Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference, complexes with this subunit showing a clear preference for longer acyl-CoAs. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. May play a role in signal transduction 9606.ENSP00000352111 GOLGA8A 603 Golgin subfamily A member 8A; May be involved in maintaining Golgi structure 9606.ENSP00000352119 HIST1H2AG 130 Histone cluster 1 H2A family member g; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000352121 PIK3CG 1102 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Links G-protein coupled receptor activation to PIP3 production. Involved in immune, inflammatory and allergic responses. Modulates [...] 9606.ENSP00000352138 KIRREL 757 Kin of IRRE-like protein 1; Plays a significant role in the normal development and function of the glomerular permeability. Signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity); Belongs to the immunoglobulin superfamily 9606.ENSP00000352157 MAPK10 464 Mitogen-activated protein kinase 10; Serine/threonine-protein kinase involved in various processes such as neuronal proliferation, differentiation, migration and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress- activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK10/JNK3. In turn, MAPK10/JNK3 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and AT [...] 9606.ENSP00000352162 ELAVL3 367 ELAV-like protein 3; Binds to AU-rich sequences (AREs) of target mRNAs, including VEGF mRNA. May also bind poly-A tracts via RRM 3 (By similarity). May be involved in neuronal differentiation and maintenance; Belongs to the RRM elav family 9606.ENSP00000352163 LYPD2 125 LY6/PLAUR domain containing 2 9606.ENSP00000352167 SLC25A29 303 Mitochondrial basic amino acids transporter; Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine. Can restore ornithine transport in cells lacking the primary mitochondrial ornithine transporter SLC25A15. Does not transport carnitine nor acylcarnitines. Functions by both counter- exchange and uniport mechanisms; Solute carriers 9606.ENSP00000352172 VSIG10 540 V-set and immunoglobulin domain containing 10 9606.ENSP00000352173 PLAC1 212 Placenta-specific protein 1; May play a role in placental development; Belongs to the PLAC1 family 9606.ENSP00000352182 FAM86C1 165 Protein FAM86C1; Family with sequence similarity 86 member C1 9606.ENSP00000352185 PHF2 1096 Lysine-specific demethylase PHF2; Lysine demethylase that demethylates both histones and non-histone proteins. Enzymatically inactive by itself, and becomes active following phosphorylation by PKA: forms a complex with ARID5B and mediates demethylation of methylated ARID5B. Demethylation of ARID5B leads to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. PHF2 is recruited to trimethyl [...] 9606.ENSP00000352208 MYOF 2061 Myoferlin; Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity); Ferlin family 9606.ENSP00000352216 SLC2A10 541 Solute carrier family 2, facilitated glucose transporter member 10; Facilitative glucose transporter; Solute carriers 9606.ENSP00000352233 ZNF705A 300 Zinc finger protein 705A; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000352248 ANXA10 324 Annexin A10; Annexins 9606.ENSP00000352252 HIST1H3J 136 Histone cluster 1 H3 family member j; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000352257 XRCC6 609 X-ray repair cross-complementing protein 6; Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic s [...] 9606.ENSP00000352264 CD2AP 639 CD2-associated protein; Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glom [...] 9606.ENSP00000352265 TPGS1 290 Tubulin polyglutamylase complex subunit 1; May act in the targeting of the tubulin polyglutamylase complex. Required for the development of the spermatid flagellum (By similarity) 9606.ENSP00000352268 AADACL3 350 Arylacetamide deacetylase-like 3; Arylacetamide deacetylase family 9606.ENSP00000352271 XRCC2 280 DNA repair protein XRCC2; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2- dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, singl [...] 9606.ENSP00000352272 MYOZ1 299 Myozenin-1; Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis 9606.ENSP00000352282 KLHDC1 406 Kelch domain containing 1 9606.ENSP00000352284 TMEM139 216 Transmembrane protein 139; May be involved in cellular trafficking of proteins such as SLC4A1 9606.ENSP00000352295 CGB2 163 Chorionic gonadotropin beta subunit 2 9606.ENSP00000352299 SLFNL1 407 Schlafen-like protein 1; Schlafen family 9606.ENSP00000352305 OR51A7 312 Olfactory receptor 51A7; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000352314 KLHL14 628 Kelch-like protein 14; Kelch like family member 14; BTB domain containing 9606.ENSP00000352358 TRPV6 725 Transient receptor potential cation channel subfamily V member 6; Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine. Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)- calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vi [...] 9606.ENSP00000352400 NUP214 2090 Nuclear pore complex protein Nup214; May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex; Nucleoporins 9606.ENSP00000352401 RPE 228 Ribulose-phosphate 3-epimerase; Catalyzes the reversible epimerization of D-ribulose 5- phosphate to D-xylulose 5-phosphate; Belongs to the ribulose-phosphate 3-epimerase family 9606.ENSP00000352408 BABAM1 329 BRISC and BRCA1-A complex member 1; Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cle [...] 9606.ENSP00000352413 TMC3 1100 Transmembrane channel-like protein 3; Probable ion channel; Transmembrane channel likes 9606.ENSP00000352414 FGF17 216 Fibroblast growth factor 17; Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development 9606.ENSP00000352420 LDLRAD4 306 Low-density lipoprotein receptor class A domain-containing protein 4; Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. [...] 9606.ENSP00000352424 TIAF1 115 TGFB1-induced anti-apoptotic factor 1; Inhibits the cytotoxic effects of TNF-alpha and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation 9606.ENSP00000352427 RGR 295 RPE-retinal G protein-coupled receptor; Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism; Opsin receptors 9606.ENSP00000352438 PCBP2 366 Poly(rC)-binding protein 2; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. Major cellular poly(rC)-binding protein. Binds also poly(rU). Negatively regulates cellular antiviral responses mediated by MAVS signaling. It acts as an adapter between MAVS and the E3 ubiquitin ligase ITCH, therefore triggering MAVS ubiquitination and degradation 9606.ENSP00000352444 ZNF33B 778 Zinc finger protein 33B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000352447 C1orf116 601 Specifically androgen-regulated gene protein; Putative androgen-specific receptor; Belongs to the SARG family 9606.ENSP00000352455 MFAP5 173 Microfibrillar-associated protein 5; May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils 9606.ENSP00000352458 PLGLB2 96 Plasminogen-like protein B; May bind noncovalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction 9606.ENSP00000352463 TCF20 1960 Transcription factor 20; Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator 9606.ENSP00000352510 TECPR2 1411 Tectonin beta-propeller repeat-containing protein 2; Probably plays a role as positive regulator of autophagy; Belongs to the WD repeat KIAA0329 family 9606.ENSP00000352513 MPZL1 269 Myelin protein zero-like protein 1; Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is involved in cellular signaling induced by ConA, which probably includes Src family tyrosine- protein kinases. Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA. Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility; V-set dom [...] 9606.ENSP00000352516 DNMT1 1632 DNA (cytosine-5)-methyltransferase 1; Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In a [...] 9606.ENSP00000352522 ATP6V1H 483 V-type proton ATPase subunit H; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes 9606.ENSP00000352527 KCNK5 499 Potassium channel subfamily K member 5; pH-dependent, voltage insensitive, outwardly rectifying potassium channel. Outward rectification is lost at high external K(+) concentrations; Potassium two pore domain channel subfamily K 9606.ENSP00000352536 GTF3C2 911 General transcription factor 3C polypeptide 2; Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. May play a direct role in stabilizing interactions of TFIIIC2 with TFIIIC1; General transcription factors 9606.ENSP00000352540 EMP2 167 Epithelial membrane protein 2; Functions as a key regulator of cell membrane composition by regulating proteins surface expression. Also, plays a role in regulation of processes including cell migration, cell proliferation, cell contraction and cell adhesion. Negatively regulates caveolae formation by reducing CAV1 expression and CAV1 amount by increasing lysosomal degradation. Facilitates surface trafficking and formation of lipid rafts bearing GPI-anchor proteins (By similarity). Regulates surface expression of MHC1 and ICAM1 proteins increasing susceptibility to T-cell mediated cyto [...] 9606.ENSP00000352544 CPLX2 134 Complexin-2; Negatively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Also involved in mast cell exocytosis (By similarity); Belongs to the complexin/synaphin family 9606.ENSP00000352561 CALCR 508 Calcitonin receptor; This is a receptor for calcitonin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The calcitonin receptor is thought to couple to the heterotrimeric guanosine triphosphate-binding protein that is sensitive to cholera toxin 9606.ENSP00000352565 HAND2 217 Heart- and neural crest derivatives-expressed protein 2; Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Plays also an important role in limb development, particularly in the establishment of anterior-posterior polarization, acting as an upstream regulator of sonic hedgehog (SHH) induction in the limb bud. Is involved in the development of branchial arches, which give rise to unique structures in the hea [...] 9606.ENSP00000352572 PCNT 3336 Pericentrin; Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome 9606.ENSP00000352584 AKR1B10 316 Aldo-keto reductase family 1 member B10; Acts as all-trans-retinaldehyde reductase. Can efficiently reduce aliphatic and aromatic aldehydes, and is less active on hexoses (in vitro). May be responsible for detoxification of reactive aldehydes in the digested food before the nutrients are passed on to other organs 9606.ENSP00000352601 LRP10 713 Low-density lipoprotein receptor-related protein 10; Probable receptor, which is involved in the internalization of lipophilic molecules and/or signal transduction. May be involved in the uptake of lipoprotein APOE in liver (By similarity); Low density lipoprotein receptors 9606.ENSP00000352603 AP4M1 453 AP-4 complex subunit mu-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asym [...] 9606.ENSP00000352604 OR2T3 318 Olfactory receptor 2T3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000352606 HAPLN3 360 Hyaluronan and proteoglycan link protein 3; May function in hyaluronic acid binding; V-set domain containing 9606.ENSP00000352608 RYR1 5038 Ryanodine receptor 1; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for nor [...] 9606.ENSP00000352614 ZSWIM5 1185 Zinc finger SWIM-type containing 5 9606.ENSP00000352626 OR6K2 324 Olfactory receptor 6K2; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000352627 HIST1H2AM 130 Histone cluster 1 H2A family member m; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000352639 CELA2A 269 Chymotrypsin-like elastase family member 2A; Acts upon elastin 9606.ENSP00000352642 LRRC61 259 Leucine-rich repeat-containing protein 61; Leucine rich repeat containing 61 9606.ENSP00000352645 TYW1 732 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase; Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N- methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity) 9606.ENSP00000352672 PGLYRP4 373 Peptidoglycan recognition protein 4; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram- negative bacteria, and has bacteriostatic activity towards Gram- negative bacteria. Plays a role in innate immunity; Peptidoglycan recognition proteins 9606.ENSP00000352673 ELF3 371 ETS-related transcription factor Elf-3; Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. Represses KRT4 promoter activity. Involved in mediating vascular inflammation. May play an important role in epithelial cell differentiation and tumorigenesis. May be a critical downstream effec [...] 9606.ENSP00000352676 ZRANB1 708 Ubiquitin thioesterase ZRANB1; Specifically hydrolyzes 'Lys-29'-linked and 'Lys-33'- linked diubiquitin. Also cleaves 'Lys-63'-linked chains, but with 40-fold less efficiency compared to 'Lys-29'-linked ones. Positive regulator of the Wnt signaling pathway that deubiquitinates APC protein, a negative regulator of Wnt-mediated transcription. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the stress fiber dynamics and cell migration. May also modulate TNF-alpha signaling; Belongs to the peptidase C64 family 9606.ENSP00000352678 SUPV3L1 786 ATP-dependent RNA helicase SUPV3L1, mitochondrial; Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. ATPase and ATP- dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation [...] 9606.ENSP00000352706 HIBCH 386 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA 9606.ENSP00000352710 OR2M2 347 Olfactory receptor 2M2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000352717 OR13G1 307 Olfactory receptor 13G1; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000352738 G3BP2 482 Ras GTPase-activating protein-binding protein 2; Probable scaffold protein that may be involved in mRNA transport; RNA binding motif containing 9606.ENSP00000352779 SLC39A14 492 Zinc transporter ZIP14; Broad-scope metal ion transporter with a preference for zinc uptake. Also mediates cellular uptake of nontransferrin-bound iron; Belongs to the ZIP transporter (TC 2.A.5) family 9606.ENSP00000352785 DSG4 1059 Desmoglein-4; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity); Desmosomal cadherins 9606.ENSP00000352821 ZDHHC14 488 Probable palmitoyltransferase ZDHHC14; Zinc finger DHHC-type containing 14; Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily 9606.ENSP00000352833 PTPN22 807 Tyrosine-protein phosphatase non-receptor type 22; Acts as negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue. Dephosphorylates ZAP70 at its activating 'Tyr- 493' residue. Dephosphorylates the immune system activator SKAP2. Positively regulates toll-like receptor (TLR)-induced type 1 interferon production. Promotes host [...] 9606.ENSP00000352834 MYO1C 1063 Unconventional myosin-Ic; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Involved in glucose transporter recycling in response to insulin by regulating movement of intracellular GLUT4-containing vesicles to the plasma membrane. Component of the hair cell's (the sensory cells of the inner ear) adaptation-motor complex. Acts as a mediator of adaptation of mechanoelectrical transduction in st [...] 9606.ENSP00000352836 ZNF675 568 Zinc finger protein 675; May be involved in transcriptional regulation. May play a role during osteoclast differentiation by modulating TRAF6 signaling activity; Zinc fingers C2H2-type 9606.ENSP00000352846 ZNF808 903 Zinc finger protein 808; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000352849 SIRPB2 342 Signal-regulatory protein beta-2; Signal regulatory protein beta 2 9606.ENSP00000352882 PLXNA4 1894 Plexin-A4; Coreceptor for SEMA3A. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm (By similarity) 9606.ENSP00000352900 RXRG 463 Retinoic acid receptor RXR-gamma; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid (By similarity); Nuclear hormone receptors 9606.ENSP00000352904 NT5C1B 610 Cytosolic 5'-nucleotidase 1B; Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity); 5'-nucleotidases 9606.ENSP00000352925 TRRAP 3859 Transformation/transcription domain-associated protein; Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC. Required for p53/TP53-, E2F1- and E2F4-mediated transcription activation. Also involved in transcription acti [...] 9606.ENSP00000352926 TEAD4 434 Transcriptional enhancer factor TEF-3; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] 9606.ENSP00000352927 MTCL1 1586 Microtubule cross-linking factor 1; Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation. Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral membrane in polarized epithelial cells; Belongs to the SOGA family 9606.ENSP00000352928 DDA1 102 DET1- and DDB1-associated protein 1; May be involved in ubiquitination and subsequent proteasomal degradation of target proteins. Component of the DDD- E2 complexes which may provide a platform for interaction with CUL4A and WD repeat proteins 9606.ENSP00000352936 SPINK5 1094 Serine protease inhibitor Kazal-type 5; Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense- activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin; Serine peptidase inhibitors, Kazal type 9606.ENSP00000352941 KCTD18 426 BTB/POZ domain-containing protein KCTD18; Potassium channel tetramerization domain containing 18 9606.ENSP00000352956 RBM23 439 Probable RNA-binding protein 23; Probable RNA-binding protein. May be involved in pre- mRNA splicing process; Belongs to the splicing factor SR family 9606.ENSP00000352962 LPPR3 746 Lipid phosphate phosphatase-related protein type 3 9606.ENSP00000352976 AMZ2 360 Archaemetzincin-2; Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either neurogranin or angiotensin-2; Belongs to the peptidase M54 family 9606.ENSP00000352995 ARHGEF18 1173 Rho guanine nucleotide exchange factor 18; Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also act as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumfe [...] 9606.ENSP00000353007 SULF2 870 Extracellular sulfatase Sulf-2; Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin; Sulfatases 9606.ENSP00000353010 ATG2B 2078 Autophagy-related protein 2 homolog B; Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion; Autophagy related 9606.ENSP00000353013 CLEC14A 490 C-type lectin domain containing 14A 9606.ENSP00000353025 FAM3C 227 Protein FAM3C; May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition 9606.ENSP00000353030 PTPRF 1907 Receptor-type tyrosine-protein phosphatase F; Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity; Fibronectin type III domain containing 9606.ENSP00000353032 P2RX4 404 P2X purinoceptor 4; Receptor for ATP that acts as a ligand-gated ion channel. This receptor is insensitive to the antagonists PPADS and suramin; Purinergic receptors P2X 9606.ENSP00000353044 OR2L3 312 Olfactory receptor 2L3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000353048 CCT8L2 557 T-complex protein 1 subunit theta-like 2; Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis; Belongs to the TCP-1 chaperonin family 9606.ENSP00000353058 ZNF517 492 Zinc finger protein 517; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000353072 ATP2A3 1052 Sarcoplasmic/endoplasmic reticulum calcium ATPase 3; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction; ATPases Ca2+ transporting 9606.ENSP00000353094 SDF4 362 45 kDa calcium-binding protein; May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment; Belongs to the CREC family 9606.ENSP00000353098 MCMBP 642 Mini-chromosome maintenance complex-binding protein; Associated component of the MCM complex that acts as a regulator of DNA replication. Binds to the MCM complex during late S phase and promotes the disassembly of the MCM complex from chromatin, thereby acting as a key regulator of pre-replication complex (pre-RC) unloading from replicated DNA. Can dissociate the MCM complex without addition of ATP; probably acts by destabilizing interactions of each individual subunits of the MCM complex. Required for sister chromatid cohesion 9606.ENSP00000353099 HLA-DRB1 266 HLA class II histocompatibility antigen, DRB1-15 beta chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for [...] 9606.ENSP00000353104 DHDDS 334 Dehydrodolichyl diphosphate synthase complex subunit DHDDS; With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Adds multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol 9606.ENSP00000353114 AHNAK2 5795 AHNAK nucleoprotein 2; PDZ domain containing 9606.ENSP00000353128 DCAF12L2 463 DDB1- and CUL4-associated factor 12-like protein 2; DDB1 and CUL4 associated factor 12 like 2; Belongs to the WD repeat DCAF12 family 9606.ENSP00000353129 KCTD8 473 BTB/POZ domain-containing protein KCTD8; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity) 9606.ENSP00000353132 DMBX1 377 Diencephalon/mesencephalon homeobox protein 1; Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain development (By similarity); PRD class homeoboxes and pseudogenes 9606.ENSP00000353142 GAL3ST4 486 Galactose-3-O-sulfotransferase 4; Catalyzes the transfer of sulfate to beta-1,3-linked galactose residues in O-linked glycoproteins. Good substrates include asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc; Sulfotransferases, membrane bound 9606.ENSP00000353151 HOXA4 320 Homeobox protein Hox-A4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to sites in the 5'-flanking sequence of its coding region with various affinities. The consensus sequences of the high and low affinity binding sites are 5'-TAATGA[CG]-3' and 5'-CTAATTTT- 3'; HOXL subclass homeoboxes 9606.ENSP00000353165 TPK1 243 Thiamin pyrophosphokinase 1; Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate 9606.ENSP00000353198 PYY 97 Peptide YY; This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility; Endogenous ligands 9606.ENSP00000353203 LCE1B 118 Late cornified envelope protein 1B; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000353210 ARL9 123 ADP-ribosylation factor-like protein 9; ADP ribosylation factor like GTPase 9; ARF GTPase family 9606.ENSP00000353224 TFRC 760 Transferrin receptor protein 1; Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for [...] 9606.ENSP00000353238 SPN 400 Leukosialin; One of the major glycoproteins of thymocytes and T lymphocytes. Plays a role in the physicochemical properties of the T-cell surface and in lectin binding. Presents carbohydrate ligands to selectins. Has an extended rodlike structure that could protrude above the glycocalyx of the cell and allow multiple glycan chains to be accessible for binding. Is a counter-receptor for SN/Siglec-1 (By similarity). During T-cell activation is actively removed from the T-cell-APC (antigen-presenting cell) contact site thus suggesting a negative regulatory role in adaptive immune response [...] 9606.ENSP00000353245 C17orf97 423 Protein LIAT1; May be involved in ATE1-mediated N-terminal arginylation 9606.ENSP00000353246 MAK16 300 Protein MAK16 homolog; RNA binding motif containing 9606.ENSP00000353249 AGBL5 886 Cytosolic carboxypeptidase-like protein 5; Metallocarboxypeptidase that mediates protein deglutamylation. Specifically catalyzes the deglutamylation of the branching point glutamate side chains generated by post- translational glutamylation in proteins such as tubulins. In contrast, it is not able to act as a long-chain deglutamylase that shortens long polyglutamate chains, a process catalyzed by AGTPBP1/CCP1, AGBL2/CCP2, AGBL3/CCP3, AGBL1/CCP4 and AGBL4/CCP6. Mediates deglutamylation of CGAS/MB21D1, regulating the antiviral activity of CGAS/MB21D1 9606.ENSP00000353259 CD300A 299 CMRF35-like molecule 8; Inhibitory receptor which may contribute to the down- regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation. Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6; Belongs to the CD300 family 9606.ENSP00000353270 ERGIC2 377 Endoplasmic reticulum-Golgi intermediate compartment protein 2; Possible role in transport between endoplasmic reticulum and Golgi; Belongs to the ERGIC family 9606.ENSP00000353292 SCNN1A 728 Amiloride-sensitive sodium channel subunit alpha; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception 9606.ENSP00000353295 CBWD3 395 COBW domain containing 3 9606.ENSP00000353331 KIRREL2 708 Kin of IRRE-like protein 2; Kirre like nephrin family adhesion molecule 2; C2-set domain containing 9606.ENSP00000353332 RTEL1 1300 Regulator of telomere elongation helicase 1; ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by [...] 9606.ENSP00000353343 OR52M1 317 Olfactory receptor 52M1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000353344 ETS2 469 Protein C-ets-2; Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription 9606.ENSP00000353346 LHFPL5 219 LHFPL tetraspan subfamily member 5 protein; In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity); Deafness associated genes 9606.ENSP00000353362 CACNA1A 2506 Voltage-dependent P/Q-type calcium channel subunit alpha-1A; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin- IVA (omega-Aga-IVA). Th [...] 9606.ENSP00000353375 MAP4 1152 Microtubule-associated protein 4; Non-neuronal microtubule-associated protein. Promotes microtubule assembly 9606.ENSP00000353377 CCDC102B 513 Coiled-coil domain containing 102B 9606.ENSP00000353379 MAGEA4 317 Melanoma-associated antigen 4; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression; MAGE family 9606.ENSP00000353393 F8 2351 Coagulation factor VIII; Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa; Belongs to the multicopper oxidase family 9606.ENSP00000353401 CUX1 1516 Homeobox protein cut-like 1; Probably has a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactiv [...] 9606.ENSP00000353408 MSN 577 Moesin; Probably involved in connections of major cytoskeletal structures to the plasma membrane. May inhibit herpes simplex virus 1 infection at an early stage. Plays a role in regulating the proliferation, migration, and adhesion of human lymphoid cells and participates in immunologic synapse formation; FERM domain containing 9606.ENSP00000353414 ATP2B2 1243 Plasma membrane calcium-transporting ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting 9606.ENSP00000353422 VPS13A 3174 Vacuolar protein sorting-associated protein 13A; May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane 9606.ENSP00000353444 RAB5B 215 Ras-related protein Rab-5B; Protein transport. Probably involved in vesicular traffic (By similarity); Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000353452 MYLK 1914 Myosin light chain kinase, smooth muscle; Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological [...] 9606.ENSP00000353458 BAZ1A 1556 Bromodomain adjacent to zinc finger domain protein 1A; Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S pha [...] 9606.ENSP00000353462 CASS4 786 Cas scaffolding protein family member 4; Docking protein that plays a role in tyrosine kinase- based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading; Belongs to the CAS family 9606.ENSP00000353463 GATAD2A 633 Transcriptional repressor p66-alpha; Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2B; GATA zinc finger domain containing 9606.ENSP00000353470 C20orf96 363 Uncharacterized protein C20orf96; Chromosome 20 open reading frame 96 9606.ENSP00000353475 CLDN7 211 Claudin-7; Plays a major role in tight junction-specific obliteration of the intercellular space; Belongs to the claudin family 9606.ENSP00000353491 ZNF460 562 Zinc finger protein 460; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000353496 LZTS3 627 Leucine zipper putative tumor suppressor 3; May be involved in promoting the maturation of dendritic spines, probably via regulating SIPA1L1 levels at the postsynaptic density of synapses; Belongs to the LZTS3 family 9606.ENSP00000353508 MAP2 1827 Microtubule-associated protein 2; The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules; A-kinase anchoring proteins 9606.ENSP00000353512 PARP9 854 Poly [ADP-ribose] polymerase 9; ADP-ribosyltransferase which, in association with E3 ligase DTX3L, plays a role in DNA damage repair and in immune responses including interferon-mediated antiviral defenses. Within the complex, enhances DTX3L E3 ligase activity which is further enhanced by PARP9 binding to poly(ADP- ribose). In association with DTX3L and in presence of E1 and E2 enzymes, mediates NAD(+)-dependent mono-ADP- ribosylation of ubiquitin which prevents ubiquitin conjugation to substrates such as histones. During DNA repair, PARP1 recruits PARP9/BAL1-DTX3L complex to DNA damag [...] 9606.ENSP00000353516 OR2W3 314 Olfactory receptor 2W3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000353518 ANKS1A 1134 Ankyrin repeat and SAM domain-containing protein 1A; Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction (By similarity); Ankyrin repeat domain containing 9606.ENSP00000353537 OR5B21 309 Olfactory receptor 5B21; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000353538 LRRCC1 1032 Leucine-rich repeat and coiled-coil domain-containing protein 1; Required for the organization of the mitotic spindle. Maintains the structural integrity of centrosomes during mitosis 9606.ENSP00000353549 CDC16 620 Cell division cycle protein 16 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains; Belongs to the APC6/CDC16 family 9606.ENSP00000353557 SLC35F1 408 Solute carrier family 35 member F1; Putative solute transporter 9606.ENSP00000353575 EIF2B3 452 Translation initiation factor eIF-2B subunit gamma; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family 9606.ENSP00000353582 NRP2 931 Neuropilin-2; High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF 9606.ENSP00000353590 MYH10 2007 Myosin-10; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Involved with LARP6 in the stabilization of type I collagen mRNAs for CO1A1 and CO1A2. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the central part but not the margins of spreading cells), and lamellipodial extension; this function is mechanically antagonized by MYH9; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000353600 SULT1A4 295 Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4; Sulfotransferase family 1A member 4; Sulfotransferases, cytosolic 9606.ENSP00000353608 DSC3 896 Desmocollin-3; Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms; Desmosomal cadherins 9606.ENSP00000353639 CLPSL2 153 Colipase-like protein 2; Colipase like 2 9606.ENSP00000353646 PLEKHG4 1191 Puratrophin-1; Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi; Pleckstrin homology domain containing 9606.ENSP00000353650 FABP12 140 Fatty acid-binding protein 12; May play a role in lipid transport; Fatty acid binding protein family 9606.ENSP00000353652 ZNF528 628 Zinc finger protein 528; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000353654 COL4A2 1712 Collagen alpha-2(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen 9606.ENSP00000353670 SPOCD1 1216 Protein phosphatase 1 regulatory subunits 9606.ENSP00000353701 DPP3 737 Dipeptidyl peptidase 3; Cleaves and degrades bioactive peptides, including angiotensin, Leu-enkephalin and Met-enkephalin. Also cleaves Arg-Arg-beta-naphthylamide (in vitro); Belongs to the peptidase M49 family 9606.ENSP00000353717 CCDC144A 1427 Coiled-coil domain containing 144A 9606.ENSP00000353720 CES1 568 Liver carboxylesterase 1; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester. Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine. Catalyzes the transesterification of cocaine to form cocaethylene. Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate; Carboxylesterases 9606.ENSP00000353731 DPP4 766 Dipeptidyl peptidase 4; Cell surface glycoprotein receptor involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Acts as a positive regulator of T-cell coactivation, by binding at least ADA, CAV1, IGF2R, and PTPRC. Its binding to CAV1 and CARD11 induces T-cell proliferation and NF- kappa-B activation in a T-cell receptor/CD3-dependent manner. Its interaction with ADA also regulates lymphocyte-epithelial cell adhesion. In association with FAP is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and in [...] 9606.ENSP00000353732 CLIP3 547 CAP-Gly domain-containing linker protein 3; Functions as a cytoplasmic linker protein. Involved in TGN-endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes; Ankyrin repeat domain containing 9606.ENSP00000353734 PLAGL1 463 Zinc finger protein PLAGL1; Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000353735 TOPORS 1045 E3 ubiquitin-protein ligase Topors; Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage- induced cell death through IKBKE sumoylation; Ring finger proteins 9606.ENSP00000353739 PCMTD1 357 protein-L-isoaspartate O-methyltransferase domain containing 1; Belongs to the methyltransferase superfamily. L- isoaspartyl/D-aspartyl protein methyltransferase family 9606.ENSP00000353741 ETF1 437 Eukaryotic peptide chain release factor subunit 1; Directs the termination of nascent peptide synthesis (translation) in response to the termination codons UAA, UAG and UGA. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons 9606.ENSP00000353742 KRTAP26-1 210 Keratin-associated protein 26-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the PMG family 9606.ENSP00000353767 MMP17 603 Matrix metalloproteinase-17; Endopeptidase that degrades various components of the extracellular matrix, such as fibrin. May be involved in the activation of membrane-bound precursors of growth factors or inflammatory mediators, such as tumor necrosis factor-alpha. May also be involved in tumoral process. Cleaves pro-TNF-alpha at the '74-Ala-|-Gln-75' site. Not obvious if able to proteolytically activate progelatinase A. Does not hydrolyze collagen types I, II, III, IV and V, gelatin, fibronectin, laminin, decorin nor alpha1- antitrypsin 9606.ENSP00000353769 SCAF1 1312 Splicing factor, arginine/serine-rich 19; May function in pre-mRNA splicing 9606.ENSP00000353770 RRM2 449 Ribonucleoside-diphosphate reductase subunit M2; Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling; Belongs to the ribonucleoside diphosphate reductase small chain family 9606.ENSP00000353785 TPPP 219 Tubulin polymerization-promoting protein; May play a role in the polymerization of tubulin into microtubules, microtubule bundling and the stabilization of existing microtubules, thus maintaining the integrity of the microtubule network. May play a role in mitotic spindle assembly and nuclear envelope breakdown; Belongs to the TPPP family 9606.ENSP00000353791 SLC6A9 706 Sodium- and chloride-dependent glycine transporter 1; Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission; Solute carriers 9606.ENSP00000353793 WDHD1 1129 WD repeat and HMG-box DNA-binding protein 1; Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication; WD repeat domain containing 9606.ENSP00000353794 FBXL22 247 F-box and leucine-rich protein 22; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC); F-box and leucine rich repeat proteins 9606.ENSP00000353796 ANKRD53 530 Ankyrin repeat domain-containing protein 53; Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization; Ankyrin repeat domain containing 9606.ENSP00000353820 CYP2D6 497 Cytochrome P450 2D6; Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants; Cytochrome P450 family 2 9606.ENSP00000353824 PIM3 326 Serine/threonine-protein kinase pim-3; Proto-oncogene with serine/threonine kinase activity that can prevent apoptosis, promote cell survival and protein translation. May contribute to tumorigenesis through: the delivery of survival signaling through phosphorylation of BAD which induces release of the anti-apoptotic protein Bcl-X(L), the regulation of cell cycle progression, protein synthesis and by regulation of MYC transcriptional activity. Additionally to this role on tumorigenesis, can also negatively regulate insulin secretion by inhibiting the activation of MAPK1/3 (ERK1/2), thro [...] 9606.ENSP00000353826 LONP1 959 Lon protease homolog, mitochondrial; ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single- stranded, site-specific, and strand-specific manner. May regulate mi [...] 9606.ENSP00000353850 ITGB1BP1 200 Integrin beta-1-binding protein 1; Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin- dependent manner. Involved in the regulation of beta-1 integrin- containing focal adhesion (FA) site dynamics by controlli [...] 9606.ENSP00000353854 C15orf39 1047 Uncharacterized protein C15orf39; Chromosome 15 open reading frame 39 9606.ENSP00000353863 ZNF148 794 Zinc finger protein 148; Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the G-rich box in the enhancer region of these genes; Zinc fingers C2H2-type 9606.ENSP00000353864 PAK3 580 Serine/threonine-protein kinase PAK 3; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstrea [...] 9606.ENSP00000353868 PCED1A 454 PC-esterase domain containing 1A; Belongs to the PC-esterase family 9606.ENSP00000353874 TLR9 1032 Toll-like receptor 9; Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Controls lymphocyte response to Helicobacter infection (By similarity). Upon CpG stimulation, induces B-cell proliferation, activation, survival and an [...] 9606.ENSP00000353893 LGALS14 168 Placental protein 13-like; Binds beta-galactoside and lactose. Strong inducer of T- cell apoptosis; Galectins 9606.ENSP00000353904 CSNK1G3 455 Casein kinase I isoform gamma-3; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity) 9606.ENSP00000353910 FUT8 575 Alpha-(1,6)-fucosyltransferase; Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans; Belongs to the glycosyltransferase 23 family 9606.ENSP00000353915 HTR4 428 5-hydroxytryptamine receptor 4; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase; 5-hydroxytryptamine receptors, G protein-coupled 9606.ENSP00000353920 ADARB1 741 Double-stranded RNA-specific editase 1; Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependen [...] 9606.ENSP00000353942 CCDC135 874 Dynein regulatory complex subunit 7; Key component of the nexin-dynein regulatory complex (N- DRC), essential for N-DRC integrity. Involved in the regulation of flagellar motility; Belongs to the DRC7 family 9606.ENSP00000353988 OR10A3 314 Olfactory receptor 10A3; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000354001 KRTAP12-2 146 Keratin-associated protein 12-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 12 family 9606.ENSP00000354003 GYPA 150 Glycophorin-A; Glycophorin A is the major intrinsic membrane protein of the erythrocyte. The N-terminal glycosylated segment, which lies outside the erythrocyte membrane, has MN blood group receptors. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane. Is a receptor for influenza virus. Is a receptor for Plasmodium falciparum erythrocyte-binding antigen 175 (EBA-175); binding of EBA-175 is dependent on sialic acid residues of the O-linked glycans. Appears to be a receptor for [...] 9606.ENSP00000354006 TRPM6 2022 Transient receptor potential cation channel subfamily M member 6; Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region; In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6 sub-subfamily 9606.ENSP00000354020 GJA9 515 Gap junction alpha-9 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell 9606.ENSP00000354032 BSCL2 462 Seipin; Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues 9606.ENSP00000354040 GTPBP4 634 Nucleolar GTP-binding protein 1; Involved in the biogenesis of the 60S ribosomal subunit; Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. NOG subfamily 9606.ENSP00000354053 GLT8D2 349 Glycosyltransferase 8 domain containing 2 9606.ENSP00000354061 SCYL2 929 SCY1-like protein 2; Component of AP2-containing clathrin coated structures at the plasma membrane or of endocytic coated vesicles. According to PubMed:15809293, probable serine/threonine-protein kinase that phosphorylates, in vitro, the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L- lysine. According to PubMed:16914521, has no detectable kinase activity in vitro. May regulate clathrin-dependent trafficking between the TGN and/or the endosomal system; Armadillo-like helical domain containing 9606.ENSP00000354080 SCUBE1 988 Signal peptide, CUB and EGF-like domain-containing protein 1; Could function as an adhesive molecule and its matrix bound and soluble fragments may play a critical role in vascular biology 9606.ENSP00000354085 ANKHD1 2542 Ankyrin repeat and KH domain-containing protein 1; May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases; Belongs to the mask family 9606.ENSP00000354086 MRPL37 423 Mitochondrial ribosomal protein L37; Belongs to the mitochondrion-specific ribosomal protein mL37 family 9606.ENSP00000354090 SIGLEC14 396 Sialic acid-binding Ig-like lectin 14; Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors; Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family 9606.ENSP00000354109 RGS22 1264 Regulator of G-protein signaling 22; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form; Regulators of G-protein signaling 9606.ENSP00000354111 DNAJC5 198 DnaJ homolog subfamily C member 5; Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity); DNAJ heat shock proteins 9606.ENSP00000354125 EIF3B 814 Eukaryotic translation initiation factor 3 subunit B; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termin [...] 9606.ENSP00000354152 MTHFSD 383 Methenyltetrahydrofolate synthase domain-containing protein; Methenyltetrahydrofolate synthetase domain containing; RNA binding motif containing 9606.ENSP00000354163 FAM110A 295 Protein FAM110A; Family with sequence similarity 110 member A; Belongs to the FAM110 family 9606.ENSP00000354201 UBE2Z 354 Ubiquitin-conjugating enzyme E2 Z; Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation; Ubiquitin conjugating enzymes E2 9606.ENSP00000354204 TOMM20L 152 TOMM20-like protein 1; Translocase of outer mitochondrial membrane 20 like 9606.ENSP00000354206 ZNF219 722 Zinc finger protein 219; Transcriptional regulator. Recognizes and binds 2 copies of the core DNA sequence motif 5'-GGGGG-3'. Binds to the HMGN1 promoter and may repress HMGN1 expression. Regulates SNCA expression in primary cortical neurons. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with SOX9 (By similarity). Plays a role in chondrocyte differentiation (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000354207 NTRK3 839 NT-3 growth factor receptor; Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/AKT and the MAPK pathways, that control cell survival and differentiation; I-set domain containing 9606.ENSP00000354213 HS3ST3B1 390 Heparan sulfate glucosamine 3-O-sulfotransferase 3B1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N- unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate. Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. Unlike 3-OST-1, does not convert non- anticoagulant heparan sulfate to anti [...] 9606.ENSP00000354223 MPC1 109 Mitochondrial pyruvate carrier 1; Mediates the uptake of pyruvate into mitochondria; Belongs to the mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family 9606.ENSP00000354227 C11orf80 572 Type 2 DNA topoisomerase 6 subunit B-like; Isoform 3: Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles 9606.ENSP00000354238 ENPP1 925 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1; By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3',5'-cAMP to AMP. May also be [...] 9606.ENSP00000354251 NCKAP1 1134 Nck-associated protein 1; Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes; Belongs to the HEM-1/HEM-2 family 9606.ENSP00000354255 CPZ 652 Carboxypeptidase Z; Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing; M14 carboxypeptidases 9606.ENSP00000354280 PRSS3 304 Trypsin-3; Digestive protease specialized for the degradation of trypsin inhibitors. In the ileum, may be involved in defensin processing, including DEFA5; Belongs to the peptidase S1 family 9606.ENSP00000354294 CTRB1 263 Chymotrypsinogen B1; Belongs to the peptidase S1 family 9606.ENSP00000354305 ZSCAN12 604 Zinc finger and SCAN domain-containing protein 12; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000354335 MPEG1 716 Macrophage-expressed gene 1 protein; Macrophage expressed 1 9606.ENSP00000354340 UBA3 463 NEDD8-activating enzyme E1 catalytic subunit; Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Down-regulates steroid receptor activity. Necessary for cell cycle progression 9606.ENSP00000354346 MATR3 847 Matrin-3; May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. May bind to specific miRNA hairpins 9606.ENSP00000354360 LAMC3 1575 Laminin subunit gamma-3; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000354361 RFWD3 774 E3 ubiquitin-protein ligase RFWD3; E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage. Plays a key role in RPA- mediated DNA damage signaling and repair. Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination. Also mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA [...] 9606.ENSP00000354376 RAB25 213 Ras-related protein Rab-25; Involved in the regulation of cell survival. Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia. Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions (By similarity). May selectively regulate the apical recycling pathway. Together with MYO5B regulates transcytosis (By similarity); Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000354377 ZNF37A 561 Zinc finger protein 37A; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000354387 NMRK1 199 Nicotinamide riboside kinase 1; Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3- deazaguanosine; Belongs to the uridine kinase family. NRK subfamily 9606.ENSP00000354394 STAT1 750 Signal transducer and activator of transcription 1-alpha/beta; Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerize and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF [...] 9606.ENSP00000354398 CYTH1 398 Cytohesin-1; Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays a role in the epithelial polarization (By similarity); Pleckstrin homology domain containing 9606.ENSP00000354414 ZNF627 461 Zinc finger protein 627; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000354415 MICU1 476 Calcium uptake protein 1, mitochondrial; Key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake. Acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening. Enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm. [...] 9606.ENSP00000354416 CCL28 127 C-C motif chemokine 28; Chemotactic activity for resting CD4, CD8 T-cells and eosinophils. Binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner; Chemokine ligands 9606.ENSP00000354425 JADE2 791 E3 ubiquitin-protein ligase Jade-2; Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Acts as a E3 ubiquitin- protein ligase mediating the ubiquitination and subsequent proteasomal degradation of target protein histone demethylase KDM1A. Also acts as a ubiquitin ligase E3 toward itself. Positive regulator of neurogenesis (By similarity); PHD finger proteins 9606.ENSP00000354432 ANKRD30A 1341 Ankyrin repeat domain-containing protein 30A; Ankyrin repeat domain containing 9606.ENSP00000354451 IQGAP3 1631 Ras GTPase-activating-like protein IQGAP3; IQ motif containing GTPase activating protein 3 9606.ENSP00000354453 ZFP2 461 Zinc finger protein 2 homolog; Probable transcription factor involved in neuronal differentiation and/or phenotypic maintenance; Zinc fingers C2H2-type 9606.ENSP00000354458 C8A 584 Complement component C8 alpha chain; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself; Belongs to the complement C6/C7/C8/C9 family 9606.ENSP00000354461 FAM109A 262 Sesquipedalian-1; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane; Pleckstrin homology domain containing 9606.ENSP00000354468 CYB5R3 334 NADH-cytochrome b5 reductase 3; Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction 9606.ENSP00000354476 SREBF2 1141 Sterol regulatory element-binding protein 2; Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking region of the LDRL and HMG-CoA synthase genes; Basic helix-loop-helix proteins 9606.ENSP00000354478 DLX1 255 Homeobox protein DLX-1; Plays a role as a transcriptional activator or repressor. Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofac [...] 9606.ENSP00000354481 BRINP2 783 BMP/retinoic acid-inducible neural-specific protein 2; Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition 9606.ENSP00000354483 DUSP27 1158 Inactive dual specificity phosphatase 27; May be required for myofiber maturation 9606.ENSP00000354487 ZEB1 1125 Zinc finger E-box-binding homeobox 1; Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG [...] 9606.ENSP00000354488 TNNI1 187 Troponin I, slow skeletal muscle; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity 9606.ENSP00000354490 ATP1A2 1020 Sodium/potassium-transporting ATPase subunit alpha-2; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily 9606.ENSP00000354497 FAN1 1017 Fanconi-associated nuclease 1; Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL- induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates. Not involved in DNA double-strand breaks resection. Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Pro [...] 9606.ENSP00000354498 PHLDB1 1377 Pleckstrin homology like domain family B member 1 9606.ENSP00000354499 MT-CO1 513 Cytochrome c oxidase subunit 1; Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B 9606.ENSP00000354501 ZNF277 450 Zinc finger protein 277; May be involved in transcriptional regulation 9606.ENSP00000354504 ASTN2 1288 Astrotactin-2; Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5- trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref.6); Fibronectin type III domain containing 9606.ENSP00000354511 COMT 271 Catechol O-methyltransferase; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000354518 ZNF830 372 Zinc finger protein 830; Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks for [...] 9606.ENSP00000354519 INPP5F 1132 Phosphatidylinositide phosphatase SAC2; Inositol 4-phosphatase which mainly acts on phosphatidylinositol 4-phosphate. May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol, for a sequential dephosphorylation of phosphatidylinositol 4,5-bisphosphate at the 5 and 4 position of inositol, thus playing an important role in the endocytic recycling. Regulator of TF:TFRC and integrins recycling pathway, is also involved in cell migration mechanisms. Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation. Negatively reg [...] 9606.ENSP00000354522 TOP1 765 DNA topoisomerase 1; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus remov [...] 9606.ENSP00000354525 MRPL24 216 Mitochondrial ribosomal protein L24; Belongs to the universal ribosomal protein uL24 family 9606.ENSP00000354532 PNP 289 Purine nucleoside phosphorylase; The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta- (deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate 9606.ENSP00000354536 ASTN1 1294 Astrotactin-1; Neuronal adhesion molecule that is required for normal migration of young postmitotic neuroblasts along glial fibers, especially in the cerebellum. Required for normal rate of migration of granule cells during brain development and for normal cerebellum development; Belongs to the astrotactin family 9606.ENSP00000354543 TSC22D2 780 TSC22 domain family member 2 9606.ENSP00000354553 C1orf85 406 Glycosylated lysosomal membrane protein; Chromosome 1 open reading frame 85; Belongs to the GLMP family 9606.ENSP00000354554 MT-CYB 380 Cytochrome b; Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis 9606.ENSP00000354558 MTOR 2549 Serine/threonine-protein kinase mTOR; Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals. MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. This includes phosphorylation of EIF [...] 9606.ENSP00000354560 KIFAP3 792 Kinesin-associated protein 3; Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity); Armadillo-like helical domain containing 9606.ENSP00000354566 CD3E 207 T-cell surface glycoprotein CD3 epsilon chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of [...] 9606.ENSP00000354571 RNF121 327 Ring finger protein 121; Belongs to the RNF121 family 9606.ENSP00000354573 MACF1 5430 Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5; Isoform 2: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling f [...] 9606.ENSP00000354580 MRPL21 205 Mitochondrial ribosomal protein L21 9606.ENSP00000354581 GPX6 221 Glutathione peroxidase 6; Selenoproteins 9606.ENSP00000354583 MFAP3L 409 Microfibrillar-associated protein 3-like; May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis; I-set domain containing 9606.ENSP00000354590 SFT2D1 159 Vesicle transport protein SFT2A; May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex 9606.ENSP00000354597 DENND4B 1496 DENN domain-containing protein 4B; Guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form; DENN/MADD domain containing 9606.ENSP00000354607 FZD5 585 Frizzled-5; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to [...] 9606.ENSP00000354608 PPT2 308 Lysosomal thioesterase PPT2; Removes thioester-linked fatty acyl groups from various substrates including S-palmitoyl-CoA. Has the highest S- thioesterase activity for the acyl groups palmitic and myristic acid followed by other short- and long-chain acyl substrates. However, because of structural constraints, is unable to remove palmitate from peptides or proteins 9606.ENSP00000354610 AMY2B 511 Amylase, alpha 2B; Belongs to the glycosyl hydrolase 13 family 9606.ENSP00000354612 PTGS1 599 Prostaglandin G/H synthase 1; Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis. Involved in the constitutive production of prostanoids in particular in the stomach and platelets. In gastric epithelial cells, it is a key step in the generation of prostaglandins, such as prostaglandin E2 (PGE2), which plays an important role in cytoprotection. In platelets, it is involved in the generation of thromboxane A2 (TXA2), which promotes platelet activation and aggregation, vasoconstriction and proliferation of vascular smooth muscle cells; Belongs to th [...] 9606.ENSP00000354621 SMURF1 757 E3 ubiquitin-protein ligase SMURF1; E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS. Plays a role in dendrite formation by melanocytes 9606.ENSP00000354622 RUNDC1 613 RUN domain-containing protein 1; May play a role as p53/TP53 inhibitor and thus may have oncogenic activity 9606.ENSP00000354623 DFNB31 907 Whirlin; Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear 9606.ENSP00000354632 MT-ATP6 226 ATP synthase subunit a; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subuni [...] 9606.ENSP00000354633 TAF11 211 Transcription initiation factor TFIID subunit 11; Core TAFII present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively); Belongs to the TAF11 family 9606.ENSP00000354643 DIO1 249 Type I iodothyronine deiodinase; Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into T3 (3,5,3'-triiodothyronine) and of T3 into T2 (3,3'-diiodothyronine). Plays a role in providing a source of plasma T3 by deiodination of T4 in peripheral tissues such as liver and kidney 9606.ENSP00000354645 GPATCH3 525 G patch domain-containing protein 3; Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development. Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6; G [...] 9606.ENSP00000354649 MAGT1 367 Magnesium transporter protein 1; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with TUSC3. In its oxidized form proposed to form transient mixed disulf [...] 9606.ENSP00000354652 NPY1R 384 Neuropeptide Y receptor type 1; Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is NPY > [Pro-34] PYY, PYY and [Leu-31, Pro-34] NPY > NPY (2-36) > [Ile-31, Gln-34] PP and PYY (3-36) > PP > NPY free acid 9606.ENSP00000354660 MAGEC2 373 Melanoma-associated antigen C2; Proposed to enhance ubiquitin ligase activity of RING- type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex; MAGE family 9606.ENSP00000354665 MT-ND6 174 NADH-ubiquinone oxidoreductase chain 6; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity); NADH:ubiquinone oxidoreductase core subunits 9606.ENSP00000354669 FAM63A 517 Ubiquitin carboxyl-terminal hydrolase MINDY-1; Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover; Belongs to the peptidase MINDY family. FAM63 subfamily 9606.ENSP00000354671 MAST2 1798 Microtubule-associated serine/threonine-protein kinase 2; Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity); PDZ domain containing 9606.ENSP00000354677 GPX7 187 Glutathione peroxidase 7; It protects esophageal epithelia from hydrogen peroxide- induced oxidative stress. It suppresses acidic bile acid-induced reactive oxigen species (ROS) and protects against oxidative DNA damage and double-strand breaks; Belongs to the glutathione peroxidase family 9606.ENSP00000354681 OPA1 997 Dynamin-like 120 kDa protein, mitochondrial; Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission. Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion. Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation. The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes. Plays a role in remodeling crist [...] 9606.ENSP00000354686 ZNF652 606 Zinc finger protein 652; Functions as a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000354687 MT-ND1 318 NADH-ubiquinone oxidoreductase chain 1; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity); NADH:ubiquinone oxidoreductase core subunits 9606.ENSP00000354688 FAM45A 357 Protein FAM45A; Family with sequence similarity 45 member A 9606.ENSP00000354689 SLC39A13 371 Zinc transporter ZIP13; Acts as a zinc-influx transporter; Belongs to the ZIP transporter (TC 2.A.5) family 9606.ENSP00000354691 FCRL5 977 Fc receptor-like protein 5; May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells; CD molecules 9606.ENSP00000354694 ZNF485 441 Zinc finger protein 485; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000354707 OR10Z1 313 Olfactory receptor 10Z1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000354718 AKAP13 2817 A-kinase anchor protein 13; Scaffold protein that plays an important role in assembling signaling complexes downstream of several types of G protein-coupled receptors. Activates RHOA in response to signaling via G protein-coupled receptors via its function as Rho guanine nucleotide exchange factor. May also activate other Rho family members. Part of a kinase signaling complex that links ADRA1A and ADRA1B adrenergic receptor signaling to the activation of downstream p38 MAP kinases, such as MAPK11 and MAPK14. Part of a signaling complex that links ADRA1B signaling to the activation of R [...] 9606.ENSP00000354720 SMC3 1217 Structural maintenance of chromosomes protein 3; Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement 9606.ENSP00000354721 SLC26A1 701 Sulfate anion transporter 1; Mediates sulfate transport with high affinity. Mediates oxalate transport. Mediates bicarbonate transport (By similarity). Does not accept succinate as cosubstrate (By similarity); Solute carriers 9606.ENSP00000354723 H2BFWT 175 Histone H2B type W-T; Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function 9606.ENSP00000354724 PCGF3 242 Polycomb group RING finger protein 3; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity. Plays a redundant role with PCGF5 as part of a PRC1-like complex that mediates mon [...] 9606.ENSP00000354728 MT-ND4L 98 NADH-ubiquinone oxidoreductase chain 4L; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity) 9606.ENSP00000354730 CHAMP1 812 Chromosome alignment-maintaining phosphoprotein 1; Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore; Zinc fingers C2H2-type 9606.ENSP00000354733 SBNO2 1366 Protein strawberry notch homolog 2; Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions. Inhibits the DCSTAMP- repressive activity of TAL1, hence enhancing the access of the transcription factor MITF to the DC-STAMP promoter in osteoclast. Plays a role in bone homeostasis; required as a positive regulator in TNFSF11//RANKL-mediated osteoclast fusion via a DCSTAMP- dependent pathway. May also be required in the regulation of osteoblast differentiation (By similarity). Involved in the transcriptional corepression of NF-kappaB in macrophages. Pl [...] 9606.ENSP00000354739 RPL12 165 60S ribosomal protein L12; Binds directly to 26S ribosomal RNA 9606.ENSP00000354742 IPO9 1041 Importin-9; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis re [...] 9606.ENSP00000354762 COA3 106 Cytochrome c oxidase assembly factor 3 homolog, mitochondrial; Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly; Belongs to the COA3 family 9606.ENSP00000354772 MVB12B 319 Multivesicular body subunit 12B; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies 9606.ENSP00000354774 SPRYD7 196 SPRY domain containing 7 9606.ENSP00000354775 PJA2 708 E3 ubiquitin-protein ligase Praja-2; Has E2-dependent E3 ubiquitin-protein ligase activity. Responsible for ubiquitination of cAMP-dependent protein kinase type I and type II-alpha/beta regulatory subunits and for targeting them for proteasomal degradation. Essential for PKA- mediated long-term memory processes; Ring finger proteins 9606.ENSP00000354777 TBKBP1 615 TANK-binding kinase 1-binding protein 1; Adapter protein which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity 9606.ENSP00000354778 CNTNAP2 1331 Contactin-associated protein-like 2; Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction; Belongs to the neurexin family 9606.ENSP00000354782 CD247 164 T-cell surface glycoprotein CD3 zeta chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of do [...] 9606.ENSP00000354791 DCTN1 1278 Dynactin subunit 1; Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule. C [...] 9606.ENSP00000354794 ZNF521 1311 Zinc finger protein 521; Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signaling and in the regulation of the immature compartment of the hematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000354800 OR5D13 314 Olfactory receptor 5D13; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000354812 C9orf114 376 Putative methyltransferase C9orf114; Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase. Also involved in chromosome alignment. May promote centrosome maturation probably by recruiting A-kinase anchor protein AKAP9 to centrosomes in early mitosis. Binds specifically to miRNA MIR145 hairpin, regulates MIR145 expression at a postranscriptional level 9606.ENSP00000354813 MT-ND5 603 NADH-ubiquinone oxidoreductase chain 5; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity); NADH:ubiquinone oxidoreductase core subunits 9606.ENSP00000354822 XAF1 301 XIAP-associated factor 1; Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti- caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha- induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 [...] 9606.ENSP00000354826 CALD1 793 Caldesmon; Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin. Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also play an essential role during cellular mitosis [...] 9606.ENSP00000354829 SGMS1 413 Phosphatidylcholine:ceramide cholinephosphotransferase 1; Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell [...] 9606.ENSP00000354830 DDIT4L 193 DNA damage-inducible transcript 4-like protein; Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1 9606.ENSP00000354837 ARHGEF2 986 Rho guanine nucleotide exchange factor 2; Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, innate immune response, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in PubMed:9857026. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellula [...] 9606.ENSP00000354842 TOX 526 Thymocyte selection-associated high mobility group box protein TOX; May play a role in regulating T-cell development 9606.ENSP00000354848 KIAA1279 621 KIF1-binding protein; Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development; Belongs to the KIF1-binding protein family 9606.ENSP00000354850 MGEA5 916 Protein O-GlcNAcase; Isoform 1: Cleaves GlcNAc but not GalNAc from O- glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc and 4- methylumbelliferone-GlcNAc as substrates but not p-nitrophenyl- beta-GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro). Does not bind acetyl-CoA and does not have histone acetyltransferase activity; Belongs to the glycosyl hydrolase 84 family 9606.ENSP00000354855 NFE2L1 772 Nuclear factor erythroid 2-related factor 1; Activates erythroid-specific, globin gene expression; Basic leucine zipper proteins 9606.ENSP00000354859 DRD2 443 D(2) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000354871 PPEF1 653 Serine/threonine-protein phosphatase with EF-hands 1; May have a role in the recovery or adaptation response of photoreceptors. May have a role in development; EF-hand domain containing 9606.ENSP00000354874 C17orf47 570 Uncharacterized protein C17orf47; Chromosome 17 open reading frame 47 9606.ENSP00000354876 MT-CO2 227 Cytochrome c oxidase subunit 2; Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1 9606.ENSP00000354878 KIF21A 1674 Kinesin-like protein KIF21A; Microtubule-binding motor protein probably involved in neuronal axonal transport. In vitro, has a plus-end directed motor activity (By similarity); Kinesins 9606.ENSP00000354884 RASSF9 435 Ras association domain-containing protein 9; May play a role in regulating vesicuar trafficking in cells; Ras association domain family 9606.ENSP00000354886 SLC25A47 308 Solute carrier family 25 member 47; Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential; Solute carriers 9606.ENSP00000354888 CCDC152 254 Coiled-coil domain containing 152 9606.ENSP00000354891 FAM163A 167 Protein FAM163A; Family with sequence similarity 163 member A; Belongs to the FAM163 family 9606.ENSP00000354896 GRM1 1194 Metabotropic glutamate receptor 1; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phosphatidylinositol-calcium second messenger system. May participate in the central action of glutamate in the CNS, such as long-term potentiation in the hippocampus and long-term depression in the cerebellum 9606.ENSP00000354901 CXCL9 125 C-X-C motif chemokine 9; Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response. Chemotactic for activated T-cells. Binds to CXCR3; Belongs to the intercrine alpha (chemokine CxC) family 9606.ENSP00000354910 NRG2 850 Pro-neuregulin-2, membrane-bound isoform; Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. May also promote the heterodimerization with the EGF receptor; Belongs to the neuregulin family 9606.ENSP00000354911 TIFA 184 TRAF-interacting protein with FHA domain-containing protein A; Adapter protein which mediates the IRAK1 and TRAF6 interaction following IL-1 stimulation, resulting in the downstream activation of NF-kappa-B and AP-1 pathways. Induces the oligomerization and polyubiquitination of TRAF6, which leads to the activation of TAK1 and IKK through a proteasome-independent mechanism 9606.ENSP00000354912 MAGEE1 957 Melanoma-associated antigen E1; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex; MAGE family 9606.ENSP00000354916 CDC14A 623 Dual specificity protein phosphatase CDC14A; Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis; Belongs to the protein-tyrosine phosphatase family. Non-receptor class CDC14 subfamily 9606.ENSP00000354919 VEPH1 833 Ventricular zone-expressed PH domain-containing protein homolog 1; Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits dissociation of activated SMAD2 from TGFBR1, impeding its nuclear accumulation and resulting in impaired TGF-beta signaling. May also affect FOXO, Hippo and Wnt signaling; Armadillo-like helical domain containing 9606.ENSP00000354920 METTL13 699 Methyltransferase-like protein 13; Methyltransferase like 13; Belongs to the methyltransferase superfamily 9606.ENSP00000354923 DMD 3685 Dystrophin; Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission; X-linked mental retardation 9606.ENSP00000354927 MAP3K3 657 Mitogen-activated protein kinase kinase kinase 3; Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators 9606.ENSP00000354932 TLR1 786 Toll-like receptor 1; Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides. Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response 9606.ENSP00000354947 CAPZA2 286 F-actin-capping protein subunit alpha-2; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments 9606.ENSP00000354952 GAB2 676 GRB2-associated-binding protein 2; Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis; Pleckstrin homology domain containing 9606.ENSP00000354957 SMC5 1101 Structural maintenance of chromosomes protein 5; Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies ( [...] 9606.ENSP00000354958 FAM189B 668 Protein FAM189B; Family with sequence similarity 189 member B 9606.ENSP00000354960 COLGALT2 626 Procollagen galactosyltransferase 2; Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen; Belongs to the glycosyltransferase 25 family 9606.ENSP00000354961 MT-ND4 459 NADH-ubiquinone oxidoreductase chain 4; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity) 9606.ENSP00000354964 ZNF318 2279 Zinc finger protein 318; Repressed AR-mediated transcriptional activation. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division (By similarity); Zinc fingers C2H2-type 9606.ENSP00000354972 NAA35 725 N-alpha-acetyltransferase 35, NatC auxiliary subunit; Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells; N(alpha)-acetyltransferase subunits 9606.ENSP00000354982 MT-CO3 261 Cytochrome c oxidase subunit 3; Subunits I, II and III form the functional core of the enzyme complex; Mitochondrial complex IV: cytochrome c oxidase subunits 9606.ENSP00000354991 ALPK2 2170 Alpha-protein kinase 2; Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation; I-set domain containing 9606.ENSP00000354995 ABCG1 678 ATP-binding cassette sub-family G member 1; Transporter involved in macrophage lipid homeostasis. Is an active component of the macrophage lipid export complex. Could also be involved in intracellular lipid transport processes. The role in cellular lipid homeostasis may not be limited to macrophages; ATP binding cassette subfamily G 9606.ENSP00000355001 POU3F3 500 POU domain, class 3, transcription factor 3; Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development. Is implicated in an enhancer activity at the embryonic met- mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity); POU class homeoboxes and pseudogenes 9606.ENSP00000355011 ILF2 390 Interleukin enhancer-binding factor 2; Appears to function predominantly as a heterodimeric complex with ILF3. This complex may regulate transcription of the IL2 gene during T-cell activation. It can also promote the formation of stable DNA-dependent protein kinase holoenzyme complexes on DNA. Essential for the efficient reshuttling of ILF3 (isoform 1 and isoform 2) into the nucleus 9606.ENSP00000355013 CTR9 1173 RNA polymerase-associated protein CTR9 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...] 9606.ENSP00000355014 PJA1 643 E3 ubiquitin-protein ligase Praja-1; Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting; Ring finger proteins 9606.ENSP00000355022 C16orf59 433 Uncharacterized protein C16orf59; Chromosome 16 open reading frame 59 9606.ENSP00000355026 ARHGEF15 841 Rho guanine nucleotide exchange factor 15; Specific GEF for RhoA activation. Does not activate RAC1 or CDC42. Regulates vascular smooth muscle contractility. Negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2; Rho guanine nucleotide exchange factors 9606.ENSP00000355028 DZIP3 1208 E3 ubiquitin-protein ligase DZIP3; E3 Ubiquitin ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Able to specifically bind RNA; Protein phosphatase 1 regulatory subunits 9606.ENSP00000355045 FAM179B 1720 TOG array regulator of axonemal microtubules protein 1; Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity); Belongs to the Crescerin family 9606.ENSP00000355046 MT-ND2 347 NADH-ubiquinone oxidoreductase chain 2; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity); NADH:ubiquinone oxidoreductase core subunits 9606.ENSP00000355050 CTNNBL1 563 Beta-catenin-like protein 1; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis; Armadillo-like helical domain containing 9606.ENSP00000355051 TAF13 124 Transcription initiation factor TFIID subunit 13; Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells; Belongs to the TAF13 family 9606.ENSP00000355053 ZSCAN20 1043 Zinc finger and SCAN domain-containing protein 20; May be involved in transcriptional regulation; Myb/SANT domain containing 9606.ENSP00000355060 ARHGEF10L 1279 Rho guanine nucleotide exchange factor 10-like protein; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC 9606.ENSP00000355064 SHISA4 197 Protein shisa-4; Shisa family member 4 9606.ENSP00000355077 NSMCE1 266 Non-structural maintenance of chromosomes element 1 homolog; Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT- associated PML bodies (AP [...] 9606.ENSP00000355078 ENSG00000216937 486 Coiled-coil domain-containing protein 7; May play a role in tumorigenesis 9606.ENSP00000355082 PCDH18 1135 Protocadherin-18; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000355084 MSRB1 116 Methionine-R-sulfoxide reductase B1; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post- translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)- sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to [...] 9606.ENSP00000355086 DARS2 645 Aspartate--tRNA ligase, mitochondrial; aspartyl-tRNA synthetase 2, mitochondrial; Belongs to the class-II aminoacyl-tRNA synthetase family. Type 1 subfamily 9606.ENSP00000355090 ARHGAP11A 1023 Rho GTPase activating protein 11A 9606.ENSP00000355094 QKI 341 Protein quaking; RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)- UAAY-3' RNA core sequence. Regulates target mRNA stability. In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulat [...] 9606.ENSP00000355110 SMOC1 435 SPARC-related modular calcium-binding protein 1; Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation; SPARC family 9606.ENSP00000355114 DCAF12 453 DDB1- and CUL4-associated factor 12; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000355121 ITPRIPL1 563 Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1; ITPRIP like 1 9606.ENSP00000355124 KRT19 400 Keratin, type I cytoskeletal 19; Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle; Keratins, type I 9606.ENSP00000355133 NOS1AP 506 Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein; Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity) 9606.ENSP00000355140 HOXB1 301 Homeobox protein Hox-B1; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures; HOXL subclass homeoboxes 9606.ENSP00000355141 SEPN1 590 Selenoprotein N; Isoform 2: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (- SH), thus restoring ATP2A2 activity. Acts as a modulator of ryanodine receptor [...] 9606.ENSP00000355155 GRIN3A 1115 Glutamate receptor ionotropic, NMDA 3A; NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. May play a role in the development of dendritic spines. May play a role in PPP2CB-NMDAR mediated signaling mechanism (By similarity) 9606.ENSP00000355156 SUCNR1 334 Succinate receptor 1; Receptor for succinate 9606.ENSP00000355157 FCRL2 508 Fc receptor-like protein 2; May have an regulatory role in normal and neoplastic B cell development; CD molecules 9606.ENSP00000355162 TIGD4 512 Tigger transposable element-derived protein 4; Helix-turn-helix CENPB type domain containing; DNA transposon derived genes 9606.ENSP00000355166 LRRC10 277 Leucine-rich repeat-containing protein 10; May play important roles in cardiac development and/or cardiac function 9606.ENSP00000355167 HORMAD1 394 HORMA domain-containing protein 1; Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process be [...] 9606.ENSP00000355180 COL6A1 1028 Collagen alpha-1(VI) chain; Collagen VI acts as a cell-binding protein; Belongs to the type VI collagen family 9606.ENSP00000355185 DCLRE1A 1040 DNA cross-link repair 1A protein; May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons 9606.ENSP00000355187 LRRTM3 581 Leucine-rich repeat transmembrane neuronal protein 3; Exhibits a limited synaptogenic activity in vitro, restricted to excitatory presynaptic differentiation (By similarity). May play a role in the development and maintenance of the vertebrate nervous system; Belongs to the LRRTM family 9606.ENSP00000355192 CACNA1S 1873 Voltage-dependent L-type calcium channel subunit alpha-1S; Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group 9606.ENSP00000355195 ASB12 318 Ankyrin repeat and SOCS box protein 12; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Ankyrin repeat domain containing 9606.ENSP00000355198 MAGEB3 346 Melanoma-associated antigen B3; MAGE family member B3 9606.ENSP00000355204 FAM110B 370 Protein FAM110B; May be involved in tumor progression 9606.ENSP00000355205 INO80 1556 DNA helicase INO80; DNA helicase and probable main scaffold component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; according to PubMed:20687897 the contribution to DNA double-strand break repair appears to be largely indirect through transcriptional regulation. Recruited by YY1 to YY1-activated genes, where it acts as an essential coactivator. Binds DNA. In vitro, has double-stranded DNA-dependent ATPase activity. Involved in UV-damage excision repair, DNA replication and chromosome segregation durin [...] 9606.ENSP00000355206 MT-ND3 115 NADH-ubiquinone oxidoreductase chain 3; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity) 9606.ENSP00000355210 TMEM184B 407 Transmembrane protein 184B; May activate the MAP kinase signaling pathway 9606.ENSP00000355217 SNX6 418 Sorting nexin-6; Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transp [...] 9606.ENSP00000355228 HMGN2 90 Non-histone chromosomal protein HMG-17; Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation (By similarity); Canonical high mobility group 9606.ENSP00000355231 BECN1 450 Beclin-1; Plays a central role in autophagy. Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2. Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Invo [...] 9606.ENSP00000355237 CDC42BPB 1711 Serine/threonine-protein kinase MRCK beta; Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2. In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Phosphorylates PPP1R12A. In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and su [...] 9606.ENSP00000355241 C19orf45 505 Testis-expressed protein 45; Chromosome 19 open reading frame 45 9606.ENSP00000355245 PAX9 341 Paired box protein Pax-9; Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs; Paired boxes 9606.ENSP00000355249 E2F2 437 Transcription factor E2F2; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC- 3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from g1 to s phase. E2F2 binds specifically to RB1 in a cell-cycle dependent manner; Belongs to the E2F/DP family 9606.ENSP00000355250 KIAA0753 967 Protein moonraker; Involved in centriole duplication. Positively regulates CEP63 centrosomal localization. Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 9606.ENSP00000355251 ZNF511 252 Zinc finger protein 511; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000355260 PPP1R14C 165 Protein phosphatase 1 regulatory subunit 14C; Inhibitor of the PP1 regulatory subunit PPP1CA 9606.ENSP00000355261 SMG5 1016 Protein SMG5; Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity 9606.ENSP00000355265 MT-ATP8 68 ATP synthase protein 8; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subuni [...] 9606.ENSP00000355279 CNOT7 285 CCR4-NOT transcription complex subunit 7; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT8. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translationa [...] 9606.ENSP00000355299 TSEN15 171 tRNA-splicing endonuclease subunit Sen15; Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA bo [...] 9606.ENSP00000355302 KRTAP1-5 174 Keratin-associated protein 1-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 1 family 9606.ENSP00000355304 MOK 419 MAPK/MAK/MRK overlapping kinase; Able to phosphorylate several exogenous substrates and to undergo autophosphorylation. Negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily 9606.ENSP00000355306 C1orf174 243 UPF0688 protein C1orf174; Chromosome 1 open reading frame 174; Belongs to the UPF0688 family 9606.ENSP00000355308 PTPLA 288 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1; Isoform 1: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes a [...] 9606.ENSP00000355315 RPL39 51 Ribosomal protein L39; Belongs to the eukaryotic ribosomal protein eL39 family 9606.ENSP00000355316 GRM3 879 Metabotropic glutamate receptor 3; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity; Glutamate metabotropic receptors 9606.ENSP00000355319 CIPC 399 CLOCK-interacting pacemaker; Transcriptional repressor which may act as a negative- feedback regulator of CLOCK-ARNTL/BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate ARNTL/BMAL1- dependent phosphorylation of CLOCK. However, the physiogical relevance of these observations is unsure, since experiments in an animal model showed that CIPC is not critially required for basic circadian clock 9606.ENSP00000355325 PSMB5 263 Proteasome subunit beta type-5; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing prot [...] 9606.ENSP00000355330 TGM2 687 Protein-glutamine gamma-glutamyltransferase 2; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins; Transglutaminases 9606.ENSP00000355340 APOBEC3C 190 DNA dC->dU-editing enzyme APOBEC-3C; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamina [...] 9606.ENSP00000355354 SOX15 233 Protein SOX-15; Binds to the 5'-AACAAT-3' sequence; SRY-boxes 9606.ENSP00000355361 CD47 323 Leukocyte surface antigen CD47; Has a role in both cell adhesion by acting as an adhesion receptor for THBS1 on platelets, and in the modulation of integrins. Plays an important role in memory formation and synaptic plasticity in the hippocampus (By similarity). Receptor for SIRPA, binding to which prevents maturation of immature dendritic cells and inhibits cytokine production by mature dendritic cells. Interaction with SIRPG mediates cell-cell adhesion, enhances superantigen-dependent T-cell-mediated proliferation and costimulates T-cell activation. May play a role in membrane transp [...] 9606.ENSP00000355370 CNTF 200 Ciliary neurotrophic factor; CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy; Interleukin 6 type cytokine family 9606.ENSP00000355374 OSGIN1 477 Oxidative stress-induced growth inhibitor 1; Regulates the differentiation and proliferation of normal cells through the regulation of cell death; Belongs to the OKL38 family 9606.ENSP00000355377 AKR7A3 331 Aflatoxin B1 aldehyde reductase member 3; Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen; Aldo-keto reductases 9606.ENSP00000355384 SLC26A11 606 Sodium-independent sulfate anion transporter; Exhibits sodium-independent sulfate anion transporter activity that may cooperate with SLC26A2 to mediate DIDS-sensitive sulfate uptake into high endothelial venules endothelial cells (HEVEC); Solute carriers 9606.ENSP00000355385 R3HDM4 268 R3H domain containing 4 9606.ENSP00000355387 SCAMP5 235 Secretory carrier-associated membrane protein 5; Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway; Secretory carrier membrane proteins 9606.ENSP00000355388 MPHOSPH8 860 M-phase phosphoprotein 8; Heterochromatin component that specifically recognizes and binds methylated 'Lys-9' of histone H3 (H3K9me) and promotes recruitment of proteins that mediate epigenetic repression. Mediates recruitment of the HUSH complex to H3K9me3 sites: the HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. Binds H3K9me and promotes DNA methylation by recruiting DNMT3A to target CpG sites; these can [...] 9606.ENSP00000355396 LRIG2 1065 Leucine rich repeats and immunoglobulin like domains 2; I-set domain containing 9606.ENSP00000355402 ISLR2 745 Immunoglobulin superfamily containing leucine-rich repeat protein 2; Required for axon extension during neural development; Immunoglobulin like domain containing 9606.ENSP00000355421 GAGE2A 116 G antigen 2A 9606.ENSP00000355428 SH3BP5L 393 SH3 binding domain protein 5 like 9606.ENSP00000355429 OR2T5 315 Olfactory receptor 2T5; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355430 OR2T1 369 Olfactory receptor 2T1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355431 OR2T4 348 Olfactory receptor 2T4; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355432 OR2M5 312 Olfactory receptor 2M5; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355434 OR2L13 312 Olfactory receptor 2L13; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355435 OR2L2 312 Olfactory receptor 2L2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355436 OR2AK2 335 Olfactory receptor 2AK2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355437 TRIM58 486 E3 ubiquitin-protein ligase TRIM58; E3 ubiquitin ligase induced during late erythropoiesis. Directly binds and ubiquitinates the intermediate chain of the microtubule motor dynein (DYNC1LI1/DYNC1LI2), stimulating the degradation of the dynein holoprotein complex. May participate in the erythroblast enucleation process through regulation of nuclear polarization; Ring finger proteins 9606.ENSP00000355441 OR14A2 314 Olfactory receptor 14A2; Odorant receptor; Olfactory receptors, family 14 9606.ENSP00000355443 OR2C3 320 Olfactory receptor 2C3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000355459 ZNF670 389 Zinc finger protein 670; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000355465 AHCTF1 2275 Protein ELYS; Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis; Nucleoporins 9606.ENSP00000355467 SCCPDH 429 Saccharopine dehydrogenase-like oxidoreductase; Saccharopine dehydrogenase; Belongs to the saccharopine dehydrogenase family 9606.ENSP00000355470 CNST 725 Consortin; Required for targeting of connexins to the plasma membrane; Protein phosphatase 1 regulatory subunits 9606.ENSP00000355471 TFB2M 396 Dimethyladenosine transferase 2, mitochondrial; S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. Compared to TFB1M, it activates transcription of mitochondrial DNA more efficiently, while it has less methyltransferase activity; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000355480 EFCAB2 162 EF-hand calcium-binding domain-containing protein 2; EF-hand calcium binding domain 2; Cilia and flagella associated 9606.ENSP00000355492 C1orf101 951 Cation channel sperm-associated protein subunit epsilon; Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization; Belongs to the CATSPERD family 9606.ENSP00000355493 ADSS 456 Adenylosuccinate synthetase isozyme 2; Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP 9606.ENSP00000355499 SDCCAG8 713 Serologically defined colon cancer antigen 8; Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May play a role in ciliogenesis; Bardet-Biedl syndrome associated 9606.ENSP00000355500 CEP170 1584 Centrosomal protein of 170 kDa; Plays a role in microtubule organization. Required for centriole subdistal appendage assembly; Belongs to the CEP170 family 9606.ENSP00000355506 EXO1 846 Exonuclease 1; 5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch- containing DNA tracts directed by strand breaks located either 5' or 3' to the mismatch. Also exhibits endonuclease activity against 5'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. E [...] 9606.ENSP00000355510 WDR64 1081 WD repeat-containing protein 64; WD repeat domain containing 9606.ENSP00000355511 CHML 656 Rab proteins geranylgeranyltransferase component A 2; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family 9606.ENSP00000355512 OPN3 402 Opsin-3; May play a role in encephalic photoreception; Belongs to the G-protein coupled receptor 1 family. Opsin subfamily 9606.ENSP00000355517 KMO 486 Kynurenine 3-monooxygenase; Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract 9606.ENSP00000355518 FH 510 Fumarate hydratase, mitochondrial; Also acts as a tumor suppressor; Belongs to the class-II fumarase/aspartase family. Fumarase subfamily 9606.ENSP00000355523 RGS7 487 Regulator of G-protein signaling 7; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS7/GNB5 dimer enhances GNAO1 GTPase activity. May play a role in synaptic vesicle exocytosis. Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling 9606.ENSP00000355533 RYR2 4967 Ryanodine receptor 2; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development; Belongs to the ryanodine rec [...] 9606.ENSP00000355536 MTR 1265 Methionine synthase; Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity); Belongs to the vitamin-B12 dependent methionine synthase family 9606.ENSP00000355541 HEATR1 2144 HEAT repeat-containing protein 1; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre- ribosomal RNA transcription by RNA polymerase I; Belongs to the HEATR1/UTP10 family 9606.ENSP00000355551 GPR137B 399 Integral membrane protein GPR137B; G protein-coupled receptor 137B; Belongs to the GPR137 family 9606.ENSP00000355559 B3GALNT2 500 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2; Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1- 3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-3-N-acetylglucosamine-beta-4-(phos [...] 9606.ENSP00000355566 TOMM20 145 Mitochondrial import receptor subunit TOM20 homolog; Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity); Belongs to the Tom20 family 9606.ENSP00000355568 IRF2BP2 587 Interferon regulatory factor 2-binding protein 2; Acts as a transcriptional corepressor in a IRF2- dependent manner; this repression is not mediated by histone deacetylase activities. Represses the NFAT1-dependent transactivation of NFAT-responsive promoters. Acts as a coactivator of VEGFA expression in cardiac and skeletal muscle; Belongs to the IRF2BP family 9606.ENSP00000355572 COA6 125 Cytochrome c oxidase assembly factor 6 homolog; Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomp [...] 9606.ENSP00000355577 SLC35F3 490 Putative thiamine transporter SLC35F3; May be a thiamine transporter; Belongs to the SLC35F solute transporter family 9606.ENSP00000355580 KCNK1 336 Potassium channel subfamily K member 1; Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues. Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium. The homodimer has very low potassium [...] 9606.ENSP00000355583 KIAA1804 1036 Mitogen-activated protein kinase kinase kinase 21; Negative regulator of TLR4 signaling. Does not activate JNK1/MAPK8 pathway, p38/MAPK14, nor ERK2/MAPK1 pathways; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily 9606.ENSP00000355587 NTPCR 190 Cancer-related nucleoside-triphosphatase; Has nucleotide phosphatase activity towards ATP, GTP, CTP, TTP and UTP. Hydrolyzes nucleoside diphosphates with lower efficiency; Belongs to the THEP1 NTPase family 9606.ENSP00000355589 SIPA1L2 1722 Signal-induced proliferation-associated 1-like protein 2; Signal induced proliferation associated 1 like 2; PDZ domain containing 9606.ENSP00000355593 DISC1 755 Disrupted in schizophrenia 1 protein; Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, includi [...] 9606.ENSP00000355599 TSNAX 290 Translin-associated protein X; Acts in combination with TSN as an endonuclease involved in the activation of the RNA-induced silencing complex (RISC). Possible role in spermatogenesis 9606.ENSP00000355601 EGLN1 426 Egl nine homolog 1; Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is [...] 9606.ENSP00000355605 EXOC8 725 Exocyst complex component 8; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane; Belongs to the EXO84 family 9606.ENSP00000355607 GNPAT 680 Glyceronephosphate O-acyltransferase 9606.ENSP00000355609 C1orf131 293 Uncharacterized protein C1orf131; Chromosome 1 open reading frame 131 9606.ENSP00000355613 TRIM67 783 Tripartite motif-containing protein 67; Fibronectin type III domain containing; Belongs to the TRIM/RBCC family 9606.ENSP00000355614 FAM89A 184 Protein FAM89A; Family with sequence similarity 89 member A; Belongs to the FAM89 family 9606.ENSP00000355621 TTC13 860 Tetratricopeptide repeat domain containing 9606.ENSP00000355623 C1orf198 327 Uncharacterized protein C1orf198; Chromosome 1 open reading frame 198 9606.ENSP00000355627 AGT 485 Angiotensinogen; Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis; Endogenous ligands 9606.ENSP00000355629 COG2 738 Conserved oligomeric Golgi complex subunit 2; Required for normal Golgi morphology and function; Belongs to the COG2 family 9606.ENSP00000355632 GALNT2 571 Polypeptide N-acetylgalactosaminyltransferase 2; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily 9606.ENSP00000355637 ABCB10 738 ATP-binding cassette sub-family B member 10, mitochondrial; May mediate critical mitochondrial transport functions related to heme biosynthesis; Belongs to the ABC transporter superfamily. ABCB family. Mitochondrial peptide exporter (TC 3.A.1.212) subfamily 9606.ENSP00000355645 ACTA1 377 Actin, alpha skeletal muscle; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells 9606.ENSP00000355649 SPHAR 63 Protein SPHAR; S-phase response 9606.ENSP00000355651 RAB4A 218 Ras-related protein Rab-4A; Protein transport. Probably involved in vesicular traffic (By similarity); RAB, member RAS oncogene GTPases 9606.ENSP00000355652 RHOU 258 Rho-related GTP-binding protein RhoU; Acts upstream of PAK1 to regulate the actin cytoskeleton, adhesion turnover and increase cell migration. Stimulates quiescent cells to reenter the cell cycle. Has no detectable GTPase activity but its high intrinsic guanine nucleotide exchange activity suggests it is constitutively GTP- bound. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape; Belongs to the small GTPase superfamily. Rho family 9606.ENSP00000355656 HIST3H2A 130 Histone H2A type 3; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000355657 HIST3H3 136 Histone H3.1t; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000355658 TRIM17 477 E3 ubiquitin-protein ligase TRIM17; May function as a ubiquitin E3 ligase; Belongs to the TRIM/RBCC family 9606.ENSP00000355672 IBA57 356 Putative transferase CAF17, mitochondrial; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway 9606.ENSP00000355675 GJC2 439 Gap junction gamma-2 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems 9606.ENSP00000355689 GUK1 241 Guanylate kinase; Essential for recycling GMP and indirectly, cGMP 9606.ENSP00000355718 DLL1 723 Delta-like protein 1; Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner. Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain [...] 9606.ENSP00000355719 PRSS38 326 Serine protease 38 9606.ENSP00000355720 JMJD4 463 JmjC domain-containing protein 4; Jumonji domain containing 4 9606.ENSP00000355731 CDC42BPA 1719 Serine/threonine-protein kinase MRCK alpha; Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2. In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Phosphorylates: PPP1R12A, LIMK1 and LIMK2. May play a role in TFRC-mediated iron uptake. In concert with FAM89B/LRAP25 mediates the targeting [...] 9606.ENSP00000355735 ERMARD 678 Endoplasmic reticulum membrane-associated RNA degradation protein; May play a role in neuronal migration during embryonic development 9606.ENSP00000355736 TCTE3 198 Tctex1 domain-containing protein 3; May be an accessory component of axonemal dynein and cytoplasmic dynein 1. Candidate for involvement in male sterility (By similarity); Belongs to the dynein light chain Tctex-type family 9606.ENSP00000355741 ADCK3 647 Atypical kinase COQ8A, mitochondrial; Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates. Shows an unusual selectivity for binding ADP over ATP 9606.ENSP00000355747 PSEN2 448 Presenilin-2; Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins 9606.ENSP00000355751 THBS2 1172 Thrombospondin-2; Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties 9606.ENSP00000355752 C1orf95 141 Protein stum homolog; Chromosome 1 open reading frame 95 9606.ENSP00000355759 PARP1 1014 Poly [ADP-ribose] polymerase 1; Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. Mediates the poly(ADP-ribosyl)ation of APLF and CHFR. Positively regulates the transcription of MTUS1 and negatively regulates the transcription of MTUS2/TIP150. With EEF1A1 and TXK, forms a complex that acts as a T [...] 9606.ENSP00000355760 DACT2 774 Dapper homolog 2; Involved in regulation of intracellular signaling pathways during development. Negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors, such as TGFBR1. May be involved in control of the morphogenetic behavior of kidney ureteric bud cells by keeping cells epithelial and restraining their mesenchymal character. May play an inhibitory role in the re-epithelialization of skin wounds by attenuating TGF-beta signaling (By similarity); Belongs to the dapper family 9606.ENSP00000355777 ACBD3 528 Golgi resident protein GCP60; Involved in the maintenance of Golgi structure by interacting with giantin, affecting protein transport between the endoplasmic reticulum and Golgi. Involved in hormone-induced steroid biosynthesis in testicular Leydig cells (By similarity). Recruits PI4KB to the Golgi apparatus membrane; enhances the enzyme activity of PI4KB activity via its membrane recruitment thereby increasing the local concentration of the substrate in the vicinity of the kinase; A-kinase anchoring proteins 9606.ENSP00000355778 H3F3A 136 Histone H3.3; Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in [...] 9606.ENSP00000355785 LEFTY2 366 Left-right determination factor 2; Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding 9606.ENSP00000355797 TCP10L2 353 T-complex protein 10A homolog 2; T-complex 10 like 2; Belongs to the TCP10 family 9606.ENSP00000355799 GPR31 319 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor; High-affinity receptor for 12-(S)-hydroxy-5,8,10,14- eicosatetraenoic acid (12-S-HETE). 12-(S)-HETE is an arachidonic acid metabolite secreted by platelets and tumor cells, and known to induce endothelial cells retraction allowing invasive cell access to the subendothelial matrix, which is a critical step for extravasation or metastasis. Ligand-binding lead to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B; G protein-coupled receptors, Class A orphans 9606.ENSP00000355800 TMEM63A 807 CSC1-like protein 1; Acts as an osmosensitive calcium-permeable cation channel 9606.ENSP00000355809 ENAH 591 Protein enabled homolog; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity); ENAH/VASPs 9606.ENSP00000355812 FGFR1OP 399 FGFR1 oncogene partner; Required for anchoring microtubules to the centrosomes. Required for ciliation 9606.ENSP00000355827 FBXO28 368 F-box only protein 28; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation; F-boxes other 9606.ENSP00000355837 CAPN8 703 Calpain-8; Calcium-regulated non-lysosomal thiol-protease. Involved in membrane trafficking in the gastric surface mucus cells (pit cells) and may involve the membrane trafficking of mucus cells via interactions with coat protein. Proteolytically cleaves the beta- subunit of coatomer complex (By similarity); Belongs to the peptidase C2 family 9606.ENSP00000355840 CCDC185 623 Coiled-coil domain containing 185 9606.ENSP00000355865 PARK2 465 E3 ubiquitin-protein ligase parkin; Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPT5, TOMM20, USP30, ZNF746 and AIMP2. Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context. Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of misf [...] 9606.ENSP00000355866 DUSP10 482 Dual specificity protein phosphatase 10; Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. It preferably dephosphorylates p38 9606.ENSP00000355870 HLX 488 H2.0-like homeobox protein; Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity); Belongs to the H2.0 homeobox family 9606.ENSP00000355877 MARC1 337 Mitochondrial amidoxime-reducing component 1; As a component of an N-hydroxylated prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively 9606.ENSP00000355880 MARC2 335 Mitochondrial amidoxime reducing component 2; As a component of the benzamidoxime prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively 9606.ENSP00000355889 IARS2 1012 Isoleucine--tRNA ligase, mitochondrial; isoleucyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000355890 EPRS 1512 Bifunctional glutamate/proline--tRNA ligase; Catalyzes the attachment of the cognate amino acid to the corresponding tRNA in a two-step reaction: the amino acid is first activated by ATP to form a covalent intermediate with AMP and is then transferred to the acceptor end of the cognate tRNA. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript- selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the multisynthetase co [...] 9606.ENSP00000355893 SLC30A10 485 Zinc transporter 10; Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese- induced cell death. Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recy [...] 9606.ENSP00000355895 LYPLAL1 237 Lysophospholipase-like protein 1; Has depalmitoylating activity toward KCNMA1. Does not exhibit phospholipase nor triacylglycerol lipase activity, able to hydrolyze only short chain substrates due to its shallow active site 9606.ENSP00000355896 TGFB2 442 Transforming growth factor beta-2; TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth; Endogenous ligands 9606.ENSP00000355899 RRP15 282 RRP15-like protein; Ribosomal RNA processing 15 homolog 9606.ENSP00000355900 SPATA17 361 Spermatogenesis-associated protein 17; Spermatogenesis associated 17 9606.ENSP00000355902 GPATCH2 528 G patch domain-containing protein 2; Enhances the ATPase activity of DHX15 in vitro; G-patch domain containing 9606.ENSP00000355904 ESRRG 470 Estrogen-related receptor gamma; Orphan receptor that acts as transcription activator in the absence of bound ligand. Binds specifically to an estrogen response element and activates reporter genes controlled by estrogen response elements (By similarity). Induces the expression of PERM1 in the skeletal muscle; Nuclear hormone receptors 9606.ENSP00000355920 SLC22A2 555 Solute carrier family 22 member 2; Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamin, creatinine, amantadine, memantine, acriflavine, 4-[4-(dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as DX- [...] 9606.ENSP00000355922 CENPF 3114 Centromere protein F; Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cy [...] 9606.ENSP00000355923 PTPN14 1187 Tyrosine-protein phosphatase non-receptor type 14; Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell- matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial- mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor; Belongs to the protein-tyrosine phospha [...] 9606.ENSP00000355924 SMYD2 433 N-lysine methyltransferase SMYD2; Protein-lysine N-methyltransferase that methylates both histones and non-histone proteins, including p53/TP53 and RB1. Specifically methylates histone H3 'Lys-4' (H3K4me) and dimethylates histone H3 'Lys-36' (H3K36me2). Shows even higher methyltransferase activity on p53/TP53. Monomethylates 'Lys-370' of p53/TP53, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity of p53/TP53. Monomethylates RB1 at 'Lys-860' 9606.ENSP00000355925 PROX1 737 Prospero homeobox protein 1; Transcription factor involved in developmental processes such as cell fate determination, gene transcriptional regulation and progenitor cell regulation in a number of organs. Plays a critical role in embryonic development and functions as a key regulatory protein in neurogenesis and the development of the heart, eye lens, liver, pancreas and the lymphatic system. Involved in the regulation of the circadian rhythm. Represses: transcription of the retinoid-related orphan receptor RORG, transcriptional activator activity of RORA and RORG and the expression of [...] 9606.ENSP00000355927 RPS6KC1 1066 Ribosomal protein S6 kinase delta-1; May be involved in transmitting sphingosine-1 phosphate (SPP)-mediated signaling into the cell 9606.ENSP00000355929 ANGEL2 544 Angel homolog 2 9606.ENSP00000355930 SLC22A1 554 Solute carrier family 22 member 1; Translocates a broad array of organic cations with various structures and molecular weights including the model compounds 1-methyl-4-phenylpyridinium (MPP), tetraethylammonium (TEA), N-1-methylnicotinamide (NMN), 4-(4-(dimethylamino)styryl)- N-methylpyridinium (ASP), the endogenous compounds choline, guanidine, histamine, epinephrine, adrenaline, noradrenaline and dopamine, and the drugs quinine, and metformin. The transport of organic cations is inhibited by a broad array of compounds like tetramethylammonium (TMA), cocaine, lidocaine, NMDA receptor [...] 9606.ENSP00000355938 FLVCR1 555 Feline leukemia virus subgroup C receptor-related protein 1; Isoform 1: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. [...] 9606.ENSP00000355944 NSL1 281 Kinetochore-associated protein NSL1 homolog; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis 9606.ENSP00000355955 NENF 172 Neudesin; Acts as a neurotrophic factor in postnatal mature neurons enhancing neuronal survival. Promotes cell proliferation and neurogenesis in undifferentiated neural pro-genitor cells at the embryonic stage and inhibits differentiation of astrocyte. Its neurotrophic activity is exerted via MAPK1/ERK2, MAPK3/ERK1 and AKT1/AKT pathways. Neurotrophic activity is enhanced by binding to heme. Acts also as an anorexigenic neurotrophic factor that contributes to energy balance (By similarity). Plays a role in the human tumorigenesis; Belongs to the cytochrome b5 family. MAPR subfamily 9606.ENSP00000355958 DTL 730 Denticleless protein homolog; Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control, DNA damage response and translesion DNA synthesis. The DCX(DTL) complex, also named CRL4(CDT2) complex, mediates the polyubiquitination and subsequent degradation of CDT1, CDKN1A/p21(CIP1), FBXO18/FBH1, KMT5A and SDE2. CDT1 degradation in response to DNA damage is necessary to ensure proper cell cycle regulation of DNA replication. CDKN1A/p21(CIP1) degradation during S phase or following UV irradiation is essential to control replicati [...] 9606.ENSP00000355961 INTS7 962 Integrator complex subunit 7; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Plays a role in DNA damage response (DDR) signaling during the S phase. May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex; Armadillo-like helical d [...] 9606.ENSP00000355964 LPGAT1 370 Acyl-CoA:lysophosphatidylglycerol acyltransferase 1; Lysophosphatidylglycerol (LPG) specific acyltransferase that recognizes various acyl-CoAs and LPGs as substrates but demonstrates a clear preference for long chain saturated fatty acyl-CoAs and oleoyl-CoA as acyl donors. Prefers oleoyl-LPG over palmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoA as an acyl donor; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family 9606.ENSP00000355966 NEK2 445 Serine/threonine-protein kinase Nek2; Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint [...] 9606.ENSP00000355968 SLC30A1 507 Zinc transporter 1; May be involved in zinc transport out of the cell; Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily 9606.ENSP00000355969 RD3 195 Protein RD3; Retinal degeneration 3 9606.ENSP00000355979 SERTAD4 356 SERTA domain containing 4 9606.ENSP00000355986 SYT14 574 Synaptotagmin-14; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent; Belongs to the synaptotagmin family 9606.ENSP00000355988 IRF6 467 Interferon regulatory factor 6; Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity); Belongs to the IRF family 9606.ENSP00000355991 TRAF3IP3 551 TRAF3-interacting JNK-activating modulator; May function as an adapter molecule that regulates TRAF3-mediated JNK activation 9606.ENSP00000355995 HSD11B1 292 Corticosteroid 11-beta-dehydrogenase isozyme 1; Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7- ketocholesterol to 7-beta-hydroxycholesterol (By similarity); Short chain dehydrogenase/reductase superfamily 9606.ENSP00000355996 G0S2 103 G0/G1 switch protein 2; Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers 9606.ENSP00000356000 PLXNA2 1894 Plexin-A2; Coreceptor for SEMA3A and SEMA6A. Necessary for signaling by SEMA6A and class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down- stream signaling events in the cytoplasm (By similarity) 9606.ENSP00000356001 MRPL18 180 39S ribosomal protein L18, mitochondrial; Together with thiosulfate sulfurtransferase (TST), acts as a mitochondrial import factor for the cytosolic 5S rRNA. The precursor form shows RNA chaperone activity; is able to fold the 5S rRNA into an import-competent conformation that is recognized by rhodanese (TST). Both the cytoplasmic and mitochondrial forms are able to bind to the helix IV-loop D in the gamma domain of the 5S rRNA; Mitochondrial ribosomal proteins 9606.ENSP00000356015 ACAT2 397 Acetyl-CoA acetyltransferase, cytosolic; acetyl-CoA acetyltransferase 2 9606.ENSP00000356016 CR1 2489 Complement receptor type 1; Mediates cellular binding of particles and immune complexes that have activated complement; Blood group antigens 9606.ENSP00000356024 CR2 1092 Complement receptor type 2; Receptor for complement C3Dd, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU. Participates in B lymphocytes activation; CD molecules 9606.ENSP00000356030 CD55 444 Complement decay-accelerating factor; This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade. Inhibits complement activation by destabilizing and preventing the formation of C3 and [...] 9606.ENSP00000356033 TAGAP 731 T-cell activation Rho GTPase-activating protein; May function as a GTPase-activating protein and may play important roles during T-cell activation 9606.ENSP00000356037 C4BPA 597 C4b-binding protein alpha chain; Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component; Sushi domain containing 9606.ENSP00000356042 EZR 586 Ezrin; Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis; A-kinase anchoring proteins 9606.ENSP00000356047 PFKFB2 505 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2; Synthesis and degradation of fructose 2,6-bisphosphate; In the C-terminal section; belongs to the phosphoglycerate mutase family 9606.ENSP00000356056 DYNLT1 113 Dynein light chain Tctex-type 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Binds to transport cargos and is involved in apical cargo transport such as rhodopsin-bearing vesicles in polarized epithelia. May also be a accessory component of axonemal dynein; Belongs to the dynein light chain Tctex-typ [...] 9606.ENSP00000356057 TMEM181 612 Transmembrane protein 181; Mediates action of cytolethal distending toxins (CDT), which are secreted by many pathogenic bacteria. Expression level of TMEM181 is rate-limiting for intoxication 9606.ENSP00000356058 FAIM3 390 Fas apoptotic inhibitory molecule 3; May play a role in the immune system processes. Protects cells from FAS-, TNF alpha- and FADD-induced apoptosis without increasing expression of the inhibitors of apoptosis BCL2 and BCLXL. Seems to activate an inhibitory pathway that prevents CASP8 activation following FAS stimulation, rather than blocking apoptotic signals downstream. May inhibit FAS-induced apoptosis by preventing CASP8 processing through CFLAR up-regulation 9606.ENSP00000356064 TULP4 1543 Tubby-related protein 4; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the TUB family 9606.ENSP00000356065 IL20 176 Interleukin-20; Proinflammatory and angiogenic cytokine that may be involved in epidermal function and psoriasis. Angiogenic and proliferative activities are antagonized by IL10. May act through STAT3; Belongs to the IL-10 family 9606.ENSP00000356070 MAPKAPK2 400 MAP kinase-activated protein kinase 2; Stress-activated serine/threonine-protein kinase involved in cytokine production, endocytosis, reorganization of the cytoskeleton, cell migration, cell cycle control, chromatin remodeling, DNA damage response and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Phosphorylates ALOX5, CDC25B, CDC25C, CEP131, ELAVL1, HNRNPA0, HSP27/HSPB1, KRT1 [...] 9606.ENSP00000356071 SERAC1 654 Protein SERAC1; Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation- acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway; Armadillo-like helical domain containing 9606.ENSP00000356076 DYRK3 588 Dual specificity tyrosine-phosphorylation-regulated kinase 3; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Negative regulator of EPO-dependent erythropoiesis, may place an upper limit on red cell production during stress erythropoiesis. Inhibits cell death due to cytokine withdrawal in hematopoietic progenitor cells. May act by regulating CREB/CRE signaling (By similarity). Stabilizes and prevents stress granule disassembly thereby regulating mTORC1 signaling during cellular stress. During stressful conditions, DYRK3 partitions to the st [...] 9606.ENSP00000356093 C1orf186 172 Uncharacterized protein C1orf186; Chromosome 1 open reading frame 186 9606.ENSP00000356094 AVPR1B 424 Vasopressin V1b receptor; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system; Arginine vasopressin and oxytocin receptors 9606.ENSP00000356096 FAM72A 149 Protein FAM72A; May play a role in the regulation of cellular reactive oxygen species metabolism. May participate in cell growth regulation; Belongs to the FAM72 family 9606.ENSP00000356102 SLC26A9 887 Solute carrier family 26 member 9; DIDS- and thiosulfate- sensitive anion exchanger mediating chloride, sulfate and oxalate transport. Mediates chloride/bicarbonate exchange or chloride-independent bicarbonate extrusion thus assuring bicarbonate secretion. Inhibited by ammonium and thiosulfate; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family 9606.ENSP00000356104 PM20D1 502 N-fatty-acyl-amino acid synthase/hydrolase PM20D1; Bidirectional N-fatty-acyl amino acid synthase/hydrolase that regulates the production of N-fatty-acyl amino acids. These metabolites are endogenous chemical uncouplers of mitochondrial respiration. In an UCP1-independent manner, maybe through interaction with mitochondrial transporters, they promote proton leakage into the mitochondrial matrix. Thereby, this secreted protein may indirectly regulate the bodily dissipation of chemical energy as heat through thermogenic respiration 9606.ENSP00000356105 SLC41A1 513 Solute carrier family 41 member 1; Acts as a magnesium transporter that is responsive to magnesium balance; Solute carriers 9606.ENSP00000356107 RAB29 203 Ras-related protein Rab-7L1; Rab GTPase key regulator in vesicle trafficking. Essential for maintaining the integrity of the endosome-trans- Golgi network structure. Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner. Regulates neuronal process morphology in the intact central nervous system (CNS). May play a role in the formation of typhoid toxin transport intermediates during Salmonella enterica serovar Typhi (S.Typhi) epit [...] 9606.ENSP00000356110 NUCKS1 243 Nuclear casein kinase and cyclin dependent kinase substrate 1 9606.ENSP00000356113 SLC45A3 553 Solute carrier family 45 member 3; Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family 9606.ENSP00000356115 MFSD4 514 Major facilitator superfamily domain containing 4 9606.ENSP00000356121 LEMD1 181 LEM domain containing 1 9606.ENSP00000356124 KLHDC8A 350 Kelch domain containing 8A 9606.ENSP00000356125 NUAK2 628 NUAK family SNF1-like kinase 2; Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95- activated tumor cells. Able to phosphorylate 'Ser-464' of LATS1 9606.ENSP00000356130 DSTYK 929 Dual serine/threonine and tyrosine protein kinase; Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation. Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death. In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types 9606.ENSP00000356133 CLDN20 219 Claudin-20; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000356134 TFB1M 346 Dimethyladenosine transferase 1, mitochondrial; S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000356135 TMEM81 255 Transmembrane protein 81; Immunoglobulin like domain containing 9606.ENSP00000356143 LRRN2 713 Leucine rich repeat neuronal 2; I-set domain containing 9606.ENSP00000356150 MDM4 490 Protein Mdm4; Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions; Ring finger proteins 9606.ENSP00000356155 PIK3C2B 1634 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta; Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns. Does not phosphorylate PtdIns(4,5)P2. May be involved in EGF and PDGF signaling cascades; Belongs to the PI3/PI4-kinase family 9606.ENSP00000356156 PPP1R15B 713 Protein phosphatase 1 regulatory subunit 15B; Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1; Belongs to the PPP1R15 family 9606.ENSP00000356162 KISS1 138 Metastasis-suppressor KiSS-1; Metastasis suppressor protein in malignant melanomas and in some breast cancers. May regulate events downstream of cell- matrix adhesion, perhaps involving cytoskeletal reorganization. Generates a C-terminally amidated peptide, metastin which functions as the endogenous ligand of the G-protein coupled receptor GPR54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis. Kp-10 is a decapeptide derived from the primary translation product, isolated in conditioned medium of first trimester trophobl [...] 9606.ENSP00000356169 ETNK2 394 Ethanolamine kinase 2; Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity); Belongs to the choline/ethanolamine kinase family 9606.ENSP00000356172 SOX13 622 Transcription factor SOX-13; Binds to the sequence 5'-AACAAT-3'; SRY-boxes 9606.ENSP00000356191 OPTC 332 Opticin; Binds collagen fibrils; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily 9606.ENSP00000356194 RGS17 210 Regulator of G-protein signaling 17; Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signaling activities. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity) 9606.ENSP00000356198 CHIT1 466 Chitotriosidase-1; Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity; Belongs to the glycosyl hydrolase 18 family. Chitinase class II subfamily 9606.ENSP00000356202 MTRF1L 380 Peptide chain release factor 1-like, mitochondrial; Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG 9606.ENSP00000356205 ADORA1 326 Adenosine receptor A1; Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000356211 TMEM183A 376 Transmembrane protein 183A 9606.ENSP00000356213 VIP 170 VIP peptides; VIP causes vasodilation, lowers arterial blood pressure, stimulates myocardial contractility, increases glycogenolysis and relaxes the smooth muscle of trachea, stomach and gall bladder; Endogenous ligands 9606.ENSP00000356214 MYCT1 235 Myc target protein 1; May regulate certain MYC target genes, MYC seems to be a direct upstream transcriptional activator. Does not seem to significantly affect growth cell capacity. Overexpression seems to mediate many of the known phenotypic features associated with MYC, including promotion of apoptosis, alteration of morphology, enhancement of anchorage-independent growth, tumorigenic conversion, promotion of genomic instability, and inhibition of hematopoietic differentiation (By similarity) 9606.ENSP00000356218 CYB5R1 305 NADH-cytochrome b5 reductase 1; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family 9606.ENSP00000356224 SYNE1 8797 Nesprin-1; Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrososme attachment and nuclear migrati [...] 9606.ENSP00000356230 KLHL12 568 Kelch-like protein 12; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport. The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts w [...] 9606.ENSP00000356231 RABIF 123 Guanine nucleotide exchange factor MSS4; Guanine-nucleotide-releasing protein that acts on members of the SEC4/YPT1/RAB subfamily. Stimulates GDP release from both YPT1 and RAB3A, but is less active on these proteins than on the SEC4 protein. Might play a general role in vesicular transport; Belongs to the DSS4/MSS4 family 9606.ENSP00000356234 KDM5B 1544 Lysine-specific demethylase 5B; Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5. In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock [...] 9606.ENSP00000356236 SYT2 419 Synaptotagmin-2; Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes; Belongs to the synaptotagmin family 9606.ENSP00000356243 UBE2T 197 Ubiquitin-conjugating enzyme E2 T; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCL and FANCI. May contribute to ubiquitination and degradation of BRCA1. In vitro able to promote polyubiquitination using a [...] 9606.ENSP00000356247 LGR6 967 Leucine-rich repeat-containing G-protein coupled receptor 6; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. May act as [...] 9606.ENSP00000356251 GPR37L1 481 Prosaposin receptor GPR37L1; Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade; G protein-coupled receptors, Class A orphans 9606.ENSP00000356256 TIMM17A 171 Mitochondrial import inner membrane translocase subunit Tim17-A; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane 9606.ENSP00000356257 LMOD1 600 Leiomodin-1; Mediates nucleation of actin filaments; Belongs to the tropomodulin family 9606.ENSP00000356263 C6orf211 441 Protein-glutamate O-methyltransferase; O-methyltransferase that methylates glutamate residues of target proteins to form gamma-glutamyl methyl ester residues. Methylates PCNA, suggesting it is involved in the DNA damage response 9606.ENSP00000356265 NAV1 1877 Neuron navigator 1; May be involved in neuronal migration 9606.ENSP00000356272 RMND1 449 Required for meiotic nuclear division protein 1 homolog; Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome; Belongs to the RMD1/sif2 family 9606.ENSP00000356275 CSRP1 193 Cysteine and glycine-rich protein 1; Could play a role in neuronal development; LIM domain containing 9606.ENSP00000356280 PHLDA3 127 Pleckstrin homology-like domain family A member 3; p53/TP53-regulated repressor of Akt/AKT1 signaling. Represses AKT1 by preventing AKT1-binding to membrane lipids, thereby inhibiting AKT1 translocation to the cellular membrane and activation. Contributes to p53/TP53-dependent apoptosis by repressing AKT1 activity. Its direct transcription regulation by p53/TP53 may explain how p53/TP53 can negatively regulate AKT1. May act as a tumor suppressor; Belongs to the PHLDA3 family 9606.ENSP00000356297 PLEKHG1 1385 Pleckstrin homology and RhoGEF domain containing G1 9606.ENSP00000356301 TMEM9 186 Transmembrane protein 9; May be involved in intracellular transport 9606.ENSP00000356308 ULBP3 244 UL16-binding protein 3; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity 9606.ENSP00000356310 RAET1L 246 UL16-binding protein 6; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity 9606.ENSP00000356319 KIF14 1648 Kinesin-like protein KIF14; Microtubule motor protein that binds to microtubules with high affinity through each tubulin heterodimer and has an ATPase activity (By similarity). Plays a role in many processes like cell division, cytokinesis and also in cell proliferation and apoptosis. During cytokinesis, targets to central spindle and midbody through its interaction with PRC1 and CIT respectively. Regulates cell growth through regulation of cell cycle progression and cytokinesis. During cell cycle progression acts through SCF-dependent proteasomal ubiquitin-dependent protein catabolic [...] 9606.ENSP00000356320 ULBP2 246 UL16-binding protein 2; Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity; Belongs to the MHC class I family 9606.ENSP00000356329 RAET1G 334 UL-16 binding protein 5; Isoform 1: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity 9606.ENSP00000356331 NR5A2 541 Nuclear receptor subfamily 5 group A member 2; Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development; Belongs to the nuclear hormone receptor family. NR5 [...] 9606.ENSP00000356354 PCMT1 286 Protein-L-isoaspartate(D-aspartate) O-methyltransferase; Catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in peptides and proteins that result from spontaneous decomposition of normal L-aspartyl and L-asparaginyl residues. It plays a role in the repair and/or degradation of damaged proteins. Acts on EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin carboxyl-terminal hydrolase isozyme L1, phosphatidylethanolamine- binding protein 1, stathmin, beta-synuclein and alpha-synuclein; Seven-beta-strand methyltransfera [...] 9606.ENSP00000356355 NEK7 302 Serine/threonine-protein kinase Nek7; Protein kinase which plays an important role in mitotic cell cycle progression. Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis. Phosphorylates RPS6KB1 9606.ENSP00000356357 LHX9 397 LIM/homeobox protein Lhx9; Involved in gonadal development; LIM class homeoboxes 9606.ENSP00000356363 C1orf53 145 Uncharacterized protein C1orf53; Chromosome 1 open reading frame 53 9606.ENSP00000356370 CRB1 1406 Protein crumbs homolog 1; Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion; Belongs to the Crumbs protein family 9606.ENSP00000356375 ZBTB41 909 Zinc finger and BTB domain-containing protein 41; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000356379 ASPM 3477 Abnormal spindle-like microcephaly-associated protein; Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex [...] 9606.ENSP00000356381 KATNA1 491 Katanin p60 ATPase-containing subunit A1; Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal p [...] 9606.ENSP00000356382 F13B 661 Coagulation factor XIII B chain; The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin; Sushi domain containing 9606.ENSP00000356385 FHR2 270 Complement factor H-related 2; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism 9606.ENSP00000356386 CFHR4 577 Complement factor H-related protein 4; Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism 9606.ENSP00000356389 GINM1 330 Glycoprotein integral membrane 1 9606.ENSP00000356391 HFL3 270 Complement factor H-related protein 2; Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism 9606.ENSP00000356395 CFHR3 330 Complement factor H-related protein 3; Might be involved in complement regulation 9606.ENSP00000356399 CFH 1231 Complement factor H; Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway 9606.ENSP00000356404 B3GALT2 422 Beta-1,3-galactosyltransferase 2; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N- acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues 9606.ENSP00000356405 CDC73 531 Parafibromin; Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional [...] 9606.ENSP00000356410 GLRX2 165 Glutaredoxin-2, mitochondrial; Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylat [...] 9606.ENSP00000356416 TROVE2 538 60 kDa SS-A/Ro ribonucleoprotein; RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs. May stabilize some of these RNAs and protect them from degradation; Belongs to the Ro 60 kDa family 9606.ENSP00000356425 UCHL5 329 Ubiquitin carboxyl-terminal hydrolase isozyme L5; Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1 9606.ENSP00000356426 TAB2 693 TGF-beta-activated kinase 1 and MAP3K7-binding protein 2; Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of 'Lys-63'- linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at 'Thr-187'. Involved in heart development; Zinc fingers RANBP2-type 9606.ENSP00000356429 RGS1 209 Regulator of G-protein signaling 1; Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors. Inhibits B cell chemotaxis toward CXCL12 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form 9606.ENSP00000356430 RGS18 235 Regulator of G-protein signaling 18; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i) alpha-1, G(i) alpha- 2, G(i) alpha-3 and G(q) alpha; Regulators of G-protein signaling 9606.ENSP00000356432 BRINP3 766 BMP/retinoic acid-inducible neural-specific protein 3; Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Promotes pituitary gonadotrope cell proliferation, migration and invasion, when overexpressed. May play a role in cell pituitary tumor development; Belongs to the BRINP family 9606.ENSP00000356433 UST 406 Uronyl 2-sulfotransferase; Sulfotransferase that catalyzes the transfer of sulfate to the position 2 of uronyl residues. Has mainly activity toward iduronyl residues in dermatan sulfate, and weaker activity toward glucuronyl residues of chondroitin sulfate. Has no activity toward desulfated N-resulfated heparin; Sulfotransferases, membrane bound 9606.ENSP00000356436 PLA2G4A 749 Cytosolic phospholipase A2; Selectively hydrolyzes arachidonyl phospholipids in the sn-2 position releasing arachidonic acid. Together with its lysophospholipid activity, it is implicated in the initiation of the inflammatory response; C2 domain containing phospholipases 9606.ENSP00000356437 SASH1 1247 SAM and SH3 domain-containing protein 1; May have a role in a signaling pathway. Could act as a tumor suppressor; SAM and SH3 domain containing 9606.ENSP00000356438 PTGS2 604 Prostaglandin G/H synthase 2; Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis. Constitutively expressed in some tissues in physiological conditions, such as the endothelium, kidney and brain, and in pathological conditions, such as in cancer. PTGS2 is responsible for production of inflammatory prostaglandins. Up-regulation of PTGS2 is also associated with increased cell adhesion, phenotypic changes, resistance to apoptosis and tumor angiogenesis. In cancer cells, PTGS2 is a key step in the production of prostaglandin E2 (PGE2), which plays imp [...] 9606.ENSP00000356444 SAMD5 173 Sterile alpha motif domain containing 5 9606.ENSP00000356448 TPR 2363 Nucleoprotein TPR; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalization in interphase, and in the mitotic spindle checkpoint signaling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates the nuclear export of unspliced mRNA [...] 9606.ENSP00000356465 RAB32 225 Ras-related protein Rab-32; Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays an important role in the control of melanin production and melanosome biogenesis. In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity); Belongs to the smal [...] 9606.ENSP00000356468 IVNS1ABP 642 Influenza virus NS1A-binding protein; Plays a role in cell division and in the dynamic organization of the actin skeleton as a stabilizer of actin filaments by association with F-actin through Kelch repeats. Protects cells from cell death induced by actin destabilization; Protects neurons from dendritic spines and actin filaments damage induced by the actin-destabilizing cytochalasin B when overexpressed. Activates Erk signaling pathway when overexpressed in cultured cell lines (By similarity). May be a component of the cellular splicing machinery with a role in pre-mRNA splicing; may [...] 9606.ENSP00000356470 SWT1 900 Transcriptional protein SWT1; SWT1, RNA endoribonuclease homolog 9606.ENSP00000356475 SHPRH 1683 E3 ubiquitin-protein ligase SHPRH; E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to 'Lys-164' of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non-canonical poly-ubiquitin chains linked through 'Lys-63'; Belongs to the SNF2/RAD54 helicase family 9606.ENSP00000356476 TRMT1L 733 TRMT1-like protein; May play a role in motor coordination and exploratory behavior; tRNA methyltransferases 9606.ENSP00000356480 RNF2 336 E3 ubiquitin-protein ligase RING2; E3 ubiquitin-protein ligase that mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), thereby playing a central role in histone code and gene regulation. H2AK119Ub gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. May be involved in the initiation of both imprinted and random X inactivation (By similarity). Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state [...] 9606.ENSP00000356481 FAM129A 928 Protein Niban; Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity) 9606.ENSP00000356489 EPM2A 331 Laforin; Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Dephosphorylates phosphotyrosine and synthetic substrates, such as para- nitrophenylphosphat [...] 9606.ENSP00000356505 NCF2 526 Neutrophil cytosol factor 2; NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production); Tetratricopeptide repeat domain containing 9606.ENSP00000356515 UTRN 3433 Utrophin; May play a role in anchoring the cytoskeleton to the plasma membrane; Zinc fingers ZZ-type 9606.ENSP00000356518 SHCBP1L 653 Testicular spindle-associated protein SHCBP1L; Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells 9606.ENSP00000356520 DHX9 1270 ATP-dependent RNA helicase A; Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing. Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolyzing of any of the four ribo- or deoxyribo- nucleotide triphosphates (NTPs). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA [...] 9606.ENSP00000356529 RGS16 202 Regulator of G-protein signaling 16; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Plays an important role in the phototransduction cascade by regulating the lifetime and effective concentration of activated transducin alpha. May regulate extra and intracellular mitogenic signals (By similarity) 9606.ENSP00000356530 RNASEL 741 2-5A-dependent ribonuclease; Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress- response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL [...] 9606.ENSP00000356536 TEDDM1 273 Transmembrane epididymal protein 1 9606.ENSP00000356540 STX11 287 Syntaxin-11; SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network; Syntaxins 9606.ENSP00000356541 SF3B5 86 Splicing factor 3B subunit 5; Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex. SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA 9606.ENSP00000356545 CACNA1E 2313 Voltage-dependent R-type calcium channel subunit alpha-1E; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insens [...] 9606.ENSP00000356548 LTV1 475 Protein LTV1 homolog; LTV1 ribosome biogenesis factor 9606.ENSP00000356549 IER5 327 Immediate early response gene 5 protein; Plays a role as a transcription factor. Mediates positive transcriptional regulation of several chaperone genes during the heat shock response in a HSF1- dependent manner. Mediates negative transcriptional regulation of CDC25B expression. Plays a role in the dephosphorylation of the heat shock factor HSF1 and ribosomal protein S6 kinase (S6K) by the protein phosphatase PP2A. Involved in the regulation of cell proliferation and resistance to thermal stress. Involved in the cell cycle checkpoint and survival in response to ionizing radiation. Asso [...] 9606.ENSP00000356560 KIAA1614 1190 Uncharacterized protein KIAA1614; KIAA1614 9606.ENSP00000356562 XPR1 696 Xenotropic and polytropic retrovirus receptor 1; Plays a role in phosphate homeostasis. Mediates phosphate export from the cell. Binds inositol hexakisphosphate (Ins6P) and similar inositol polyphosphates, such as 5-diphospho-inositol pentakisphosphate (5- InsP7); these are important intracellular signaling molecules; Solute carriers 9606.ENSP00000356563 PEX3 373 Peroxisomal biogenesis factor 3; Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes; Belongs to the peroxin-3 family 9606.ENSP00000356567 LHX4-AS1 282 Acyl-CoA-binding domain-containing protein 6; Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0- CoA. Does not bind fatty acids 9606.ENSP00000356574 QSOX1 747 Sulfhydryl oxidase 1; Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. In fibroblasts, it may have tumor- suppressing capabilities being involved in growth regulation; Belongs to the quiescin-sulfhydryl oxidase (QSOX) family 9606.ENSP00000356575 HIVEP2 2446 Transcription factor HIVEP2; This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon- beta genes. It may act in T-cell activation; Zinc fingers C2H2-type 9606.ENSP00000356579 CEP350 3117 Centrosome-associated protein 350; Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CENPJ. Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network. Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity. Required for ciliation 9606.ENSP00000356581 GPR126 1250 Adhesion G-protein coupled receptor G6; G-protein coupled receptor which is activated by type IV collagen, a major constituent of the basement membrane (By similarity). Couples to G(i)-proteins as well as G(s)-proteins. Essential for normal differentiation of promyelinating Schwann cells and for normal myelination of axons. Regulates neural, cardiac and ear development via G-protein- and/or N-terminus-dependent signaling (By similarity). May act as a receptor for PRNP which may promote myelin homeostasis (By similarity) 9606.ENSP00000356584 TOR1AIP2 470 Torsin-1A-interacting protein 2; Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity; Belongs to the TOR1AIP family 9606.ENSP00000356587 NPHS2 383 Podocin; Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton 9606.ENSP00000356590 AXDND1 1012 Axonemal dynein light chain domain containing 1 9606.ENSP00000356591 SOAT1 550 Sterol O-acyltransferase 1; Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase 9606.ENSP00000356599 TOR3A 397 Torsin-3A; Minor histocompatibility antigens 9606.ENSP00000356602 VTA1 307 Vacuolar protein sorting-associated protein VTA1 homolog; Involved in the endosomal multivesicular bodies (MVB) pathway. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. Thought to be a cofactor of VPS4A/B, which catalyzes disassembles membrane-associated ESCRT-III assemblies. Involved in the sorting and down-regulation of EGFR (By similarity). Involv [...] 9606.ENSP00000356607 RALGPS2 583 Ras-specific guanine nucleotide-releasing factor RalGPS2; Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity); Pleckstrin homology domain containing 9606.ENSP00000356621 RASAL2 1280 Ras GTPase-activating protein nGAP; Inhibitory regulator of the Ras-cyclic AMP pathway; C2 and RasGAP domain containing 9606.ENSP00000356630 HECA 543 Headcase protein homolog; May play an important role in some human cancers. May be part of the regulatory mechanism in the development of epithelial tube networks such as the circulatory system and lungs 9606.ENSP00000356632 ABRACL 81 Costars family protein ABRACL; ABRA C-terminal like; Belongs to the costars family 9606.ENSP00000356634 PAPPA2 1791 Pappalysin-2; Metalloproteinase which specifically cleaves insulin- like growth factor binding protein (IGFBP)-5 at the '163-Ser-|- Lys-164' bond. Shows limited proteolysis toward IGFBP-3; Belongs to the peptidase M43B family 9606.ENSP00000356641 RFWD2 731 E3 ubiquitin-protein ligase RFWD2; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Involved in JUN ubiquitination and degradation. Directly involved in p53 (TP53) ubiquitination and degradation, thereby abolishing p53-dependent transcription and apoptosis. Ubiquitinates p53 independently of MDM2 or RCHY1. Probably mediates E3 ubiquitin ligase activit [...] 9606.ENSP00000356646 TNR 1358 Tenascin-R; Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibition of neurite growth. Binding to cell surface gangliosides inhibits RGD-dependent integrin-mediated cell adhesion and results in an inhibition of PTK2/FAK1 (FAK) phosphorylation and cell detachment. Binding to membrane surface sulfatides results in a oligodendrocyte adhesion and differentiation. Interaction with CNTN1 induces a repuls [...] 9606.ENSP00000356652 CACYBP 228 Calcyclin-binding protein; May be involved in calcium-dependent ubiquitination and subsequent proteasomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1) 9606.ENSP00000356658 GPR52 361 G-protein coupled receptor 52; Gs-coupled receptor activated by antipsychotics reserpine leading to an increase in intracellular cAMP and its internalization. May play a role in locomotor activity through modulation of dopamine, NMDA and ADORA2A-induced locomotor activity. These behavioral changes are accompanied by modulation of the dopamine receptor signaling pathway in striatum. Modulates HTT level via cAMP-dependent but PKA independent mechanisms throught activation of RAB39B that translocates HTT to the endoplasmic reticulum, thus avoiding proteasome degradation; G protein-coupled [...] 9606.ENSP00000356669 RC3H1 1133 Roquin-1; Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs (By similarity). Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helpe [...] 9606.ENSP00000356671 SERPINC1 464 Antithrombin-III; Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin; Serpin peptidase inhibitors 9606.ENSP00000356674 ZBTB37 503 Zinc finger and BTB domain-containing protein 37; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000356687 SLC9C2 1124 Sodium/hydrogen exchanger 11; Involved in pH regulation; Solute carriers 9606.ENSP00000356694 FASLG 281 Tumor necrosis factor ligand superfamily member 6; Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells. Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development. Initiates fratricidal/suicidal activation-induced cell death (AICD) in antigen-activated T-cells contributing to the termination of immune responses (By similarity). TNFRSF6/FAS-mediated apoptosis has also a role in the induction of peripheral tolerance (By similarity). Binds to TNFRSF6B/DcR3, a decoy receptor that blocks apopto [...] 9606.ENSP00000356696 SUCO 1405 SUN domain-containing ossification factor; Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity) 9606.ENSP00000356700 C1orf105 183 Uncharacterized protein C1orf105; Chromosome 1 open reading frame 105 9606.ENSP00000356702 PIGC 297 Phosphatidylinositol N-acetylglucosaminyltransferase subunit C; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis 9606.ENSP00000356705 DNM3 859 Dynamin-3; Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis (By similarity); Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family 9606.ENSP00000356708 OLIG3 272 Oligodendrocyte transcription factor 3; May determine the distinct specification program of class A neurons in the dorsal part of the spinal cord and suppress specification of class B neurons; Basic helix-loop-helix proteins 9606.ENSP00000356713 IFNGR1 489 Interferon gamma receptor 1; Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG). Ligand binding stimulates activation of the JAK/STAT signaling pathway; CD molecules 9606.ENSP00000356723 FMO4 558 Dimethylaniline monooxygenase [N-oxide-forming] 4; This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides 9606.ENSP00000356729 FMO3 532 Dimethylaniline monooxygenase [N-oxide-forming] 3; Involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. It N-oxygenates primary aliphatic alkylamines as well as secondary and tertiary amines. Plays an important role in the metabolism of trimethylamine (TMA), via the production of TMA N-oxide (TMAO). Is also able to perform S-oxidation when acting on sulfide compounds 9606.ENSP00000356733 MROH9 861 Maestro heat like repeat family member 9 9606.ENSP00000356737 GORAB 394 Golgin, RAB6 interacting 9606.ENSP00000356746 SCYL3 742 Protein-associating with the carboxyl-terminal domain of ezrin; May play a role in regulating cell adhesion/migration complexes in migrating cells; SCY1 like pseudokinases 9606.ENSP00000356771 F5 2224 Coagulation factor V; Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin 9606.ENSP00000356774 AHI1 1196 Jouberin; Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation; WD repeat domain containing 9606.ENSP00000356780 CCDC181 509 Coiled-coil domain-containing protein 181; Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids; Belongs to the CCDC181 family 9606.ENSP00000356782 BLZF1 400 Golgin-45; Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface 9606.ENSP00000356785 NME7 376 Nucleoside diphosphate kinase 7; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate; Cilia and flagella associated 9606.ENSP00000356790 ATP1B1 303 Sodium/potassium-transporting ATPase subunit beta-1; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane; ATPase Na+/K+ transporting subunits 9606.ENSP00000356791 DPT 201 Dermatopontin; Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity); Belongs to the dermatopontin family 9606.ENSP00000356792 XCL1 114 Lymphotactin; Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment; Chemokine ligands 9606.ENSP00000356793 XCL2 114 Cytokine SCM-1 beta; Chemotactic activity for lymphocytes but not for monocytes or neutrophils; Chemokine ligands 9606.ENSP00000356795 TBX19 448 T-box transcription factor TBX19; Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters; T-boxes 9606.ENSP00000356807 TIPRL 272 TIP41-like protein; May be a allosteric regulator of serine/threonine- protein phosphatase 2A (PP2A). Isoform 1 inhibits catalytic activity of the PP2A(D) core complex in vitro. The PP2A(C):TIPRL complex does not show phosphatase activity. Acts as negative regulator of serine/threonine-protein phosphatase 4 probably by inhibiting the formation of the active PPP4C:PPP4R2 complex; the function is proposed to implicate it in DNA damage response by promoting H2AFX phosphorylated on Ser-140 (gamma-H2AFX). May play a role in the regulation of ATM/ATR signaling pathway controlling DNA replica [...] 9606.ENSP00000356811 HBS1L 684 HBS1-like protein; HBS1 like translational GTPase; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family 9606.ENSP00000356814 DCAF6 951 DDB1- and CUL4-associated factor 6; Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex 9606.ENSP00000356820 MPC2 127 Mitochondrial pyruvate carrier 2; Mediates the uptake of pyruvate into mitochondria; Solute carriers 9606.ENSP00000356825 ADCY10 1610 Adenylate cyclase type 10; Catalyzes the formation of the signaling molecule cAMP. May function as sensor that mediates responses to changes in cellular bicarbonate and CO(2) levels. Has a critical role in mammalian spermatogenesis by producing the cAMP which regulates cAMP-responsive nuclear factors indispensable for sperm maturation in the epididymis. Induces capacitation, the maturational process that sperm undergo prior to fertilization (By similarity). Involved in ciliary beat regulation; Adenylate cyclases 9606.ENSP00000356828 RCSD1 416 CapZ-interacting protein; Stress-induced phosphorylation of CAPZIP may regulate the ability of F-actin-capping protein to remodel actin filament assembly 9606.ENSP00000356832 SGK1 526 Serine/threonine-protein kinase Sgk1; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peri [...] 9606.ENSP00000356840 POU2F1 766 POU domain, class 2, transcription factor 1; Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR (By similarity). In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes; POU class homeoboxes and pseudogenes 9606.ENSP00000356842 GPA33 319 Cell surface A33 antigen; May play a role in cell-cell recognition and signaling; IgCAM CXADR-related subfamily 9606.ENSP00000356846 MAEL 434 Protein maelstrom homolog; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP- bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic [...] 9606.ENSP00000356848 TADA1 335 Transcriptional adapter 1; Probably involved in transcriptional regulation; SAGA complex 9606.ENSP00000356849 POGK 609 Pogo transposable element derived with KRAB domain; DNA transposon derived genes 9606.ENSP00000356853 UCK2 261 Uridine-cytidine kinase 2; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4- thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)- benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5- methylcytidine, and N(4)-anisoylcytidine; Belongs to the uridine kinase family 9606.ENSP00000356857 TCF21 179 Transcription factor 21; Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types; Basic helix-loop-helix proteins 9606.ENSP00000356864 MGST3 152 Microsomal glutathione S-transferase 3; Also functions as a glutathione peroxidase; Microsomal glutathione S-transferases 9606.ENSP00000356886 C1orf110 302 Coiled-coil domain-containing protein 190; Chromosome 1 open reading frame 110 9606.ENSP00000356899 DDR2 855 Discoidin domain-containing receptor 2; Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migrat [...] 9606.ENSP00000356903 UAP1 505 UDP-N-acetylhexosamine pyrophosphorylase; Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP and GalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higher activity towards GalNAc-1-P, while isoform AGX2 has 8 times more activity towards GlcNAc-1-P 9606.ENSP00000356905 VNN1 513 Pantetheinase; Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine; Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family 9606.ENSP00000356906 SH2D1B 132 SH2 domain-containing protein 1B; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244. In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation. Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By simila [...] 9606.ENSP00000356908 TAAR2 351 Trace amine-associated receptor 2; Orphan receptor; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000356912 C1orf111 261 Spermatogenesis-associated protein 46; Play a role in spermiogenesis and fertilization 9606.ENSP00000356917 OLFML2B 751 Olfactomedin-like protein 2B; Olfactomedin like 2B 9606.ENSP00000356918 STX7 261 Syntaxin-7; May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes; Belongs to the syntaxin family 9606.ENSP00000356919 ATF6 670 Cyclic AMP-dependent transcription factor ATF-6 alpha; Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'- ATTGG-N-CCACG-3'). Binding to E [...] 9606.ENSP00000356920 DUSP12 340 Dual specificity protein phosphatase 12; Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues. Can dephosphorylate glucokinase (in vitro) (By similarity). Has phosphatase activity with the synthetic substrate 6,8-difluoro-4- methylumbelliferyl phosphate and other in vitro substrates; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000356925 FCRLB 426 Fc receptor-like B; Immunoglobulin like domain containing 9606.ENSP00000356936 FCRLA 382 Fc receptor-like A; May be implicated in B-cell differentiation and lymphomagenesis; Immunoglobulin like domain containing 9606.ENSP00000356940 MOXD1 613 Monooxygenase DBH like 1; Belongs to the copper type II ascorbate-dependent monooxygenase family 9606.ENSP00000356946 FCGR3A 290 Low affinity immunoglobulin gamma Fc region receptor III-A; Receptor for the Fc region of IgG. Binds complexed or aggregated IgG and also monomeric IgG. Mediates antibody-dependent cellular cytotoxicity (ADCC) and other antibody-dependent responses, such as phagocytosis; CD molecules 9606.ENSP00000356951 C1orf192 177 Protein Flattop; Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear 9606.ENSP00000356953 SDHC 169 Succinate dehydrogenase cytochrome b560 subunit, mitochondrial; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q); Belongs to the cytochrome b560 family 9606.ENSP00000356954 CTGF 349 Connective tissue growth factor; Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor-induced DNA synthesis; Belongs to the CCN family 9606.ENSP00000356959 NR1I3 357 Nuclear receptor subfamily 1 group I member 3; Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element; Belongs to the nuclear hormone receptor family. NR1 subfamily 9606.ENSP00000356967 TOMM40L 308 Mitochondrial import receptor subunit TOM40B; Potential channel-forming protein implicated in import of protein precursors into mitochondria; Belongs to the Tom40 family 9606.ENSP00000356969 APOA2 100 Apolipoprotein A-II; May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism; Apolipoproteins 9606.ENSP00000356972 NDUFS2 463 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000356975 ADAMTS4 837 A disintegrin and metalloproteinase with thrombospondin motifs 4; Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the '392-Glu-|-Ala-393' site; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000356978 PPOX 477 Protoporphyrinogen oxidase; Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX 9606.ENSP00000356981 USP21 565 Ubiquitin carboxyl-terminal hydrolase 21; Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at 'Lys-4', resulting in regulation of transcriptional initiation. Regulates gene expression via histone H2A deubiquitination (By similarity). Also capable of removing NEDD8 from NEDD8 conjugates but has no effect on Sentrin-1 conjugates. Deubiquitinates BAZ2A/TIP5 leading to its stabilization 9606.ENSP00000356982 UFC1 167 Ubiquitin-fold modifier-conjugating enzyme 1; E2-like enzyme which forms an intermediate with UFM1 via a thioester linkage 9606.ENSP00000356985 DEDD 318 Death effector domain-containing protein; A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity); Death effector domain containing 9606.ENSP00000356988 NIT1 327 Deaminated glutathione amidase; Catalyzes the hydrolysis of the amide bond in N-(4- oxoglutarate)-L-cysteinylglycine (deaminated glutathione), a metabolite repair reaction to dispose of the harmful deaminated glutathione. Plays a role in cell growth and apoptosis: loss of expression promotes cell growth, resistance to DNA damage stress and increased incidence to NMBA-induced tumors. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T- cells 9606.ENSP00000356989 PFDN2 154 Prefoldin subunit 2; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit beta family 9606.ENSP00000356990 KLHDC9 349 Kelch domain containing 9 9606.ENSP00000356991 PVRL4 510 Nectin-4; Seems to be involved in cell adhesion through trans- homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells 9606.ENSP00000356992 ARHGAP30 1101 Rho GTPase-activating protein 30; GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42 9606.ENSP00000357000 USF1 310 Upstream stimulatory factor 1; Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters; Basic helix-loop-helix proteins 9606.ENSP00000357005 F11R 299 Junctional adhesion molecule A; Seems to play a role in epithelial tight junction formation. Appears early in primordial forms of cell junctions and recruits PARD3. The association of the PARD6- PARD3 complex may prevent the interaction of PARD3 with JAM1, thereby preventing tight junction assembly (By similarity). Plays a role in regulating monocyte transmigration involved in integrity of epithelial barrier (By similarity). Ligand for integrin alpha- L/beta-2 involved in memory T-cell and neutrophil transmigration. Involved in platelet activation; Belongs to the immunoglobulin superfamily 9606.ENSP00000357008 ITLN2 325 Intelectin-2; May play a role in the defense system against pathogens; Fibrinogen C domain containing 9606.ENSP00000357012 CD244 370 Natural killer cell receptor 2B4; Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor. Activating functi [...] 9606.ENSP00000357022 SLAMF7 335 SLAM family member 7; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Isoform 1 mediates NK cell activation through a SH2D1A-independent extracellular signal- regulated ERK-m [...] 9606.ENSP00000357036 SLAMF6 332 SLAM family member 6; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Triggers cytolytic activity only in natural killer cells (NK) expressing high surface densities of natur [...] 9606.ENSP00000357040 VANGL2 521 Vang-like protein 2; Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity) 9606.ENSP00000357047 MED23 1368 Mediator of RNA polymerase II transcription subunit 23; Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functi [...] 9606.ENSP00000357048 COPA 1233 Coatomer subunit alpha; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also inf [...] 9606.ENSP00000357051 PEX19 299 Peroxisomal biogenesis factor 19; Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53; Belongs to the peroxin-19 family 9606.ENSP00000357052 WDR42A 597 DDB1- and CUL4-associated factor 8; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000357055 PEA15 151 Astrocytic phosphoprotein PEA-15; Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm (By similarity). Inhibits both TNFRSF6- and TNFRSF1A-mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface; Death effector domain containing 9606.ENSP00000357057 CASQ1 396 Calsequestrin-1; Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity; Protein disulfide isomerases 9606.ENSP00000357060 ATP1A4 1029 Sodium/potassium-transporting ATPase subunit alpha-4; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility; ATPase Na+/K+ transporting subunits 9606.ENSP00000357065 IGSF8 613 Immunoglobulin superfamily member 8; May play a key role in diverse functions ascribed to CD81 and CD9 such as oocytes fertilization or hepatitis C virus function. May regulate proliferation and differentiation of keratinocytes. May be a negative regulator of cell motility: suppresses T-cell mobility coordinately with CD81, associates with CD82 to suppress prostate cancer cell migration, regulates epidermoid cell reaggregation and motility on laminin-5 with CD9 and CD81 as key linkers. May also play a role on integrin- dependent morphology and motility functions. May participate in the [...] 9606.ENSP00000357067 KCNJ9 393 G protein-activated inward rectifier potassium channel 3; This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium (By similarity); Belongs to the inward rectifier-type potass [...] 9606.ENSP00000357068 KCNJ10 379 ATP-sensitive inward rectifier potassium channel 10; May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellu [...] 9606.ENSP00000357069 PIGM 423 GPI mannosyltransferase 1; Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly; Belongs to the PIGM family 9606.ENSP00000357072 SLAMF9 289 SLAM family member 9; May play a role in the immune response; V-set domain containing 9606.ENSP00000357073 IGSF9 1179 Protein turtle homolog A; Functions in dendrite outgrowth and synapse maturation; Belongs to the immunoglobulin superfamily. Turtle family 9606.ENSP00000357076 TAGLN2 220 Transgelin-2; Transgelin 2 9606.ENSP00000357079 CFAP45 551 Cilia and flagella associated protein 45; Belongs to the CFAP45 family 9606.ENSP00000357080 VSIG8 414 V-set and immunoglobulin domain containing 8; IgCAM CXADR-related subfamily 9606.ENSP00000357082 C1orf204 235 Putative uncharacterized protein SNHG28; Chromosome 1 open reading frame 204 9606.ENSP00000357086 FCRL6 434 Fc receptor-like protein 6; Acts as a MHC class II receptor. When stimulated on its own, does not play a role in cytokine production or the release of cytotoxic granules by NK cells and cytotoxic CD8(+) T cells. Does not act as an Fc receptor; Immunoglobulin like domain containing 9606.ENSP00000357087 DUSP23 150 Dual specificity protein phosphatase 23; Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14); Atypical dual specificity phosphatases 9606.ENSP00000357097 FCER1A 257 High affinity immunoglobulin epsilon receptor subunit alpha; Binds to the Fc region of immunoglobulins epsilon. High affinity receptor. Responsible for initiating the allergic response. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. The same receptor also induces the secretion of important lymphokines; Immunoglobulin like domain containing 9606.ENSP00000357103 ACKR1 338 Atypical chemokine receptor 1; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Has a promiscuous chemokine-binding profile, interacting with inflammatory chemokines of both the CXC and the CC subfamilies but not with homeostatic chemokines. Acts as a receptor for [...] 9606.ENSP00000357106 CADM3 432 Cell adhesion molecule 3; Involved in the cell-cell adhesion. Has both calcium- independent homophilic cell-cell adhesion activity and calcium- independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity); C2-set domain containing 9606.ENSP00000357112 AIM2 343 Interferon-inducible protein AIM2; Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppr [...] 9606.ENSP00000357113 IFI16 729 Gamma-interferon-inducible protein 16; Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA bi [...] 9606.ENSP00000357122 PYHIN1 492 Pyrin and HIN domain-containing protein 1; Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells; Pyrin and HIN domain family 9606.ENSP00000357123 MNDA 407 Myeloid cell nuclear differentiation antigen; May act as a transcriptional activator/repressor in the myeloid lineage. Plays a role in the granulocyte/monocyte cell- specific response to interferon. Stimulates the DNA binding of the transcriptional repressor protein YY1; Pyrin and HIN domain family 9606.ENSP00000357125 TMEM244 128 Transmembrane protein 244 9606.ENSP00000357126 OR6K6 343 Olfactory receptor 6K6; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000357127 OR6K3 315 Olfactory receptor 6K3; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000357129 SPTA1 2419 Spectrin alpha chain, erythrocytic 1; Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane; EF-hand domain containing 9606.ENSP00000357131 ARHGAP18 663 Rho GTPase-activating protein 18; Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state. Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1. Regulates cell shape, spreading, and migration 9606.ENSP00000357132 OR10X1 326 Olfactory receptor 10X1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000357134 OR10R2 335 Olfactory receptor 10R2; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000357149 CD1E 388 T-cell surface glycoprotein CD1e, membrane-associated; T-cell surface glycoprotein CD1e, soluble binds diacetylated lipids, including phosphatidyl inositides and diacylated sulfoglycolipids, and is required for the presentation of glycolipid antigens on the cell surface. The membrane- associated form is not active; C1-set domain containing 9606.ENSP00000357150 CD1B 333 T-cell surface glycoprotein CD1b; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells; C1-set domain containing 9606.ENSP00000357152 CD1C 333 T-cell surface glycoprotein CD1c; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells; C1-set domain containing 9606.ENSP00000357153 CD1D 335 Antigen-presenting glycoprotein CD1d; Antigen-presenting protein that binds self and non-self glycolipids and presents them to T-cell receptors on natural killer T-cells; C1-set domain containing 9606.ENSP00000357156 CD5L 347 CD5 antigen-like; Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflammed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis. Able to inhibit lipid droplet size in adipocytes. Following incorporation into mature adipocytes via CD36-mediated endocytosis, associates with cytosolic FASN, inhibiting fatty acid synthase activity and leading to lipolysis, the degradation of triacylglycerols into glycerol and free fatty acids (FFA). CD5L-induced lipolysis occurs with progression o [...] 9606.ENSP00000357158 FCRL1 429 Fc receptor-like protein 1; May function as an activating coreceptor in B-cells. May function in B-cells activation and differentiation; CD molecules 9606.ENSP00000357167 FCRL3 734 Fc receptor-like protein 3; Promotes TLR9-induced B-cell proliferation, activation and survival but inhibits antibody production and suppresses plasma cell differentiation. Enhances activation of NF-kappa-B and MAPK signaling pathways in TLR9 stimulated B-cells. Has inhibitory potentional on B-cell receptor (BCR)-mediated signaling, possibly through association with SH2 domain-containing phosphatases. Inhibits cell tyrosine phosphorylation, calcium mobilization and activation-induced cell death induced through BCR signaling. Regulatory T-cells expressing FCRL3 exhibit a memory phenotyp [...] 9606.ENSP00000357175 ETV3 512 ETS translocation variant 3; Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity; ETS transcription factor family 9606.ENSP00000357177 ARHGEF11 1562 Rho guanine nucleotide exchange factor 11; May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. Involved in neurotrophin-induced neurite outgrowth; PDZ domain containing 9606.ENSP00000357178 INSRR 1297 Insulin receptor-related protein; Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB 9606.ENSP00000357189 HDGF 256 Hepatoma-derived growth factor; Heparin-binding protein, with mitogenic activity for fibroblasts. Acts as a transcriptional repressor; Heparin binding growth factor family 9606.ENSP00000357196 PTPRK 1446 Receptor-type tyrosine-protein phosphatase kappa; Regulation of processes involving cell contact and adhesion such as growth control, tumor invasion, and metastasis. Negative regulator of EGFR signaling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa; Fibronectin type III domain containing 9606.ENSP00000357199 RRNAD1 475 Protein RRNAD1; Ribosomal RNA adenine dimethylase domain containing 1; Belongs to the RRNAD1 family 9606.ENSP00000357206 NES 1621 Nestin; Required for brain and eye development. Promotes the disassembly of phosphorylated vimentin intermediate filaments (IF) during mitosis and may play a role in the trafficking and distribution of IF proteins and other cellular factors to daughter cells during progenitor cell division. Required for survival, renewal and mitogen-stimulated proliferation of neural progenitor cells (By similarity) 9606.ENSP00000357218 APOA1BP 288 NAD(P)H-hydrate epimerase; Catalyzes the epimerization of the S- and R-forms of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. This is a prerequisite for the S- specific NAD(P)H-hydrate dehydratase to allow the repair of both epimers of NAD(P)HX; Belongs to the NnrE/AIBP family 9606.ENSP00000357219 TTC24 582 Tetratricopeptide repeat domain containing 9606.ENSP00000357226 C1orf61 156 Protein CROC-4; May play a role in FOS signaling pathways involved in development and remodeling of neurons. Promotes transcription of the FOS promoter 9606.ENSP00000357231 THEMIS 641 Protein THEMIS; Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk; Belongs to the themis family 9606.ENSP00000357238 TSACC 125 TSSK6-activating co-chaperone protein; Co-chaperone that facilitates HSP-mediated activation of TSSK6; Belongs to the TSACC family 9606.ENSP00000357255 BGLAP 100 Osteocalcin; Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium; Gla domain containing 9606.ENSP00000357256 PMF1 207 Polyamine-modulated factor 1; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT 9606.ENSP00000357259 PMF1-BGLAP 220 Polyamine-modulated factor 1; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT 9606.ENSP00000357268 SEMA4A 761 Semaphorin-4A; Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling. Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity. Promotes phosphorylation of TIMD2. Inhibits angiogenesis. Promotes axon growth cone collapse. Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity); Semaphorins 9606.ENSP00000357283 LMNA 664 Prelamin-A/C; Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. A [...] 9606.ENSP00000357288 LAMTOR2 125 Ragulator complex protein LAMTOR2; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP ki [...] 9606.ENSP00000357292 UBQLN4 601 Ubiquilin-4; Plays a role in the regulation of protein degradation via the ubiquitin-proteasome system (UPS). Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (Ref. 6). Plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (By similarity). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery. Mediates the association of UBQLN1 with autophagosomes and the [...] 9606.ENSP00000357297 RNF146 359 E3 ubiquitin-protein ligase RNF146; E3 ubiquitin-protein ligase that specifically binds poly-ADP-ribosylated (PARsylated) proteins and mediates their ubiquitination and subsequent degradation. May regulate many important biological processes, such as cell survival and DNA damage response. Acts as an activator of the Wnt signaling pathway by mediating the ubiquitination of PARsylated AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex. Acts in cooperation with tankyrase proteins (TNKS and TNKS2), which mediate PARsylation of target proteins AXIN1, AXIN2, BLZF1, CAS [...] 9606.ENSP00000357301 RXFP4 374 Relaxin-3 receptor 2; High affinity receptor for INSL5. Also acts as receptor for RLN3/relaxin-3, as well as bradykinin and kallidin. Binding of the ligand inhibit cAMP accumulation; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000357304 KIAA0907 614 Protein BLOM7; RNA-binding protein involved in pre-mRNA splicing. Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome. Involved in regulating splice site selection. Binds preferentially RNA with A/C rich sequences and poly-C stretches; Belongs to the BLOM7 family 9606.ENSP00000357305 RIT1 236 GTP-binding protein Rit1; Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF- dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation; Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000357307 SYT11 431 Synaptotagmin-11; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis; Belongs to the synaptotagmin family 9606.ENSP00000357308 CENPW 103 Constitutive centromere associated network 9606.ENSP00000357315 GON4L 2241 GON-4-like protein; Has transcriptional repressor activity, probably as part of a complex with YY1, SIN3A AND HDAC1. Required for B cell lymphopoiesis; Myb/SANT domain containing 9606.ENSP00000357320 DAP3 398 28S ribosomal protein S29, mitochondrial; Involved in mediating interferon-gamma-induced cell death; Belongs to the mitochondrion-specific ribosomal protein mS29 family 9606.ENSP00000357323 YY1AP1 888 YY1-associated protein 1; Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication. Enhances transcription activation by YY1. Plays a role in cell cycle regulation 9606.ENSP00000357336 RUSC1 902 RUN and SH3 domain-containing protein 1; Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation of NGF- dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway 9606.ENSP00000357342 HCN3 774 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3; Hyperpolarization-activated potassium channel. May also facilitate the permeation of sodium ions; Cyclic nucleotide gated channels 9606.ENSP00000357345 CLK2 499 Dual specificity protein kinase CLK2; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Acts as a suppressor of hepatic gluconeogenesis and glucose output by repressing PPARGC1A transcriptional activity on gluconeogenic genes via its phosphorylation. Phosphory [...] 9606.ENSP00000357348 HEY2 337 Hairy/enhancer-of-split related with YRPW motif protein 2; Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'- CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6; Belongs to the HEY family 9606.ENSP00000357360 MTX1 466 Metaxin-1; Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity) 9606.ENSP00000357362 THBS3 956 Thrombospondin-3; Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen 9606.ENSP00000357384 DPM3 122 Dolichol-phosphate mannosyltransferase subunit 3; Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER 9606.ENSP00000357389 SLC50A1 221 Sugar transporter SWEET1; Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1; Solute carriers 9606.ENSP00000357392 EFNA1 205 Ephrin-A1; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration a [...] 9606.ENSP00000357393 EFNA3 238 Ephrin-A3; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity) 9606.ENSP00000357402 NKAIN2 208 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2; Sodium/potassium transporting ATPase interacting 2 9606.ENSP00000357409 DCST2 773 DC-STAMP domain containing 2 9606.ENSP00000357425 SMPDL3A 453 Acid sphingomyelinase-like phosphodiesterase 3a; Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP. Has in vitro activity with p-nitrophenyl-TMP. Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates. Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine. Does not have sphingomyelin phosphodiesterase activity; Belongs to the acid sphingomyelinase family 9606.ENSP00000357429 FABP7 132 Fatty acid-binding protein, brain; B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers (By similarity); Fatty acid binding protein family 9606.ENSP00000357440 HSF2 536 Heat shock factor protein 2; DNA-binding protein that specifically binds heat shock promoter elements (HSE) and activates transcription. In higher eukaryotes, HSF is unable to bind to the HSE unless the cells are heat shocked 9606.ENSP00000357442 PYGO2 406 Pygopus homolog 2; Involved in signal transduction through the Wnt pathway; PHD finger proteins 9606.ENSP00000357448 PBXIP1 731 Pre-B-cell leukemia transcription factor-interacting protein 1; Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling 9606.ENSP00000357452 PMVK 192 Phosphomevalonate kinase 9606.ENSP00000357453 MAN1A1 653 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA; Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2) 9606.ENSP00000357459 ADAR 1226 Double-stranded RNA-specific adenosine deaminase; Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structur [...] 9606.ENSP00000357461 CHRNB2 502 Neuronal acetylcholine receptor subunit beta-2; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions; Cholinergic receptors nicotinic subunits 9606.ENSP00000357465 TDRD10 366 Tudor domain-containing protein 10; RNA binding motif containing 9606.ENSP00000357470 IL6R 468 Interleukin-6 receptor subunit alpha; Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal. Signal activation necessitate an association with IL6ST. Activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis; CD molecules 9606.ENSP00000357474 CEP85L 808 Centrosomal protein 85 like; Belongs to the CEP85 family 9606.ENSP00000357475 ATP8B2 1223 Phospholipid-transporting ATPase ID; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable); Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily 9606.ENSP00000357480 NUS1 293 Dehydrodolichyl diphosphate synthase complex subunit NUS1; With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Adds multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholestero [...] 9606.ENSP00000357484 GOPC 462 Golgi-associated PDZ and coiled-coil motif-containing protein; Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes; PDZ domain containing 9606.ENSP00000357494 ROS1 2347 Proto-oncogene tyrosine-protein kinase ROS; Orphan receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. May activate several downstream signaling pathways related to cell differentiation, proliferation, growth and survival including the PI3 kinase-mTOR signaling pathway. Mediates the phosphorylation of PTPN11, an activator of this pathway. May also phosphorylate and activate the transcription factor STAT3 to control anchorage-independent cell growth. Mediates the phosphorylation and the activation [...] 9606.ENSP00000357507 C1orf43 253 Uncharacterized protein C1orf43; Chromosome 1 open reading frame 43 9606.ENSP00000357511 C1orf189 101 Uncharacterized protein C1orf189; Chromosome 1 open reading frame 189 9606.ENSP00000357516 TPM3 285 Tropomyosin alpha-3 chain; Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments; Belongs to the tropomyosin family 9606.ENSP00000357535 ECHS1 290 Enoyl-CoA hydratase, mitochondrial; Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate 9606.ENSP00000357545 FAM162B 162 Protein FAM162B; Family with sequence similarity 162 member B 9606.ENSP00000357547 NUP210L 1888 Nuclear pore membrane glycoprotein 210-like; Nucleoporin 210 like; Belongs to the NUP210 family 9606.ENSP00000357552 KPNA5 539 Importin subunit alpha-6; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta ar [...] 9606.ENSP00000357555 RPS27 84 40S ribosomal protein S27; Component of the small ribosomal subunit. Required for proper rRNA processing and maturation of 18S rRNAs; Belongs to the eukaryotic ribosomal protein eS27 family 9606.ENSP00000357556 VENTX 258 Homeobox protein VENTX; May be involved in ventralization; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000357564 RAB13 203 Ras-related protein Rab-13; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab is involved in endocytic recycling and regulates the transport to the plasma membrane of transmembrane proteins like the tight junction protein OCLN/occludin. Thereby, it regu [...] 9606.ENSP00000357565 ZUFSP 578 Zinc finger with UFM1-specific peptidase domain 9606.ENSP00000357575 CFAP46 2715 Cilia- and flagella-associated protein 46; As part of the central apparatus of the cilium axoneme plays a role in cilium movement; Cilia and flagella associated 9606.ENSP00000357581 NKX6-2 277 Homeobox protein Nkx-6.2; Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5'- (A/T)TTAATGA-3'. In oligodendrocytes, binds to MBP and PLP1 promoter regions; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000357583 INPP5A 412 Type I inositol 1,4,5-trisphosphate 5-phosphatase; Major isoenzyme hydrolyzing the calcium-mobilizing second messenger Ins(1,4,5)P3, this is a signal-terminating reaction; Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type I family 9606.ENSP00000357588 FAM26E 309 Calcium homeostasis modulator protein 5; Pore-forming subunit of a voltage-gated ion channel 9606.ENSP00000357591 TRAPPC3L 181 Trafficking protein particle complex subunit 3-like protein; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. BET3 subfamily 9606.ENSP00000357594 FAM26F 315 Calcium homeostasis modulator protein 6; Pore-forming subunit of a voltage-gated ion channel 9606.ENSP00000357596 CREB3L4 395 Cyclic AMP-responsive element-binding protein 3-like protein 4; Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5'-T[GT]ACGT[GA][GT]-3' and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements (By similarity); Basic leucine zipper proteins 9606.ENSP00000357597 TSPYL1 437 Testis-specific Y-encoded-like protein 1; TSPY like 1 9606.ENSP00000357603 LRRC27 530 Leucine-rich repeat-containing protein 27; Leucine rich repeat containing 27 9606.ENSP00000357612 SLC39A1 324 Zinc transporter ZIP1; Mediates zinc uptake. May function as a major endogenous zinc uptake transporter in many cells of the body. Responsible for the rapid uptake and accumulation of physiologically effective zinc in prostate cells; Solute carriers 9606.ENSP00000357622 CRTC2 693 CREB-regulated transcription coactivator 2; Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates gluconeogenesis as a component of the LKB1/AMPK/TORC2 signaling pathway. Regulates the expression of specific genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mit [...] 9606.ENSP00000357625 BNIP3 194 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3; Apoptosis-inducing protein that can overcome BCL2 suppression. May play a role in repartitioning calcium between the two major intracellular calcium stores in association with BCL2. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer [...] 9606.ENSP00000357631 TCERG1L 586 Transcription elongation regulator 1 like 9606.ENSP00000357633 GLRX3 335 Glutaredoxin-3; Together with BOLA2, acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins. Acts as a critical negative regulator of cardiac hypertrophy and a positive inotropic regulator (By similarity). Required for hemoglobin maturation. Does not possess any thyoredoxin activity since it lacks the conserved motif that is essential for catalytic activity; Glutaredoxin domain containing 9606.ENSP00000357637 EBF3 551 Transcription factor COE3; Transcriptional activator. Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity); Belongs to the COE family 9606.ENSP00000357643 MKI67 3256 Proliferation marker protein Ki-67; Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly. Associates with the surface of the mitotic chromosome, the perichromosomal layer, and covers a substantial fraction of the chromosome surface. Prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility. Binds DNA, with a preference for s [...] 9606.ENSP00000357644 GATAD2B 593 Transcriptional repressor p66-beta; Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development; GATA zinc finger domain containing 9606.ENSP00000357645 FAM229B 80 Protein FAM229B; Family with sequence similarity 229 member B; Belongs to the FAM229 family 9606.ENSP00000357651 TUBE1 475 Tubulin epsilon 1; Tubulins 9606.ENSP00000357655 WISP3 372 WNT1-inducible-signaling pathway protein 3; Appears to be required for normal postnatal skeletal growth and cartilage homeostasis; CYR61/CTGF/NOV matricellular proteins 9606.ENSP00000357660 CLRN3 226 Clarin-3; Clarin 3; Belongs to the clarin family 9606.ENSP00000357668 ADAM12 909 Disintegrin and metalloproteinase domain-containing protein 12; Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity); ADAM metallopeptidase domain containing 9606.ENSP00000357669 NPR1 1061 Atrial natriuretic peptide receptor 1; Receptor for the atrial natriuretic peptide NPPA/ANP and the brain natriuretic peptide NPPB/BNP which are potent vasoactive hormones playing a key role in cardiovascular homeostasis. Has guanylate cyclase activity upon binding of the ligand 9606.ENSP00000357674 SNAPIN 136 SNARE-associated protein Snapin; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling. May modulate [...] 9606.ENSP00000357679 CHTOP 249 Chromatin target of PRMT1 protein; Plays an important role in the ligand-dependent activation of estrogen receptor target genes. May play a role in the silencing of fetal globin genes. Recruits the 5FMC complex to ZNF148, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (By similarity). Plays an important role in the tumorigenicity of glioblastoma cells. Binds to 5- hydroxymethylcytosine (5hmC) and associates with the methylosome complex containing PRMT1, PRMT5, MEP50 and ERH. The CHTOP- methylosome complex associated with 5hmC is recruited to se [...] 9606.ENSP00000357682 FANK1 345 Fibronectin type 3 and ankyrin repeat domains protein 1; Through the activation of JUN and AP-1-mediated transcription, may regulate apoptosis; Ankyrin repeat domain containing 9606.ENSP00000357688 S100A13 98 Protein S100-A13; Plays a role in the export of proteins that lack a signal peptide and are secreted by an alternative pathway. Binds two calcium ions per subunit. Binds one copper ion. Binding of one copper ion does not interfere with calcium binding. Required for the copper-dependent stress-induced export of IL1A and FGF1. The calcium-free protein binds to lipid vesicles containing phosphatidylserine, but not to vesicles containing phosphatidylcholine (By similarity) 9606.ENSP00000357691 S100A14 104 Protein S100-A14; Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium; S100 calcium binding proteins 9606.ENSP00000357693 S100A16 103 Protein S100-A16; Calcium-binding protein. Binds one calcium ion per monomer. Can promote differentiation of adipocytes (in vitro) (By similarity). Overexpression in preadipocytes increases their proliferation, enhances adipogenesis and reduces insulin-stimulated glucose uptake (By similarity); Belongs to the S-100 family 9606.ENSP00000357697 S100A2 97 Protein S100-A2; May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes. May also play a role in suppressing tumor cell growth; EF-hand domain containing 9606.ENSP00000357702 S100A3 101 Protein S100-A3; Binds both calcium and zinc. May be involved in calcium- dependent cuticle cell differentiation, hair shaft and hair cuticular barrier formation; S100 calcium binding proteins 9606.ENSP00000357705 S100A4 101 S100 calcium binding protein A4; EF-hand domain containing 9606.ENSP00000357707 S100A5 92 Protein S100-A5; Binds calcium, zinc and copper. One subunit can simultaneously bind 2 calcium ions or 2 copper ions plus 1 zinc ion. Calcium and copper ions compete for the same binding sites; EF-hand domain containing 9606.ENSP00000357709 S100A6 90 Protein S100-A6; May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes such as the reorganization of the actin cytoskeleton and in cell motility. Binds 2 calcium ions. Calcium binding is cooperative; EF-hand domain containing 9606.ENSP00000357712 S100A7 101 S100 calcium binding protein A7; EF-hand domain containing 9606.ENSP00000357714 S100A7L2 112 S100 calcium binding protein A7 like 2; EF-hand domain containing 9606.ENSP00000357718 S100A7A 101 Protein S100-A7A; May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases; EF-hand domain containing 9606.ENSP00000357722 S100A8 93 Protein S100-A8; S100A8 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis and adhesion. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH-oxidase. Activates NADPH- oxidase by facilitat [...] 9606.ENSP00000357726 S100A12 92 Protein S100-A12; S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its proinflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF-kappa-B signaling pathways leadin [...] 9606.ENSP00000357727 S100A9 114 Protein S100-A9; S100A9 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. It can induce neutrophil chemotaxis, adhesion, can increase the bactericidal activity of neutrophils by promoting phagocytosis via activation of SYK, PI3K/AKT, and ERK1/2 and can induce degranulation of neutrophils by a MAPK-dependent mechanism. Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions. The intracellular functions include: facilitating leukocyte arachidonic acid [...] 9606.ENSP00000357731 LOR 312 Loricrin; Major keratinocyte cell envelope protein; Cornified envelope precursor family 9606.ENSP00000357733 PRR9 116 Proline-rich protein 9; Proline rich 9 9606.ENSP00000357736 LELP1 98 Late cornified envelope like proline rich 1; Belongs to the cornifin (SPRR) family 9606.ENSP00000357737 SPRR2G 73 Small proline-rich protein 2G; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity); Small proline rich proteins 9606.ENSP00000357740 SPRR2E 72 Small proline-rich protein 2E; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane; Small proline rich proteins 9606.ENSP00000357744 SPRR2B 72 Small proline-rich protein 2B; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane; Small proline rich proteins 9606.ENSP00000357746 SPRR2D 72 Small proline-rich protein 2D; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane; Small proline rich proteins 9606.ENSP00000357748 BCCIP 322 BRCA2 and CDKN1A-interacting protein; During interphase, required for microtubule organizing and anchoring activities. During mitosis, required for the organization and stabilization of the spindle pole. Isoform 2/alpha is particularly important for the regulation of microtubule anchoring, microtubule stability, spindle architecture and spindle orientation, compared to isoform 1/beta. May promote cell cycle arrest by enhancing the inhibition of CDK2 activity by CDKN1A. May be required for repair of DNA damage by homologous recombination in conjunction with BRCA2. May not be involved in [...] 9606.ENSP00000357750 TRAF3IP2 565 Adapter protein CIKS; Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK 9606.ENSP00000357751 SPRR1A 89 Cornifin-A; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane; Small proline rich proteins 9606.ENSP00000357753 IVL 585 Involucrin; Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia; Belongs to the involucrin family 9606.ENSP00000357754 SMCP 116 Sperm mitochondrial-associated cysteine-rich protein; Involved in sperm motility. Its absence is associated with genetic background dependent male infertility. Infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (By similarity) 9606.ENSP00000357759 LCE1E 118 Late cornified envelope protein 1E; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000357764 C1orf68 250 Skin-specific protein 32; Chromosome 1 open reading frame 68 9606.ENSP00000357766 LCE4A 99 Late cornified envelope protein 4A; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family 9606.ENSP00000357768 LCE2A 106 Late cornified envelope protein 2A; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000357769 LCE2B 110 Late cornified envelope protein 2B; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000357772 LCE2C 110 Late cornified envelope protein 2C; Precursors of the cornified envelope of the stratum 9606.ENSP00000357773 LCE2D 110 Late cornified envelope protein 2D; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000357776 LCE3D 92 Late cornified envelope protein 3D; Precursors of the cornified envelope of the stratum corneum; Belongs to the LCE family 9606.ENSP00000357778 LCE3E 92 Late cornified envelope protein 3E; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000357779 CRCT1 99 Cysteine rich C-terminal 1 9606.ENSP00000357787 UROS 265 Uroporphyrinogen-III synthase; Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme) 9606.ENSP00000357789 FLG 4061 Filaggrin; Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis; EF-hand domain containing 9606.ENSP00000357791 HRNR 2850 Hornerin; Component of the epidermal cornified cell envelopes; Belongs to the S100-fused protein family 9606.ENSP00000357796 TCHHL1 904 S100 fused type protein family; Belongs to the S-100 family 9606.ENSP00000357798 MMP21 569 Matrix metalloproteinase-21; Plays a specialized role in the generation of left-right asymmetry during embryogenesis. May act as a negative regulator of the NOTCH-signaling pathway. Cleaves alpha-1-antitrypsin; Belongs to the peptidase M10A family 9606.ENSP00000357801 S100A10 97 Protein S100-A10; Because S100A10 induces the dimerization of ANXA2/p36, it may function as a regulator of protein phosphorylation in that the ANXA2 monomer is the preferred target (in vitro) of tyrosine- specific kinase; Belongs to the S-100 family 9606.ENSP00000357804 THEM4 240 Acyl-coenzyme A thioesterase THEM4; Has acyl-CoA thioesterase activity towards medium and long-chain (C14 to C18) fatty acyl-CoA substrates, and probably plays an role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to PubMed:11598301, inhibits AKT1 phosphorylation and activity. According to PubMed:17615157, enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane 9606.ENSP00000357807 THEM5 247 Acyl-coenzyme A thioesterase THEM5; Has acyl-CoA thioesterase activity towards long-chain (C16 and C18) fatty acyl-CoA substrates, with a preference for linoleoyl-CoA and other unsaturated long-chain fatty acid-CoA esters. Plays an important role in mitochondrial fatty acid metabolism, and in remodeling of the mitochondrial lipid cardiolipin. Required for normal mitochondrial function 9606.ENSP00000357810 LINGO4 593 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4; Leucine rich repeat and Ig domain containing 4 9606.ENSP00000357811 TEX36 186 Testis-expressed protein 36; Testis expressed 36 9606.ENSP00000357812 TDRKH 561 Tudor and KH domain-containing protein; Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for the final steps of primary piRNA biogenesis by participating in the processing of 31-37 nt intermediates into mature [...] 9606.ENSP00000357823 MRPL9 267 Mitochondrial ribosomal protein L9 9606.ENSP00000357829 METTL10 291 EEF1A lysine methyltransferase 2; Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-318' 9606.ENSP00000357835 LHPP 270 Phospholysine phosphohistidine inorganic pyrophosphate phosphatase; Phosphatase that hydrolyzes imidodiphosphate, 3- phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity); Belongs to the HAD-like hydrolase superfamily 9606.ENSP00000357836 SNX27 528 Sorting nexin-27; Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ- binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing e [...] 9606.ENSP00000357838 OAT 439 Ornithine aminotransferase, mitochondrial; Ornithine aminotransferase 9606.ENSP00000357840 KIAA1919 518 Sodium-dependent glucose transporter 1; May function as a sodium-dependent glucose transporter. Potential channels for urea in the inner medulla of kidney 9606.ENSP00000357842 TUFT1 390 Tuftelin; Involved in the mineralization and structural organization of enamel; Belongs to the tuftelin family 9606.ENSP00000357844 SLC16A10 515 Monocarboxylate transporter 10; Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity); Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family 9606.ENSP00000357858 BUB3 328 Mitotic checkpoint protein BUB3; Has a dual function in spindle-assembly checkpoint signaling and in promoting the establishment of correct kinetochore-microtubule (K-MT) attachments. Promotes the formation of stable end-on bipolar attachments. Necessary for kinetochore localization of BUB1. Regulates chromosome segregation during oocyte meiosis. The BUB1/BUB3 complex plays a role in the inhibition of anaphase-promoting complex or cyclosome (APC/C) when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. T [...] 9606.ENSP00000357863 GTF3C6 213 General transcription factor 3C polypeptide 6; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters; General transcription factors 9606.ENSP00000357869 PI4KB 828 Phosphatidylinositol 4-kinase beta; Phosphorylates phosphatidylinositol (PI) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate (PIP). May regulate Golgi disintegration/reorganization during mitosis, possibly via its phosphorylation. Involved in Golgi-to-plasma membrane trafficking (By similarity); Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily 9606.ENSP00000357873 ACADSB 432 Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial; Has greatest activity toward short branched chain acyl- CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl- CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent 9606.ENSP00000357879 PSMD4 377 26S proteasome non-ATPase regulatory subunit 4; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin- [...] 9606.ENSP00000357880 AMD1 334 S-adenosylmethionine decarboxylase proenzyme; Essential for biosynthesis of the polyamines spermidine and spermine. Promotes maintenance and self-renewal of embryonic stem cells, by maintaining spermine levels; Belongs to the eukaryotic AdoMetDC family 9606.ENSP00000357881 IKZF5 419 Zinc finger protein Pegasus; DNA-binding protein that binds to the 5'GNNTGTNG-3' core sequence. Transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000357882 PSTK 348 L-seryl-tRNA(Sec) kinase; Specifically phosphorylates seryl-tRNA(Sec) to O- phosphoseryl-tRNA(Sec), an activated intermediate for selenocysteine biosynthesis 9606.ENSP00000357883 PIP5K1A 562 Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha; Catalyzes the phosphorylation of phosphatidylinositol 4- phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organiz [...] 9606.ENSP00000357889 FAM24A 105 Protein FAM24A; Family with sequence similarity 24 member A 9606.ENSP00000357894 FAM24B 94 Protein FAM24B; Family with sequence similarity 24 member B 9606.ENSP00000357900 CUZD1 607 CUB and zona pellucida-like domain-containing protein 1; CUZD1 antiserum inhibits cell attachment and proliferation of ovarian cancer cells so may be involved in these processes. May also play a role in the uterus during late pregnancy and/or in trypsin activation in pancreatic acinar cells 9606.ENSP00000357901 SCNM1 230 Sodium channel modifier 1; Plays a role in RNA splicing, possibly contributing to the recognition of non-consensus donor sites 9606.ENSP00000357904 LYSMD1 227 LysM and putative peptidoglycan-binding domain-containing protein 1; LysM domain containing 1 9606.ENSP00000357905 DMBT1 2413 Deleted in malignant brain tumors 1 protein; May be considered as a candidate tumor suppressor gene for brain, lung, esophageal, gastric, and colorectal cancers. May play roles in mucosal defense system, cellular immune defense and epithelial differentiation. May play a role as an opsonin receptor for SFTPD and SPAR in macrophage tissues throughout the body, including epithelial cells lining the gastrointestinal tract. May play a role in liver regeneration. May be an important factor in fate decision and differentiation of transit-amplifying ductular (oval) cells within the hepatic lin [...] 9606.ENSP00000357906 TNFAIP8L2 184 Tumor necrosis factor alpha-induced protein 8-like protein 2; Acts as a negative regulator of innate and adaptive immunity by maintaining immune homeostasis. Negative regulator of Toll-like receptor and T-cell receptor function. Prevents hyperresponsiveness of the immune system and maintains immune homeostasis. Inhibits JUN/AP1 and NF-kappa-B activation. Promotes Fas-induced apoptosis (By similarity); Belongs to the TNFAIP8 family. TNFAIP8L2 subfamily 9606.ENSP00000357907 CDK19 502 Cyclin dependent kinase 19; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily 9606.ENSP00000357909 SEMA6C 962 Semaphorin-6C; Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections; Belongs to the semaphorin family 9606.ENSP00000357914 GABPB2 448 GA-binding protein subunit beta-2; May function as transcription factor capable of interacting with purine rich repeats (GA repeats); Ankyrin repeat domain containing 9606.ENSP00000357915 SLC22A16 577 Solute carrier family 22 member 16; High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family 9606.ENSP00000357917 MLLT11 90 Protein AF1q; Cofactor for the transcription factor TCF7. Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate; Belongs to the MLLT11 family 9606.ENSP00000357920 DDO 369 D-aspartate oxidase; Selectively catalyzes the oxidative deamination of D- aspartate and its N-methylated derivative, N-methyl D-aspartate 9606.ENSP00000357922 C1orf56 341 Protein MENT; Involved in control of cellular proliferation. Onconcogenic modifier contributing to the tumor suppressor function of DNMT3B 9606.ENSP00000357927 BNIPL 357 Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein; May be a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death; BCH domain containing 9606.ENSP00000357928 CDC40 579 Pre-mRNA-processing factor 17; Associates with the spliceosome late in the splicing pathway and may function in the second step of pre-mRNA splicing; Spliceosomal Bact complex 9606.ENSP00000357943 ANXA9 345 Annexin A9; Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes; Belongs to the annexin family 9606.ENSP00000357973 LACE1 481 AFG1-like ATPase; Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain. Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress 9606.ENSP00000357979 NR2E1 422 Nuclear receptor subfamily 2 group E member 1; Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half- site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be involved [...] 9606.ENSP00000357980 HTRA1 480 Serine protease HTRA1; Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signa [...] 9606.ENSP00000357981 CTSS 331 Cathepsin S; Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules. The bond- specificity of this proteinase is in part similar to the specificities of cathepsin L and cathepsin N; Cathepsins 9606.ENSP00000357986 PLEKHA1 404 Pleckstrin homology domain-containing family A member 1; Binds specifically to phosphatidylinositol 3,4- diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane; Pleckstrin homology domain containing 9606.ENSP00000357998 SEC63 760 Translocation protein SEC63 homolog; Required for integral membrane and secreted preprotein translocation across the endoplasmic reticulum membrane; DNAJ heat shock proteins 9606.ENSP00000358001 TACC2 2948 Transforming acidic coiled-coil-containing protein 2; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker 9606.ENSP00000358016 SCML4 414 Sex comb on midleg-like protein 4; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development (By similarity); Sterile alpha motif domain containing 9606.ENSP00000358019 NSMCE4A 385 Non-structural maintenance of chromosomes element 4 homolog A; Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT- associated PML bodies ( [...] 9606.ENSP00000358022 MCL1 350 Induced myeloid leukemia cell differentiation protein Mcl-1; Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis; Belongs to the Bcl-2 family 9606.ENSP00000358033 PDSS2 399 Decaprenyl-diphosphate synthase subunit 2; Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10 9606.ENSP00000358035 ADAMTSL4 1097 ADAMTS-like protein 4; Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis; ADAMTS like 9606.ENSP00000358042 QRSL1 528 Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu- tRNA(Gln) 9606.ENSP00000358045 ECM1 567 Extracellular matrix protein 1; Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity 9606.ENSP00000358059 RTN4IP1 396 Reticulon-4-interacting protein 1, mitochondrial; Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury 9606.ENSP00000358060 TARS2 718 Threonine--tRNA ligase, mitochondrial; Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000358062 AIM1 1723 Beta/gamma crystallin domain-containing protein 1; May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton 9606.ENSP00000358064 RPRD2 1461 Regulation of nuclear pre-mRNA domain containing 2 9606.ENSP00000358071 SEC23IP 1000 SEC23-interacting protein; Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P); Belongs to the PA-PLA1 family 9606.ENSP00000358072 ATG5 275 Autophagy protein 5; Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is esse [...] 9606.ENSP00000358081 BAG3 575 BAG family molecular chaperone regulator 3; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70. Has anti-apoptotic activity. Plays a role in the HSF1 nucleocytoplasmic transport; BCL2 associated athanogene family 9606.ENSP00000358089 TIAL1 392 Nucleolysin TIAR; RNA-binding protein. Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis 9606.ENSP00000358092 PRDM1 825 PR domain zinc finger protein 1; Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, [...] 9606.ENSP00000358098 C1orf54 131 Uncharacterized protein C1orf54; Chromosome 1 open reading frame 54 9606.ENSP00000358099 RGS10 181 Regulator of G-protein signaling 10; Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Modulates the activity of potassium channels that are activated in response to CHRM2 signaling. Activity on GNAZ is inhibited by palmitoylation of the G-protein 9606.ENSP00000358105 APH1A 265 Gamma-secretase subunit APH-1A; Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Required for normal gamma- secretase assembly. The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable); Belongs to the APH-1 family 9606.ENSP00000358106 PREP 710 Prolyl endopeptidase; Cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long; Belongs to the peptidase S9A family 9606.ENSP00000358107 CA14 337 Carbonic anhydrase 14; Reversible hydration of carbon dioxide; Carbonic anhydrases 9606.ENSP00000358120 PLEKHO1 409 Pleckstrin homology domain-containing family O member 1; Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein kinase 2 (CK2). Appears to target ATM to the plasma membrane. Appears to also inhibit tumor cell growth by inhibiting AKT- mediated cell-survival. Also implicated in PI3K-regulated muscle differentiation, the regulation of AP-1 activity (plasma membrane bound AP-1 regulator that transloca [...] 9606.ENSP00000358126 VPS45 570 Vacuolar protein sorting-associated protein 45; May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network 9606.ENSP00000358140 EIF3A 1382 Eukaryotic translation initiation factor 3 subunit A; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termi [...] 9606.ENSP00000358142 SV2A 742 Synaptic vesicle glycoprotein 2A; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity) 9606.ENSP00000358147 CACUL1 369 CDK2-associated and cullin domain-containing protein 1; Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition 9606.ENSP00000358149 BOLA1 137 BolA-like protein 1; Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins (By similarity). Probably acts together with the monothiol glutaredoxin GLRX5. May protect cells against oxidative stress 9606.ENSP00000358151 HIST2H2BE 126 Histone H2B type 2-E; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000358154 HIST2H3C 136 Histone cluster 2 H3 family member c; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000358155 HIST2H2AA 130 Histone cluster 2 H2A family member a4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000358159 ASCC3 2202 Activating signal cointegrator 1 complex subunit 3; 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3- methylcytosine (3mC) within double-stranded regions. Enhances NF- kappa-B, SRF and AP1 transactivation; Belongs to the helicase family 9606.ENSP00000358160 HIST1H3H 136 Histone cluster 1 H3 family member h; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000358165 FCGR1A 374 High affinity immunoglobulin gamma Fc receptor I; High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses; Belongs to the immunoglobulin superfamily. FCGR1 family 9606.ENSP00000358183 FAM204A 233 Protein FAM204A; Family with sequence similarity 204 member A 9606.ENSP00000358207 VAX1 334 Ventral anterior homeobox 1; Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity); Belongs to the EMX homeobox family 9606.ENSP00000358210 SIM1 766 Single-minded homolog 1; Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult; Basic helix-loop-helix proteins 9606.ENSP00000358211 HSPA12A 675 Heat shock protein family A member 12A 9606.ENSP00000358212 C10orf82 154 Uncharacterized protein C10orf82; Chromosome 10 open reading frame 82 9606.ENSP00000358217 PRDM13 707 PR domain zinc finger protein 13; May be involved in transcriptional regulation; PR/SET domain family 9606.ENSP00000358223 PNLIP 465 Pancreatic lipase; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000358232 PNLIPRP3 467 Pancreatic lipase related protein 3; Lipases 9606.ENSP00000358233 GPR89B 455 Golgi pH regulator A; Voltage dependent anion channel required for acidification and functions of the Golgi apparatus that may function in counter-ion conductance; Belongs to the Golgi pH regulator (TC 1.A.38) family 9606.ENSP00000358238 GJA8 433 Gap junction alpha-8 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell 9606.ENSP00000358242 PNISR 805 Arginine/serine-rich protein PNISR; PNN interacting serine and arginine rich protein; Belongs to the splicing factor SR family 9606.ENSP00000358247 FBXL4 621 F-box and leucine rich repeat protein 4 9606.ENSP00000358251 FAM160B1 765 Protein FAM160B1; Family with sequence similarity 160 member B1; Armadillo-like helical domain containing 9606.ENSP00000358262 CHD1L 897 Chromodomain-helicase-DNA-binding protein 1-like; DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP-dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding; Belongs to the SNF2/RAD54 helicase family 9606.ENSP00000358265 KLHL32 620 Kelch-like protein 32; Kelch like family member 32; BTB domain containing 9606.ENSP00000358272 NDUFAF4 175 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion 9606.ENSP00000358283 UFL1 794 E3 UFM1-protein ligase 1; E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, a post-translational modification on lysine residues of proteins that may play a crucial role in a number of cellular processes. Mediates DDRGK1 ufmylation and may regulate the proteasomal degradation of DDRGK1 and CDK5RAP3 thereby modulating NF-kappa-B signaling. May also through TRIP4 ufmylation play a role in nuclear receptors-mediated transcription. May play a role in the unfolded protein response, mediating the ufmylation of multi [...] 9606.ENSP00000358293 CCDC186 898 Coiled-coil domain containing 186 9606.ENSP00000358301 ADRB1 477 Beta-1 adrenergic receptor; Beta-adrenergic receptors mediate the catecholamine- induced activation of adenylate cyclase through the action of G proteins. This receptor binds epinephrine and norepinephrine with approximately equal affinity. Mediates Ras activation through G(s)-alpha- and cAMP-mediated signaling; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRB1 sub-subfamily 9606.ENSP00000358307 NHLRC2 726 NHL repeat containing 2 9606.ENSP00000358309 EPHA7 998 Ephrin type-A receptor 7; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repel [...] 9606.ENSP00000358310 ITGA10 1167 Integrin alpha-10; Integrin alpha-10/beta-1 is a receptor for collagen; Belongs to the integrin alpha chain family 9606.ENSP00000358312 PEX11B 259 Peroxisomal membrane protein 11B; Involved in peroxisomal proliferation. May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane. Promotes membrane protrusion and elongation on the peroxisomal surface; Belongs to the peroxin-11 family 9606.ENSP00000358316 PLEKHS1 465 Pleckstrin homology domain containing S1 9606.ENSP00000358320 POLR3GL 218 DNA-directed RNA polymerase III subunit RPC7-like; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs; Belongs to the eukaryotic RPC7 RNA polymerase subunit family 9606.ENSP00000358327 CASP7 388 Caspase-7; Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly- 217' bond. Overexpression promotes programmed cell death 9606.ENSP00000358335 MAP3K7 606 Mitogen-activated protein kinase kinase kinase 7; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Mediates signal transduction of TRAF6, various cytokines including interleukin-1 (IL-1), transforming growth factor-beta (TGFB), TGFB-related factors like BMP2 and BMP4, toll-like receptors (TLR), tumor necrosis factor receptor CD40 and B-cell receptor (BCR). Ceramides are also able to activate MAP3K7/TAK1. Once activated, acts as a [...] 9606.ENSP00000358358 GJA10 543 Gap junction alpha-10 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity); Belongs to the connexin family. Alpha-type (group II) subfamily 9606.ENSP00000358363 PDE4DIP 2362 Myomegalin; Functions as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or centrosomes (By similarity). Forms a complex with AKAP9: the complex recruits CAMSAP2 to the Golgi apparatus, leading to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement 9606.ENSP00000358365 NRAP 1731 Nebulin-related-anchoring protein; May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix; LIM domain containing 9606.ENSP00000358374 SCAF11 1463 Protein SCAF11; Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly; Ring finger proteins 9606.ENSP00000358391 FCGR1B 280 High affinity immunoglobulin gamma Fc receptor IB; May bind to the Fc region of immunoglobulins gamma with a low affinity compared to FCGR1A. May function in the humoral immune response 9606.ENSP00000358397 FAM72B 149 Protein FAM72B; Family with sequence similarity 72 member B; Belongs to the FAM72 family 9606.ENSP00000358400 MDN1 5596 Midasin; Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits. Functions at successive maturation steps to remove ribosomal factors at critical transition points, first driving the exit of early pre- 60S particles from the nucleolus and then driving late pre-60S particles from the nucleus (By similarity). At an early stage in 60S maturation, mediates the dissociation of the PeBoW complex (PES1-BOP1-WDR12) from early pre-60S particles, rendering them competent for export from the nucleolus to the nucleoplasm (By similarity). Subsequently recruited to [...] 9606.ENSP00000358404 TCF7L2 596 Transcription factor 7-like 2; Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of [...] 9606.ENSP00000358407 ADAM30 790 Disintegrin and metalloproteinase domain-containing protein 30; Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation; ADAM metallopeptidase domain containing 9606.ENSP00000358413 ZDHHC6 413 Palmitoyltransferase ZDHHC6; Endoplasmic reticulum palmitoyl acyltransferase that mediates palmitoylation of proteins such as AMFR, CALX, ITPR1 and TFRC. Palmitoylates calnexin (CALX), which is required for its association with the ribosome-translocon complex and efficient folding of glycosylated proteins. Mediates palmitoylation of AMFR, promoting AMFR distribution to the peripheral endoplasmic reticulum. Together with SELENOK, palmitoylates ITPR1 in immune cells, leading to regulate ITPR1 stability and function; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000358414 HMGCS2 508 Hydroxymethylglutaryl-CoA synthase, mitochondrial; This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase 9606.ENSP00000358417 PHGDH 533 D-3-phosphoglycerate dehydrogenase; Catalyzes the reversible oxidation of 3-phospho-D- glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate; Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family 9606.ENSP00000358421 HSD3B1 373 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17- alpha-hydroxyprogesterone, DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to [...] 9606.ENSP00000358423 RRAGD 400 Ras-related GTP-binding protein D; Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids 9606.ENSP00000358430 TECTB 329 Beta-tectorin; One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals 9606.ENSP00000358451 GDAP2 497 Ganglioside induced differentiation associated protein 2; Belongs to the GDAP2 family 9606.ENSP00000358458 FAM46C 391 Putative nucleotidyltransferase FAM46C; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase; Belongs to the FAM46 family 9606.ENSP00000358460 CLIC2 247 Chloride intracellular channel protein 2; Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx 9606.ENSP00000358464 SHOC2 582 Leucine-rich repeat protein SHOC-2; Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes 9606.ENSP00000358466 RAB39B 213 Ras-related protein Rab-39B; Small GTPases Rab involved in autophagy. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic retic [...] 9606.ENSP00000358470 VTCN1 282 V-set domain-containing T-cell activation inhibitor 1; Negatively regulates T-cell-mediated immune response by inhibiting T-cell activation, proliferation, cytokine production and development of cytotoxicity. When expressed on the cell surface of tumor macrophages, plays an important role, together with regulatory T-cells (Treg), in the suppression of tumor- associated antigen-specific T-cell immunity. Involved in promoting epithelial cell transformation; Immunoglobulin like domain containing 9606.ENSP00000358474 BRCC3 316 Lys-63-specific deubiquitinase BRCC36; Metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not have activity toward 'Lys-48'-linked polyubiquitin chains. Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). In the BRCA1-A complex, it specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX, antagonizing the RNF8-dependent ubiquitination at double [...] 9606.ENSP00000358478 TTF2 1162 Transcription termination factor 2; DsDNA-dependent ATPase which acts as a transcription termination factor by coupling ATP hydrolysis with removal of RNA polymerase II from the DNA template. May contribute to mitotic transcription repression. May also be involved in pre-mRNA splicing; Zinc fingers GRF-type 9606.ENSP00000358482 CD101 1021 Immunoglobulin superfamily member 2; Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3- induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T-cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marke [...] 9606.ENSP00000358488 MTCP1 107 Protein p13 MTCP-1; Enhances the phosphorylation and activation of AKT1 and AKT2 9606.ENSP00000358490 CD2 351 T-cell surface antigen CD2; CD2 interacts with lymphocyte function-associated antigen (LFA-3) and CD48/BCM1 to mediate adhesion between T-cells and other cell types. CD2 is implicated in the triggering of T- cells, the cytoplasmic domain is implicated in the signaling function; C2-set domain containing 9606.ENSP00000358494 C1orf137 98 Putative uncharacterized protein C1orf137; Chromosome 1 open reading frame 137 9606.ENSP00000358495 IGSF3 1214 Immunoglobulin superfamily member 3; Immunoglobulin like domain containing 9606.ENSP00000358496 CMC4 68 Cx9C motif-containing protein 4; C-X9-C motif containing 4 9606.ENSP00000358497 RNGTT 597 mRNA-capping enzyme; Bifunctional mRNA-capping enzyme exhibiting RNA 5'- triphosphatase activity in the N-terminal part and mRNA guanylyltransferase activity in the C-terminal part. Catalyzes the first two steps of cap formation: by removing the gamma-phosphate from the 5'-triphosphate end of nascent mRNA to yield a diphosphate end, and by transferring the gmp moiety of GTP to the 5'-diphosphate terminus 9606.ENSP00000358501 CD58 250 Lymphocyte function-associated antigen 3; Ligand of the T-lymphocyte CD2 glycoprotein. This interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of T-lymphocytes with target cells and antigen- presenting cells and the T-lymphocyte rosetting with erythrocytes. In addition, the LFA-3/CD2 interaction may prime response by both the CD2+ and LFA-3+ cells 9606.ENSP00000358510 FUNDC2 189 FUN14 domain containing 2; Belongs to the FUN14 family 9606.ENSP00000358512 MAB21L3 362 Protein mab-21-like 3; Mab-21 like 3 9606.ENSP00000358513 CNR1 472 Cannabinoid receptor 1; G-protein coupled receptor for endogenous cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2-arachidonoylglycerol (2-AG), as well as phytocannabinoids, such as delta(9)-tetrahydrocannabinol (THC). Mediates many cannabinoid-induced effects, acting, among others, on food intake, memory loss, gastrointestinal motility, catalepsy, ambulatory activity, anxiety, chronic pain. Signaling typically involves reduction in cyclic AMP. In the hypothalamus, may have a dual effect on mitochondrial respiration depending upon the agon [...] 9606.ENSP00000358515 SLC22A15 547 Solute carrier family 22 member 15; Probably transports organic cations (By similarity). Appears not to be the agmatine transporter; Solute carriers 9606.ENSP00000358518 F8A2 371 Coagulation factor VIII-associated 2; Not known. Possible housekeeping role 9606.ENSP00000358519 NHLH2 135 Helix-loop-helix protein 2; May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system; Basic helix-loop-helix proteins 9606.ENSP00000358525 NGF 241 Beta-nerve growth factor; Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades through those receptor tyrosine kinase to regulate neuronal proliferation, differentiation and survival. Inhibits metalloproteinase dependent proteolysis of platelet glycoprotein VI; Neurotrophins 9606.ENSP00000358529 TSPAN2 221 Tetraspanin-2; May play a role in signalling in oligodendrocytes in the early stages of their terminal differentiation into myelin-forming glia and may also function in stabilizing the mature sheath; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000358532 RBM20 1227 RNA-binding protein 20; RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin) 9606.ENSP00000358535 SYCP1 976 Synaptonemal complex protein 1; Major component of the transverse filaments of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for normal assembly of the central element of the synaptonemal complexes. Required for normal centromere pairing during meiosis. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility 9606.ENSP00000358541 SIKE1 211 Suppressor of IKBKE 1; Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways; Belongs to the SIKE family 9606.ENSP00000358542 SMIM9 99 Small integral membrane protein 9 9606.ENSP00000358547 MPP1 466 55 kDa erythrocyte membrane protein; Essential regulator of neutrophil polarity. Regulates neutrophil polarization by regulating AKT1 phosphorylation through a mechanism that is independent of PIK3CG activity (By similarity); Membrane associated guanylate kinases 9606.ENSP00000358548 NRAS 189 GTPase NRas; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity 9606.ENSP00000358549 RARS2 578 Probable arginine--tRNA ligase, mitochondrial; arginyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000358554 BCAS2 225 Pre-mRNA-splicing factor SPF27; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR) 9606.ENSP00000358563 DKC1 514 H/ACA ribonucleoprotein complex subunit 4; Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the t [...] 9606.ENSP00000358565 SLC35A1 337 CMP-sialic acid transporter; Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily 9606.ENSP00000358571 HIPK1 1210 Homeodomain-interacting protein kinase 1; Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by [...] 9606.ENSP00000358575 C6orf165 622 Cilia- and flagella-associated protein 206; May regulate cilium motility through its role in the assembly of the axonemal radial spokes 9606.ENSP00000358576 DCLRE1B 532 5' exonuclease Apollo; 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)- mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres [...] 9606.ENSP00000358582 AP4B1 739 AP-4 complex subunit beta-1; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper as [...] 9606.ENSP00000358590 ZNF292 2723 Zinc finger protein 292; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000358596 DUSP5 384 Dual specificity protein phosphatase 5; Dual specificity protein phosphatase; active with phosphotyrosine, phosphoserine and phosphothreonine residues. The highest relative activity is toward ERK1; MAP kinase phosphatases 9606.ENSP00000358616 SMNDC1 238 Survival of motor neuron-related-splicing factor 30; Necessary for spliceosome assembly. Overexpression causes apoptosis; Belongs to the SMN family 9606.ENSP00000358617 PHTF1 762 Putative homeodomain transcription factor 1; May play a role in transcription regulation 9606.ENSP00000358635 SYNCRIP 623 Heterogeneous nuclear ribonucleoprotein Q; Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD- mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing intermediates and mature mRNA protein complexes. Isoform 1 binds to apoB mRNA AU-rich sequences. Isoform 1 is part of the APOB mRNA editosome complex and may modulate the postranscriptional C to U RNA-editing of the APOB mRNA through either by binding to A1CF (APOBEC1 complementation factor), to APOBEC1 [...] 9606.ENSP00000358644 FAM19A3 169 Protein FAM19A3; Plays a role in the regulation of microglia polarization; Belongs to the FAM19/TAFA family 9606.ENSP00000358674 UBL4A 157 Ubiquitin-like protein 4A; As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthes [...] 9606.ENSP00000358677 TBX18 607 T-box transcription factor TBX18; Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area; T-boxes 9606.ENSP00000358695 CYB5R4 521 Cytochrome b5 reductase 4; NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c, feericyanide and methemoglobin 9606.ENSP00000358696 PLXNA3 1871 Plexin-A3; Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for s [...] 9606.ENSP00000358698 WNT2B 391 Protein Wnt-2b; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. May be involved in normal development or differentiation as well as in carcinogenesis 9606.ENSP00000358703 RIPPLY2 128 Protein ripply2; Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity) 9606.ENSP00000358714 PRSS35 413 Serine protease 35 9606.ENSP00000358715 SORCS3 1222 Sortilin related VPS10 domain containing receptor 3; Belongs to the VPS10-related sortilin family. SORCS subfamily 9606.ENSP00000358716 DDX20 824 Probable ATP-dependent RNA helicase DDX20; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm compl [...] 9606.ENSP00000358718 CFAP58 872 Cilia and flagella associated protein 58; Belongs to the CFAP58 family 9606.ENSP00000358719 ME1 572 Malic enzyme 1 9606.ENSP00000358723 RAP1A 184 Ras-related protein Rap-1A; Induces morphological reversion of a cell line transformed by a Ras oncogene. Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. May be involved in the regulation of the vascular endothelial grow [...] 9606.ENSP00000358727 GSTO1 241 Glutathione S-transferase omega-1; Exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities. Has S-(phenacyl)glutathione reductase activity. Has also glutathione S-transferase activity. Participates in the biotransformation of inorganic arsenic and reduces monomethylarsonic acid (MMA) and dimethylarsonic acid; Soluble glutathione S-transferases 9606.ENSP00000358730 ADORA3 347 Transmembrane domain-containing protein TMIGD3; Isoform 1: Plays a suppressive role in osteosarcoma malignancy by inhibiting NF-kappa-B activity; Adenosine receptors 9606.ENSP00000358737 ATP5F1 256 ATP synthase F(0) complex subunit B1, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechani [...] 9606.ENSP00000358739 RWDD2A 292 RWD domain containing 2A 9606.ENSP00000358742 SFR1 245 Swi5-dependent recombination DNA repair protein 1 homolog; Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination. Acts as a transcriptional modulator for ESR1; Belongs to the SFR1/MEI5 family 9606.ENSP00000358747 OVGP1 678 Oviduct-specific glycoprotein; Binds to oocyte zona pellucida in vivo. May play a role in the fertilization process and/or early embryonic development; Chitinases 9606.ENSP00000358753 PIFO 191 Protein pitchfork; During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in a cell cycle-dependent manner 9606.ENSP00000358755 CHIA 476 Acidic mammalian chitinase; Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on [...] 9606.ENSP00000358762 UBE3D 389 E3 ubiquitin-protein ligase E3D; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome 9606.ENSP00000358765 TPBG 420 Trophoblast glycoprotein; May function as an inhibitor of Wnt/beta-catenin signaling by indirectly interacting with LRP6 and blocking Wnt3a- dependent LRP6 internalization 9606.ENSP00000358770 SLK 1235 STE20-like serine/threonine-protein kinase; Mediates apoptosis and actin stress fiber dissolution; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily 9606.ENSP00000358777 ATP6AP1 470 V-type proton ATPase subunit S1; Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the [...] 9606.ENSP00000358778 LRIF1 769 Ligand-dependent nuclear receptor-interacting factor 1; Represses the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA). This repression may occur through direct recruitment of histone deacetylases; Belongs to the LRIF1 family 9606.ENSP00000358783 NPBWR2 333 Neuropeptides B/W receptor type 2; Interacts specifically with a number of opioid ligands. Receptor for neuropeptides B and W, which may be involved in neuroendocrine system regulation, food intake and the organization of other signals; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000358784 KCNA3 575 Potassium voltage-gated channel subfamily A member 3; Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient; Potassium voltage-gated channels 9606.ENSP00000358786 KCNA10 511 Potassium voltage-gated channel subfamily A member 10; Mediates voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. The channel activity is up-regulated by cAMP; Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.8/KCNA10 sub-subfamily 9606.ENSP00000358794 SLC16A4 487 Monocarboxylate transporter 5; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Solute carriers 9606.ENSP00000358795 NEURL1 574 E3 ubiquitin-protein ligase NEURL1; Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element- binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; [...] 9606.ENSP00000358798 CALHM3 344 Calcium homeostasis modulator protein 3; Pore-forming subunit of a voltage-gated ion channel; Belongs to the CALHM family 9606.ENSP00000358799 RBM15 977 Putative RNA-binding protein 15; May function as an mRNA export factor, stimulating export and expression of RTE-containing mRNAs which are present in many retrotransposons that require to be exported prior to splicing. High affinity binding of pre-mRNA to RBM15 may allow targeting of the mRNP to the export helicase DBP5 in a manner that is independent of splicing-mediated NXF1 deposition, resulting in export prior to splicing. May be implicated in HOX gene regulation; Belongs to the RRM Spen family 9606.ENSP00000358802 KCNC4 635 Potassium voltage-gated channel subfamily C member 4; This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient; Potassium voltage-gated channels 9606.ENSP00000358807 ALX3 343 Homeobox protein aristaless-like 3; Transcriptional regulator with a possible role in patterning of mesoderm during development; PRD class homeoboxes and pseudogenes 9606.ENSP00000358810 STRIP1 837 Striatin-interacting protein 1; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape; STRIPAK complex 9606.ENSP00000358812 PDCD11 1871 Protein RRP5 homolog; Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA; Minor histocompatibility antigens 9606.ENSP00000358813 TTK 857 Dual specificity protein kinase TTK; Phosphorylates proteins on serine, threonine, and tyrosine. Probably associated with cell proliferation. Essential for chromosome alignment by enhancing AURKB activity (via direct CDCA8 phosphorylation) at the centromere, and for the mitotic checkpoint 9606.ENSP00000358814 AHCYL1 530 S-adenosylhomocysteine hydrolase-like protein 1; Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5- trisphosphate competing for the common binding site and acting as endogenous 'pseudoligand' whose inhibitory activity can be modulated by its phosphorylation status. In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5- trisphosphate-induced calcium release by interacting with I [...] 9606.ENSP00000358815 NEURL1B 555 E3 ubiquitin-protein ligase NEURL1B; E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands; Ring finger proteins 9606.ENSP00000358820 EPS8L3 594 Epidermal growth factor receptor kinase substrate 8-like protein 3; EPS8 like 3 9606.ENSP00000358824 DNASE1L1 302 Deoxyribonuclease 1 like 1; Belongs to the DNase I family 9606.ENSP00000358831 ELOVL4 314 Elongation of very long chain fatty acids protein 4; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that specifically elongates C24:0 and C26:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and [...] 9606.ENSP00000358840 USMG5 58 Up-regulated during skeletal muscle growth protein 5; Plays a critical role in maintaining the ATP synthase population in mitochondria 9606.ENSP00000358851 GSTM4 218 Glutathione S-transferase Mu 4; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Active on 1- chloro-2,4-dinitrobenzene; Soluble glutathione S-transferases 9606.ENSP00000358853 SH3BGRL2 107 SH3 domain binding glutamate rich protein like 2; Belongs to the SH3BGR family 9606.ENSP00000358854 TAF5 800 Transcription initiation factor TFIID subunit 5; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. TAF5/TAFII100 interacts strongly with the histone H4-related TAF6/TAFII80 and the histone H3-related TAF9/TAFII31, as well as a stable complex comprised of both TAF5/TAFII80 and TAF6/TAFII31. Apparently weaker interactions of TAF5/TAFII100 with TBP, TAF1/TAFII250, TAF11/TAFII28, and TAF12/TAFII20, but not TAF7/TA [...] 9606.ENSP00000358857 EMD 254 Emerin; Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta- catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The [...] 9606.ENSP00000358862 PCGF6 350 Polycomb group RING finger protein 6; Transcriptional repressor. May modulate the levels of histone H3K4Me3 by activating KDM5D histone demethylase. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 [...] 9606.ENSP00000358865 INA 499 Alpha-internexin; Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NF-L to form the filamentous backbone to which NF-M and NF-H attach to form the cross-bridges 9606.ENSP00000358866 FLNA 2647 Filamin-A; Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the de [...] 9606.ENSP00000358867 GNAI3 354 Guanine nucleotide-binding protein G(k) subunit alpha; Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modul [...] 9606.ENSP00000358880 AMIGO1 493 Amphoterin-induced protein 1; Promotes growth and fasciculation of neurites from cultured hippocampal neurons. May be involved in fasciculation as well as myelination of developing neural axons. May have a role in regeneration as well as neural plasticity in the adult nervous system. May mediate homophilic as well as heterophilic cell-cell interaction and contribute to signal transduction through its intracellular domain. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1; Belongs to the immunoglobulin superfamil [...] 9606.ENSP00000358884 CYB561D1 251 Cytochrome b561 family member D1 9606.ENSP00000358886 ATXN7L2 722 Ataxin-7-like protein 2; Ataxin 7 like 2 9606.ENSP00000358888 SYPL2 272 Synaptophysin-like protein 2; Involved in communication between the T-tubular and junctional sarcoplasmic reticulum (SR) membranes; Synaptophysins 9606.ENSP00000358894 CNNM2 875 Metal transporter CNNM2; Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity) 9606.ENSP00000358896 AS3MT 375 Arsenite methyltransferase; Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals. It methylates arsenite to form methylarsonate, Me- AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2. Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (By similarity); Belongs to the methyltransferase superfamily. Arsenite methyltransferase family 9606.ENSP00000358902 SAMD10 202 Sterile alpha motif domain containing 10 9606.ENSP00000358903 CYP17A1 508 Steroid 17-alpha-hydroxylase/17,20 lyase; Conversion of pregnenolone and progesterone to their 17- alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty; Belongs to the cytochrome P450 family 9606.ENSP00000358909 SFXN2 322 Sideroflexin-2; Potential iron transporter; Sideroflexins 9606.ENSP00000358918 SUFU 484 Suppressor of fused homolog; Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Down- regulates GLI2-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta- catenin signaling. Regulates the formation of either the repressor form (G [...] 9606.ENSP00000358921 ACTR1A 376 Alpha-centractin; Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome; Actin related proteins 9606.ENSP00000358925 PSRC1 333 Proline/serine-rich coiled-coil protein 1; Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Increases the rate of turnover of microtubules on metaphase spindles, and contributes to the generation of normal tension across sister kinetochores. Recruits KIF2A and ANKRD53 to the mitotic spindle and spindle poles. May participate in p53/TP53-regulated growth suppression; Belongs to the PSRC1 family 9606.ENSP00000358931 TKTL1 596 Transketolase-like protein 1; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate 9606.ENSP00000358932 ABHD16B 469 Protein ABHD16B; Abhydrolase domain containing 16B; Belongs to the AB hydrolase superfamily. ABHD16 family 9606.ENSP00000358945 ENSG00000166160 364 Opsin 1 (cone pigments), medium-wave-sensitive 2; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal 9606.ENSP00000358953 CUEDC2 287 CUE domain-containing protein 2; Down-regulates ESR1 protein levels through the ubiquitination-proteasome pathway, regardless of the presence of 17 beta-estradiol. Also involved in 17 beta-estradiol-induced ESR1 degradation. Controls PGR protein levels through a similar mechanism 9606.ENSP00000358955 KIAA1324 1013 UPF0577 protein KIAA1324; May protect cells from cell death by inducing cytosolic vacuolization and upregulating the autophagy pathway 9606.ENSP00000358956 IRAK1BP1 260 Interleukin-1 receptor-associated kinase 1-binding protein 1; Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity); Belongs to the IRAK1BP1 family 9606.ENSP00000358963 HTR1B 390 5-hydroxytryptamine receptor 1B; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances, such as lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Arrestin family members inhibit signaling via G proteins and medi [...] 9606.ENSP00000358965 C1orf194 157 Uncharacterized protein C1orf194; Chromosome 1 open reading frame 194 9606.ENSP00000358966 IMPG1 797 Interphotoreceptor matrix proteoglycan 1; May interact with hyaluronan which may serve to form a basic macromolecular scaffold comprising the insoluble interphotoreceptor matrix 9606.ENSP00000358967 OPN1LW 364 Long-wave-sensitive opsin 1; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal 9606.ENSP00000358983 NFKB2 900 Nuclear factor NF-kappa-B p100 subunit; NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the indiv [...] 9606.ENSP00000358994 MYO6 1285 Unconventional myosin-VI; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated [...] 9606.ENSP00000358997 IRAK1 712 Interleukin-1 receptor-associated kinase 1; Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor- signaling complex upon TLR activation. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiqui [...] 9606.ENSP00000358999 TMEM187 261 Transmembrane protein 187 9606.ENSP00000359000 GBF1 1859 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1; Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), a [...] 9606.ENSP00000359013 TNFRSF6B 300 Tumor necrosis factor receptor superfamily, member 6b, decoy; Decoy receptor that can neutralize the cytotoxic ligands TNFS14/LIGHT, TNFSF15 and TNFSF6/FASL. Protects against apoptosis; Tumor necrosis factor receptor superfamily 9606.ENSP00000359018 AKNAD1 836 Protein AKNAD1; AKNA domain containing 1 9606.ENSP00000359019 PITX3 302 Pituitary homeobox 3; Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1- mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep pr [...] 9606.ENSP00000359022 ELOVL3 270 Elongation of very long chain fatty acids protein 3; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of memb [...] 9606.ENSP00000359025 STXBP3 592 Syntaxin-binding protein 3; Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes 9606.ENSP00000359034 FNDC7 733 Fibronectin type III domain containing 7 9606.ENSP00000359042 PRPF38B 546 Pre-mRNA-splicing factor 38B; May be required for pre-mRNA splicing 9606.ENSP00000359045 ARHGAP4 986 Rho GTPase-activating protein 4; Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells; F-BAR domain containing 9606.ENSP00000359049 HENMT1 393 Small RNA 2'-O-methyltransferase; Methyltransferase that adds a 2'-O-methyl group at the 3'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3'-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000359050 C10orf76 689 UPF0668 protein C10orf76; Chromosome 10 open reading frame 76 9606.ENSP00000359052 FAM102B 360 Protein FAM102B; Family with sequence similarity 102 member B; NT-C2 domain containing 9606.ENSP00000359070 STMN3 180 Stathmin-3; Exhibits microtubule-destabilizing activity, which is antagonized by STAT3; Stathmins 9606.ENSP00000359073 VAV3 847 Guanine nucleotide exchange factor VAV3; Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1- induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a [...] 9606.ENSP00000359077 L1CAM 1257 Neural cell adhesion molecule L1; Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity; CD molecules 9606.ENSP00000359085 NTNG1 539 Netrin-G1; Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites; Netrins 9606.ENSP00000359095 PRMT6 375 Protein arginine N-methyltransferase 6; Arginine methyltransferase that can catalyze the formation of both omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA), with a strong preference for the formation of aDMA. Preferentially methylates arginyl residues present in a glycine and arginine-rich domain and displays preference for monomethylated substrates. Specifically mediates the asymmetric dimethylation of histone H3 'Arg-2' to form H3R2me2a. H3R2me2a represents a specific tag for epigenetic transcriptional repression and is mutually exclusive with methylation on [...] 9606.ENSP00000359096 AMY1C 511 Amylase, alpha 1C 9606.ENSP00000359098 COX7A2 115 Cytochrome c oxidase subunit 7A2, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000359100 AMY1A 511 Amylase, alpha 1A 9606.ENSP00000359114 COL11A1 1806 Collagen alpha-1(XI) chain; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils; Collagens 9606.ENSP00000359119 SRPK3 567 SRSF protein kinase 3; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development (By similarity) 9606.ENSP00000359127 DPH5 285 Diphthine methyl ester synthase; S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis 9606.ENSP00000359128 NPM3 178 Nucleoplasmin-3; May act as a chaperone 9606.ENSP00000359130 SLC30A7 376 Zinc transporter 7; Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc- requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity); Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily 9606.ENSP00000359132 EXTL2 330 Exostosin-like 2; Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N- acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains 9606.ENSP00000359149 FBXW4 412 F-box/WD repeat-containing protein 4; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling; F-box and WD repeat domain containing 9606.ENSP00000359151 DBT 482 Dihydrolipoamide branched chain transacylase E2; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component 9606.ENSP00000359160 TRMT13 481 tRNA:m(4)X modification enzyme TRM13 homolog; tRNA methylase which 2'-O-methylates cytidine(4) in tRNA(Pro) and tRNA(Gly)(GCC), and adenosine(4) in tRNA(His) 9606.ENSP00000359170 DPCD 203 Protein DPCD; May play a role in the formation or function of ciliated cells 9606.ENSP00000359171 HIAT1 490 Hippocampus abundant transcript 1 9606.ENSP00000359172 SLC35A3 367 UDP-N-acetylglucosamine transporter; Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily 9606.ENSP00000359181 POLL 575 DNA polymerase lambda; DNA polymerase that functions in several pathways of DNA repair. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination. Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities. Has also a 5'-deoxyribose-5- phosphate lyase (dRP lyase) activity; Belongs to the DNA polymerase type-X family 9606.ENSP00000359198 PPDPF 114 Pancreatic progenitor cell differentiation and proliferation factor; Probable regulator of exocrine pancreas development 9606.ENSP00000359204 LPPR4 763 Phospholipid phosphatase-related protein type 4; Hydrolyzes lysophosphatidic acid (LPA). Facilitates axonal outgrowth during development and regenerative sprouting. In the outgrowing axons acts as an ecto-enzyme and attenuates phospholipid-induced axon collapse in neurons and facilitates outgrowth in the hippocampus 9606.ENSP00000359206 BTRC 605 F-box/WD repeat-containing protein 1A; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds to phosphorylated target proteins. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling. SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. Ubiquitination of NFKBIA occurs at 'Lys- 21 [...] 9606.ENSP00000359211 DPYD 1025 Dihydropyrimidine dehydrogenase [NADP(+)]; Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil; Belongs to the dihydropyrimidine dehydrogenase family 9606.ENSP00000359212 LBX1 281 Transcription factor LBX1; Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000359215 TLX1 330 T-cell leukemia homeobox protein 1; Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000359216 PTBP2 537 Polypyrimidine tract-binding protein 2; RNA-binding protein which binds to intronic polypyrimidine tracts and mediates negative regulation of exons splicing. May antagonize in a tissue-specific manner the ability of NOVA1 to activate exon selection. In addition to its function in pre-mRNA splicing, plays also a role in the regulation of translation. Isoform 5 has a reduced affinity for RNA 9606.ENSP00000359219 KAZALD1 304 Kazal-type serine protease inhibitor domain-containing protein 1; Involved in the proliferation of osteoblasts during bone formation and bone regeneration. Promotes matrix assembly (By similarity); I-set domain containing 9606.ENSP00000359221 RWDD3 267 RWD domain-containing protein 3; Enhancer of SUMO conjugation. Via its interaction with UBE2I/UBC9, increases SUMO conjugation to proteins by promoting the binding of E1 and E2 enzymes, thioester linkage between SUMO and UBE2I/UBC9 and transfer of SUMO to specific target proteins which include HIF1A, PIAS, NFKBIA, NR3C1 and TOP1. Isoform 1 and isoform 2 positively regulate the NF-kappa-B signaling pathway by enhancing the sumoylation of NF-kappa-B inhibitor alpha (NFKBIA), promoting its stabilization which consequently leads to an increased inhibition of NF-kappa-B transcriptional acti [...] 9606.ENSP00000359222 TMEM56 263 Transmembrane protein 56; TLC domain containing 9606.ENSP00000359224 ALG14 216 UDP-N-acetylglucosamine transferase subunit ALG14 homolog; May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER; Belongs to the ALG14 family 9606.ENSP00000359225 CNN3 329 Calponin-3; Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity 9606.ENSP00000359230 HAUS7 368 HAUS augmin-like complex subunit 7; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex; Belongs to the HAUS7 family 9606.ENSP00000359233 ABCD3 659 ATP-binding cassette sub-family D member 3; Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis. The nucleotide-binding fold acts as an ATP- binding subunit with ATPase activity 9606.ENSP00000359240 LZTS2 669 Leucine zipper putative tumor suppressor 2; Negative regulator of katanin-mediated microtubule severing and release from the centrosome. Required for central spindle formation and the completion of cytokinesis. May negatively regulate axonal outgrowth by preventing the formation of microtubule bundles that are necessary for transport within the elongating axon. Negative regulator of the Wnt signaling pathway. Represses beta-catenin-mediated transcriptional activation by promoting the nuclear exclusion of beta-catenin; Belongs to the LZTS2 family 9606.ENSP00000359245 ABCA4 2273 Retinal-specific ATP-binding cassette transporter; In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing [...] 9606.ENSP00000359258 GCLM 274 Glutamate-cysteine ligase modifier subunit; Belongs to the aldo/keto reductase family. Glutamate-- cysteine ligase light chain subfamily 9606.ENSP00000359264 BCAR3 825 Breast cancer anti-estrogen resistance protein 3; May act as an adapter protein and couple activated growth factor receptors to a signaling pathway that regulates the proliferation in breast cancer cells. When overexpressed, it confers anti-estrogen resistance in breast cancer cell lines. May also be regulated by cellular adhesion to extracellular matrix proteins; NSP adaptor proteins 9606.ENSP00000359271 ZNF275 329 Zinc finger protein 275; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000359285 CHRNA4 627 Neuronal acetylcholine receptor subunit alpha-4; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodium ions; Cholinergic receptors nicotinic subunits 9606.ENSP00000359292 FAM178A 1186 SMC5-SMC6 complex localization factor protein 2; Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication- coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks. Promotes the recruitment of the SMC5-SMC6 complex to DNA lesions; Belongs to the FAM178 family 9606.ENSP00000359295 DR1 176 Protein Dr1; The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 9606.ENSP00000359297 NSDHL 373 Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000359300 CETN2 172 Centrin-2; Plays a fundamental role in microtubule organizing center structure and function. Required for centriole duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CCP110; Belongs to the centrin family 9606.ENSP00000359305 TMED5 229 Transmembrane emp24 domain-containing protein 5; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle- mediated retrograde transport; Transmembrane p24 trafficking proteins 9606.ENSP00000359310 CSAG1 78 Putative chondrosarcoma-associated gene 1 protein; Chondrosarcoma associated gene 1 9606.ENSP00000359319 PAX2 396 Paired box protein Pax-2; Transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS; PRD class homeoboxes and pseudogenes 9606.ENSP00000359321 MTF2 593 Metal-response element-binding transcription factor 2; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity. Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation. Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated [...] 9606.ENSP00000359333 FAM69A 428 Protein FAM69A; Family with sequence similarity 69 member A 9606.ENSP00000359337 GABRA3 492 Gamma-aminobutyric acid receptor subunit alpha-3; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000359339 MB21D1 522 Cyclic GMP-AMP synthase; Nucleotidyltransferase that catalyzes the formation of cyclic GMP-AMP (cGAMP) from ATP and GTP. Catalysis involves both the formation of a 2',5' phosphodiester linkage at the GpA step and the formation of a 3',5' phosphodiester linkage at the ApG step, producing c[G(2',5')pA(3',5')p]. Acts as a key cytosolic DNA sensor, the presence of double-stranded DNA (dsDNA) in the cytoplasm being a danger signal that triggers the immune responses. Binds cytosolic DNA directly, leading to activation and synthesis of cGAMP, a second messenger that binds to and activates TME [...] 9606.ENSP00000359340 NKAIN4 208 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4; Sodium/potassium transporting ATPase interacting 4; Belongs to the NKAIN family 9606.ENSP00000359345 RPL5 297 60S ribosomal protein L5; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl- transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through [...] 9606.ENSP00000359353 GABRE 506 Gamma-aminobutyric acid receptor subunit epsilon; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000359356 EVI5 810 Ecotropic viral integration site 5 protein homolog; Functions as a regulator of cell cycle progression by stabilizing the FBXO5 protein and promoting cyclin-A accumulation during interphase. May play a role in cytokinesis 9606.ENSP00000359357 GFI1 422 Zinc finger protein Gfi-1; Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes. Component of several complexes, including the EHMT2- GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. [...] 9606.ENSP00000359361 DDX43 648 Probable ATP-dependent RNA helicase DDX43; DEAD-box helicase 43 9606.ENSP00000359364 YTHDF1 559 YTH domain-containing family protein 1; Specifically recognizes and binds N6-methyladenosine (m6A)-containing mRNAs, and promotes mRNA translation efficiency. M6A is a modification present at internal sites of mRNAs and some non- coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. Acts as a regulator of mRNA translation efficiency: promotes ribosome loading to m6A- containing mRNAs and interacts with translation initiation factors eIF3 (EIF3A or EIF3B) to facilitate translation initiation 9606.ENSP00000359370 SEC31B 1179 Protein transport protein Sec31B; As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum; Belongs to the WD repeat SEC31 family 9606.ENSP00000359375 FATE1 183 Fetal and adult testis-expressed transcript protein; Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling. Negatively regulates the ER- mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis. May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling 9606.ENSP00000359376 SLC17A9 436 Solute carrier family 17 member 9; Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles; Solute carriers 9606.ENSP00000359378 PRRG3 231 Transmembrane gamma-carboxyglutamic acid protein 3; Proline rich and Gla domain containing 9606.ENSP00000359380 SCD 359 Acyl-CoA desaturase; Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA. Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids. Plays an important role in lipid biosynthesis. Plays an important role in regulating the expression of genes that are involved in lipogenesis and in regulating mitochondrial fatty acid oxidation (By simi [...] 9606.ENSP00000359382 PASD1 773 Circadian clock protein PASD1; Functions as a suppressor of the biological clock that drives the daily circadian rhythms of cells throughout the body. Acts as a nuclear repressor of the CLOCK- ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock components. Inhibits circadian clock function in cancer cells, when overexpressed 9606.ENSP00000359384 OOEP 149 Oocyte-expressed protein homolog; As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions; Belongs to the KHDC1 family 9606.ENSP00000359385 GLMN 594 Glomulin; Essential for normal development of the vasculature. May represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12. May function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production 9606.ENSP00000359392 KHDC3L 217 KHDC3-like protein; KH domain containing 3 like, subcortical maternal complex member; Belongs to the KHDC1 family 9606.ENSP00000359393 HMGB3 200 High mobility group protein B3; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference to non- canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a cytoplasmic promiscuous immunogenic DNA/RNA sensor (By similarity). Negatively regulates B-cel [...] 9606.ENSP00000359396 DPPA5 116 Developmental pluripotency-associated 5 protein; Involved in the maintenance of embryonic stem (ES) cell pluripotency. Dispensable for self-renewal of pluripotent ES cells and establishment of germ cells. Associates with specific target mRNAs (By similarity); Belongs to the KHDC1 family 9606.ENSP00000359398 BLOC1S2 142 Biogenesis of lysosome-related organelles complex 1 subunit 2; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (By similarity). As part of the BORC complex may play a role in l [...] 9606.ENSP00000359401 C1orf146 180 Uncharacterized protein C1orf146; Chromosome 1 open reading frame 146 9606.ENSP00000359404 KIAA1107 1354 Uncharacterized protein KIAA1107; KIAA1107 9606.ENSP00000359410 EPHX4 362 Epoxide hydrolase 4; Abhydrolase domain containing 9606.ENSP00000359411 KHDC1 237 KH homology domain-containing protein 1; KH domain containing 1; Belongs to the KHDC1 family 9606.ENSP00000359415 KHDC1L 128 Putative KHDC1-like protein; KH domain containing 1 like; Belongs to the KHDC1 family 9606.ENSP00000359417 MTMR1 665 Myotubularin-related protein 1; Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)- bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by PubMed:27018598, while PubMed:11733541 find no activity with this substrate; Myotubularins 9606.ENSP00000359423 MTM1 603 Myotubularin; Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not f [...] 9606.ENSP00000359424 CHUK 745 Inhibitor of nuclear factor kappa-B kinase subunit alpha; Serine kinase that plays an essential role in the NF- kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into [...] 9606.ENSP00000359434 CXorf40B 158 Protein CXorf40B; Chromosome X open reading frame 40B 9606.ENSP00000359444 HSFX1 423 Heat shock transcription factor family, X-linked 1 9606.ENSP00000359446 CPN1 458 Carboxypeptidase N catalytic chain; Protects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation; M14 carboxypeptidases 9606.ENSP00000359454 HFM1 1435 Probable ATP-dependent DNA helicase HFM1; Required for crossover formation and complete synapsis of homologous chromosomes during meiosis; RNA helicases 9606.ENSP00000359464 OGFRL1 451 Opioid growth factor receptor like 1 9606.ENSP00000359474 BARHL2 387 BarH-like 2 homeobox protein; Potential regulator of neural basic helix-loop-helix genes; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000359478 ABCC2 1545 Canalicular multispecific organic anion transporter 1; Mediates hepatobiliary excretion of numerous organic anions. May function as a cellular cisplatin transporter; ATP binding cassette subfamily C 9606.ENSP00000359483 LRRC8C 803 Volume-regulated anion channel subunit LRRC8C; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition 9606.ENSP00000359484 SMAP1 467 Stromal membrane-associated protein 1; GTPase activating protein that acts on ARF6. Plays a role in clathrin-dependent endocytosis. May play a role in erythropoiesis (By similarity); ArfGAPs 9606.ENSP00000359485 GBP6 633 Guanylate-binding protein 6; Binds GTP, GDP and GMP 9606.ENSP00000359488 GBP5 586 Guanylate-binding protein 5; As an activator of NLRP3 inflammasome assembly, plays a role in innate immunity and inflammation. Promotes selective NLRP3 inflammasome assembly in response to microbial and soluble, but not crystalline, agents. Hydrolyzes GTP, but in contrast to other family members, does not produce GMP 9606.ENSP00000359489 AFF2 1311 AF4/FMR2 family member 2; RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure; AF4/FMR2 family 9606.ENSP00000359490 GBP4 640 Guanylate-binding protein 4; Binds GTP, GDP and GMP. Hydrolyzes GTP very efficiently; GDP rather than GMP is the major reaction product. Plays a role in erythroid differentiation (By similarity) 9606.ENSP00000359497 GBP2 591 Guanylate-binding protein 2; Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions, but the major reaction product is GDP. Exhibits antiviral activity against influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes (By similarity); Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily 9606.ENSP00000359498 FMR1NB 255 Fragile X mental retardation 1 neighbor protein; FMR1 neighbor 9606.ENSP00000359504 GBP1 592 Guanylate-binding protein 1; Hydrolyzes GTP to GMP in 2 consecutive cleavage reactions. Exhibits antiviral activity against influenza virus. Promote oxidative killing and deliver antimicrobial peptides to autophagolysosomes, providing broad host protection against different pathogen classes 9606.ENSP00000359505 C6orf57 108 Succinate dehydrogenase assembly factor 4, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Binds to the flavoprotein subunit SDHA in its FAD-bound form, blocking the generation of excess reactive oxigen species (ROS) and facilitating its assembly with the iron [...] 9606.ENSP00000359506 FMR1 632 Synaptic functional regulator FMR1; Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of a subset of mRNAs. Plays a role in the alternative splicing of its own mRNA. Plays a role in mRNA nuclear export (By similarity). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Stabilizes the scaffolding postsyna [...] 9606.ENSP00000359507 CUTC 273 Copper homeostasis protein cutC homolog; May play a role in copper homeostasis. Can bind one Cu(1+) per subunit 9606.ENSP00000359512 GBP3 595 Guanylate-binding protein 3; Exhibits antiviral activity against influenza virus; Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily 9606.ENSP00000359518 MRGBP 204 MRG/MORF4L-binding protein; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative [...] 9606.ENSP00000359520 ENTPD7 604 Ectonucleoside triphosphate diphosphohydrolase 7; Preferentially hydrolyzes nucleoside 5'-triphosphates. The order of activity with respect to possible substrates is UTP > GTP > CTP 9606.ENSP00000359521 SLITRK2 845 SLIT and NTRK-like protein 2; It is involved in synaptogenesis and promotes excitatory synapse differentiation. Suppresses neurite outgrowth (By similarity) 9606.ENSP00000359524 SPANXN1 72 Sperm protein associated with the nucleus on the X chromosome N1; SPANX family member N1; Belongs to the SPAN-X family 9606.ENSP00000359526 SLC25A28 364 Mitoferrin-2; Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity); Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000359531 GTF2B 316 Transcription initiation factor IIB; General factor that plays a major role in the activation of eukaryotic genes transcribed by RNA polymerase II; Belongs to the TFIIB family 9606.ENSP00000359532 NTSR1 418 Neurotensin receptor type 1; G-protein coupled receptor for the tridecapeptide neurotensin (NTS). Signaling is effected via G proteins that activate a phosphatidylinositol-calcium second messenger system. Signaling leads to the activation of downstream MAP kinases and protects cells against apoptosis 9606.ENSP00000359534 SPANXN3 141 Sperm protein associated with the nucleus on the X chromosome N3; SPANX family member N3; Belongs to the SPAN-X family 9606.ENSP00000359539 GOT1 413 Aspartate aminotransferase, cytoplasmic; Biosynthesis of L-glutamate from L-aspartate or L- cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3- [...] 9606.ENSP00000359540 CREG1 220 Protein CREG1; May contribute to the transcriptional control of cell growth and differentiation. Antagonizes transcriptional activation and cellular transformation by the adenovirus E1A protein. The transcriptional control activity of cell growth requires interaction with IGF2R; Belongs to the CREG family 9606.ENSP00000359546 SPANXD 97 Sperm protein associated with the nucleus on the X chromosome D; SPANX family member D; Belongs to the SPAN-X family 9606.ENSP00000359549 SPANXA2 97 SPANX family member A2 9606.ENSP00000359550 SPANXA1 97 Sperm protein associated with the nucleus, X-linked, family member A1; Belongs to the SPAN-X family 9606.ENSP00000359552 PKN2 984 Serine/threonine-protein kinase N2; PKC-related serine/threonine-protein kinase and Rho/Rac effector protein that participates in specific signal transduction responses in the cell. Plays a role in the regulation of cell cycle progression, actin cytoskeleton assembly, cell migration, cell adhesion, tumor cell invasion and transcription activation signaling processes. Phosphorylates CTTN in hyaluronan-induced astrocytes and hence decreases CTTN ability to associate with filamentous actin. Phosphorylates HDAC5, therefore lead to impair HDAC5 import. Direct RhoA target required for the re [...] 9606.ENSP00000359557 LDOC1 146 Protein LDOC1; May have an important role in the development and/or progression of some cancers; Belongs to the LDOC1 family 9606.ENSP00000359558 C20orf166 117 Uncharacterized protein MIR1-1HG; Chromosome 20 open reading frame 166 9606.ENSP00000359563 CDR1 262 Cerebellar degeneration related protein 1 9606.ENSP00000359567 SOX3 446 Transcription factor SOX-3; Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By s [...] 9606.ENSP00000359571 CXorf66 361 Uncharacterized protein CXorf66; Chromosome X open reading frame 66 9606.ENSP00000359575 LMO4 165 LIM domain transcription factor LMO4; Probable transcriptional factor; LIM domain containing 9606.ENSP00000359579 ENSG00000267561 303 Heparan sulfate 2-O-sulfotransferase 1 9606.ENSP00000359581 HS2ST1 356 Heparan sulfate 2-O-sulfotransferase 1; Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high- affinity ligand-binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity); Sulfotransferases, membrane bound 9606.ENSP00000359583 HPSE2 592 Inactive heparanase-2; Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro) 9606.ENSP00000359594 CLCA4 919 Calcium-activated chloride channel regulator 4; May be involved in mediating calcium-activated chloride conductance; Chloride channel accessory 9606.ENSP00000359596 CLCA2 943 Calcium-activated chloride channel regulator 2; Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4; Belongs to the CLCR family 9606.ENSP00000359600 ODF2L 636 Outer dense fiber of sperm tails 2 like 9606.ENSP00000359603 COL24A1 1714 Collagen alpha-1(XXIV) chain; May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development; Belongs to the fibrillar collagen family 9606.ENSP00000359606 ZNHIT6 470 Box C/D snoRNA protein 1; Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis; Belongs to the BCD1 family 9606.ENSP00000359607 PYROXD2 581 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2; Probable oxidoreductase 9606.ENSP00000359609 LMBRD1 540 Probable lysosomal cobalamin transporter; Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV) 9606.ENSP00000359612 BCL10 233 B-cell lymphoma/leukemia 10; Involved in adaptive immune response. Promotes apoptosis, pro-caspase-9 maturation and activation of NF- kappa-B via NIK and IKK. May be an adapter protein between upstream TNFR1-TRADD-RIP complex and the downstream NIK-IKK-IKAP complex. Is a substrate for MALT1 9606.ENSP00000359621 MCOLN3 553 Mucolipin-3; Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity. Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway. Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle grow [...] 9606.ENSP00000359629 CRTAC1 661 Cartilage acidic protein 1 9606.ENSP00000359630 BAI3 1522 Adhesion G protein-coupled receptor B3; Receptor that plays a role in the regulation of synaptogenesis and dendritic spine formation at least partly via interaction with ELMO1 and RAC1 activity (By similarity). Promotes myoblast fusion through ELMO/DOCK1; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000359634 GOLGA7B 167 Golgin subfamily A member 7B; May be involved in protein transport from Golgi to cell surface; Belongs to the ERF4 family 9606.ENSP00000359640 MCOLN2 566 Mucolipin-2; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)- permeable cation channel with inwardly rectifying activity. May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6-regulated recycling pathway. May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine se [...] 9606.ENSP00000359645 RBMX 391 RNA-binding motif protein, X chromosome; RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates transcription from the tumor suppressor TXNIP gene promoter; may thus be involved in tumor suppression. When associated with SAFB, binds to and stimulates transcription from the SREBF1 promoter. Associates with nascent mRNAs transcribed by RNA polymerase II. Component of the supraspliceosome complex that regul [...] 9606.ENSP00000359660 AVPI1 147 Arginine vasopressin-induced protein 1; May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling 9606.ENSP00000359663 CD40LG 261 CD40 ligand; Cytokine that binds to CD40/TNFRSF5. Costimulates T-cell proliferation and cytokine production. Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation. Induces the activation of NF-kappa-B and kinases MAPK8 and PAK2 in T- cells. Induces tyrosine phosphorylation of isoform 3 of CD28. Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4. Involved in immunoglobulin class switching (By similarity); Belongs [...] 9606.ENSP00000359664 CTBS 385 Di-N-acetylchitobiase; Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N- acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase; Chitinases 9606.ENSP00000359665 PI4K2A 479 Phosphatidylinositol 4-kinase type 2-alpha; Membrane-bound phosphatidylinositol-4 kinase (PI4- kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of the second mess [...] 9606.ENSP00000359668 VGLL1 258 Transcription cofactor vestigial-like protein 1; May act as a specific coactivator for the mammalian TEFs; Belongs to the vestigial family 9606.ENSP00000359674 C10orf62 223 Uncharacterized protein C10orf62; Chromosome 10 open reading frame 62 9606.ENSP00000359675 GNG5 68 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000359680 HOGA1 327 4-hydroxy-2-oxoglutarate aldolase, mitochondrial; Catalyzes the final step in the metabolic pathway of hydroxyproline 9606.ENSP00000359682 BRS3 399 Bombesin receptor subtype-3; Role in sperm cell division, maturation, or function. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000359683 ENSG00000249967 449 Uncharacterized protein; Phosphatidylinositol 4-kinase type 2-alpha; Uncharacterized protein 9606.ENSP00000359685 PTP4A1 173 Protein tyrosine phosphatase type IVA 1; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis 9606.ENSP00000359688 RPF1 349 Ribosome production factor 1; May be required for ribosome biogenesis 9606.ENSP00000359691 LGSN 509 Lengsin; May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity (By similarity); Belongs to the glutamine synthetase family 9606.ENSP00000359693 FKBP1C 108 Peptidylprolyl isomerase; FK506 binding protein 1C; FKBP prolyl isomerases 9606.ENSP00000359698 UBTD1 227 Ubiquitin domain-containing protein 1; May be involved in the regulation of cellular senescence through a positive feedback loop with TP53. Is a TP53 downstream target gene that increases the stability of TP53 protein by promoting the ubiquitination and degradation of MDM2 9606.ENSP00000359699 DNASE2B 361 Deoxyribonuclease-2-beta; Hydrolyzes DNA under acidic conditions. Does not require divalent cations for activity. Participates in the degradation of nuclear DNA during lens cell differentiation 9606.ENSP00000359707 SAMD13 116 Sterile alpha motif domain containing 13 9606.ENSP00000359719 PRKACB 398 cAMP-dependent protein kinase catalytic subunit beta; Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs. PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and regulation of microtubule dynamics, chromatin condensation and decondensation, nuclear envelope disassembly and reassembly, as well as regulation of intracellular transport mechanisms and ion flux. Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subu [...] 9606.ENSP00000359727 BAG2 211 BAG family molecular chaperone regulator 2; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release; BCL2 associated athanogene family 9606.ENSP00000359729 SLC9A6 701 Sodium/hydrogen exchanger 6; Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis; Solute carriers 9606.ENSP00000359740 ZNF451 1061 E3 SUMO-protein ligase ZNF451; E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins. Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1. Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site 'Lys-11'. Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300- mediated a [...] 9606.ENSP00000359768 KIAA1586 787 E3 SUMO-protein ligase KIAA1586; E3 SUMO-protein ligase; facilitates UBE2I/UBC9-mediated SUMO2 modification of target proteins 9606.ENSP00000359778 ELTD1 690 Adhesion G protein-coupled receptor L4; Endothelial orphan receptor that acts as a key regulator of angiogenesis 9606.ENSP00000359782 BEND6 279 BEN domain-containing protein 6; Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis; BEN domain containing 9606.ENSP00000359783 IFI44 444 Interferon-induced protein 44; This protein aggregates to form microtubular structures; Belongs to the IFI44 family 9606.ENSP00000359787 IFI44L 452 Interferon-induced protein 44-like; Exhibits a low antiviral activity against hepatitis C virus; Belongs to the IFI44 family 9606.ENSP00000359788 DDX26B 861 Integrator complex subunit 6-like; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 9606.ENSP00000359793 PTGFR 359 Prostaglandin F2-alpha receptor; Receptor for prostaglandin F2-alpha (PGF2-alpha). The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. Initiates luteolysis in the corpus luteum (By similarity). Isoforms 2 to 7 do not bind PGF2-alpha but are proposed to modulate signaling by participating in variant receptor complexes; heterodimers between isoform 1 and isoform 5 are proposed to be a receptor for prostamides including the synthetic analog bimatoprost 9606.ENSP00000359795 GIPC2 315 PDZ domain-containing protein GIPC2; GIPC PDZ domain containing family member 2; Belongs to the GIPC family 9606.ENSP00000359799 DNAJB4 337 DnaJ homolog subfamily B member 4; Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro); DNAJ heat shock proteins 9606.ENSP00000359802 ZNF75D 510 Zinc finger protein 75D; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000359804 FUBP1 644 Far upstream element-binding protein 1; Regulates MYC expression by binding to a single-stranded far-upstream element (FUSE) upstream of the MYC promoter. May act both as activator and repressor of transcription 9606.ENSP00000359819 MOSPD1 213 Motile sperm domain-containing protein 1; Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to- mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation 9606.ENSP00000359820 FAM122C 195 Protein FAM122C; Family with sequence similarity 122C 9606.ENSP00000359829 USP33 942 Ubiquitin carboxyl-terminal hydrolase 33; Deubiquitinating enzyme involved in various processes such as centrosome duplication, cellular migration and beta-2 adrenergic receptor/ADRB2 recycling. Involved in regulation of centrosome duplication by mediating deubiquitination of CCP110 in S and G2/M phase, leading to stabilize CCP110 during the period which centrioles duplicate and elongate. Involved in cell migration via its interaction with intracellular domain of ROBO1, leading to regulate the Slit signaling. Plays a role in commissural axon guidance cross the ventral midline of the ne [...] 9606.ENSP00000359837 ZZZ3 903 ZZ-type zinc finger-containing protein 3; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 9606.ENSP00000359848 PIGK 395 GPI-anchor transamidase; Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein; Belongs to the peptidase C13 family 9606.ENSP00000359859 MTG2 406 Mitochondrial ribosome-associated GTPase 2; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays GTPase activity. Involved in the ribosome maturation process 9606.ENSP00000359864 GPC4 556 Glypican-4; Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity); Belongs to the glypican family 9606.ENSP00000359866 BMP5 454 Bone morphogenetic protein 5; Induces cartilage and bone formation; Bone morphogenetic proteins 9606.ENSP00000359871 ACADM 454 Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta- oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) 9606.ENSP00000359890 MBNL3 354 Muscleblind-like protein 3; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction; Zinc fingers CCCH-type 9606.ENSP00000359892 SLC44A5 719 Choline transporter-like protein 5; Solute carrier family 44 member 5; Belongs to the CTL (choline transporter-like) family 9606.ENSP00000359904 TYW3 259 tRNA wybutosine-synthesizing protein 3 homolog; Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity); Belongs to the TYW3 family 9606.ENSP00000359910 PSMA7 248 Proteasome subunit alpha type-7; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] 9606.ENSP00000359925 LRRC1 524 Leucine-rich repeat-containing protein 1; Leucine rich repeat containing 1 9606.ENSP00000359935 FPGT 607 Fucose-1-phosphate guanylyltransferase; Catalyzes the formation of GDP-L-fucose from GTP and L- fucose-1-phosphate. Functions as a salvage pathway to reutilize L- fucose arising from the turnover of glycoproteins and glycolipids 9606.ENSP00000359939 EXOSC1 195 Exosome complex component CSL4; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytop [...] 9606.ENSP00000359940 IGSF1 1341 Immunoglobulin superfamily member 1; Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription; Immunoglobulin like domain containing 9606.ENSP00000359942 KLHL31 634 Kelch-like protein 31; Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE); BTB domain containing 9606.ENSP00000359956 ELOVL5 326 Elongation of very long chain fatty acids protein 5; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multi [...] 9606.ENSP00000359958 ZRANB2 330 Zinc finger Ran-binding domain-containing protein 2; Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5'- splice site selection; Zinc fingers RANBP2-type 9606.ENSP00000359976 CTH 405 Cystathionine gamma-lyase; Catalyzes the last step in the trans-sulfuration pathway from methionine to cysteine. Has broad substrate specificity. Converts cystathionine to cysteine, ammonia and 2-oxobutanoate. Converts two cysteine molecules to lanthionine and hydrogen sulfide. Can also accept homocysteine as substrate. Specificity depends on the levels of the endogenous substrates. Generates the endogenous signaling molecule hydrogen sulfide (H2S), and so contributes to the regulation of blood pressure. Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target protei [...] 9606.ENSP00000359978 HHLA3 121 HERV-H LTR-associating 3 9606.ENSP00000359982 ANKRD13C 541 Ankyrin repeat domain-containing protein 13C; Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER; Ankyrin repeat domain containing 9606.ENSP00000359988 SRSF11 484 Serine/arginine-rich splicing factor 11; May function in pre-mRNA splicing; RNA binding motif containing 9606.ENSP00000359990 LRRC40 602 Leucine-rich repeat-containing protein 40; Leucine rich repeat containing 40 9606.ENSP00000359991 PGAM1 254 Phosphoglycerate mutase 1; Interconversion of 3- and 2-phosphoglycerate with 2,3- bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity 9606.ENSP00000360002 GSTA4 222 Glutathione S-transferase A4; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. This isozyme has a high catalytic efficiency with 4-hydroxyalkenals such as 4- hydroxynonenal (4-HNE); Soluble glutathione S-transferases 9606.ENSP00000360017 ZNF280C 737 Zinc finger protein 280C; May function as a transcription factor 9606.ENSP00000360020 DIRAS3 229 GTP-binding protein Di-Ras3; RAS type GTPase family 9606.ENSP00000360021 GNG12 72 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000360025 GADD45A 165 Growth arrest and DNA damage-inducible protein GADD45 alpha; In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity (By similarity). Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase; Belongs to the GADD45 family 9606.ENSP00000360028 GSTA5 222 Soluble glutathione S-transferases; Belongs to the GST superfamily. Alpha family 9606.ENSP00000360034 SERBP1 408 Plasminogen activator inhibitor 1 RNA-binding protein; May play a role in the regulation of mRNA stability. Binds to the 3'-most 134 nt of the SERPINE1/PAI1 mRNA, a region which confers cyclic nucleotide regulation of message decay 9606.ENSP00000360035 PPP1R3D 299 Protein phosphatase 1 regulatory subunit 3D; Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis; Protein phosphatase 1 regulatory subunits 9606.ENSP00000360046 C1orf141 400 Uncharacterized protein C1orf141; Chromosome 1 open reading frame 141 9606.ENSP00000360054 PHACTR3 559 Phosphatase and actin regulator 3; Protein phosphatase 1 regulatory subunits; Phosphatase and actin regulators 9606.ENSP00000360058 FRAT2 233 GSK-3-binding protein FRAT2; Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3 9606.ENSP00000360060 FRAT1 279 Proto-oncogene FRAT1; Positively regulates the Wnt signaling pathway by stabilizing beta-catenin through the association with GSK-3. May play a role in tumor progression and collaborate with PIM1 and MYC in lymphomagenesis 9606.ENSP00000360065 WDR78 848 WD repeat-containing protein 78; WD repeat domain containing 9606.ENSP00000360069 ZNF831 1677 Zinc finger protein 831 9606.ENSP00000360076 SGIP1 828 SH3-containing GRB2-like protein 3-interacting protein 1; May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis 9606.ENSP00000360107 EFHC1 640 EF-hand domain-containing protein 1; Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration. May enhance calcium influx through CACNA1E and stimulate programmed cell death; EF-hand domain containing 9606.ENSP00000360108 DNAJC6 970 Putative tyrosine-protein phosphatase auxilin; Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity); C2 tensin-type domain containing 9606.ENSP00000360112 RAVER2 678 Ribonucleoprotein PTB-binding 2; May bind single-stranded nucleic acids; RNA binding motif containing 9606.ENSP00000360116 UBE2U 226 Ubiquitin-conjugating enzyme E2 U; Catalyzes the covalent attachment of ubiquitin to other proteins; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000360120 ROR1 937 Inactive tyrosine-protein kinase transmembrane receptor ROR1; Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo. Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling. In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells; I-set domain containing 9606.ENSP00000360124 PGM1 580 Phosphoglucomutase-1; This enzyme participates in both the breakdown and synthesis of glucose; Belongs to the phosphohexose mutase family 9606.ENSP00000360129 EFCAB7 629 EF-hand calcium-binding domain-containing protein 7; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia; EF-hand domain containing 9606.ENSP00000360133 ITGB3BP 216 Centromere protein R; Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF- kappa-B subunit, possibly by interfering with the transactivatio [...] 9606.ENSP00000360138 LCOR 433 Ligand-dependent corepressor; May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3' (By similarity). Repressor of ligand-dependent transcription activation by target nuclear receptors. Repressor of ligand- dependent transcription activation by ESR1, ESR2, NR3C1, PGR, RARA, RARB, RARG, RXRA and VDR 9606.ENSP00000360141 GNAS 1037 Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP. GNAS functions downstream of several GPCRs, including beta-adrenergic receptors. XLas isoforms interact with the same set of receptors as GNAS isoforms (By similarity) 9606.ENSP00000360147 XPNPEP2 674 Xaa-Pro aminopeptidase 2; Membrane-bound metalloprotease which catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro. May play a role in the metabolism of the vasodilator bradykinin; Belongs to the peptidase M24B family 9606.ENSP00000360149 ALG6 507 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol; Alpha-1,3-glucosyltransferases 9606.ENSP00000360154 OCRL 901 Inositol polyphosphate 5-phosphatase OCRL-1; Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly; Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family 9606.ENSP00000360157 FOXD3 478 Forkhead box protein D3; Binds to the consensus sequence 5'-A[AT]T[AG]TTTGTTT-3' and acts as a transcriptional repressor. Also acts as a transcriptional activator. Promotes development of neural crest cells from neural tube progenitors. Restricts neural progenitor cells to the neural crest lineage while suppressing interneuron differentiation. Required for maintenance of pluripotent cells in the pre-implantation and peri-implantation stages of embryogenesis; Forkhead boxes 9606.ENSP00000360158 PKHD1 4074 Fibrocystin; May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation 9606.ENSP00000360162 SMARCA1 1070 Probable global transcription activator SNF2L1; Energy-transducing component of NURF (nucleosome- remodeling factor) and CERF (CECR2-containing-remodeling factor) complexes. Both complexes facilitate the perturbation of chromatin structure in an ATP-dependent manner. Potentiates neurite outgrowth. May be involved in brain development by regulating En-1 and En-2 expression. May be involved in the development of luteal cells; Myb/SANT domain containing 9606.ENSP00000360165 ACTRT1 376 Actin related protein T1 9606.ENSP00000360166 PRR32 298 Proline-rich protein 32; Proline rich 32 9606.ENSP00000360167 DCAF12L1 463 DDB1- and CUL4-associated factor 12-like protein 1; DDB1 and CUL4 associated factor 12 like 1; WD repeat domain containing 9606.ENSP00000360170 ANGPTL3 460 Angiopoietin-related protein 3; Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism. Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LP [...] 9606.ENSP00000360181 SH2D1A 128 SH2 domain-containing protein 1A; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2. However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1. Positively regulates CD244/2B4- and CD84- mediated natural killer (NK) cell functions. C [...] 9606.ENSP00000360183 STX16 325 Syntaxin-16; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network; Belongs to the syntaxin family 9606.ENSP00000360184 TM9SF3 589 Transmembrane 9 superfamily member 3 9606.ENSP00000360190 DEFB110 67 Beta-defensin 110; Has antibacterial activity; Defensins, beta 9606.ENSP00000360191 APCDD1L 501 Protein APCDD1-like; APC down-regulated 1 like 9606.ENSP00000360195 KANK4 995 KN motif and ankyrin repeat domain-containing protein 4; May be involved in the control of cytoskeleton formation by regulating actin polymerization; Ankyrin repeat domain containing 9606.ENSP00000360200 INADL 1801 InaD-like protein; Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane. May regulate protein targeting, cell polarity and integrity of tight junctions. May regulate the surface expression and/or function of ASIC3 in sensory neurons. May recruit ARHGEF18 to apical cell-cell boundaries 9606.ENSP00000360210 C20orf85 137 Uncharacterized protein C20orf85; Chromosome 20 open reading frame 85 9606.ENSP00000360214 OPALIN 141 Opalin; Oligodendrocytic myelin paranodal and inner loop protein 9606.ENSP00000360215 ZBP1 429 Z-DNA-binding protein 1; Participates in the detection by the host's innate immune system of DNA from viral, bacterial or even host origin. Plays a role in host defense against tumors and pathogens. Acts as a cytoplasmic DNA sensor which, when activated, induces the recruitment of TBK1 and IRF3 to its C-terminal region and activates the downstream interferon regulatory factor (IRF) and NF-kappa B transcription factors, leading to type-I interferon production. ZBP1-induced NF-kappaB activation probably involves the recruitment of the RHIM containing kinases RIPK1 and RIPK3 (By similarity) 9606.ENSP00000360216 DNTT 509 DNA nucleotidylexotransferase; Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells 9606.ENSP00000360217 RHAG 409 Ammonium transporter Rh type A; Associated with rhesus blood group antigen expression. May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. Involved in ammonia transport across the erythrocyte membrane. Seems to act in monovalent cation transport; Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily 9606.ENSP00000360231 NFIA 554 Nuclear factor 1 A-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication 9606.ENSP00000360240 GLYATL3 288 Glycine N-acyltransferase-like protein 3; Acyltransferase which transfers the acyl group to the N- terminus of glycine 9606.ENSP00000360242 XIAP 497 E3 ubiquitin-protein ligase XIAP; Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis. Acts as a direct caspase inhibitor. Directly bind to the active site pocket of CASP3 and CASP7 and obstructs substrate entry. Inactivates CASP9 by keeping it in a monomeric, inactive state. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and the target proteins for its E3 ubiquitin-protein ligas [...] 9606.ENSP00000360244 C1orf87 546 Uncharacterized protein C1orf87; Chromosome 1 open reading frame 87 9606.ENSP00000360247 CYP2J2 502 Cytochrome P450 2J2; This enzyme metabolizes arachidonic acid predominantly via a NADPH-dependent olefin epoxidation to all four regioisomeric cis-epoxyeicosatrienoic acids. One of the predominant enzymes responsible for the epoxidation of endogenous cardiac arachidonic acid pools; Cytochrome P450 family 2 9606.ENSP00000360250 ENTPD1 522 Ectonucleoside triphosphate diphosphohydrolase 1; In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well; Belongs to the GDA1/CD39 NTPase family 9606.ENSP00000360252 HOOK1 728 Protein Hook homolog 1; Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) 9606.ENSP00000360255 OPN5 354 Opsin-5; Opsin receptors 9606.ENSP00000360262 FGGY 575 FGGY carbohydrate kinase domain containing; Belongs to the FGGY kinase family 9606.ENSP00000360266 JUN 331 Transcription factor AP-1; Transcription factor that recognizes and binds to the enhancer heptamer motif 5'-TGA[CG]TCA-3'. Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells. Binds to the USP28 promoter in colorectal cancer (CRC) cells; Basic leucine zipper proteins 9606.ENSP00000360268 ALDH18A1 795 Delta-1-pyrroline-5-carboxylate synthase; Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine 9606.ENSP00000360269 TACSTD2 323 Tumor-associated calcium signal transducer 2; May function as a growth factor receptor; Belongs to the EPCAM family 9606.ENSP00000360270 OMA1 524 Metalloendopeptidase OMA1, mitochondrial; Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion. May also cleave UQCC3 under these conditions. Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions; Belongs to the peptidase [...] 9606.ENSP00000360280 DAB1 555 Disabled homolog 1; Adapter molecule functioning in neural development. May regulate SIAH1 activity 9606.ENSP00000360281 C8B 591 Complement component C8 beta chain; Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells; Belongs to the complement C6/C7/C8/C9 family 9606.ENSP00000360290 PRKAA2 552 5'-AMP-activated protein kinase catalytic subunit alpha-2; Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts a [...] 9606.ENSP00000360293 SORBS1 1292 Sorbin and SH3 domain-containing protein 1; Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin- stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity) 9606.ENSP00000360296 PPAP2B 311 Phospholipid phosphatase 3; Catalyzes the conversion of phosphatidic acid (PA) to diacylglycerol (DG). In addition it hydrolyzes lysophosphatidic acid (LPA), ceramide-1-phosphate (C-1-P) and sphingosine-1- phosphate (S-1-P). The relative catalytic efficiency is LPA = PA > C-1-P > S-1-P. May be involved in cell adhesion and in cell-cell interactions 9606.ENSP00000360299 GPR110 910 Adhesion G-protein coupled receptor F1; Orphan receptor; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000360305 PDLIM1 329 PDZ and LIM domain protein 1; Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton. Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity); LIM domain containing 9606.ENSP00000360310 SPO11 396 Meiotic recombination protein SPO11; Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2 9606.ENSP00000360312 BSND 320 Barttin; Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter 9606.ENSP00000360315 TMEM61 210 Transmembrane protein 61 9606.ENSP00000360316 DHCR24 516 Delta(24)-sterol reductase; Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis; Belongs to the FAD-binding oxidoreductase/transferase type 4 family 9606.ENSP00000360317 CYP2C8 490 Cytochrome P450 2C8; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. In the epoxidation of arachidonic acid it generates only 14,15- and 11,12-cis-epoxyeicosatrienoic acids. It is the principal enzyme responsible for the metabolism the anti- cancer drug paclitaxel (taxol) 9606.ENSP00000360320 C1orf177 418 Lymphocyte expansion molecule; Chromosome 1 open reading frame 177 9606.ENSP00000360323 TTC22 569 Tetratricopeptide repeat domain containing 9606.ENSP00000360327 PARS2 475 Probable proline--tRNA ligase, mitochondrial; prolyl-tRNA synthetase 2, mitochondrial; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000360329 TTC4 387 Tetratricopeptide repeat domain containing; Belongs to the TTC4 family 9606.ENSP00000360360 CT47B1 299 Cancer/testis antigen family 47, member B1 9606.ENSP00000360365 MCTS1 182 Malignant T-cell-amplified sequence 1; Anti-oncogene that plays a role in cell cycle regulation; decreases cell doubling time and anchorage-dependent growth; shortens the duration of G1 transit time and G1/S transition. When constitutively expressed, increases CDK4 and CDK6 kinases activity and CCND1/cyclin D1 protein level, as well as G1 cyclin/CDK complex formation. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated diss [...] 9606.ENSP00000360366 ACOT11 607 Acyl-coenzyme A thioesterase 11; Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates 9606.ENSP00000360371 SSBP3 388 Single-stranded DNA-binding protein 3; May be involved in transcription regulation of the alpha 2(I) collagen gene where it binds to the single-stranded polypyrimidine sequences in the promoter region 9606.ENSP00000360372 CYP2C19 490 Cytochrome P450 2C19; Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine; Belongs to the cytochrome P450 family 9606.ENSP00000360376 FAM209B 171 Protein FAM209B; Family with sequence similarity 209 member B 9606.ENSP00000360379 FAM209A 171 Protein FAM209A; Family with sequence similarity 209 member A 9606.ENSP00000360381 CDCP2 449 CUB domain containing protein 2 9606.ENSP00000360398 SLC25A27 323 Mitochondrial uncoupling protein 4; UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat. May play a role in thermoregulatory heat production and metabolism in brain; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000360411 LDLRAD1 205 Low density lipoprotein receptor class A domain containing 1 9606.ENSP00000360412 NOC3L 800 Nucleolar complex protein 3 homolog; May be required for adipogenesis; Armadillo-like helical domain containing 9606.ENSP00000360421 LRRC42 428 Leucine-rich repeat-containing protein 42; Leucine rich repeat containing 42; Belongs to the LRRC42 family 9606.ENSP00000360423 CACNA1B 2339 Voltage-dependent N-type calcium channel subunit alpha-1B; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin- IIIA (omega-Aga-IIIA). Th [...] 9606.ENSP00000360425 RCAN2 243 Calcipressin-2; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development; Belongs to the RCAN family 9606.ENSP00000360431 PLCE1 2302 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine- exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation; C2 domain containing phospholipases 9606.ENSP00000360436 ENPP5 477 Ectonucleotide pyrophosphatase/phosphodiesterase family member 5; May play a role in neuronal cell communication. Lacks nucleotide pyrophosphatase and lysopholipase D activity (By similarity); Belongs to the nucleotide pyrophosphatase/phosphodiesterase family 9606.ENSP00000360437 FAM210B 192 Protein FAM210B, mitochondrial; Plays a role in erythroid differentiation. Involved in cell proliferation and tumor cell growth suppression. Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner; Belongs to the FAM210 family 9606.ENSP00000360441 RHOXF2 288 Rhox homeobox family member 2; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis; PRD class homeoboxes and pseudogenes 9606.ENSP00000360455 RHOXF2B 288 Rhox homeobox family member 2B; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis; Belongs to the paired-like homeobox family. PEPP subfamily 9606.ENSP00000360464 NKAP 415 NF-kappa-B-activating protein; Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF-kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter; Belongs to the NKAP family 9606.ENSP00000360472 LGI1 557 Leucine-rich glioma-inactivated protein 1; Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival 9606.ENSP00000360473 PFDN4 134 Prefoldin subunit 4; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Belongs to the prefoldin subunit beta family 9606.ENSP00000360475 ARRDC1 433 Arrestin domain-containing protein 1; Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates. Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles. More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles. By participating to the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway; Belongs to the arrestin family 9606.ENSP00000360483 NDC1 674 Nucleoporin NDC1; Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane 9606.ENSP00000360485 AKAP14 197 A-kinase anchor protein 14; Binds to type II regulatory subunits of protein kinase A and anchors/targets them; A-kinase anchoring proteins 9606.ENSP00000360488 FRA10AC1 315 Protein FRA10AC1; FRA10A associated CGG repeat 1; Spliceosomal C complex 9606.ENSP00000360492 NDUFA1 70 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000360493 RUNX2 521 Runt-related transcription factor 2; Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediat [...] 9606.ENSP00000360497 RNF113A 343 RING finger protein 113A; Spliceosomal Bact complex; Ring finger proteins 9606.ENSP00000360498 MRPL41 137 39S ribosomal protein L41, mitochondrial; Component of the mitochondrial ribosome large subunit. Also involved in apoptosis and cell cycle. Enhances p53/TP53 stability, thereby contributing to p53/TP53-induced apoptosis in response to growth-inhibitory condition. Enhances p53/TP53 translocation to the mitochondria. Has the ability to arrest the cell cycle at the G1 phase, possibly by stabilizing the CDKN1A and CDKN1B (p27Kip1) proteins 9606.ENSP00000360500 DMRTB1 342 Doublesex- and mab-3-related transcription factor B1; DMRT like family B with proline rich C-terminal 1; Belongs to the DMRT family 9606.ENSP00000360502 PDE6C 858 Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP; Phosphodiesterases 9606.ENSP00000360515 SUPT3H 328 Transcription initiation protein SPT3 homolog; Probable transcriptional activator; SAGA complex 9606.ENSP00000360522 RBP4 201 Retinol-binding protein 4; Retinol-binding protein that mediates retinol transport in blood plasma. Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane; Belongs to the calycin superfamily. Lipocalin family 9606.ENSP00000360525 MAGOH 146 Protein mago nashi homolog; Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby infl [...] 9606.ENSP00000360526 ZNF217 1048 Zinc finger protein 217; Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'; Zinc fingers C2H2-type 9606.ENSP00000360530 NSMF 530 NMDA receptor synaptonuclear signaling and neuronal migration factor; Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells 9606.ENSP00000360532 CDC5L 802 Cell division cycle 5-like protein; DNA-binding protein involved in cell cycle control. May act as a transcription activator. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR); Myb/SANT domain containing 9606.ENSP00000360538 FFAR4 377 Free fatty acid receptor 4; Receptor for medium and long-chain free fatty acids (FFAs). Signals via a G(q)/G(11)-coupled pathway. Acts as a receptor for omega-3 fatty acids and mediates robust anti- inflammatory effects, particularly in macrophages and fat cells. The anti-inflammatory effects involve inhibition of TAK1 through a beta-arrestin 2 (ARRB2)/TAB1-dependent effect, but independent of the G(q)/G(11)-coupled pathway. Mediates potent insulin sensitizing and antidiabetic effects by repressing macrophage- induced tissue inflammation. May mediate the taste of fatty acids. Mediates [...] 9606.ENSP00000360540 CEP55 464 Centrosomal protein of 55 kDa; Plays a role in mitotic exit and cytokinesis. Recruits PDCD6IP and TSG101 to midbody during cytokinesis. Required for successful completion of cytokinesis. Not required for microtubule nucleation. Plays a role in the development of the brain and kidney 9606.ENSP00000360541 CPT2 658 Carnitine O-palmitoyltransferase 2, mitochondrial; Carnitine palmitoyltransferase 2 9606.ENSP00000360552 TSHZ2 1034 Teashirt homolog 2; Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential); ZF class homeoboxes and pseudogenes 9606.ENSP00000360560 TCTE1 501 T-complex-associated-testis-expressed 1; Dynein regulatory complex 9606.ENSP00000360561 ENTPD8 495 Ectonucleoside triphosphate diphosphohydrolase 8; Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity. Ectonucleoside NTPDases catalyze the hydrolysis of gamma- and beta-phosphate residues of nucleotides, playing a central role in concentration of extracellular nucleotides. Has activity toward ATP, ADP, UTP and UDP, but not toward AMP 9606.ENSP00000360569 SCP2 547 Non-specific lipid-transfer protein; Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis 9606.ENSP00000360576 NDOR1 606 NADPH-dependent diflavin oxidoreductase 1; Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins (By similarity). Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Transfers electrons from NADPH to the Fe/S cluster of CIAPIN1; Belongs to the NADPH-dependent diflavin oxidoreductase NDOR1 family 9606.ENSP00000360577 ECHDC2 292 Enoyl-CoA hydratase domain-containing protein 2, mitochondrial; enoyl-CoA hydratase domain containing 2; Belongs to the enoyl-CoA hydratase/isomerase family 9606.ENSP00000360583 ZYG11A 759 Protein zyg-11 homolog A; Probably acts as target recruitment subunit in an E3 ubiquitin ligase complex ZYGA-CUL2-elongin BC; Armadillo-like helical domain containing 9606.ENSP00000360593 COA7 231 Cytochrome c oxidase assembly factor 7; Required for assembly of mitochondrial respiratory chain complex I and complex IV 9606.ENSP00000360597 LRRC26 334 Leucine-rich repeat-containing protein 26; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Required for the conversion of BK alpha channels from a high-voltage to a low- voltage activated channel type in non-excitable cells. These are characterized by negative membrane voltages and constant low levels of calcium 9606.ENSP00000360608 GRIN1 943 Glutamate receptor ionotropic, NMDA 1; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR1/GRIN1 subfamily 9606.ENSP00000360609 HSP90AB1 724 Heat shock protein HSP 90-beta; Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a range of client protein classes via its interacti [...] 9606.ENSP00000360613 UBE2A 152 Ubiquitin-conjugating enzyme E2 A; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Requir [...] 9606.ENSP00000360623 ORC1 861 Origin recognition complex subunit 1; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication; Belongs to the ORC1 family 9606.ENSP00000360626 KCNG1 513 Potassium voltage-gated channel subfamily G member 1; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1; Belongs to the potassium channel family. G (TC 1.A.1.2) subfamily. Kv6.1/KCNG1 sub-subfamily 9606.ENSP00000360635 DPP7 492 Dipeptidyl peptidase 2; Plays an important role in the degradation of some oligopeptides; DASH family 9606.ENSP00000360642 CC2D1B 858 Coiled-coil and C2 domain-containing protein 1B; Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells; C2 domain containing 9606.ENSP00000360644 DPM1 260 Dolichol-phosphate mannosyltransferase subunit 1; Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O- mannosylation of proteins; catalytic subunit of the dolichol- phosphate mannose (DPM) synthase complex; Glycosyltransferase family 2 9606.ENSP00000360645 MAN1B1 699 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2) 9606.ENSP00000360660 NPDC1 325 Neural proliferation differentiation and control protein 1; Suppresses oncogenic transformation in neural and non- neural cells and down-regulates neural cell proliferation. Might be involved in transcriptional regulation (By similarity); Belongs to the NPDC1/cab-1 family 9606.ENSP00000360664 BTF3L4 158 Basic transcription factor 3 like 4; Belongs to the NAC-beta family 9606.ENSP00000360671 SLC25A5 298 ADP/ATP translocase 2; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation; Solute carriers 9606.ENSP00000360672 PARD6B 372 Partitioning defective 6 homolog beta; Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins; Belongs to the PAR6 family 9606.ENSP00000360676 KTI12 354 KTI12 chromatin associated homolog 9606.ENSP00000360682 C9orf142 204 Protein PAXX; Involved in non-homologous end joining (NHEJ), a major pathway to repair double-strand breaks in DNA. May act as a scaffold required to stabilize the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery 9606.ENSP00000360683 PTPN1 435 Tyrosine-protein phosphatase non-receptor type 1; Tyrosine-protein phosphatase which acts as a regulator of endoplasmic reticulum unfolded protein response. Mediates dephosphorylation of EIF2AK3/PERK; inactivating the protein kinase activity of EIF2AK3/PERK. May play an important role in CKII- and p60c-src-induced signal transduction cascades. May regulate the EFNA5-EPHA3 signaling pathway which modulates cell reorganization and cell-cell repulsion. May also regulate the hepatocyte growth factor receptor signaling pathway through dephosphorylation of MET; Protein tyrosine phosphatases, [...] 9606.ENSP00000360687 PTGDS 190 Prostaglandin-H2 D-isomerase; Catalyzes the conversion of PGH2 to PGD2, a prostaglandin involved in smooth muscle contraction/relaxation and a potent inhibitor of platelet aggregation. Involved in a variety of CNS functions, such as sedation, NREM sleep and PGE2-induced allodynia, and may have an anti-apoptotic role in oligodendrocytes. Binds small non-substrate lipophilic molecules, including biliverdin, bilirubin, retinal, retinoic acid and thyroid hormone, and may act as a scavenger for harmful hydrophopic molecules and as a secretory retinoid and thyroid hormone transporter. Possib [...] 9606.ENSP00000360688 TXNDC12 172 Thioredoxin domain-containing protein 12; Possesses significant protein thiol-disulfide oxidase activity 9606.ENSP00000360689 TNKS2 1166 Tankyrase-2; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP- ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation. Also mediates poly-ADP-ribosylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination. Mediates poly-ADP-ribosylation of TER [...] 9606.ENSP00000360690 LONRF3 759 LON peptidase N-terminal domain and ring finger 3 9606.ENSP00000360696 LCN12 192 Epididymal-specific lipocalin-12; Binds all-trans retinoic acid and may act as a retinoid carrier protein within the epididymis. May play a role in male fertility (By similarity); Lipocalins 9606.ENSP00000360715 TMEM189 270 Transmembrane protein 189 9606.ENSP00000360718 RAB3B 219 Ras-related protein Rab-3B; Protein transport. Probably involved in vesicular traffic (By similarity); RAB, member RAS oncogene GTPases 9606.ENSP00000360727 RABL6 730 Rab-like protein 6; May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000360730 IL13RA1 427 Interleukin-13 receptor subunit alpha-1; Binds with low affinity to interleukin-13 (IL13). Together with IL4RA can form a functional receptor for IL13. Also serves as an alternate accessory protein to the common cytokine receptor gamma chain for interleukin-4 (IL4) signaling, but cannot replace the function of IL2RG in allowing enhanced interleukin-2 (IL2) binding activity; Belongs to the type I cytokine receptor family. Type 5 subfamily 9606.ENSP00000360753 LCN8 152 Epididymal-specific lipocalin-8; May play a role in male fertility. May act as a retinoid carrier protein within the epididymis; Lipocalins 9606.ENSP00000360757 FAM69B 431 Protein FAM69B; Family with sequence similarity 69 member B; Belongs to the FAM69 family 9606.ENSP00000360761 AGPAT2 278 1-acyl-sn-glycerol-3-phosphate acyltransferase beta; Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone; Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family 9606.ENSP00000360762 ANKRD1 319 Ankyrin repeat domain-containing protein 1; May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells; Ankyrin repeat domain containing 9606.ENSP00000360764 EGFL7 273 Epidermal growth factor-like protein 7; Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis 9606.ENSP00000360776 B4GALT5 388 Beta-1,4-galactosyltransferase 5; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids; Beta 4-glycosyltransferases 9606.ENSP00000360777 INPP5E 644 72 kDa inositol polyphosphate 5-phosphatase; Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5- bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates; Phosphoinositide phosphatases 9606.ENSP00000360782 PMPCA 525 Mitochondrial-processing peptidase subunit alpha; Cleaves presequences (transit peptides) from mitochondrial protein precursors; Belongs to the peptidase M16 family 9606.ENSP00000360793 KIF20B 1820 Kinesin-like protein KIF20B; Plus-end-directed motor enzyme that is required for completion of cytokinesis. Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage [...] 9606.ENSP00000360797 CARD9 536 Caspase recruitment domain-containing protein 9; Adapter protein that plays a key role in innate immune response to a number of intracellular pathogens, such as C.albicans and L.monocytogenes. Is at the crossroads of ITAM- tyrosine kinase and the Toll-like receptors (TLR) and NOD2 signaling pathways. Probably controls various innate immune response pathways depending on the intracellular pathogen. In response to L.monocytogenes infection, acts by connecting NOD2 recognition of peptidoglycan to downstream activation of MAP kinases (MAPK) without activating NF-kappa-B. Also involved in a [...] 9606.ENSP00000360798 EPS15 896 Epidermal growth factor receptor substrate 15; Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta- 1 (ITGB1) and transferrin receptor (TFR); internali [...] 9606.ENSP00000360803 DNLZ 178 DNL-type zinc finger protein; May function as a co-chaperone towards HSPA9/mortalin which, by itself, is prone to self-aggregation; Zinc fingers 9606.ENSP00000360806 KCNB1 858 Potassium voltage-gated channel subfamily B member 1; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain. Plays also a role in the regulation of exocytosis independently of its electrical function (By sim [...] 9606.ENSP00000360811 LHX3 402 LIM/homeobox protein Lhx3; Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene, and synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system. Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1; LIM class homeoboxes 9606.ENSP00000360821 UBAC1 405 Ubiquitin-associated domain-containing protein 1; Non-catalytic subunit of the KPC complex that acts as E3 ubiquitin-protein ligase. Required for poly-ubiquitination and proteasome-mediated degradation of CDKN1B during G1 phase of the cell cycle 9606.ENSP00000360822 KCNT1 1235 Potassium channel subfamily T member 1; Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity); Belongs to the potassium channel family. Calcium- activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily 9606.ENSP00000360824 C1orf185 199 Uncharacterized protein C1orf185; Chromosome 1 open reading frame 185 9606.ENSP00000360829 GLT6D1 276 Glycosyltransferase 6 domain containing 1 9606.ENSP00000360850 MRPS2 296 Mitochondrial ribosomal protein S2; Belongs to the universal ribosomal protein uS2 family 9606.ENSP00000360855 SLC16A12 516 Monocarboxylate transporter 12; Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane; Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family 9606.ENSP00000360858 OLFM1 485 Noelin; Contributes to the regulation of axonal growth in the embryonic and adult central nervous system by inhibiting interactions between RTN4R and LINGO1. Inhibits RTN4R-mediated axon growth cone collapse (By similarity). May play an important role in regulating the production of neural crest cells by the neural tube (By similarity). May be required for normal responses to olfactory stimuli (By similarity) 9606.ENSP00000360860 IFIT5 482 Interferon-induced protein with tetratricopeptide repeats 5; Interferon-induced RNA-binding protein involved in the human innate immune response. Has a broad and adaptable RNA structure recognition important for RNA recognition specificity in antiviral defense. Binds precursor and processed tRNAs as well as poly-U-tailed tRNA fragments. Specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs. Single-stranded PPP-RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'-triphosphate group instead, are [...] 9606.ENSP00000360869 IFIT1 478 Interferon-induced protein with tetratricopeptide repeats 1; Interferon-induced antiviral RNA-binding protein that specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single- stranded RNAs and inhibiting expression of viral messenger RNAs. Single-stranded PPP-RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'-triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non-se [...] 9606.ENSP00000360871 FCN1 326 Ficolin-1; Extracellular lectin functioning as a pattern- recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8. Binds preferentially to 9-O-acetylated 2-6- linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage 9606.ENSP00000360874 IFIT1B 474 Interferon induced protein with tetratricopeptide repeats 1B 9606.ENSP00000360882 COL5A1 1838 Collagen alpha-1(V) chain; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin; Collagens 9606.ENSP00000360883 IFIT3 490 Interferon-induced protein with tetratricopeptide repeats 3; IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS- mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exihibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1 [...] 9606.ENSP00000360891 IFIT2 472 Interferon-induced protein with tetratricopeptide repeats 2; IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2'-O-methylation of the 5' cap. The ribose 2'-O-methylation would provide a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Viruses evolved several ways to evade this restriction system such as encoding their own 2'-O-methylase for their mRNAs or by stealing host cap containing the 2'-O- methylation (cap snatching mechanism). Binds AU-rich viral RNAs, with or without 5' triphosphorylat [...] 9606.ENSP00000360899 BEND5 421 BEN domain-containing protein 5; Acts as a transcriptional repressor; BEN domain containing 9606.ENSP00000360905 AGBL4 503 Cytosolic carboxypeptidase 6; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes polyglutamates from the carboxy-terminus of target proteins such as MYLK. Mediates deglutamylation of CGAS/MB21D1, regulating the antiviral activity of CGAS/MB21D1. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed b [...] 9606.ENSP00000360913 SPATA6 488 Spermatogenesis-associated protein 6; Required for formation of the sperm connecting piece during spermiogenesis. Sperm connecting piece is essential for linking the developing flagellum to the head during late spermiogenesis. May be involved in myosin-based microfilament transport through interaction with myosin subunits; Belongs to the SPATA6 family 9606.ENSP00000360916 VAV2 878 Guanine nucleotide exchange factor VAV2; Guanine nucleotide exchange factor for the Rho family of Ras-related GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity); Pleckstrin homology domain containing 9606.ENSP00000360918 CH25H 272 Cholesterol 25-hydroxylase; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element [...] 9606.ENSP00000360922 STAU1 577 Double-stranded RNA-binding protein Staufen homolog 1; Binds double-stranded RNA (regardless of the sequence) and tubulin. May play a role in specific positioning of mRNAs at given sites in the cell by cross-linking cytoskeletal and RNA components, and in stimulating their translation at the site; Protein phosphatase 1 regulatory subunits 9606.ENSP00000360938 SARDH 918 Sarcosine dehydrogenase, mitochondrial; Sarcosine dehydrogenase; Belongs to the GcvT family 9606.ENSP00000360939 CMPK1 228 UMP-CMP kinase; Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity; Belongs to the adenylate kinase family. UMP-CMP kinase subfamily 9606.ENSP00000360944 STIL 1288 SCL-interrupting locus protein; Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1. Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is ess [...] 9606.ENSP00000360958 CYP4A22 519 Cytochrome P450 4A22; Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis; Cytochrome P450 family 4 9606.ENSP00000360961 CT83 113 Kita-kyushu lung cancer antigen 1; Cancer/testis antigen 83 9606.ENSP00000360966 SLC2A6 507 Solute carrier family 2, facilitated glucose transporter member 6; Facilitative glucose transporter; binds cytochalasin B with low affinity; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily 9606.ENSP00000360968 CYP4X1 509 Cytochrome P450 family 4 subfamily X member 1 9606.ENSP00000360973 AGTR2 363 Type-2 angiotensin II receptor; Receptor for angiotensin II. Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation 9606.ENSP00000360985 ARFGEF2 1785 Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma [...] 9606.ENSP00000360988 LUZP4 313 Leucine zipper protein 4; Export adapter involved in mRNA nuclear export in cancer cells. Binds and enhances the RNA-binding activity of the nuclear RNA export factor NXF1. Can restore mRNA export function in cells compromised by loss of mRNA export adapters 9606.ENSP00000360991 CYP4B1 512 Cytochrome P450 4B1; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics 9606.ENSP00000360994 STAMBPL1 436 AMSH-like protease; Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains; Belongs to the peptidase M67C family 9606.ENSP00000360997 ADAMTS13 1427 A disintegrin and metalloproteinase with thrombospondin motifs 13; Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000360998 ANKRD22 191 Ankyrin repeat domain-containing protein 22; Ankyrin repeat domain containing 9606.ENSP00000361001 EFCAB14 495 EF-hand calcium-binding domain-containing protein 14; EF-hand calcium binding domain 14 9606.ENSP00000361004 IL13RA2 380 Interleukin-13 receptor subunit alpha-2; Binds as a monomer with high affinity to interleukin-13 (IL13), but not to interleukin-4 (IL4); CD molecules 9606.ENSP00000361007 LIPJ 366 Lipase family member J; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000361009 PREX1 1659 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein; Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils; PDZ domain containing 9606.ENSP00000361010 REXO4 422 REX4 homolog, 3'-5' exonuclease; Exonucleases 9606.ENSP00000361014 MKNK1 465 MAP kinase-interacting serine/threonine-protein kinase 1; May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7- methylguanosine-containing mRNA cap; Mitogen-activated protein kinase-activated protein kinases 9606.ENSP00000361021 PTEN 403 Phosphatase and tensin homolog; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3- phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4. The lipid phosphatase activity is critical for its tumor [...] 9606.ENSP00000361025 STKLD1 680 Serine/threonine kinase-like domain-containing protein STKLD1; Serine/threonine kinase like domain containing 1; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily 9606.ENSP00000361027 AMOT 1084 Angiomotin; Plays a central role in tight junction maintenance via the complex formed with ARHGAP17, which acts by regulating the uptake of polarity proteins at tight junctions. Appears to regulate endothelial cell migration and tube formation. May also play a role in the assembly of endothelial cell-cell junctions; Belongs to the angiomotin family 9606.ENSP00000361032 SURF2 256 Surfeit 2; Belongs to the SURF2 family 9606.ENSP00000361036 LHFPL1 220 LHFPL tetraspan subfamily member 1 9606.ENSP00000361042 SURF1 300 Surfeit locus protein 1; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly 9606.ENSP00000361043 RAD54L 747 DNA repair and recombination protein RAD54-like; Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells 9606.ENSP00000361048 LURAP1 239 Leucine rich adaptor protein 1; Acts as an activator of the canonical NF-kappa-B pathway and drive the production of proinflammatory cytokines. Promotes the antigen (Ag)-presenting and priming function of dendritic cells via the canonical NF-kappa-B pathway. In concert with MYO18A and CDC42BPA/CDC42BPB, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Activates CDC42BPA/CDC42BPB and targets it to actomyosin through its interaction with MYO18A, leading to MYL9/MLC2 phosphorylation and MYH9/MYH10-dependent actomyosin assembly [...] 9606.ENSP00000361057 SURF4 269 Surfeit locus protein 4; May play a role in the maintenance of the architecture of the endoplasmic reticulum-Golgi intermediate compartment and of the Golgi; Belongs to the SURF4 family 9606.ENSP00000361060 POMGNT1 748 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; Participates in O-mannosyl glycosylation. May be responsible for the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O- Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins. Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity; Belongs to the glycosyltransferase 13 family 9606.ENSP00000361064 MINPP1 487 Multiple inositol polyphosphate phosphatase 1; Acts as a phosphoinositide 5- and phosphoinositide 6- phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Also acts as a 2,3-bisphosphoglycerate 3-phosphatase, by mediating the dephosphorylation of 2,3-bisphosphoglycerate (2,3-BPG) to produce phospho-D-glycerate without formation of 3- phosphoglycerate. May play a role in bone development (endochondral ossification). May play a role in the transition of chondrocytes from proliferation to hypertrophy (By similarity); Belongs [...] 9606.ENSP00000361066 NCOA3 1424 Nuclear receptor coactivator 3; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via i [...] 9606.ENSP00000361072 TSPAN1 241 Tetraspanin-1; Tetraspanin 1; Tetraspanins 9606.ENSP00000361076 RPL7A 266 Ribosomal protein L7a 9606.ENSP00000361083 ADIRF 76 Adipogenesis regulatory factor; Plays a role in fat cell development; promotes adipogenic differentiation and stimulates transcription initiation of master adipogenesis factors like PPARG and CEBPA at early stages of preadipocyte differentiation. Its overexpression confers resistance to the anticancer chemotherapeutic drug cisplatin 9606.ENSP00000361084 MRPL14 145 39S ribosomal protein L14, mitochondrial; Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation (Probable); Mitochondrial ribosomal proteins 9606.ENSP00000361087 SNCG 127 Gamma-synuclein; Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases (By similarity). May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway (By similarity); Belongs to the synuclein family 9606.ENSP00000361092 SURF6 361 Surfeit locus protein 6; Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. May represent a nucleolar constitutive protein involved in ribosomal biosynthesis or assembly (By similarity) 9606.ENSP00000361095 TMEM69 247 Transmembrane protein 69 9606.ENSP00000361097 MMRN2 949 Multimerin-2; Inhibits endothelial cells motility and acts as a negative regulator of angiogenesis; it downregulates KDR activation by binding VEGFA; EMI domain containing 9606.ENSP00000361107 BMPR1A 532 Bone morphogenetic protein receptor type-1A; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily 9606.ENSP00000361110 GBGT1 347 Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1; Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens; Blood group antigens 9606.ENSP00000361112 CHRDL1 458 Chordin-like protein 1; Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior s [...] 9606.ENSP00000361120 RALGDS 914 Ral guanine nucleotide dissociation stimulator; Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap 9606.ENSP00000361140 AKR1A1 325 Alcohol dehydrogenase [NADP(+)]; Catalyzes the NADPH-dependent reduction of a variety of aromatic and aliphatic aldehydes to their corresponding alcohols. Catalyzes the reduction of mevaldate to mevalonic acid and of glyceraldehyde to glycerol. Has broad substrate specificity. In vitro substrates include succinic semialdehyde, 4- nitrobenzaldehyde, 1,2-naphthoquinone, methylglyoxal, and D- glucuronic acid. Plays a role in the activation of procarcinogens, such as polycyclic aromatic hydrocarbon trans-dihydrodiols, and in the metabolism of various xenobiotics and drugs, including the an [...] 9606.ENSP00000361141 OPN4 489 Melanopsin; Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all- trans retinal back to 11-cis retinal (By similarity); Belongs to the G-protein coupled receptor 1 family. Opsin subfamily 9606.ENSP00000361143 TMEM164 297 Transmembrane protein 164; Belongs to the TMEM164 family 9606.ENSP00000361151 CEL 756 Bile salt-activated lipase; Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides; Belongs to the type-B carboxylesterase/lipase family 9606.ENSP00000361158 TESK2 571 Dual specificity testis-specific protein kinase 2; Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at 'Ser-3'. May play an important role in spermatogenesis 9606.ENSP00000361160 CCSER2 1047 Coiled-coil serine rich protein 2 9606.ENSP00000361162 TOE1 510 Target of EGR1 protein 1; Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing 9606.ENSP00000361170 MUTYH 546 Adenine DNA glycosylase; Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2- OH-A DNA glycosylase activities 9606.ENSP00000361173 KCNE1L 142 Potassium voltage-gated channel subfamily E regulatory beta subunit 5; Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1 9606.ENSP00000361177 LRIT1 623 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1; Possible role in phototransduction; Fibronectin type III domain containing 9606.ENSP00000361180 GTF3C5 526 General transcription factor 3C polypeptide 5; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters; General transcription factors 9606.ENSP00000361186 TP53RK 253 TP53-regulating kinase; Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity). Atypical protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may therefore p [...] 9606.ENSP00000361199 C10orf99 81 Protein GPR15L; Chemotactic factor that mediates lymphocytes recruitement to epithelia through binding and activation of the G- protein coupled receptor GPR15. May be a tumor suppressor; together with SUSD2 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest 9606.ENSP00000361202 IRS4 1257 Insulin receptor substrate 4; Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kina [...] 9606.ENSP00000361206 MRPS18A 196 Mitochondrial ribosomal protein S18A; Belongs to the bacterial ribosomal protein bS18 family. Mitochondrion-specific ribosomal protein mL66 subfamily 9606.ENSP00000361207 GHITM 345 Growth hormone-inducible transmembrane protein; Required for the mitochondrial tubular network and cristae organization. Involved in apoptotic release of cytochrome c; Transmembrane BAX inhibitor motif containing 9606.ENSP00000361214 NRG3 696 Pro-neuregulin-3, membrane-bound isoform; Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes; Belongs to the neuregulin family 9606.ENSP00000361219 GTF3C4 822 General transcription factor 3C polypeptide 4; Essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA, tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin. Has histone acetyltransferase activity (HAT) with unique specificity for free and nucleosomal H3. May cooperate with GTF3C5 in facilitating the recruitment of TFIIIB and RNA polymerase through direct interactions with BRF1, POLR3C and POLR3F. May be localized close to the A box; Belongs to the TFIIIC subunit 4 family 9606.ENSP00000361232 DDX31 851 Probable ATP-dependent RNA helicase DDX31; Probable ATP-dependent RNA helicase (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1; Belongs to the DEAD box helicase family. DDX31/DBP7 subfamily 9606.ENSP00000361238 RSPH9 306 Radial spoke head 9 homolog 9606.ENSP00000361245 HECTD3 861 E3 ubiquitin-protein ligase HECTD3; E3 ubiquitin ligases accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of TRIOBP and its subsequent proteasomal degradation, thus faciliting cell cycle progression by regulating the turn-over of TRIOBP. Mediates also ubiquitination of STX8 (By similarity) 9606.ENSP00000361263 RAPGEF1 1077 Rap guanine nucleotide exchange factor 1; Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth 9606.ENSP00000361266 PTCH2 1203 Protein patched homolog 2; May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH) 9606.ENSP00000361272 DYDC2 191 DPY30 domain containing 2; Belongs to the dpy-30 family 9606.ENSP00000361275 PLK3 646 Serine/threonine-protein kinase PLK3; Serine/threonine-protein kinase involved in cell cycle regulation, response to stress and Golgi disassembly. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates ATF2, BCL2L1, CDC25A, CDC25C, CHEK2, HIF1A, JUN, p53/TP53, p73/TP73, PTEN, TOP2A and VRK1. Involved in cell cycle regulation: required for entry into S phase and cytokinesis. Phosphorylates BCL2L1, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosi [...] 9606.ENSP00000361278 DYDC1 177 DPY30 domain-containing protein 1; Plays a crucial role during acrosome biogenesis 9606.ENSP00000361281 BEST4 473 Bestrophin-4; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Bestrophins 9606.ENSP00000361285 UCK1 282 Uridine-cytidine kinase 1; Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4- thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)- benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5- methylcytidine, and N(4)-anisoylcytidine 9606.ENSP00000361287 MAT1A 395 S-adenosylmethionine synthase isoform type-1; Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate 9606.ENSP00000361298 KIF2C 725 Kinesin-like protein KIF2C; In complex with KIF18B, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Regulates the turnover of microtubules at the kinetochore and functions in chromosome segregation during mitosis. Plays a role in chromosome congression and is required for the lateral to end-on conversion of the chromosome- microtubule attachment; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily 9606.ENSP00000361302 POMT1 747 Protein O-mannosyl-transferase 1; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient; Dolichyl D-mannosyl phosphate dependent mannosyltransferases 9606.ENSP00000361306 ATG4A 398 Cysteine protease ATG4A; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins to reveal a C-terminal glycine. Exposure of the glycine at the C-terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Preferred substrate is GABARAPL2 followed by MAP1LC3A and GABARAP. Has also an activity of delipidating enzyme for the PE-conjugated forms 9606.ENSP00000361310 POLH 713 DNA polymerase eta; DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine. Particularly important for the repair of UV-induced pyrimidine dimers. Although inserts the correct [...] 9606.ENSP00000361311 TMEM53 277 Transmembrane protein 53; Belongs to the TMEM53 family 9606.ENSP00000361331 ERI3 337 ERI1 exoribonuclease family member 3; Exonucleases 9606.ENSP00000361337 PLAC9 97 Placenta-specific protein 9; Placenta specific 9; Belongs to the PLAC9 family 9606.ENSP00000361338 PPAPDC3 271 Inactive phospholipid phosphatase 7; Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity (By similarity) 9606.ENSP00000361345 FAM78A 283 Protein FAM78A; Family with sequence similarity 78 member A; Belongs to the FAM78 family 9606.ENSP00000361355 TMEM254 123 Transmembrane protein 254 9606.ENSP00000361359 CD40 277 Tumor necrosis factor receptor superfamily member 5; Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion 9606.ENSP00000361363 DMAP1 467 DNA methyltransferase 1-associated protein 1; Involved in transcription repression and activation. Its interaction with HDAC2 may provide a mechanism for histone deacetylation in heterochromatin following replication of DNA at late firing origins. Can also repress transcription independently of histone deacetylase activity. May specifically potentiate DAXX- mediated repression of glucocorticoid receptor-dependent transcription. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucl [...] 9606.ENSP00000361366 SFTPD 375 Pulmonary surfactant-associated protein D; Contributes to the lung's defense against inhaled microorganisms, organic antigens and toxins. Interacts with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte action in immune response. May participate in the extracellular reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other alpha-glucosyl moieties; C-type lectin domain containing 9606.ENSP00000361373 KLF17 389 Krueppel-like factor 17; Transcription repressor that binds to the promoter of target genes and prevents their expression. Acts as a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Specifically binds the 5'-CACCC-3' sequence in the promoter of ID1, a key metastasis regulator in breast cancer, and repress its expression. May be a germ cell-specific transcription factor that plays important roles in spermatid differentiation and oocyte development (By similarity); Kruppel like factors 9606.ENSP00000361383 AIF1L 176 Allograft inflammatory factor 1 like; EF-hand domain containing 9606.ENSP00000361392 CCDC24 307 Coiled-coil domain containing 24 9606.ENSP00000361397 NUTM2G 741 NUT family member 2G 9606.ENSP00000361400 SFTPA2 248 Pulmonary surfactant-associated protein A2; In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration; C-type lectin domain containing 9606.ENSP00000361405 MMP9 707 Matrix metalloproteinase-9; May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide; M10 matrix metallopeptidases 9606.ENSP00000361411 ZCCHC24 241 Zinc finger CCHC-type containing 24; Zinc fingers 3CxxC-type 9606.ENSP00000361413 FIBCD1 461 Fibrinogen C domain-containing protein 1; Acetyl group-binding receptor which shows a high- affinity and calcium-dependent binding to acetylated structures such as chitin, some N-acetylated carbohydrates, and amino acids, but not to their non-acetylated counterparts. Can facilitate the endocytosis of acetylated components; Fibrinogen C domain containing 9606.ENSP00000361418 IPO13 963 Importin-13; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis r [...] 9606.ENSP00000361423 ABL1 1149 Tyrosine-protein kinase ABL1; Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like WASF3 (involved in branch formation); ANXA1 (involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH (involved in signaling); or MAPT and PXN (microtubule-bindin [...] 9606.ENSP00000361433 EXOSC2 293 Exosome complex component RRP4; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytop [...] 9606.ENSP00000361446 POLR3A 1390 DNA-directed RNA polymerase III subunit RPC1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to prom [...] 9606.ENSP00000361458 TSC22D3 200 TSC22 domain family protein 3; Protects T-cells from IL2 deprivation-induced apoptosis through the inhibition of FOXO3A transcriptional activity that leads to the down-regulation of the pro-apoptotic factor BCL2L11. In macrophages, plays a role in the anti-inflammatory and immunosuppressive effects of glucocorticoids and IL10. In T-cells, inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro, suppresses AP1 and NFKB1 DNA-binding activities (By similarity). Isoform 1 inhibits myogenic differentiation and mediates anti- myogenic effects of glucocorticoids by binding and regulat [...] 9606.ENSP00000361465 POLR1C 346 DNA-directed RNA polymerases I and III subunit RPAC1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity) 9606.ENSP00000361467 DLG5 1919 Disks large homolog 5; Acts as a regulator of the Hippo signaling pathway. Negatively regulates the Hippo signaling pathway by mediating the interaction of MARK3 with STK3/4, bringing them together to promote MARK3-dependent hyperphosphorylation and inactivation of STK3 kinase activity toward LATS1. Positively regulates the Hippo signaling pathway by mediating the interaction of SCRIB with STK4/MST1 and LATS1 which is important for the activation of the Hippo signaling pathway. Involved in regulating cell proliferation, maintenance of epithelial polarity, epithelial- mesenchymal transi [...] 9606.ENSP00000361471 ASS1 412 Argininosuccinate synthase; One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues; Belongs to the argininosuccinate synthase family. Type 1 subfamily 9606.ENSP00000361473 KDM4A 1064 Lysine-specific demethylase 4A; Histone demethylase that specifically demethylates 'Lys- 9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate. Participates in transcriptional repression of ASCL2 and E2F-responsive promoters via the recruitment of histone deacetylases and NCOR1, respectively; Lysi [...] 9606.ENSP00000361475 NCS1 190 Neuronal calcium sensor 1; Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N- type voltage-gated calcium channel (By similarity); Belongs to the recoverin family 9606.ENSP00000361483 GPR107 600 Protein GPR107; Involved in Golgi-to-ER retrograde transport. Functions as a host factor required for infection by Pseudomonas aeruginosa exotoxin A and Campylobacter jejuni CDT toxins; Belongs to the LU7TM family 9606.ENSP00000361486 PCIF1 704 Phosphorylated CTD-interacting factor 1; May play a role in transcription elongation or in coupling transcription to pre-mRNA processing through its association with the phosphorylated C-terminal domain (CTD) of RNAPII largest subunit; Protein phosphatase 1 regulatory subunits 9606.ENSP00000361499 YIPF3 350 Protein YIPF3; Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis; Yip1 domain containing 9606.ENSP00000361502 HYI 277 Putative hydroxypyruvate isomerase; Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde) 9606.ENSP00000361512 PRPS1 318 Ribose-phosphate pyrophosphokinase 1; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family 9606.ENSP00000361518 LRRC73 316 Leucine-rich repeat-containing protein 73; Leucine rich repeat containing 73 9606.ENSP00000361522 TJAP1 557 Tight junction associated protein 1 9606.ENSP00000361524 C9orf78 289 Telomere length and silencing protein 1 homolog; Involved in the regulation of telomeric heterochromatin assembly and control of telomere length; Spliceosomal P complex 9606.ENSP00000361540 CDC20 499 Cell division cycle protein 20 homolog; Required for full ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C) and may confer substrate specificity upon the complex. Is regulated by MAD2L1: in metaphase the MAD2L1-CDC20-APC/C ternary complex is inactive and in anaphase the CDC20-APC/C binary complex is active in degrading substrates. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 induces presynaptic differentia [...] 9606.ENSP00000361544 NUP62CL 184 Nucleoporin-62 C-terminal-like protein; Nucleoporin 62 C-terminal like; Belongs to the nucleoporin NSP1/NUP62 family 9606.ENSP00000361547 PRRX2 253 Paired mesoderm homeobox protein 2; May play a role in the scarless healing of cutaneous wounds during the first two trimesters of development; Belongs to the paired homeobox family 9606.ENSP00000361548 MPL 635 Thrombopoietin receptor; Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune responses; Belongs to the type I cytokine receptor family. Type 1 subfamily 9606.ENSP00000361554 TIE1 1138 Tyrosine-protein kinase receptor Tie-1; Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis 9606.ENSP00000361556 C9orf50 431 Uncharacterized protein C9orf50; Chromosome 9 open reading frame 50 9606.ENSP00000361557 RBM41 413 RNA-binding protein 41; May bind RNA; RNA binding motif containing 9606.ENSP00000361562 CTSA 498 Lysosomal protective protein; Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins 9606.ENSP00000361569 IER5L 404 Immediate early response 5 like 9606.ENSP00000361577 C10orf11 198 Leucine-rich melanocyte differentiation-associated protein; Required for melanocyte differentiation 9606.ENSP00000361580 ZNF691 315 Zinc finger protein 691; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000361595 ERMAP 475 Erythroid membrane-associated protein; Possible role as a cell-adhesion or receptor molecule of erythroid cells; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000361596 NEURL2 285 Neuralized-like protein 2; Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity) 9606.ENSP00000361597 SPATA25 227 Spermatogenesis-associated protein 25; May play a role in spermatogenesis; Belongs to the SPATA25 family 9606.ENSP00000361599 CCDC23 66 Small vasohibin-binding protein; Enhances the solubility and secretion of VASH1 and prevents its ubiquitination. Also enhances secretion of VASH2 9606.ENSP00000361601 ZSWIM1 485 Zinc finger SWIM-type containing 1 9606.ENSP00000361602 ZNF503 646 Zinc finger protein 503; May function as a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000361603 C1orf50 199 Uncharacterized protein C1orf50; Chromosome 1 open reading frame 50 9606.ENSP00000361608 ABCC10 1492 Multidrug resistance-associated protein 7; ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion; ATP binding cassette subfamily C 9606.ENSP00000361616 COMTD1 262 Catechol O-methyltransferase domain-containing protein 1; Putative O-methyltransferase; Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O- methyltransferase family 9606.ENSP00000361625 DOLPP1 238 Dolichyldiphosphatase 1; Required for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity); Lipid phosphatases 9606.ENSP00000361626 YBX1 324 Nuclease-sensitive element-binding protein 1; Mediates pre-mRNA alternative splicing regulation. Binds to splice sites in pre-mRNA and regulates splice site selection. Binds and stabilizes cytoplasmic mRNA. Contributes to the regulation of translation by modulating the interaction between the mRNA and eukaryotic initiation factors (By similarity). Regulates the transcription of numerous genes. Its transcriptional activity on the multidrug resistance gene MDR1 is enhanced in presence of the APEX1 acetylated form at 'Lys-6' and 'Lys-7'. Binds to promoters that contain a Y-box (5'-CTGATTG [...] 9606.ENSP00000361628 CXorf57 855 RPA-related protein RADX; Single-stranded DNA-binding protein recruited to replication forks to maintain genome stability. Prevents fork collapse by antagonizing the accumulation of RAD51 at forks to ensure the proper balance of fork remodeling and protection without interfering with the capacity of cells to complete homologous recombination of double-strand breaks 9606.ENSP00000361634 SH3GLB2 404 Endophilin-B2; SH3 domain containing GRB2 like, endophilin B2 9606.ENSP00000361635 VDAC2 309 Voltage-dependent anion-selective channel protein 2; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules. The channel adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation- selective; Belongs to the eukaryotic mitochondrial porin family 9606.ENSP00000361636 TNNC2 160 Troponin C, skeletal muscle; Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments; EF-hand domain containing 9606.ENSP00000361642 PPCS 311 Phosphopantothenate--cysteine ligase; Catalyzes the first step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'- phosphopantothenate to form 4-phosphopantothenoylcysteine; Belongs to the PPC synthetase family 9606.ENSP00000361646 ZMYND12 365 Zinc finger MYND-type containing 12 9606.ENSP00000361650 CRIP3 204 Cysteine rich protein 3; LIM domain containing 9606.ENSP00000361653 FOXJ3 622 Forkhead box protein J3; Transcriptional activator of MEF2C involved in the regulation pf adult muscle fiber type identity and skeletal muscle regeneration; Forkhead boxes 9606.ENSP00000361658 NUP188 1749 Nucleoporin NUP188 homolog; May function as a component of the nuclear pore complex (NPC); Armadillo-like helical domain containing 9606.ENSP00000361662 GUCA2B 112 Guanylate cyclase activator 2B; Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins. May be a potent physiological regulator of intestinal fluid and electrolyte transport. May be an autocrine/paracrine regulator of intestinal salt and water transport 9606.ENSP00000361663 IL1RAPL2 686 Interleukin 1 receptor accessory protein like 2; Belongs to the interleukin-1 receptor family 9606.ENSP00000361664 HIVEP3 2406 Transcription factor HIVEP3; Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Binds also to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down- regulation pr [...] 9606.ENSP00000361666 SLC22A7 548 Solute carrier family 22 member 7; Mediates sodium-independent multispecific organic anion transport. Transport of prostaglandin E2, prostaglandin F2, tetracycline, bumetanide, estrone sulfate, glutarate, dehydroepiandrosterone sulfate, allopurinol, 5-fluorouracil, paclitaxel, L-ascorbic acid, salicylate, ethotrexate, and alpha- ketoglutarate; Solute carriers 9606.ENSP00000361667 DOLK 538 Dolichol kinase; Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors 9606.ENSP00000361668 EDN2 178 Endothelin-2; Endothelins are endothelium-derived vasoconstrictor peptides; Endogenous ligands 9606.ENSP00000361669 ESX1 406 Homeobox protein ESX1; May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5'-TAATGTTATTA-3' which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover; PRD class homeoboxes and pseudogenes 9606.ENSP00000361672 FOXO6 559 Forkhead box protein O6; Transcriptional activator; Forkhead boxes 9606.ENSP00000361700 GLRA4 417 Glycine receptor subunit alpha-4; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents 9606.ENSP00000361704 CTPS1 591 CTP synthase 1; This enzyme is involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP- dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen. This enzyme and its product, CTP, play a crucial role in the proliferation of activated lymphocytes and therefore in immunity; Glutamine amidotransferase like class 1 domain containing 9606.ENSP00000361705 DNTTIP1 329 Deoxynucleotidyltransferase terminal-interacting protein 1; Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro). Also acts as a transcriptional regulator, binding to the consensus sequence 5'- GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA 9606.ENSP00000361708 TCEAL1 159 Transcription elongation factor A like family 9606.ENSP00000361711 TCEAL3 200 Transcription elongation factor A protein-like 3; May be involved in transcriptional regulation; Transcription elongation factor A like family 9606.ENSP00000361712 TCEAL4 358 Transcription elongation factor A protein-like 4; May be involved in transcriptional regulation; Transcription elongation factor A like family 9606.ENSP00000361716 RAB40A 277 Ras-related protein Rab-40A; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000361721 CITED4 184 Cbp/p300-interacting transactivator 4; Acts as transcriptional coactivator for TFAP2/AP-2. Enhances estrogen-dependent transactivation mediated by estrogen receptors. May function as an inhibitor of transactivation by HIF1A by disrupting HIF1A interaction with CREBBP. May be involved in regulation of gene expression during development and differentiation of blood cells, endothelial cells and mammary epithelial cells; Belongs to the CITED family 9606.ENSP00000361725 ENDOG 297 Endonuclease G, mitochondrial; Cleaves DNA at double-stranded (DG)n.(DC)n and at single-stranded (DC)n tracts. In addition to deoxyribonuclease activities, also has ribonuclease (RNase) and RNase H activities. Capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA (By similarity); Belongs to the DNA/RNA non-specific endonuclease family 9606.ENSP00000361726 WFDC10A 79 WAP four-disulfide core domain containing 9606.ENSP00000361728 NGFRAP1 111 Protein BEX3; May be a signaling adapter molecule involved in p75NTR- mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death (By similarity). May play an important role in the pathogenesis of neurogenetic diseases 9606.ENSP00000361731 TBC1D13 400 TBC1 domain family member 13; Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes 9606.ENSP00000361735 WFDC8 241 WAP four-disulfide core domain containing 9606.ENSP00000361745 WBP5 104 Transcription elongation factor A protein-like 9; May be involved in transcriptional regulation 9606.ENSP00000361746 EPPIN 133 Eppin; Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility; WAP four-disulfide core domain containing 9606.ENSP00000361748 ZDHHC12 267 Probable palmitoyltransferase ZDHHC12; Zinc finger DHHC-type containing 12; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000361755 WFDC6 86 WAP four-disulfide core domain containing 9606.ENSP00000361761 WFDC2 124 WAP four-disulfide core domain protein 2; Broad range protease inhibitor; WAP four-disulfide core domain containing 9606.ENSP00000361765 TCEAL5 206 Transcription elongation factor A protein-like 5; May be involved in transcriptional regulation; Transcription elongation factor A like family 9606.ENSP00000361769 RIMS3 308 Regulating synaptic membrane exocytosis protein 3; Regulates synaptic membrane exocytosis 9606.ENSP00000361770 TCEAL8 117 Transcription elongation factor A protein-like 8; May be involved in transcriptional regulation; Transcription elongation factor A like family 9606.ENSP00000361777 SET 290 Protein SET; Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T- lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysi [...] 9606.ENSP00000361780 BEX4 120 Protein BEX4; May play a role in microtubule deacetylation by negatively regulating the SIRT2 deacetylase activity toward alpha- tubulin and thereby participate to the control of cell cycle progression and genomic stability; Brain expressed X-linked family 9606.ENSP00000361784 ZNF684 378 Zinc finger protein 684; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000361785 DUSP13 248 Dual specificity protein phosphatase 13 isoform B; Dual specificity phosphatase that dephosphorylates MAPK8/JNK and MAPK14/p38, but not MAPK1/ERK2, in vitro. Exhibits intrinsic phosphatase activity towards both phospho-seryl/threonyl and -tyrosyl residues, with similar specific activities in vitro; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000361788 EXO5 373 Exonuclease V; Single-stranded DNA (ssDNA) bidirectional exonuclease involved in DNA repair. Probably involved in DNA repair following ultraviolet (UV) irradiation and interstrand cross-links (ICLs) damage. Has both 5'-3' and 3'-5' exonuclease activities with a strong preference for 5'-ends. Acts as a sliding exonuclease that loads at ssDNA ends and then slides along the ssDNA prior to cutting; however the sliding and the 3'-5' exonuclease activities are abolished upon binding to the replication protein A (RPA) complex that enforces 5'-directionality activity; Exonucleases 9606.ENSP00000361791 ZFP69 526 Zinc finger protein ZFP69; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000361795 DBNDD2 263 Dysbindin domain-containing protein 2; May modulate the activity of casein kinase-1. Inhibits CSNK1D autophosphorylation (in vitro); Belongs to the dysbindin family 9606.ENSP00000361800 WDR34 536 WD repeat-containing protein 34; Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation; WD repeat domain containing 9606.ENSP00000361803 SMAP2 429 Stromal membrane-associated protein 2; GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity); ArfGAPs 9606.ENSP00000361811 TP53TG5 290 TP53-target gene 5 protein; May play a significant role in p53/TP53-mediating signaling pathway 9606.ENSP00000361813 BEX1 125 Protein BEX1; Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states (By similarity); Brain expressed X-linked family 9606.ENSP00000361818 SDC4 198 Syndecan-4; Cell surface proteoglycan that bears heparan sulfate. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP; Belongs to the syndecan proteoglycan family 9606.ENSP00000361820 BHLHB9 547 Protein BHLHb9; May play a role in the control of cellular aging and survival; Armadillo repeat containing 9606.ENSP00000361824 SPTAN1 2477 Spectrin alpha chain, non-erythrocytic 1; Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane; EF-hand domain containing 9606.ENSP00000361834 COL9A2 689 Collagen alpha-2(IX) chain; Structural component of hyaline cartilage and vitreous of the eye; Collagen proteoglycans 9606.ENSP00000361842 MATN4 581 Matrilin-4; Major component of the extracellular matrix of cartilage; Matrilins 9606.ENSP00000361845 ZMPSTE24 475 CAAX prenyl protease 1 homolog; Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C 9606.ENSP00000361850 PLAU 431 Urokinase-type plasminogen activator; Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin 9606.ENSP00000361852 TMCO2 182 Transmembrane and coiled-coil domains 2 9606.ENSP00000361855 SEMG2 582 Semenogelin-2; Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa 9606.ENSP00000361857 RLF 1914 Zinc finger protein Rlf; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000361860 TCEAL6 183 Transcription elongation factor A like family 9606.ENSP00000361866 TCEAL2 227 Transcription elongation factor A protein-like 2; May be involved in transcriptional regulation; Transcription elongation factor A like family 9606.ENSP00000361867 SEMG1 462 Semenogelin-1; Predominant protein in semen. It participates in the formation of a gel matrix entrapping the accessory gland secretions and ejaculated spermatozoa. Fragments of semenogelin and/or fragments of the related proteins may contribute to the activation of progressive sperm movements as the gel-forming proteins are fragmented by KLK3/PSA 9606.ENSP00000361868 ZMAT1 638 Zinc finger matrin-type 1 9606.ENSP00000361871 WFDC12 111 WAP four-disulfide core domain protein 12; Antibacterial protein. Putative acid-stable proteinase inhibitor; WAP four-disulfide core domain containing 9606.ENSP00000361875 WFDC5 123 WAP four-disulfide core domain protein 5; Putative acid-stable proteinase inhibitor; WAP four-disulfide core domain containing 9606.ENSP00000361883 CAP1 475 Adenylyl cyclase-associated protein 1; Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity; Belongs to the CAP family 9606.ENSP00000361892 STK4 487 Serine/threonine-protein kinase 4; Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein [...] 9606.ENSP00000361894 GNMT 295 Glycine N-methyltransferase; Catalyzes the methylation of glycine by using S- adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000361895 MFSD2A 543 Sodium-dependent lysophosphatidylcholine symporter 1; Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain. Transports LPC carrying long-chain fa [...] 9606.ENSP00000361900 TOMM34 309 Mitochondrial import receptor subunit TOM34; Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state; Tetratricopeptide repeat domain containing 9606.ENSP00000361914 OXCT2 517 Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial; Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity); Belongs to the 3-oxoacid CoA-transferase family 9606.ENSP00000361915 BMP8B 402 Bone morphogenetic protein 8B; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity); Belongs to the TGF-beta family 9606.ENSP00000361917 ARMCX1 453 Armadillo repeat-containing X-linked protein 1; Regulates mitochondrial transport during axon regeneration. Increases the proportion of motile mitochondria by recruiting stationary mitochondria into the motile pool. Enhances mitochondria movement and neurite growth in both adult axons and embryonic neurons. Promotes neuronal survival and axon regeneration after nerve injury. May link mitochondria to the Trak1-kinesin motor complex via its interaction with MIRO1; Armadillo repeat containing 9606.ENSP00000361918 PPIE 314 Peptidyl-prolyl cis-trans isomerase E; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Combines RNA-binding and PPIase activities. May be involved in muscle- and brain-specific processes. May be involved in pre-mRNA splicing; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000361923 CHCHD1 118 Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins 9606.ENSP00000361926 CNPY3 278 Protein canopy homolog 3; Toll-like receptor (TLR)-specific co-chaperone for HSP90B1. Required for proper TLR folding, except that of TLR3, and hence controls TLR exit from the endoplasmic reticulum. Consequently, required for both innate and adaptive immune responses (By similarity); Belongs to the canopy family 9606.ENSP00000361927 HNRNPH2 449 Heterogeneous nuclear ribonucleoprotein H2; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG); RNA binding motif containing 9606.ENSP00000361929 CERCAM 595 Inactive glycosyltransferase 25 family member 3; Probable cell adhesion protein involved in leukocyte transmigration across the blood-brain barrier. Does not express any beta-galactosyltransferase activity in vitro 9606.ENSP00000361930 YWHAB 246 14-3-3 protein beta/alpha; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by SRPK2. Negative regulato [...] 9606.ENSP00000361932 FUT11 492 Alpha-(1,3)-fucosyltransferase 11; Probable fucosyltransferase; Fucosyltransferases 9606.ENSP00000361935 HPCAL4 191 Hippocalcin-like protein 4; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation; EF-hand domain containing 9606.ENSP00000361943 HEYL 328 Hairy/enhancer-of-split related with YRPW motif-like protein; Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6; Basic helix-loop-helix proteins 9606.ENSP00000361949 PABPC4 660 Polyadenylate-binding protein 4; Binds the poly(A) tail of mRNA. May be involved in cytoplasmic regulatory processes of mRNA metabolism. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo (By similarity); RNA binding motif containing 9606.ENSP00000361952 KCNK15 330 Potassium channel subfamily K member 15; Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel; Potassium two pore domain channel subfamily K 9606.ENSP00000361959 WISP2 250 WNT1-inducible-signaling pathway protein 2; May play an important role in modulating bone turnover. Promotes the adhesion of osteoblast cells and inhibits the binding of fibrinogen to integrin receptors. In addition, inhibits osteocalcin production; Belongs to the CCN family 9606.ENSP00000361965 ADA 363 Adenosine deaminase; Catalyzes the hydrolytic deamination of adenosine and 2- deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte- epithelial cell adhesion. Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ [...] 9606.ENSP00000361967 TBCC 346 Tubulin-specific chaperone C; Tubulin-folding protein; involved in the final step of the tubulin folding pathway; Belongs to the TBCC family 9606.ENSP00000361980 PKIG 76 cAMP-dependent protein kinase inhibitor gamma; Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains 9606.ENSP00000361982 TRUB2 331 Mitochondrial mRNA pseudouridine synthase TRUB2; Minor enzyme contributing to the conversion of uridine to pseudouridine (PSI) at position 390 in mitochondrial COXI (MT- CO1) mRNA and at position 697-699 in mitochondrial COXIII (MT-CO3) mRNA, modulating the efficiency of mitochondrial protein synthesis without changes in transcript abundance or stability 9606.ENSP00000361990 UBR2 1755 E3 ubiquitin-protein ligase UBR2; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. Required for spermatogenesis, promotes, wi [...] 9606.ENSP00000361993 TIMM8A 97 Mitochondrial import inner membrane translocase subunit Tim8 A; Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins [...] 9606.ENSP00000361995 TTPAL 342 Alpha-tocopherol transfer protein-like; May act as a protein that binds a hydrophobic ligand 9606.ENSP00000361998 TAF7L 462 Transcription initiation factor TFIID subunit 7-like; Probably functions as a spermatogensis-specific component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. May play a role in spermatogenesis (By similarity) 9606.ENSP00000362001 C20orf62 170 Uncharacterized protein encoded by LINC01620; Chromosome 20 open reading frame 62 9606.ENSP00000362010 ANXA7 488 Annexin A7; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis; Belongs to the annexin family 9606.ENSP00000362014 DNM1 864 Dynamin-1; Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis; Pleckstrin homology domain containing 9606.ENSP00000362018 CENPI 756 Centromere protein I; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Required for the localization of CENPF, MAD1L1 and MAD2 (MAD2L1 or MAD2L2) to kinetochores. Involved in the response of gonadal tissues to follicle-stimulating hormone; Constitutive centromere associated network 9606.ENSP00000362021 TMEM35 167 Transmembrane protein 35A; A soluble peptide released by shedding may interact with NGFR and modulate neurite outgrowth 9606.ENSP00000362027 TRMT2B 504 tRNA (uracil(54)-C(5))-methyltransferase homolog; Probable S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine at position 54 (m5U54) in all tRNA. May also have a role in tRNA stabilization or maturation (By similarity); Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA M5U methyltransferase family 9606.ENSP00000362036 MRPS16 137 Mitochondrial ribosomal protein S16; Belongs to the bacterial ribosomal protein bS16 family 9606.ENSP00000362041 DNAJC9 260 DnaJ homolog subfamily C member 9; May play a role as co-chaperone of the Hsp70 family proteins HSPA1A, HSPA1B and HSPA8; DNAJ heat shock proteins 9606.ENSP00000362047 XKRX 449 XK-related protein 2; XK related, X-linked 9606.ENSP00000362054 ENSG00000214732 127 annotation not available 9606.ENSP00000362057 NOX1 564 NADPH oxidase 1; NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain 9606.ENSP00000362060 NDUFS5 106 NADH dehydrogenase [ubiquinone] iron-sulfur protein 5; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000362061 OSER1 292 Oxidative stress-responsive serine-rich protein 1; Oxidative stress responsive serine rich 1 9606.ENSP00000362063 CSTF2 577 Cleavage stimulation factor subunit 2; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs (By similarity) 9606.ENSP00000362068 TAF8 310 Transcription initiation factor TFIID subunit 8; Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. Mediates both basal and activator-dependent transcription. Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts. Required for the integration of TAF10 in the TAF complex. May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity); Be [...] 9606.ENSP00000362071 JPH2 696 Junctophilin-2; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH2 is necessary for proper intracellular Ca(2+) signaling in cardiac myocytes via its involvement in ryanodine receptor-mediated calcium ion release. Contributes to the construction of skeletal muscle triad junctions 9606.ENSP00000362080 SYTL4 671 Synaptotagmin-like protein 4; Modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and the pituitary. Interacts with vesicles containing negatively charged phospholipids in a Ca(2+)-independent manner (By similarity); Synaptotagmin like tandem C2 proteins 9606.ENSP00000362082 CCND3 292 G1/S-specific cyclin-D3; Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. A [...] 9606.ENSP00000362085 C9orf16 83 UPF0184 protein C9orf16; Chromosome 9 open reading frame 16 9606.ENSP00000362092 RRAGC 399 Ras-related GTP-binding protein C; Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids 9606.ENSP00000362094 GTSF1L 148 Gametocyte-specific factor 1-like; Gametocyte specific factor 1 like 9606.ENSP00000362095 SRPX2 465 Sushi repeat-containing protein SRPX2; Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development; Sushi domain containing 9606.ENSP00000362103 POU3F1 451 POU domain, class 3, transcription factor 1; Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Thought to be involved in early embryogenesis and neurogenesis; POU class homeoboxes and pseudogenes 9606.ENSP00000362105 UTP11L 253 Probable U3 small nucleolar RNA-associated protein 11; Involved in nucleolar processing of pre-18S ribosomal RNA 9606.ENSP00000362107 FHL3 280 Four and a half LIM domains 3 9606.ENSP00000362108 LCN2 198 Neutrophil gelatinase-associated lipocalin; Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development. Binds iron through association with 2,5-dihydroxybenzoic acid (2,5- DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association o [...] 9606.ENSP00000362109 FRS3 492 Fibroblast growth factor receptor substrate 3; Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2 9606.ENSP00000362110 SF3A3 501 Splicing factor 3A subunit 3; Subunit of the splicing factor SF3A required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex; U2 small nucleolar ribonucleoprotein 9606.ENSP00000362111 TSPAN6 245 Tetraspanin-6; Tetraspanin 6; Tetraspanins 9606.ENSP00000362115 INPP5B 913 Type II inositol 1,4,5-trisphosphate 5-phosphatase; Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events; Phosphoinositide phosphatases 9606.ENSP00000362116 PGC 388 Gastricsin; Hydrolyzes a variety of proteins; Belongs to the peptidase A1 family 9606.ENSP00000362121 IFT52 437 Intraflagellar transport protein 52 homolog; Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Required for the anterograde transport of IFT88 9606.ENSP00000362122 TNMD 317 Tenomodulin; May be an angiogenesis inhibitor; BRICHOS domain containing 9606.ENSP00000362123 PLA2G12B 195 Group XIIB secretory phospholipase A2-like protein; Not known; does not seem to have catalytic activity; Phospholipases 9606.ENSP00000362125 PCDH19 1148 Protocadherin-19; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000362127 MTF1 753 Metal regulatory transcription factor 1; Activates the metallothionein I promoter. Binds to the metal responsive element (MRE) 9606.ENSP00000362131 RPA4 261 Replication protein A 30 kDa subunit; As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange 9606.ENSP00000362133 C1orf122 110 Uncharacterized protein C1orf122; Chromosome 1 open reading frame 122 9606.ENSP00000362135 YRDC 279 YrdC domain-containing protein, mitochondrial; May regulate the activity of some transporters; Belongs to the SUA5 family 9606.ENSP00000362136 MANEAL 457 Glycoprotein endo-alpha-1,2-mannosidase-like protein; Mannosidase endo-alpha like; Belongs to the glycosyl hydrolase 99 family 9606.ENSP00000362139 EPHA10 1008 Ephrin type-A receptor 10; Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5 9606.ENSP00000362144 MCU 351 Calcium uniporter protein, mitochondrial; Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria. Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down- regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buff [...] 9606.ENSP00000362146 CDCA8 280 Borealin; Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment- error-correction and chromosome alignment 9606.ENSP00000362151 FOXP4 680 Forkhead box protein P4; Transcriptional repressor that represses lung-specific expression; Forkhead boxes 9606.ENSP00000362153 GNL2 731 Nucleolar GTP-binding protein 2; GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation 9606.ENSP00000362159 SLC25A25 503 Calcium-binding mitochondrial carrier protein SCaMC-2; Calcium-dependent mitochondrial solute carrier. Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. May act as a ATP-Mg/Pi exchanger that mediates the transport of Mg-ATP in exchange for phosphate, catalyzing the net uptake or efflux of adenine nucleotides into or from the mitochondria 9606.ENSP00000362166 MEAF6 201 Chromatin modification-related protein MEAF6; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. Component of the HBO1 complex which has a histone H4-specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in viv [...] 9606.ENSP00000362170 NAIF1 327 Nuclear apoptosis-inducing factor 1; Induces apoptosis; Belongs to the NAIF1 family 9606.ENSP00000362171 NAP1L3 506 Nucleosome assembly protein 1 like 3 9606.ENSP00000362179 ZC3H12A 599 Endoribonuclease ZC3H12A; Endoribonuclease involved in various biological functions such as cellular inflammatory response and immune homeostasis, glial differentiation of neuroprogenitor cells, cell death of cardiomyocytes, adipogenesis and angiogenesis. Functions as an endoribonuclease involved in mRNA decay. Modulates the inflammatory response by promoting the degradation of a set of translationally active cytokine-induced inflammation- related mRNAs, such as IL6 and IL12B, during the early phase of inflammation. Prevents aberrant T-cell-mediated immune reaction by degradation of mu [...] 9606.ENSP00000362181 NCR2 276 Natural cytotoxicity triggering receptor 2; Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis 9606.ENSP00000362183 GRIK3 919 Glutamate receptor ionotropic, kainate 3; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate >> L-glutamate = quisqualate >> AMPA = NMDA 9606.ENSP00000362186 PCDH11X 1347 Protocadherin-11 X-linked; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000362187 FAM102A 384 Protein FAM102A; May play a role in estrogen action; Belongs to the FAM102 family 9606.ENSP00000362195 CSF3R 863 Granulocyte colony-stimulating factor receptor; Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface; CD molecules 9606.ENSP00000362201 SPOCK2 424 Testican-2; May participate in diverse steps of neurogenesis. Binds calcium; SPARC family 9606.ENSP00000362205 TREM2 230 Triggering receptor expressed on myeloid cells 2; Forms a receptor signaling complex with TYROBP and triggers activation of the immune responses in macrophages and dendritic cells. May have a role in chronic inflammations and may stimulate production of constitutive rather than inflammatory chemokines and cytokines; V-set domain containing 9606.ENSP00000362206 KLHL4 720 Kelch-like protein 4; Kelch like family member 4; BTB domain containing 9606.ENSP00000362207 CHST3 479 Carbohydrate sulfotransferase 3; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N- acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of [...] 9606.ENSP00000362208 MRPS15 257 Mitochondrial ribosomal protein S15; Belongs to the universal ribosomal protein uS15 family 9606.ENSP00000362217 DACH2 599 Dachshund homolog 2; Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlyin [...] 9606.ENSP00000362222 STK40 440 Serine/threonine-protein kinase 40; May be a negative regulator of NF-kappa-B and p53- mediated gene transcription; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000362235 ST6GALNAC6 374 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6; Sialyltransferases 9606.ENSP00000362244 MAP7D1 841 MAP7 domain containing 1; Belongs to the MAP7 family 9606.ENSP00000362255 TSPO2 170 Translocator protein 2; Binds cholesterol and mediates its redistribution during erythropoiesis which may play a role in erythrocyte maturation 9606.ENSP00000362260 ZNF711 761 Zinc finger protein 711; Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000362268 APOOL 268 MICOS complex subunit MIC27; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function, 9606.ENSP00000362271 AK1 194 Adenylate kinase isoenzyme 1; Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism; Belongs to the adenylate kinase family. AK1 subfamily 9606.ENSP00000362273 ADPRHL2 363 Poly(ADP-ribose) glycohydrolase ARH3; Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase. Poly(ADP-ribose) metabolism may be required for maintenance of the normal function of neuronal cells. Generates ADP-ribose from poly-(ADP-ribose), but does not hydrolyze ADP- ribose-arginine, -cysteine, -diphthamide, or -asparagine bonds. Due to catalytic inactivity of PARG mitochondrial isoforms, ARH3 is the only PAR hydrolyzing enzyme in mitochondria 9606.ENSP00000362282 MOCS1 385 Molybdenum cofactor biosynthesis protein 1; Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'- triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP; In the N-terminal section; belongs to the radical SAM superfamily. MoaA family 9606.ENSP00000362285 SLC29A3 475 Equilibrative nucleoside transporter 3; Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine; Solute carriers 9606.ENSP00000362287 AGO3 860 Protein argonaute-3; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Proposed to be involved in stabilization of small RNA derivates (riRNA) derived from processed RNA polymerase III-transcribed Alu repeats containing a DR2 retinoic acid response element (RARE) in stem cells and in the subsequent riRNA-dependent degradation of a subset of RNA polymerase II-transcribed coding mRNAs by recruiting a [...] 9606.ENSP00000362294 PTPRT 1460 Receptor-type tyrosine-protein phosphatase T; May be involved in both signal transduction and cellular adhesion in the CNS; Belongs to the protein-tyrosine phosphatase family. Receptor class 2B subfamily 9606.ENSP00000362296 POU3F4 361 POU domain, class 3, transcription factor 4; Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain; Deafness associated genes 9606.ENSP00000362298 SGPL1 568 Sphingosine-1-phosphate lyase 1; Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis; Belongs to the group II decarboxylase family. Sphingosine-1-phosphate lyase subfamily 9606.ENSP00000362299 ENG 658 Endoglin; Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis. Required for normal structure and integrity of adult vasculature. Regulates the migration of vascular endothelial cells. Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors. Require [...] 9606.ENSP00000362300 AGO1 857 Protein argonaute-1; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs); Argonaute/PIWI family 9606.ENSP00000362304 ADAMTS14 1226 A disintegrin and metalloproteinase with thrombospondin motifs 14; Has a aminoprocollagen type I activity processing activity in the absence of ADAMTS2. Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000362306 AGO4 861 Protein argonaute-4; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for RNA-directed transcription and replication of the human hapatitis delta virus (HDV); Belongs to the argonaute family. Ago subfamily 9606.ENSP00000362308 SH3BGRL 114 SH3 domain-binding glutamic acid-rich-like protein; SH3 domain binding glutamate rich protein like 9606.ENSP00000362314 EIF4EBP2 120 Eukaryotic translation initiation factor 4E-binding protein 2; Repressor of translation initiation involved in synaptic plasticity, learning and memory formation (By similarity). Regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form of EIF4EBP2 competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. EIF4EBP2 is enriched in brain and acts as a regulator of s [...] 9606.ENSP00000362328 KCNK17 332 Potassium channel subfamily K member 17; Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents; Potassium two pore domain channel subfamily K 9606.ENSP00000362329 PPA1 289 Pyrophosphatase 1 9606.ENSP00000362330 CHD6 2715 Chromodomain-helicase-DNA-binding protein 6; DNA-dependent ATPase that plays a role in chromatin remodeling. Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin. Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2; Myb/SANT domain containing 9606.ENSP00000362332 TFAP2E 442 Transcription factor AP-2-epsilon; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity) 9606.ENSP00000362334 PSMB2 201 Proteasome subunit beta type-2; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing prot [...] 9606.ENSP00000362339 SAR1A 198 GTP-binding protein SAR1a; Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES); ARF GTPase family 9606.ENSP00000362340 NCDN 729 Neurochondrin; Probably involved in signal transduction, in the nervous system, via increasing cell surface localization of GRM5 and positively regulating its signaling (By similarity). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin- concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth; Belongs to [...] 9606.ENSP00000362344 FPGS 587 Folylpolyglutamate synthase, mitochondrial; Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates; Belongs to the folylpolyglutamate synthase family 9606.ENSP00000362352 H2AFY2 372 Core histone macro-H2A.2; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post- translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inac [...] 9606.ENSP00000362353 GLP1R 463 Glucagon-like peptide 1 receptor; G-protein coupled receptor for glucagon-like peptide 1 (GLP-1). Ligand binding triggers activation of a signaling cascade that leads to the activation of adenylyl cyclase and increased intracellular cAMP levels. Plays a role in regulating insulin secretion in response to GLP-1 (By similarity) 9606.ENSP00000362354 LPIN3 851 Phosphatidate phosphatase LPIN3; Regulates fatty acid metabolism. Magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis (By similarity); Lipins 9606.ENSP00000362361 CDK9 372 Cyclin-dependent kinase 9; Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form. Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR, and the negative elongation factors DSIF and NELF. Regulates cytok [...] 9606.ENSP00000362372 BRWD3 1802 Bromodomain and WD repeat-containing protein 3; Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape; Bromodomain containing 9606.ENSP00000362376 C10orf35 121 Uncharacterized protein FAM241B; Chromosome 10 open reading frame 35 9606.ENSP00000362381 TOR2A 321 Torsin-2A; Torsin family 2 member A; Belongs to the ClpA/ClpB family. Torsin subfamily 9606.ENSP00000362386 TTC16 873 Tetratricopeptide repeat domain containing 9606.ENSP00000362387 TSPAN15 294 Tetraspanin-15; Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Promotes ADAM10-mediated cleavage of CDH2. Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000362390 TBX22 520 T-box transcription factor TBX22; Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis; T-boxes 9606.ENSP00000362392 C9orf117 520 Cilia- and flagella-associated protein 157; Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure; Belongs to the CFAP157 family 9606.ENSP00000362395 ITM2A 263 Integral membrane protein 2A; BRICHOS domain containing 9606.ENSP00000362399 STXBP1 603 Syntaxin-binding protein 1; May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions 9606.ENSP00000362403 TACR2 398 Substance-K receptor; This is a receptor for the tachykinin neuropeptide substance K (neurokinin A). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substance K > neuromedin-K > substance P 9606.ENSP00000362409 FAM129B 746 Niban-like protein 1; May play a role in apoptosis suppression. May promote melanoma cell invasion in vitro 9606.ENSP00000362410 MAFB 323 Transcription factor MafB; Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage- specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to [...] 9606.ENSP00000362413 PGK1 417 Phosphoglycerate kinase 1; In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein). May play a role in sperm motility 9606.ENSP00000362424 TRAF3IP1 691 TRAF3-interacting protein 1; Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels. Involved in ciliogenesis (By similarity); Intraflagellar transport proteins 9606.ENSP00000362435 ZMYM6NB 154 Transmembrane protein 35B; ZMYM6 neighbor 9606.ENSP00000362441 ATRX 2492 Transcriptional regulator ATRX; Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3- containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase [...] 9606.ENSP00000362442 ARHGAP40 622 Rho GTPase-activating protein 40; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state 9606.ENSP00000362444 DLGAP3 979 Disks large-associated protein 3; May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane; Belongs to the SAPAP family 9606.ENSP00000362446 ZNF79 498 Zinc finger protein 79; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000362456 PBDC1 233 Protein PBDC1; Polysaccharide biosynthesis domain containing 1; Belongs to the PBDC1 family 9606.ENSP00000362457 MAGEE2 523 Melanoma-associated antigen E2; MAGE family member E2 9606.ENSP00000362463 GLO1 184 Lactoylglutathione lyase; Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione. Involved in the regulation of TNF-induced transcriptional activity of NF- kappa-B. Required for normal osteoclastogenesis 9606.ENSP00000362464 GJB3 270 Gap junction beta-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Deafness associated genes 9606.ENSP00000362465 ZDHHC15 337 Palmitoyltransferase ZDHHC15; Palmitoyltransferase specific for GAP43 and DLG4/PSD95; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000362469 SLC2A8 477 Solute carrier family 2, facilitated glucose transporter member 8; Insulin-regulated facilitative glucose transporter. Binds cytochalasin B in a glucose-inhibitable manner. Seems to be a dual-specific sugar transporter as it is inhibitable by fructose (By similarity); Solute carriers 9606.ENSP00000362479 CSMD2 3631 CUB and Sushi multiple domains 2 9606.ENSP00000362480 VPS26A 327 Vacuolar protein sorting-associated protein 26A; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for carg [...] 9606.ENSP00000362481 UPRT 309 Uracil phosphoribosyltransferase homolog; Belongs to the UPRTase family 9606.ENSP00000362485 GARNL3 1013 GTPase-activating Rap/Ran-GAP domain-like protein 3; GTPase activating Rap/RanGAP domain like 3 9606.ENSP00000362507 CCDC167 97 Coiled-coil domain containing 167 9606.ENSP00000362508 UGT1A4 534 UDP-glucuronosyltransferase 1-4; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX- alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity) 9606.ENSP00000362513 UGT1A5 534 UDP-glucuronosyltransferase 1-5; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity); Belongs to the UDP-glycosyltransferase family 9606.ENSP00000362524 ANGPTL2 493 Angiopoietin-related protein 2; Induces sprouting in endothelial cells through an autocrine and paracrine action; Angiopoietin like 9606.ENSP00000362525 UGT1A7 530 UDP-glucuronosyltransferase 1-7; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000362532 RPRD1B 326 Regulation of nuclear pre-mRNA domain-containing protein 1B; Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. Transcriptional regulator which enhances expression of CCND1. Promotes binding of RNA polymerase II to the CCDN1 promoter and to the termination region before the poly-A site but decreases its binding after the poly-A site. Prevents RNA polymerase II from reading through the 3' end termination site and may allow it to be recruited back to the prom [...] 9606.ENSP00000362547 TTI1 1089 TELO2-interacting protein 1 homolog; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes, which regulate [...] 9606.ENSP00000362549 UGT1A1 530 UDP-glucuronosyltransferase 1-8; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX- alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4- methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 9606.ENSP00000362550 CMTR1 835 Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1; S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway; G-patch domain containing 9606.ENSP00000362551 ZBTB34 500 Zinc finger and BTB domain-containing protein 34; May be a transcriptional repressor; BTB domain containing 9606.ENSP00000362555 RNF19B 732 E3 ubiquitin-protein ligase RNF19B; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1. Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells. Protects against staurosporin-induced cell death 9606.ENSP00000362560 VSTM2L 204 V-set and transmembrane domain-containing protein 2-like protein; V-set and transmembrane domain containing 2 like 9606.ENSP00000362562 TMEM54 222 Transmembrane protein 54 9606.ENSP00000362563 ZBTB43 467 Zinc finger and BTB domain-containing protein 43; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000362566 HPCA 193 Neuron-specific calcium-binding protein hippocalcin; Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels. May also play a role in cyclic-nucleotide- mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity); Belongs to the recoverin family 9606.ENSP00000362570 FNDC5 212 Fibronectin type III domain-containing protein 5; Irisin: Contrary to mouse, may not be involved in the beneficial effects of muscular exercise, nor in the induction of browning of human white adipose tissue; Fibronectin type III domain containing 9606.ENSP00000362574 S100PBP 408 S100P binding protein 9606.ENSP00000362576 YARS 528 Tyrosine--tRNA ligase, cytoplasmic; Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr- AMP and then transferred to the acceptor end of tRNA(Tyr); Belongs to the class-I aminoacyl-tRNA synthetase family 9606.ENSP00000362578 RNF8 485 E3 ubiquitin-protein ligase RNF8; E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'- linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP5 [...] 9606.ENSP00000362588 PBX3 434 Pre-B-cell leukemia transcription factor 3; Transcriptional activator that binds the sequence 5'- ATCAATCAA-3'; TALE class homeoboxes and pseudogenes 9606.ENSP00000362590 TBC1D22B 505 TBC1 domain family member 22B; May act as a GTPase-activating protein for Rab family protein(s) 9606.ENSP00000362592 RBBP4 425 Histone-binding protein RBBP4; Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome re [...] 9606.ENSP00000362601 CHIC1 224 Cysteine-rich hydrophobic domain-containing protein 1; Armadillo-like helical domain containing; Belongs to the CHIC family 9606.ENSP00000362608 PIM1 313 Serine/threonine-protein kinase pim-1; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity. The stabilization of MYC exerted by PIM1 might explain pa [...] 9606.ENSP00000362609 ZBTB8A 441 Zinc finger and BTB domain-containing protein 8A; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000362613 CDX4 284 Homeobox protein CDX-4; HOXL subclass homeoboxes; Belongs to the Caudal homeobox family 9606.ENSP00000362616 NAP1L2 460 Nucleosome assembly protein 1-like 2; Acidic protein which may be involved in interactions with other proteins or DNA; Belongs to the nucleosome assembly protein (NAP) family 9606.ENSP00000362617 NAP1L6 107 Nucleosome assembly protein 1 like 6; Belongs to the nucleosome assembly protein (NAP) family 9606.ENSP00000362618 PABPC1L2A 200 poly(A) binding protein cytoplasmic 1 like 2A; RNA binding motif containing 9606.ENSP00000362621 PABPC1L2B 200 poly(A) binding protein cytoplasmic 1 like 2B; RNA binding motif containing 9606.ENSP00000362634 TSSK3 268 Testis-specific serine/threonine-protein kinase 3; May be involved in a signaling pathway during male germ cell development or mature sperm function 9606.ENSP00000362638 MARCKSL1 195 MARCKS-related protein; Controls cell movement by regulating actin cytoskeleton homeostasis and filopodium and lamellipodium formation. When unphosphorylated, induces cell migration. When phosphorylated by MAPK8, induces actin bundles formation and stabilization, thereby reducing actin plasticity, hence restricting cell movement, including neuronal migration. May also affect cancer cell migration. May be involved in coupling the protein kinase C and calmodulin signal transduction systems (By similarity) 9606.ENSP00000362639 RABEPK 372 Rab9 effector protein with kelch motifs; Rab9 effector required for endosome to trans-Golgi network (TGN) transport 9606.ENSP00000362643 PHKA1 1223 Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin 9606.ENSP00000362649 HDAC1 482 Histone deacetylase 1; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Deacetylates SP proteins, SP1 and SP3, and regulates their function. Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST- mediated transcription in resting neurons. Upon calcium s [...] 9606.ENSP00000362650 SCAI 629 Protein SCAI; Tumor suppressor which functions to suppress MKL1- induced SRF transcriptional activity. May function in the RHOA- DIAPH1 signal transduction pathway and regulate cell migration through transcriptional regulation of ITGB1; Belongs to the SCAI family 9606.ENSP00000362656 GOLGA1 767 Golgin subfamily A member 1; Probably involved in maintaining Golgi structure 9606.ENSP00000362674 HDAC8 377 Histone deacetylase 8; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility 9606.ENSP00000362680 SRC 536 Proto-oncogene tyrosine-protein kinase Src; Non-receptor protein tyrosine kinase which is activated following engagement of many different classes of cellular receptors including immune response receptors, integrins and other adhesion receptors, receptor protein tyrosine kinases, G protein- coupled receptors as well as cytokine receptors. Participates in signaling pathways that control a diverse spectrum of biological activities including gene transcription, immune response, cell adhesion, cell cycle progression, apoptosis, migration, and transformation. Due to functional redundancy be [...] 9606.ENSP00000362682 OLFML2A 652 Olfactomedin-like protein 2A; Olfactomedin like 2A 9606.ENSP00000362684 FAM167B 163 Protein FAM167B; Family with sequence similarity 167 member B; Belongs to the FAM167 (SEC) family 9606.ENSP00000362687 DDX50 737 ATP-dependent RNA helicase DDX50; DExD-box helicase 50; DEAD-box helicases 9606.ENSP00000362688 EIF3I 325 Eukaryotic translation initiation factor 3 subunit I; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000362690 NR5A1 461 Steroidogenic factor 1; Transcriptional activator. Essential for sexual differentiation and formation of the primary steroidogenic tissues. Binds to the Ad4 site found in the promoter region of steroidogenic P450 genes such as CYP11A, CYP11B and CYP21B. Also regulates the AMH/Muellerian inhibiting substance gene as well as the AHCH and STAR genes. 5'-YCAAGGYC-3' and 5'- RRAGGTCA-3' are the consensus sequences for the recognition by NR5A1. The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. Binds phosphatidylcholine (B [...] 9606.ENSP00000362702 NEK6 347 Serine/threonine-protein kinase Nek6; Protein kinase which plays an important role in mitotic cell cycle progression. Required for chromosome segregation at metaphase-anaphase transition, robust mitotic spindle formation and cytokinesis. Phosphorylates ATF4, CIR1, PTN, RAD26L, RBBP6, RPS7, RPS6KB1, TRIP4, STAT3 and histones H1 and H3. Phosphorylates KIF11 to promote mitotic spindle formation. Involved in G2/M phase cell cycle arrest induced by DNA damage. Inhibition of activity results in apoptosis. May contribute to tumorigenesis by suppressing p53/TP53-induced cancer cell senescence; [...] 9606.ENSP00000362707 MANBAL 85 Protein MANBAL; Mannosidases type beta; Belongs to the UPF0239 family 9606.ENSP00000362710 COPS7B 273 COP9 signalosome complex subunit 7b; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dep [...] 9606.ENSP00000362711 TXLNA 546 Alpha-taxilin; May be involved in intracellular vesicle traffic and potentially in calcium-dependent exocytosis in neuroendocrine cells; Belongs to the taxilin family 9606.ENSP00000362716 GHRH 108 Somatoliberin; GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone; Belongs to the glucagon family 9606.ENSP00000362717 LHX2 406 LIM/homeobox protein Lhx2; Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types (By similarity); LIM class homeoboxes 9606.ENSP00000362727 DENND1A 1009 DENN domain-containing protein 1A; Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes. Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity); DENN/MADD domain containing 9606.ENSP00000362728 KPNA6 536 Importin subunit alpha-7; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta ar [...] 9606.ENSP00000362730 MTCH1 389 Mitochondrial carrier homolog 1; Potential mitochondrial transporter. May play a role in apoptosis; Solute carriers 9606.ENSP00000362734 CRB2 1285 Protein crumbs homolog 2; Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo. Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer. The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-II [...] 9606.ENSP00000362743 C2orf72 295 Uncharacterized protein C2orf72; Chromosome 2 open reading frame 72 9606.ENSP00000362744 RPS4X 263 Ribosomal protein S4, X-linked; Belongs to the eukaryotic ribosomal protein eS4 family 9606.ENSP00000362746 GPR21 349 Probable G-protein coupled receptor 21; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000362748 TET1 2136 Methylcytosine dioxygenase TET1; Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5- hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Also mediates subsequent conversion of 5hmC into 5- formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcripti [...] 9606.ENSP00000362751 RABGAP1 1069 Rab GTPase-activating protein 1; May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase- anaphase transition 9606.ENSP00000362759 BAI2 1584 Adhesion G protein-coupled receptor B2; Orphan G-protein coupled receptor involved in cell adhesion and probably in cell-cell interactions. Activates NFAT- signaling pathway, a transcription factor, via the G-protein GNAZ. Involved in angiogenesis inhibition (By similarity) 9606.ENSP00000362760 ZBTB26 441 Zinc finger and BTB domain-containing protein 26; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000362763 ZBTB6 424 Zinc finger and BTB domain-containing protein 6; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000362768 RBL1 1068 Retinoblastoma-like protein 1; Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys- 20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation. Forms a complex with ade [...] 9606.ENSP00000362773 PIN4 156 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4; Isoform 1 is involved as a ribosomal RNA processing factor in ribosome biogenesis. Binds to tightly bent AT-rich stretches of double-stranded DNA; Belongs to the PpiC/parvulin rotamase family. PIN4 subfamily 9606.ENSP00000362774 RC3H2 1191 Roquin-2; Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimul [...] 9606.ENSP00000362776 COL16A1 1604 Collagen alpha-1(XVI) chain; Involved in mediating cell attachment and inducing integrin-mediated cellular reactions, such as cell spreading and alterations in cell morphology; Collagens 9606.ENSP00000362777 ATOH7 152 Protein atonal homolog 7; Transcription factor involved in the differentiation of retinal ganglion cells; Basic helix-loop-helix proteins 9606.ENSP00000362778 PI16 463 Peptidase inhibitor 16; May inhibit cardiomyocyte growth; CAP superfamily 9606.ENSP00000362784 OR5C1 320 Olfactory receptor 5C1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000362792 OR1N2 330 Olfactory receptor 1N2; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000362795 CXCR3 415 C-X-C chemokine receptor type 3; Isoform 1: Receptor for the C-X-C chemokine CXCL9, CXCL10 and CXCL11 and mediates the proliferation, survival and angiogenic activity of human mesangial cells (HMC) through a heterotrimeric G-protein signaling pathway. Binds to CCL21. Probably promotes cell chemotaxis response 9606.ENSP00000362799 ACRC 691 Acidic repeat-containing protein; Acidic repeat containing; Belongs to the serine-aspartate repeat-containing protein (SDr) family 9606.ENSP00000362803 PPIL1 166 Peptidyl-prolyl cis-trans isomerase-like 1; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000362807 PEF1 284 Peflin; Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in endoplasmic reticulum (ER)-Golgi transport by regulating the size of COPII coats. In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is [...] 9606.ENSP00000362814 SERINC2 464 Serine incorporator 2; Belongs to the TDE1 family 9606.ENSP00000362817 FABP3 133 Fatty acid-binding protein, heart; FABP are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters; Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000362820 SRSF3 164 Serine/arginine-rich splicing factor 3; Splicing factor that specifically promotes exon- inclusion during alternative splicing. Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites, leading to exon-inclusion during alternative splicing. Also functions as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT [...] 9606.ENSP00000362824 OGT 1046 UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta- linked N-acetylglucosamine (O-GlcNAc). Glycosylates a large and diverse number of proteins including histone H2B, AKT1, EZH2, PFKL, KMT2E/MLL5, MAPT/TAU and HCFC1. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing. Involved in insulin resist [...] 9606.ENSP00000362836 KCTD20 419 BTB/POZ domain-containing protein KCTD20; Promotes the phosphorylation of AKT family members 9606.ENSP00000362841 NKAIN1 207 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1; Sodium/potassium transporting ATPase interacting 1 9606.ENSP00000362863 REEP3 255 Receptor expression-enhancing protein 3; Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes; Belongs to the DP1 family 9606.ENSP00000362869 MORN5 161 MORN repeat containing 5 9606.ENSP00000362870 MATN1 496 Cartilage matrix protein; Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen; Matrilins 9606.ENSP00000362873 NDUFA8 172 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000362888 ADO 270 2-aminoethanethiol dioxygenase 9606.ENSP00000362894 RTKN2 609 Rhotekin-2; May play an important role in lymphopoiesis; Pleckstrin homology domain containing 9606.ENSP00000362900 SRSF4 494 Serine/arginine-rich splicing factor 4; Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10; RNA binding motif containing 9606.ENSP00000362918 YTHDF2 579 YTH domain-containing family protein 2; Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, and regulates mRNA stability. M6A is a modification present at internal sites of mRNAs and some non- coding RNAs and plays a role in mRNA stability and processing. Acts as a regulator of mRNA stability: binding to m6A-containing mRNAs results in the localization to mRNA decay sites, such as processing bodies (P-bodies), leading to mRNA degradation. Required maternally to regulate oocyte maturation: probably acts by binding to m6A-containing mRNAs, thereby regulating mater [...] 9606.ENSP00000362924 GSN 782 Gelsolin; Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis; Gelsolin/villins 9606.ENSP00000362931 SRPK1 655 SRSF protein kinase 1; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Plays a central role in the regulatory network for splicing, controlling the intranuclear distribution of splicing factors in interphase cells and the reorganization of nuclear speckles during mitosis. Can influence additional steps of mRNA maturation, as well as other cellular activiti [...] 9606.ENSP00000362932 RAB42 105 Ras-related protein Rab-42; RAB42, member RAS oncogene family 9606.ENSP00000362935 ITGB1BP2 347 Integrin beta-1-binding protein 2; May play a role during maturation and/or organization of muscles cells 9606.ENSP00000362936 TRNAU1AP 287 tRNA selenocysteine 1-associated protein 1; Involved in the early steps of selenocysteine biosynthesis and tRNA(Sec) charging to the later steps resulting in the cotranslational incorporation of selenocysteine into selenoproteins. Stabilizes the SECISBP2, EEFSEC and tRNA(Sec) complex. May be involved in the methylation of tRNA(Sec). Enhances efficiency of selenoproteins synthesis (By similarity); Belongs to the RRM TRSPAP family 9606.ENSP00000362937 RCC1 452 Regulator of chromosome condensation; Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP. Involved in the regulation of onset of chromosome condensation in the S phase. Binds both to the nucleosomes and double-stranded DNA. RCC1-Ran complex (together with other proteins) acts as a component of a signal transmission pathway that detects unreplicated DNA. Plays a key role in nucleo- cytoplasmic transport, mitosis and nuclear-envelope assembly 9606.ENSP00000362942 PHACTR4 712 Phosphatase and actin regulator 4; Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to [...] 9606.ENSP00000362946 RAB14 215 Ras-related protein Rab-14; Involved in membrane trafficking between the Golgi complex and endosomes during early embryonic development. Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development. May act by modulating the kinesin KIF16B-cargo association to endosomes (By similarity). Regulates, together with its guanine nucleotide exchange factor DENND6A, the specific endocytic transport of ADAM10, N- cadherin/CDH2 s [...] 9606.ENSP00000362948 MED18 208 Mediator of RNA polymerase II transcription subunit 18; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000362962 CNTRL 2325 Centriolin; Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle- mediated abscission 9606.ENSP00000362965 PTAFR 342 Platelet-activating factor receptor; Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth- muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol- calcium second messenger system 9606.ENSP00000362968 CLPSL1 121 Colipase-like protein 1; Colipase like 1; Belongs to the colipase family 9606.ENSP00000362978 EYA3 573 Eyes absent homolog 3; Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5 [...] 9606.ENSP00000362981 TGIF2 237 Homeobox protein TGIF2; Transcriptional repressor, which probably repress transcription by binding directly the 5'-CTGTCAA-3' DNA sequence or by interacting with TGF-beta activated SMAD proteins. Probably represses transcription via the recruitment of histone deacetylase proteins; TALE class homeoboxes and pseudogenes 9606.ENSP00000362987 PHYHIPL 376 Phytanoyl-CoA hydroxylase-interacting protein-like; May play a role in the development of the central system; Fibronectin type III domain containing 9606.ENSP00000362991 XKR8 395 XK-related protein 8; Promotes phosphatidylserine exposure on apoptotic cell surface, possibly by mediating phospholipid scrambling. Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment. Has no effect on calcium-induced exposure of phosphatidylserine. Activated upon caspase cleavage, suggesting that it does not act prior the onset of apoptosis; Belongs to the XK family 9606.ENSP00000362993 BICC1 974 Protein bicaudal C homolog 1; Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development; Sterile alpha motif domain containing 9606.ENSP00000362994 TRAF1 416 TNF receptor-associated factor 1; Adapter molecule that regulates the activation of NF- kappa-B and JNK. Plays a role in the regulation of cell survival and apoptosis. The heterotrimer formed by TRAF1 and TRAF2 is part of a E3 ubiquitin-protein ligase complex that promotes ubiquitination of target proteins, such as MAP3K14. The TRAF1/TRAF2 complex recruits the antiapoptotic E3 protein- ubiquitin ligases BIRC2 and BIRC3 to TNFRSF1B/TNFR2; TNF receptor associated factors 9606.ENSP00000363001 SMPDL3B 455 Acid sphingomyelinase-like phosphodiesterase 3b; Lipid-modulating phosphodiesterase. Active on the surface of macrophages and dendritic cells and strongly influences macrophage lipid composition and membrane fluidity. Acts as a negative regulator of Toll-like receptor signaling (By similarity) 9606.ENSP00000363017 RPA2 278 Replication protein A 32 kDa subunit; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRI [...] 9606.ENSP00000363018 RPL10A 217 60S ribosomal protein L10a; Component of the large ribosomal subunit 9606.ENSP00000363019 UBE2D1 147 Ubiquitin-conjugating enzyme E2 D1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1. Ubiquitinates STUB1-associated HSP90AB1 in vitro. Lacks inherent specificity for any particular lysine residue of ubiquitin. Essential for viral activation of IRF3. Mediates polyubi [...] 9606.ENSP00000363023 DLGAP4 989 Disks large-associated protein 4; May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane 9606.ENSP00000363031 THEMIS2 643 Protein THEMIS2; May constitute a control point in macrophage inflammatory response, promoting LPS-induced TNF production 9606.ENSP00000363040 MEGF9 602 Multiple epidermal growth factor-like domains protein 9; Multiple EGF like domains 9 9606.ENSP00000363041 CISD1 108 CDGSH iron-sulfur domain-containing protein 1; Plays a key role in regulating maximal capacity for electron transport and oxidative phosphorylation (By similarity). May be involved in Fe-S cluster shuttling and/or in redox reactions; Belongs to the CISD protein family 9606.ENSP00000363043 AAR2 384 Protein AAR2 homolog; Component of the U5 snRNP complex that is required for spliceosome assembly and for pre-mRNA splicing 9606.ENSP00000363046 IPMK 416 Inositol polyphosphate multikinase; Inositol phosphate kinase with a broad substrate specificity. Has a preference for inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) and inositol 1,3,4,6-tetrakisphosphate (Ins(1,3,4,6)P4) 9606.ENSP00000363054 STX12 276 Syntaxin-12; SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network. The SNARE complex containing STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion (in vitro) (By similarity). Through complex formation with GRIP1, GRIA2 and NSG1 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity); Belongs to the syntaxin family 9606.ENSP00000363055 ZWINT 277 ZW10 interactor; Part of the MIS12 complex, which is required for kinetochore formation and spindle checkpoint activity. Required to target ZW10 to the kinetochore at prometaphase 9606.ENSP00000363064 ZNF76 570 Zinc finger protein 76; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000363068 PCDH15 1962 Protocadherin-15; Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function; Cadherin related 9606.ENSP00000363071 DES 470 Desmin; Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. May act as a sarcomeric microtubule-ancho [...] 9606.ENSP00000363079 MBL2 248 Mannose-binding protein C; Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells, facilitating their uptake by macrophages. May bind DNA; Collectins 9606.ENSP00000363081 DKK1 266 Dickkopf-related protein 1; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease. Inhibits the pro-apoptotic function of KREMEN1 in a Wnt-independent manner [...] 9606.ENSP00000363089 TLR4 839 Toll-like receptor 4; Cooperates with LY96 and CD14 to mediate the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+). Responses triggered by Ni(2+) require non-conserved histidines and are, therefore, species-specific. Both M.tuberculosis HSP70 (dnaK) and HSP65 (groEL-2) act via this protein to stimulate NF-kappa-B expression. In complex with T [...] 9606.ENSP00000363092 PRKG1 686 cGMP-dependent protein kinase 1; Serine/threonine protein kinase that acts as key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 phosphorylation are implicated in modulating cellular calcium, but the contribution of each of these targets may vary substantially among cell types. Proteins that are phosphorylated by PRKG1 regulate platelet activation and adhesion, smooth muscle contraction, cardiac function, gene expression, feedback of the NO-s [...] 9606.ENSP00000363103 SCAND1 179 SCAN domain-containing protein 1; May regulate transcriptional activity; SCAN domain containing 9606.ENSP00000363117 FGR 529 Tyrosine-protein kinase Fgr; Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B. Acts d [...] 9606.ENSP00000363118 ASAH2B 165 Putative inactive neutral ceramidase B; N-acylsphingosine amidohydrolase 2B 9606.ENSP00000363123 AHDC1 1603 AT-hook DNA-binding motif-containing protein 1; AT-hook DNA binding motif containing 1 9606.ENSP00000363124 PHF20 1012 PHD finger protein 20; Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 'Lys-16' acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage 9606.ENSP00000363128 DEC1 70 Deleted in esophageal cancer 1; Candidate tumor suppressor 9606.ENSP00000363134 GJB1 283 Gap junction beta-1 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell 9606.ENSP00000363135 C6orf106 298 Uncharacterized protein C6orf106; Chromosome 6 open reading frame 106 9606.ENSP00000363136 GPR3 330 G-protein coupled receptor 3; Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Has a potential role in modulating a number of brain functions, including behavioral responses to stress (By similarity), amyloid-beta peptide generation in neurons and neurite outgrowth (By similarity). Maintains also meiotic arrest in oocytes (By similarity); G protein-coupled receptors, Class A orphans 9606.ENSP00000363139 CD164L2 173 CD164 molecule like 2; Belongs to the CD164 family 9606.ENSP00000363149 SPDEF 335 SAM pointed domain-containing Ets transcription factor; May function as an androgen-independent transactivator of the prostate-specific antigen (PSA) promoter. Binds to 5'-GGAT- 3' DNA sequences. May play a role in the regulation of the prostate gland and/or prostate cancer development. Acts as a transcriptional activator for SERPINB5 promoter; ETS transcription factor family 9606.ENSP00000363157 TNFSF15 251 Tumor necrosis factor ligand superfamily member 15; Receptor for TNFRSF25 and TNFRSF6B. Mediates activation of NF-kappa-B. Inhibits vascular endothelial growth and angiogenesis (in vitro). Promotes activation of caspases and apoptosis; Belongs to the tumor necrosis factor family 9606.ENSP00000363162 ATP6V1G1 118 V-type proton ATPase subunit G 1; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation 9606.ENSP00000363191 ROMO1 79 Reactive oxygen species modulator 1; Induces production of reactive oxygen species (ROS) which are necessary for cell proliferation. May play a role in inducing oxidative DNA damage and replicative senescence. May play a role in the coordination of mitochondrial morphology and cell proliferation; Belongs to the MGR2 family 9606.ENSP00000363193 MED12 2177 Mediator of RNA polymerase II transcription subunit 12; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specific [...] 9606.ENSP00000363205 NFS1 457 Cysteine desulfurase, mitochondrial; Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron- sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor 9606.ENSP00000363207 AGAP5 686 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5; Putative GTPase-activating protein; Ankyrin repeat domain containing 9606.ENSP00000363211 TIMM23B 188 Translocase of inner mitochondrial membrane 23 homolog B; TIM23 complex 9606.ENSP00000363216 OGDHL 1010 2-oxoglutarate dehydrogenase-like, mitochondrial; Oxoglutarate dehydrogenase like; Belongs to the alpha-ketoglutarate dehydrogenase family 9606.ENSP00000363226 C10orf53 157 Chromosome 10 open reading frame 53 9606.ENSP00000363228 RBM12 932 RNA-binding protein 12; RNA binding motif containing 9606.ENSP00000363229 SLC18A3 532 Vesicular acetylcholine transporter; Involved in acetylcholine transport into synaptic vesicles; Solute carriers 9606.ENSP00000363232 KIF12 513 Kinesin-like protein KIF12; Kinesin family member 12; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family 9606.ENSP00000363242 PGBD3 593 piggyBac transposable element derived 3; DNA transposon derived genes 9606.ENSP00000363250 GPN2 310 GPN-loop GTPase 2; Small GTPase required for proper localization of RNA polymerase II and III (RNAPII and RNAPIII). May act at an RNAP assembly step prior to nuclear import; GPN-loop GTPases 9606.ENSP00000363254 DRGX 263 Dorsal root ganglia homeobox protein; Transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain; PRD class homeoboxes and pseudogenes 9606.ENSP00000363255 RGS3 1198 Regulator of G-protein signaling 3; Down-regulates signaling from heterotrimeric G-proteins by increasing the GTPase activity of the alpha subunits, thereby driving them into their inactive GDP-bound form. Down-regulates G- protein-mediated release of inositol phosphates and activation of MAP kinases; C2 domain containing 9606.ENSP00000363257 ZDHHC18 388 Palmitoyltransferase ZDHHC18; Has palmitoyltransferase activity towards HRAS and LCK; Zinc fingers DHHC-type 9606.ENSP00000363259 C10orf71 1435 Uncharacterized protein C10orf71; Chromosome 10 open reading frame 71 9606.ENSP00000363260 PIGV 493 GPI mannosyltransferase 2; Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly; Dolichyl D-mannosyl phosphate dependent mannosyltransferases 9606.ENSP00000363268 C10orf128 129 Putative uncharacterized protein C10orf128; Chromosome 10 open reading frame 128 9606.ENSP00000363270 RUFY4 607 RUN and FYVE domain containing 4; Zinc fingers FYVE-type 9606.ENSP00000363286 POLE3 147 DNA polymerase epsilon subunit 3; Forms a complex with DNA polymerase epsilon subunit CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1 9606.ENSP00000363298 BSPRY 402 B box and SPRY domain-containing protein; May regulate epithelial calcium transport by inhibiting TRPV5 activity 9606.ENSP00000363308 WDR31 367 WD repeat-containing protein 31; WD repeat domain containing 9606.ENSP00000363313 PRPF4 522 U4/U6 small nuclear ribonucleoprotein Prp4; Participates in pre-mRNA splicing. Part of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome; U4/U6 small nucleolar ribonucleoprotein 9606.ENSP00000363314 LIN28A 209 Protein lin-28 homolog A; RNA-binding protein that inhibits processing of pre-let- 7 miRNAs and regulates translation of mRNAs that control developmental timing, pluripotency and metabolism. Seems to recognize a common structural G- quartet (G4) feature in its miRNA and mRNA targets (Probable). 'Translational enhancer' that drives specific mRNAs to polysomes and increases the efficiency of protein synthesis. Its association with the translational machinery and target mRNAs results in an increased number of initiation events per molecule of mRNA and, indirectly, in mRNA stabilization. B [...] 9606.ENSP00000363317 FRMPD2 1309 FERM and PDZ domain-containing protein 2; May play a role in the regulation of tight junction formation. Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2); FERM domain containing 9606.ENSP00000363318 IL2RG 369 Cytokine receptor common subunit gamma; Common subunit for the receptors for a variety of interleukins; CD molecules 9606.ENSP00000363322 CDC26 85 Anaphase-promoting complex subunit CDC26; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. May recruit the E2 ubiquitin-conjugating enzymes to the complex 9606.ENSP00000363329 SLC31A1 190 High affinity copper uptake protein 1; High-affinity, saturable copper transporter involved in dietary copper uptake; Solute carriers 9606.ENSP00000363330 CD52 61 CAMPATH-1 antigen; May play a role in carrying and orienting carbohydrate, as well as having a more specific role; CD molecules 9606.ENSP00000363339 UBXN11 520 UBX domain-containing protein 11; May be involved in the reorganization of actin cytoskeleton mediated by RND1, RND2 AND RND3. Promotes RHOA activation mediated by GNA12 and GNA13 (By similarity); UBX domain containing 9606.ENSP00000363345 SLC46A2 475 Thymic stromal cotransporter homolog; May act as a transporter; Belongs to the major facilitator superfamily. SLC46A family 9606.ENSP00000363349 SNX30 437 Sorting nexin-30; May be involved in several stages of intracellular trafficking; Autophagy related 9606.ENSP00000363360 INIP 104 SOSS complex subunit C; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single- stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination- dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways 9606.ENSP00000363369 CXorf65 183 Uncharacterized protein CXorf65; Chromosome X open reading frame 65 9606.ENSP00000363371 CNKSR1 720 Connector enhancer of kinase suppressor of ras 1; May function as an adapter protein or regulator of Ras signaling pathways; Belongs to the CNKSR family 9606.ENSP00000363377 FOXO4 505 Forkhead box protein O4; Transcription factor involved in the regulation of the insulin signaling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes. Also involved in negative regulation of the cell cycle. Involved in increased proteasome activity in embryonic stem cells (ESCs) by activating expression of PSMD11 in ESCs, leading to enhanced assembly of the 26S proteasome, followed by higher proteasome activity; Forkhead boxes 9606.ENSP00000363382 SUSD1 757 Sushi domain containing 1 9606.ENSP00000363384 ZNF593 134 Zinc finger protein 593; Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity. Could act either by binding to DNA octamer or by interacting with Oct-2. May also be a modulator of other octamer-binding proteins 9606.ENSP00000363386 FAM110D 271 Protein FAM110D; Family with sequence similarity 110 member D; Belongs to the FAM110 family 9606.ENSP00000363389 PDIK1L 341 Serine/threonine-protein kinase PDIK1L; PDLIM1 interacting kinase 1 like; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000363390 TRIM63 353 E3 ubiquitin-protein ligase TRIM63; E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti- [...] 9606.ENSP00000363391 SPAG4 437 Sperm-associated antigen 4 protein; Involved in spermatogenesis. Required for sperm head formation but not required to establish and maintain general polarity of the sperm head. Required for anchoring and organization of the manchette. Required for targeting of SUN3 and probably SYNE1 through a probable SUN1:SYNE3 LINC complex to the nuclear envelope and involved in accurate posterior sperm head localization of the complex. May anchor SUN3 the nuclear envelope. Involved in maintenance of the nuclear envelope integrity. May assist the organization and assembly of outer dense fibers (ODF [...] 9606.ENSP00000363394 SLC30A2 372 Solute carrier family 30 member 2 9606.ENSP00000363397 UGCG 394 Ceramide glucosyltransferase; Catalyzes the first glycosylation step in glycosphingolipid biosynthesis, the transfer of glucose to ceramide. May also serve as a "flippase"; Belongs to the glycosyltransferase 2 family 9606.ENSP00000363398 EXTL1 676 Exostosin-like 1; Probable glycosyltransferase; Belongs to the glycosyltransferase 47 family 9606.ENSP00000363400 PAFAH2 392 Platelet-activating factor acetylhydrolase 2, cytoplasmic; Has a marked selectivity for phospholipids with short acyl chains at the sn-2 position. May share a common physiologic function with the plasma-type enzyme 9606.ENSP00000363405 C9orf84 1444 Uncharacterized protein C9orf84; Chromosome 9 open reading frame 84 9606.ENSP00000363411 GNG10 68 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. Interacts with beta-1 and beta-2, but not with beta-3 9606.ENSP00000363412 ENSG00000244115 153 Guanine nucleotide-binding protein subunit gamma; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000363414 PAQR7 346 Membrane progestin receptor alpha; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(i) mediated pathway. May be involved in oocyte maturation. Involved in neurosteroid inhibition of apoptosis. Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone; Belongs to the ADIPOR family 9606.ENSP00000363417 SLC7A3 619 Cationic amino acid transporter 3; Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner; Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family 9606.ENSP00000363419 MTFR1L 292 Mitochondrial fission regulator 1 like; Belongs to the MTFR1 family 9606.ENSP00000363431 NPY4R 375 Neuropeptide Y receptor type 4; Receptor for neuropeptide Y and peptide YY. The rank order of affinity of this receptor for pancreatic polypeptides is PP, PP (2-36) and [Ile-31, Gln-34] PP > [Pro-34] PYY > PYY and [Leu-31, Pro-34] NPY > NPY > PYY (3-36) and NPY (2-36) > PP (13- 36) > PP (31-36) > NPY free acid 9606.ENSP00000363435 ITPR3 2671 Inositol 1,4,5-trisphosphate receptor type 3; Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium; Inositol 1,4,5-triphosphate receptors 9606.ENSP00000363436 GPRIN2 458 G protein-regulated inducer of neurite outgrowth 2; May be involved in neurite outgrowth 9606.ENSP00000363441 ENSG00000204176 421 Synaptotagmin-15; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues; Synaptotagmins 9606.ENSP00000363452 MAN1C1 630 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC; Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc 9606.ENSP00000363458 LDLRAP1 308 Low density lipoprotein receptor adapter protein 1; Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalizat [...] 9606.ENSP00000363459 PTPN20A 420 Tyrosine-protein phosphatase non-receptor type 20; Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates 9606.ENSP00000363463 TMEM57 664 Macoilin; Transmembrane protein 57 9606.ENSP00000363478 TMEM50A 157 Transmembrane protein 50A 9606.ENSP00000363480 DLG3 817 Disks large homolog 3; Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling; Membrane associated guanylate kinases 9606.ENSP00000363482 FAM21C 1320 WASH complex subunit 2C; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex prob [...] 9606.ENSP00000363492 GDF5 501 Growth/differentiation factor 5; Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction. Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG. Required to prevent excessive muscle loss upo [...] 9606.ENSP00000363495 GDF5OS 250 Protein GDF5OS, mitochondrial; Growth differentiation factor 5 opposite strand 9606.ENSP00000363500 CLIC4 253 Chloride intracellular channel protein 4; Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Promotes cell- surface expression of HRH3. Has alternate cellular functions like a potential role in angiogenesis or in maintaining apical- basolateral membrane polarity during mitosis and cytokinesis. Could also promote endothelial cell proliferation and regulate endothelial morphogenesis (tubulogenesis) 9606.ENSP00000363506 UQCC1 299 Ubiquinol-cytochrome-c reductase complex assembly factor 1; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability; Belongs to the CBP3 family 9606.ENSP00000363512 ALOX5 674 Arachidonate 5-lipoxygenase; Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes; Belongs to the lipoxygenase family 9606.ENSP00000363513 NCMAP 102 Noncompact myelin-associated protein; Plays a role in myelin formation 9606.ENSP00000363516 RCAN3 241 Calcipressin-3; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity); Belongs to the RCAN family 9606.ENSP00000363520 NIPAL3 406 NIPA-like protein 3; NIPA like domain containing 3 9606.ENSP00000363524 KIF4A 1232 Chromosome-associated kinesin KIF4A; Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization; Kinesins 9606.ENSP00000363529 FAM83C 747 Protein FAM83C; May play a role in MAPK signaling 9606.ENSP00000363530 STPG1 334 O(6)-methylguanine-induced apoptosis 2; May positively contribute to the induction of apoptosis triggered by O(6)-methylguanine 9606.ENSP00000363533 MDH1B 518 Malate dehydrogenase 1B 9606.ENSP00000363545 ZDBF2 2354 DBF4-type zinc finger-containing protein 2; Zinc finger DBF-type containing 2 9606.ENSP00000363553 LPAR1 364 Lysophosphatidic acid receptor 1; Receptor for lysophosphatidic acid (LPA). Plays a role in the reorganization of the actin cytoskeleton, cell migration, differentiation and proliferation, and thereby contributes to the responses to tissue damage and infectious agents. Activates downstream signaling cascades via the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Signaling inhibits adenylyl cyclase activity and decreases cellular cAMP levels. Signaling triggers an increase of cytoplasmic Ca(2+) levels. Activates RALA; this leads to the activation of phospholipase C [...] 9606.ENSP00000363557 MYOM3 1437 Myomesin-3; May link the intermediate filament cytoskeleton to the M-disk of the myofibrils in striated muscle; Fibronectin type III domain containing 9606.ENSP00000363571 MUSK 869 Muscle, skeletal receptor tyrosine-protein kinase; Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskel [...] 9606.ENSP00000363574 EIF6 245 Eukaryotic translation initiation factor 6; Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. Behaves as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (RACK1)-dependent protein kinase C activity. In tissues responsive to insulin, control [...] 9606.ENSP00000363583 RASGEF1A 489 Ras-GEF domain-containing family member 1A; Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration 9606.ENSP00000363590 CSGALNACT2 542 Chondroitin sulfate N-acetylgalactosaminyltransferase 2; Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains 9606.ENSP00000363591 BAK1 211 Bcl-2 homologous antagonist/killer; In the presence of an appropriate stimulus, accelerates programmed cell death by binding to, and antagonizing the anti- apoptotic action of BCL2 or its adenovirus homolog E1B 19k protein. Low micromolar levels of zinc ions inhibit the promotion of apoptosis; Belongs to the Bcl-2 family 9606.ENSP00000363596 CNR2 360 Cannabinoid receptor 2; Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis 9606.ENSP00000363603 FUCA1 466 Tissue alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins 9606.ENSP00000363614 HMGCL 325 Hydroxymethylglutaryl-CoA lyase, mitochondrial; Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism 9606.ENSP00000363616 EDEM2 578 ER degradation-enhancing alpha-mannosidase-like protein 2; Initiates the endoplasmic reticulum-associated degradation (ERAD) that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner. Catalyzes the first mannose trimming step, from Man9GlcNAc2 to Man8GlcNAc2. Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle; Belongs to the glycosyl hydrolase 47 family 9606.ENSP00000363624 CUTA 198 Protein CutA; May form part of a complex of membrane proteins attached to acetylcholinesterase (AChE); Belongs to the CutA family 9606.ENSP00000363634 TXNDC8 115 Thioredoxin domain-containing protein 8; May be required for post-translational modifications of proteins required for acrosomal biogenesis. May act by reducing disulfide bonds within the sperm 9606.ENSP00000363638 LYPLA2 231 Acyl-protein thioesterase 2; Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins, GAP43, ZDHHC6 or HRAS. Deacylates GAP43. Mediates depalmitoylation of ZDHHC6. Has lysophospholipase activity (By similarity) 9606.ENSP00000363640 PHF1 567 PHD finger protein 1; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it is however unclear whether recruitment of the PRC2 complex to H3K36me3 leads to enhance or inhibit H3K27me3 methylation mediated by the PRC2 complex. According to some reports, PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing [...] 9606.ENSP00000363641 TXN 105 Thioredoxin; Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions. Plays a role in the reversible S-nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity. Induces the FOS/JUN AP-1 DNA-binding activity in ionizing radiation (IR) cells through its oxidation/reduction status and stimulates A [...] 9606.ENSP00000363642 BMS1 1282 Ribosome biogenesis protein BMS1 homolog; May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus 9606.ENSP00000363643 P2RY4 365 P2Y purinoceptor 4; Receptor for UTP and UDP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. Not activated by ATP or ADP 9606.ENSP00000363645 AWAT1 328 Acyl-CoA wax alcohol acyltransferase 1; Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activity using saturated long chain alcohols (C16, C18, and C20); Diacylglycerol O-acyltransferase 2 family 9606.ENSP00000363654 ENSG00000157654 1103 A-kinase anchor protein 2; Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity) 9606.ENSP00000363661 IGBP1 339 Immunoglobulin-binding protein 1; Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits 9606.ENSP00000363667 PTPN3 913 Tyrosine-protein phosphatase non-receptor type 3; May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity; FERM domain containing 9606.ENSP00000363668 DAXX 740 Death domain-associated protein 6; Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 throu [...] 9606.ENSP00000363676 RPL11 178 60S ribosomal protein L11; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl- transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome throug [...] 9606.ENSP00000363680 EDA 391 Ectodysplasin-A; Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R. May also play a role in cell adhesion (By similarity); Tumor necrosis factor superfamily 9606.ENSP00000363683 MDS2 140 Myelodysplastic syndrome 2 translocation associated 9606.ENSP00000363689 ID3 119 DNA-binding protein inhibitor ID-3; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation. Inhibits the [...] 9606.ENSP00000363694 EPB41L4B 900 Band 4.1-like protein 4B; Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells. Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing. May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation; FERM domain containing 9606.ENSP00000363708 BMPR2 1038 Bone morphogenetic protein receptor type-2; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily 9606.ENSP00000363714 TMEM245 879 Transmembrane protein 245 9606.ENSP00000363727 STARD8 1103 StAR-related lipid transfer protein 8; Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5- bisphosphate by PLCD1 9606.ENSP00000363745 HNRNPR 636 Heterogeneous nuclear ribonucleoprotein R; Component of ribonucleosomes, which are complexes of at least 20 other different heterogenious nuclear ribonucleoproteins (hnRNP). hnRNP play an important role in processing of precursor mRNA in the nucleus; RNA binding motif containing 9606.ENSP00000363746 WDR46 610 WD repeat-containing protein 46; Scaffold component of the nucleolar structure. Required for localization of DDX21 and NCL to the granular compartment of the nucleolus; WD repeat domain containing 9606.ENSP00000363748 HTR1D 377 5-hydroxytryptamine receptor 1D; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for ergot alkaloid derivatives, various anxiolytic and antidepressant drugs and other psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. Regulates the release of 5-hydroxytryptamine in the brain, and thereby affects neural activity. May also pl [...] 9606.ENSP00000363753 FAM206A 181 Protein Simiate; Family with sequence similarity 206 member A 9606.ENSP00000363763 EPHB2 987 Ephrin type-B receptor 2; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral corte [...] 9606.ENSP00000363770 C1QC 245 Complement C1q subcomponent subunit C; C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes 9606.ENSP00000363773 C1QA 245 Complement C1q subcomponent subunit A; C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes 9606.ENSP00000363779 IKBKAP 1332 Elongator complex protein 1; May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK); Belongs to the ELP1/IKA1 family 9606.ENSP00000363787 RING1 406 E3 ubiquitin-protein ligase RING1; Constitutes one of the E3 ubiquitin-protein ligases that mediate monoubiquitination of 'Lys-119' of histone H2A, thereby playing a central role in histone code and gene regulation. H2A 'Lys-119' ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG P [...] 9606.ENSP00000363794 HSD17B8 261 Estradiol 17-beta-dehydrogenase 8; NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone. The heterotetramer with CBR4 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis. Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000363799 ACTL7B 415 Actin-like protein 7B; Actin related proteins; Belongs to the actin family 9606.ENSP00000363804 KLF4 479 Krueppel-like factor 4; Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Involved in the differentiation of epithelial cells and may also fu [...] 9606.ENSP00000363809 SLC39A7 469 Zinc transporter SLC39A7; Zinc transporter, that transports Zn(2+) from the endoplasmic reticulum/Golgi apparatus to the cytosol. Transport is stimulated by growth factors, such as EGF, and Ca(2+), as well as by exogenous Zn(2+); Belongs to the ZIP transporter (TC 2.A.5) family. KE4/Catsup subfamily 9606.ENSP00000363817 RXRB 537 Retinoic acid receptor RXR-beta; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE); Nuclear hormone receptors 9606.ENSP00000363822 AR 920 Androgen receptor; Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3 9606.ENSP00000363824 TMEM38B 291 Trimeric intracellular cation channel type B; Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores; Belongs to the TMEM38 family 9606.ENSP00000363826 FZD8 694 Frizzled-8; Receptor for Wnt proteins. Component of the Wnt-Fzd- LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome- sized signalosomes. The beta-catenin canonical signaling pathway leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrate [...] 9606.ENSP00000363827 HSPG2 4391 Basement membrane-specific heparan sulfate proteoglycan core protein; Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development; I-set domain containing 9606.ENSP00000363832 AOX1 1338 Aldehyde oxidase; Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N- methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species [...] 9606.ENSP00000363836 CCNY 341 Cyclin-Y; Positive regulatory subunit of the cyclin-dependent kinases CDK14/PFTK1 and CDK16. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by recruiting CDK14/PFTK1 to the plasma membrane and promoting phosphorylation of LRP6, leading to the activation of the Wnt signaling pathway. Recruits CDK16 to the plasma membrane. Isoform 3 might play a role in the activation of MYC-mediated transcription 9606.ENSP00000363840 COL11A2 1650 Collagen alpha-2(XI) chain; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils; Collagens 9606.ENSP00000363852 SLC44A1 657 Choline transporter-like protein 1; Choline transporter. May be involved in membrane synthesis and myelin production; Belongs to the CTL (choline transporter-like) family 9606.ENSP00000363868 ABCA1 2261 ATP-binding cassette sub-family A member 1; cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport; Belongs to the ABC transporter superfamily. ABCA family 9606.ENSP00000363869 VSIG4 399 V-set and immunoglobulin domain-containing protein 4; Phagocytic receptor, strong negative regulator of T-cell proliferation and IL2 production. Potent inhibitor of the alternative complement pathway convertases; Immunoglobulin like domain containing 9606.ENSP00000363873 OXLD1 147 Oxidoreductase-like domain-containing protein 1; Oxidoreductase like domain containing 1 9606.ENSP00000363891 SLC38A10 1119 Putative sodium-coupled neutral amino acid transporter 10; Putative sodium-dependent amino acid/proton antiporter; Solute carriers 9606.ENSP00000363894 NIPSNAP3B 247 Nipsnap homolog 3B; Belongs to the NipSnap family 9606.ENSP00000363899 NIPSNAP3A 247 Nipsnap homolog 3A; Belongs to the NipSnap family 9606.ENSP00000363911 OR13C5 318 Olfactory receptor 13C5; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000363913 OR13C3 347 Olfactory receptor 13C3; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000363921 PARD3 1356 Partitioning defective 3 homolog; Adapter protein involved in asymmetrical cell division and cell polarization processes. Seems to play a central role in the formation of epithelial tight junctions. Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Required for establishment of [...] 9606.ENSP00000363929 NCOA6 2063 Nuclear receptor coactivator 6; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. M [...] 9606.ENSP00000363939 PPP3R2 173 Calcineurin subunit B type 2; Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity (By similarity); EF-hand domain containing 9606.ENSP00000363943 TP53INP2 220 Tumor protein p53-inducible nuclear protein 2; Dual regulator of transcription and autophagy. Positively regulates autophagy and is required for autophagosome formation and processing. May act as a scaffold protein that recruits MAP1LC3A, GABARAP and GABARAPL2 and brings them to the autophagosome membrane by interacting with VMP1 where, in cooperation with the BECN1-PI3-kinase class III complex, they trigger autophagosome development. Acts as a transcriptional activator of THRA 9606.ENSP00000363944 LAS1L 734 Ribosomal biogenesis protein LAS1L; Involved in the biogenesis of the 60S ribosomal subunit. Required for maturation of the 28S rRNA. Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes 9606.ENSP00000363970 MAP1LC3A 125 Microtubule-associated proteins 1A/1B light chain 3A; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation; Autophagy related 9606.ENSP00000363972 ZC4H2 224 Zinc finger C4H2 domain-containing protein; Plays a role in interneurons differentiation. Involved in neuronal development and in neuromuscular junction formation; Zinc fingers 9606.ENSP00000363973 ALPL 524 Alkaline phosphatase, tissue-nonspecific isozyme; This isozyme may play a role in skeletal mineralization; Belongs to the alkaline phosphatase family 9606.ENSP00000363976 HLA-DMA 261 HLA class II histocompatibility antigen, DM alpha chain; Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO 9606.ENSP00000363984 TMEM246 403 Transmembrane protein 246 9606.ENSP00000363985 MTMR8 704 Myotubularin-related protein 8; Phosphatase that acts on lipids with a phosphoinositol headgroup; Myotubularins 9606.ENSP00000363988 ALDOB 364 Aldolase, fructose-bisphosphate B 9606.ENSP00000363993 PSMB9 219 Proteasome subunit beta type-9; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues 9606.ENSP00000363999 MRPL50 158 Mitochondrial ribosomal protein L50 9606.ENSP00000364000 COL5A2 1499 Collagen alpha-2(V) chain; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue- specific matrices (By similarity) 9606.ENSP00000364008 LPPR1 325 Lipid phosphate phosphatase-related protein type 1 9606.ENSP00000364013 TMEFF1 380 Tomoregulin-1; May inhibit NODAL and BMP signaling during neural patterning (By similarity). May be a tumor suppressor in brain cancers 9606.ENSP00000364016 PSMB8 276 Proteasome subunit beta type-8; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Acts as a major component of interferon gamma-induced sensitivity. Pla [...] 9606.ENSP00000364023 ZXDB 803 Zinc finger X-linked protein ZXDB; Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes; Belongs to the ZXD family 9606.ENSP00000364028 ECE1 770 Endothelin-converting enzyme 1; Converts big endothelin-1 to endothelin-1; Belongs to the peptidase M13 family 9606.ENSP00000364034 TAP2 653 Antigen peptide transporter 2; Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation [...] 9606.ENSP00000364035 FAAH2 532 Fatty-acid amide hydrolase 2; Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates 9606.ENSP00000364037 TEX10 929 Testis-expressed protein 10; Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit 9606.ENSP00000364043 SPIN2A 258 Spindlin-2A; May be involved in the regulation of cell cycle progression (By similarity). Exhibits H3K4me3-binding activity; Spindlin family 9606.ENSP00000364054 SPIN3 258 Spindlin-3; Exhibits H3K4me3-binding activity; Spindlin family 9606.ENSP00000364076 HLA-DQA2 255 HLA class II histocompatibility antigen, DQ alpha 2 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for p [...] 9606.ENSP00000364080 HLA-DQB1 269 HLA class II histocompatibility antigen, DQ beta 1 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pr [...] 9606.ENSP00000364089 PAGE3 113 PAGE family member 3 9606.ENSP00000364107 PAGE2 111 PAGE family member 2 9606.ENSP00000364110 PAGE2B 111 PAGE family member 2B; Belongs to the GAGE family 9606.ENSP00000364114 HLA-DRB5 266 HLA class II histocompatibility antigen, DR beta 5 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pr [...] 9606.ENSP00000364119 EIF2S2 333 Eukaryotic translation initiation factor 2 subunit 2; eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyz [...] 9606.ENSP00000364126 APEX2 518 DNA-(apurinic or apyrimidinic site) lyase 2; Function as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Displays also double-stranded DNA 3'-5' exonuclease, 3'-phosphodiesterase activities. Shows robust 3'-5' exonuclease activity on 3'-recessed heteroduple [...] 9606.ENSP00000364133 TGFBR1 503 TGF-beta receptor type-1; Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogen [...] 9606.ENSP00000364140 COL15A1 1388 Collagen alpha-1(XV) chain; Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle; Collagen proteoglycans 9606.ENSP00000364145 PFKFB1 471 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1; Synthesis and degradation of fructose 2,6-bisphosphate; In the C-terminal section; belongs to the phosphoglycerate mutase family 9606.ENSP00000364150 GALNT12 581 Polypeptide N-acetylgalactosaminyltransferase 12; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward non-glycosylated peptides such as Muc5AC, Muc1a and EA2, and no detectable activity with Muc2 and Muc7. Displays enzymatic activity toward the Gal-NAc- Muc5AC glycopeptide, but no detectable activity to mono-GalNAc- glycosylated Muc1a, Muc2, Muc7 and EA2. May play an important role in the initial step of mucin-type oligosaccharide biosy [...] 9606.ENSP00000364152 OR8B2 313 Olfactory receptor 8B2; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000364163 NOTCH4 2003 Neurogenic locus notch homolog protein 4; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May regulate branching morphogenesis in the developing vascular system (By similarity); Ankyrin repeat domain containing 9606.ENSP00000364164 OR10G9 311 Olfactory receptor 10G9; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000364165 ENSG00000216937 628 Coiled-coil domain containing 7; May play a role in tumorigenesis 9606.ENSP00000364166 TMEM225 225 Transmembrane protein 225; Probably inhibits protein phosphatase 1 (PP1) in sperm via binding to catalytic subunit PPP1CC 9606.ENSP00000364180 GPSM3 160 G-protein-signaling modulator 3; Interacts with subunit of G(i) alpha proteins and regulates the activation of G(i) alpha proteins 9606.ENSP00000364190 PBX2 430 Pre-B-cell leukemia transcription factor 2; Transcriptional activator that binds the sequence 5'- ATCAATCAA-3'. Activates transcription of PF4 in complex with MEIS1; TALE class homeoboxes and pseudogenes 9606.ENSP00000364204 PINK1 581 Serine/threonine-protein kinase PINK1, mitochondrial; Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PRKN. Targets PRKN to dysfunctional depolarized mitochondria through the phosphorylation of MFN2. Activates PRKN in 2 steps: (1) by mediating phosphorylation at 'Ser-65' of PRKN and (2) mediating phosphorylation of ubiquitin, converting PRKN to its fully-active form. Required for ubiquinone reduct [...] 9606.ENSP00000364209 MAGED2 606 Melanoma-associated antigen D2; Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule; MAGE family 9606.ENSP00000364210 AGER 420 Advanced glycosylation end product-specific receptor; Mediates interactions of advanced glycosylation end products (AGE). These are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. Acts as a mediator of both acute and chronic vascular inflammation in conditions such as atherosclerosis and in particular as a complication of diabetes. AGE/RAGE signaling plays an important role in regulating the production/expression of TNF- alpha, oxidative stress, and endothelial dysfunction in type 2 diabetes. Interaction with S [...] 9606.ENSP00000364212 CDA 146 Cytidine deaminase; This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis 9606.ENSP00000364219 CAMK2N1 78 Calcium/calmodulin-dependent protein kinase II inhibitor 1; Potent and specific inhibitor of CaM-kinase II (CAMK2); Belongs to the CAMK2N family 9606.ENSP00000364220 VWA5B1 1220 Von Willebrand factor A domain containing 5B1 9606.ENSP00000364235 RNF5 180 E3 ubiquitin-protein ligase RNF5; Has E2-dependent E3 ubiquitin-protein ligase activity. May function together with E2 ubiquitin-conjugating enzymes UBE2D1/UBCH5A and UBE2D2/UBC4. Mediates ubiquitination of PXN/paxillin and Salmonella type III secreted protein sopA. May be involved in regulation of cell motility and localization of PXN/paxillin. Mediates the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD; the ubiquitination appears to involve E2 ubiquitin-conjugating enzyme UBE2N. Me [...] 9606.ENSP00000364240 UBXN10 280 UBX domain-containing protein 10; VCP/p97-binding protein required for ciliogenesis. Acts as a tethering factor that facilitates recruitment of VCP/p97 to the intraflagellar transport complex B (IFT-B) in cilia. UBX domain-containing proteins act as tethering factors for VCP/p97 and may specify substrate specificity of VCP/p97 9606.ENSP00000364243 PLA2G2F 211 Group IIF secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Hydrolyzes phosphatidylglycerol versus phosphatidylcholine with a 15-fold preference; Belongs to the phospholipase A2 family 9606.ENSP00000364246 PLA2G2D 145 Group IID secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. L-alpha-1-palmitoyl-2- linoleoyl phosphatidylethanolamine is more efficiently hydrolyzed than the other phospholipids examined 9606.ENSP00000364249 PLA2G5 138 Calcium-dependent phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. This isozyme hydrolyzes more efficiently L-alpha-1-palmitoyl-2-oleoyl phosphatidylcholine than L-alpha-1-palmitoyl-2-arachidonyl phosphatidylcholine, L- alpha-1-palmitoyl-2-arachidonyl phosphatidylethanolamine, or L- alpha-1-stearoyl-2-arachidonyl phosphatidylinositol. May be involved in the production of lung surfactant, the remodeling or regulation of cardiac muscle 9606.ENSP00000364257 PLA2G2E 142 Group IIE secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids; Phospholipases 9606.ENSP00000364260 C9orf156 441 tRNA (adenine(37)-N6)-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase responsible for the addition of the methyl group in the formation of N6-methyl-N6-threonylcarbamoyladenosine at position 37 (m(6)t(6)A37) of the tRNA anticodon loop of tRNA(Ser)(GCU). The methyl group of m(6)t(6)A37 may improve the efficiency of the tRNA decoding ability. May bind to tRNA (By similarity) 9606.ENSP00000364261 OTUD3 398 OTU domain-containing protein 3; Deubiquitinating enzyme that hydrolyzes 'Lys-6'- and 'Lys-11'-linked polyubiquitin. Also hydrolyzes heterotypic (mixed and branched) and homotypic chains; OTU domain containing 9606.ENSP00000364263 RNF186 227 Ring finger protein 186 9606.ENSP00000364265 FOXE1 373 Forkhead box protein E1; Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression; Forkhead boxes 9606.ENSP00000364270 XPA 273 DNA repair protein complementing XP-A cells; Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation; Belongs to the XPA family 9606.ENSP00000364277 FGD1 961 FYVE, RhoGEF and PH domain-containing protein 1; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape; Pleckstrin homology domain containing 9606.ENSP00000364289 NCBP1 790 Nuclear cap-binding protein subunit 1; Component of the cap-binding complex (CBC), which binds cotranscriptionally to the 5'-cap of pre-mRNAs and is involved in various processes such as pre-mRNA splicing, translation regulation, nonsense-mediated mRNA decay, RNA-mediated gene silencing (RNAi) by microRNAs (miRNAs) and mRNA export. The CBC complex is involved in mRNA export from the nucleus via its interaction with ALYREF/THOC4/ALY, leading to the recruitment of the mRNA export machinery to the 5'-end of mRNA and to mRNA export in a 5' to 3' direction through the nuclear pore. The CBC [...] 9606.ENSP00000364293 TSR2 191 Pre-rRNA-processing protein TSR2 homolog; May be involved in 20S pre-rRNA processing 9606.ENSP00000364295 PQLC2 291 Lysosomal amino acid transporter 1 homolog; Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes 9606.ENSP00000364298 FKBPL 349 FK506-binding protein-like; May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21; FKBP prolyl isomerases 9606.ENSP00000364320 MRTO4 239 mRNA turnover protein 4 homolog; Component of the ribosome assembly machinery. Nuclear paralog of the ribosomal protein P0, it binds pre-60S subunits at an early stage of assembly in the nucleolus, and is replaced by P0 in cytoplasmic pre-60S subunits and mature 80S ribosomes 9606.ENSP00000364324 FAM120C 1096 Constitutive coactivator of PPAR-gamma-like protein 2; Family with sequence similarity 120C; Belongs to the constitutive coactivator of PPAR-gamma family 9606.ENSP00000364346 ZNF341 854 Zinc finger protein 341; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000364349 ATF6B 703 Cyclic AMP-dependent transcription factor ATF-6 beta; Transcriptional factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress. Binds DNA on the 5'-CCAC[GA]-3' half of the ER stress response element (ERSE) (5'-CCAATN(9)CCAC[GA]-3') when NF-Y is bound to ERSE; Basic leucine zipper proteins 9606.ENSP00000364361 ZAK 800 Mitogen-activated protein kinase kinase kinase 20; Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2. Involved in limb development 9606.ENSP00000364370 C20orf144 153 Uncharacterized protein C20orf144; Chromosome 20 open reading frame 144 9606.ENSP00000364379 ZNF510 683 Zinc finger protein 510; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000364382 AAED1 226 Thioredoxin-like protein AAED1; AhpC/TSA antioxidant enzyme domain containing 1; Belongs to the AAED1 family 9606.ENSP00000364389 CDC14B 498 Dual specificity protein phosphatase CDC14B; Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases; Belongs to the protein-tyrosine ph [...] 9606.ENSP00000364398 HABP4 413 Intracellular hyaluronan-binding protein 4; RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation. Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation. Binds (via C-terminus) to poly(U) RNA. Involved in mRNA translation regulation, probably at the initiation step 9606.ENSP00000364403 UBR4 5183 E3 ubiquitin-protein ligase UBR4; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Together with clathrin, forms meshwork structures involved in membrane morphogenesis and cytoskeletal organization. Regulates integrin-mediated signaling. May play a role in activation of FAK in response to cell-matrix interactions. Mediates ubiquitination of ACLY, leading to its subsequent degradat [...] 9606.ENSP00000364404 DCAF17 520 DDB1- and CUL4-associated factor 17; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000364405 ZNF367 350 Zinc finger protein 367; Transcriptional activator. Isoform 1 may be involved in transcriptional activation of erythroid genes; Zinc fingers C2H2-type 9606.ENSP00000364412 HSD17B3 310 Testosterone 17-beta-dehydrogenase 3; Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000364430 SP5 398 Transcription factor Sp5; Binds to GC boxes promoters elements. Probable transcriptional activator that has a role in the coordination of changes in transcription required to generate pattern in the developing embryo (By similarity); Sp transcription factors 9606.ENSP00000364448 UPF3A 476 Regulator of nonsense transcripts 3A; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2- UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. However, UPF3A is shown to be only marginally active in NMD as compared to UPF3B. Binds spliced mRNA upstream of exon-exo [...] 9606.ENSP00000364449 SIK3 1321 Serine/threonine-protein kinase SIK3; SIK family kinase 3; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily 9606.ENSP00000364464 C9orf3 819 Aminopeptidase O; Aminopeptidases catalyze the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates. Able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin-angiotensin pathway. Not able to cleave angiotensin I and angiotensin II. May play a role in the proteolytic processing of bioactive peptides in tissues such as testis and heart; M1 metallopeptidases 9606.ENSP00000364467 LYZL2 194 Lysozyme-like protein 2; Lysozymes, c-type 9606.ENSP00000364476 RIBC1 379 RIB43A domain with coiled-coils 1; Belongs to the RIB43A family 9606.ENSP00000364482 STK19 368 Serine/threonine-protein kinase 19; Seems to be a protein kinase. In vitro it can phosphorylate casein-alpha on serine and threonine residues and histones on serine residues 9606.ENSP00000364486 FBP2 339 Fructose-1,6-bisphosphatase isozyme 2; Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate; Fructose-1,6-bisphosphatases 9606.ENSP00000364490 ALDH4A1 563 Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial; Irreversible conversion of delta-1-pyrroline-5- carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes 9606.ENSP00000364493 HIATL1 506 Hippocampus abundant transcript-like 1; Belongs to the major facilitator superfamily 9606.ENSP00000364498 DXO 396 Decapping and exoribonuclease protein; Ribonuclease that specifically degrades pre-mRNAs with a defective 5' end cap and is part of a pre-mRNA capping quality control. Has decapping, pyrophosphohydrolase and 5'-3' exonuclease activities. Has decapping activity toward incomplete 5' end cap mRNAs such as unmethylated 5' end-capped RNA to release GpppN and 5' end monophosphate RNA. The 5' end monophosphate RNA is then degraded by the 5'-3' exoribonuclease activity, enabling this enzyme to decap and degrade incompletely capped mRNAs. Also possesses RNA 5'-pyrophosphohydrolase activity by h [...] 9606.ENSP00000364501 CD300LD 194 CMRF35-like molecule 4; CD300 molecule like family member d; V-set domain containing 9606.ENSP00000364502 TMEM255B 326 Transmembrane protein 255B 9606.ENSP00000364512 G6PC2 355 Glucose-6-phosphatase 2; May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity); Glucose 6-phosphatases, catalytic 9606.ENSP00000364515 BTBD17 478 BTB/POZ domain-containing protein 17; BTB domain containing 17 9606.ENSP00000364519 TFDP1 410 Transcription factor Dp-1; Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5'-TTTC[CG]CGC-3', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters; Belongs to the E2F/DP family 9606.ENSP00000364520 TAS1R2 839 Taste receptor type 1 member 2; Putative taste receptor. TAS1R2/TAS1R3 recognizes diverse natural and synthetic sweeteners 9606.ENSP00000364524 PAX7 520 Paired box protein Pax-7; Transcription factor playing a role in myogenesis through regulation of muscle precursor cells proliferation; PRD class homeoboxes and pseudogenes 9606.ENSP00000364526 KIAA1462 1359 Junctional protein associated with coronary artery disease; KIAA1462 9606.ENSP00000364543 SKIV2L 1246 Helicase SKI2W; Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C); Belongs to the helicase family. SKI2 subfamily 9606.ENSP00000364550 KDM5C 1560 Lysine-specific demethylase 5C; Histone demethylase that specifically demethylates 'Lys- 4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer- mediated transcriptional activation of the core clock component PER2 (By [...] 9606.ENSP00000364555 ACTL8 366 Actin-like protein 8; Actin related proteins 9606.ENSP00000364561 FAM120AOS 256 Uncharacterized protein FAM120AOS; Family with sequence similarity 120A opposite strand 9606.ENSP00000364567 ADPRHL1 354 [Protein ADP-ribosylarginine] hydrolase-like protein 1; ADP-ribosylhydrolase like 1 9606.ENSP00000364568 C9orf129 196 Putative uncharacterized protein C9orf129; Chromosome 9 open reading frame 129 9606.ENSP00000364578 NELFE 380 Negative elongation factor E; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. Provides the strongest RNA binding activity of the NELF complex and may initially recruit the NELF complex to RNA. Binds to the HIV-1 TAR RNA which is located in th [...] 9606.ENSP00000364579 GRTP1 344 Growth hormone-regulated TBC protein 1; May act as a GTPase-activating protein for Rab family protein(s) 9606.ENSP00000364585 RCC2 522 Protein RCC2; Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor for the small GTPase RAC1 9606.ENSP00000364586 SCN2A 2005 Sodium channel protein type 2 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily 9606.ENSP00000364589 CUL4A 759 Cullin-4A; Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition com [...] 9606.ENSP00000364591 TSPYL2 693 Testis-specific Y-encoded-like protein 2; Part of the CASK/TBR1/TSPYL2 transcriptional complex which modulates gene expression in response to neuronal synaptic activity, probably by facilitating nucleosome assembly. May inhibit cell proliferation by inducing p53-dependent CDKN1A expression 9606.ENSP00000364595 NINJ1 152 Ninjurin-1; Homophilic cell adhesion molecule that promotes axonal growth. May play a role in nerve regeneration and in the formation and function of other tissues. Cell adhesion requires divalent cations 9606.ENSP00000364597 PADI4 663 Protein-arginine deiminase type-4; Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance. Citrullinates histone H1 at 'Arg-54' (to form H1R54ci), histone H3 at 'Arg-2', 'Arg-8', 'Arg-17' and/or 'Arg-26' (to form H3R2ci, H3R8ci, H3R17ci, H3R26ci, respectively) and histone H4 at 'Arg-3' (to form H4R3ci). Acts as a key regulator of stem cell maintenance by mediating citrullination of histone H1: citrullination of 'Arg- 54' of histone H1 (H1R54ci) results in H1 displacem [...] 9606.ENSP00000364603 BPIFA3 254 BPI fold containing family A member 3; Belongs to the BPI/LBP/Plunc superfamily. Plunc family 9606.ENSP00000364609 PADI3 664 Protein-arginine deiminase type-3; Catalyzes the deimination of arginine residues of proteins; Peptidyl arginine deiminases 9606.ENSP00000364613 C9orf89 183 Chromosome 9 open reading frame 89 9606.ENSP00000364620 PADI1 663 Protein-arginine deiminase type-1; Catalyzes the deimination of arginine residues of proteins; Peptidyl arginine deiminases 9606.ENSP00000364621 SUSD3 255 Sushi domain-containing protein 3; May play a role in breast tumorigenesis by promoting estrogen-dependent cell proliferation, cell-cell interactions and migration; Sushi domain containing 9606.ENSP00000364627 NXPE4 544 NXPE family member 4; Neurexophilin and PC-esterase domain family member 4; Belongs to the NXPE family 9606.ENSP00000364631 FGD3 725 FYVE, RhoGEF and PH domain-containing protein 3; Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape (By similarity); Pleckstrin homology domain containing 9606.ENSP00000364632 BPIFB4 614 BPI fold-containing family B member 4; May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity); Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family 9606.ENSP00000364635 PADI2 665 Protein-arginine deiminase type-2; Catalyzes the deimination of arginine residues of proteins; Peptidyl arginine deiminases 9606.ENSP00000364639 RBM7 267 RNA-binding protein 7; Subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor SKIV2L2/MTR4, which links to RNA- binding protein adapters. Possible involved in germ cell RNA processing and meiosis (Probable) 9606.ENSP00000364643 BPIFB3 476 BPI fold-containing family B member 3; May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity); BPI fold containing 9606.ENSP00000364649 SDHB 280 Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) 9606.ENSP00000364650 LYZL1 194 Lysozyme-like protein 1; Lysozymes, c-type; Belongs to the glycosyl hydrolase 22 family 9606.ENSP00000364661 SPANXN5 72 Sperm protein associated with the nucleus on the X chromosome N5; SPANX family member N5; Belongs to the SPAN-X family 9606.ENSP00000364677 ZBTB12 459 Zinc finger and BTB domain-containing protein 12; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000364678 EHMT2 1233 Histone-lysine N-methyltransferase EHMT2; Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltr [...] 9606.ENSP00000364683 BAMBI 260 BMP and activin membrane-bound inhibitor homolog; Negatively regulates TGF-beta signaling; Belongs to the BAMBI family 9606.ENSP00000364685 MFAP2 183 Microfibrillar-associated protein 2; Component of the elastin-associated microfibrils; Belongs to the MFAP family 9606.ENSP00000364691 CROCC 2017 Rootletin; Major structural component of the ciliary rootlet, a cytoskeletal-like structure in ciliated cells which originates from the basal body at the proximal end of a cilium and extends proximally toward the cell nucleus (By similarity). Furthermore, is required for the correct positioning of the cilium basal body relative to the cell nucleus, to allow for ciliogenesis. Contributes to centrosome cohesion before mitosis 9606.ENSP00000364694 ASPN 380 Asporin; Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cart [...] 9606.ENSP00000364699 SDHD 159 Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) 9606.ENSP00000364700 OMD 421 Osteomodulin; May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)- integrin (By similarity); Small leucine rich repeat proteoglycans 9606.ENSP00000364709 F10 488 Coagulation factor X; Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting; Gla domain containing 9606.ENSP00000364721 MAPRE1 268 Microtubule-associated protein RP/EB family member 1; Plus-end tracking protein (+TIP) that binds to the plus- end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes cytoplasmic microtubule nucleation and elongation. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomal minus-end microtubules to the Golgi, [...] 9606.ENSP00000364731 F7 466 Coagulation factor VII; Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium; Gla domain containing 9606.ENSP00000364737 CENPP 288 Centromere protein P; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex; Constitutive centromere associated network 9606.ENSP00000364742 FBXO42 717 F-box only protein 42; Substrate-recognition component of some SCF (SKP1-CUL1- F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation; F-boxes other 9606.ENSP00000364749 RSG1 258 REM2- and Rab-like small GTPase 1; Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity) 9606.ENSP00000364752 XAGE1A 81 X antigen family member 1A 9606.ENSP00000364765 LAYN 382 Layilin; Receptor for hyaluronate; C-type lectin domain containing 9606.ENSP00000364766 XAGE1B 81 X antigen family member 1B; Belongs to the GAGE family 9606.ENSP00000364782 NEU1 415 Sialidase-1; Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage 9606.ENSP00000364791 C6orf48 75 Protein G8; Chromosome 6 open reading frame 48 9606.ENSP00000364794 IARS 1262 Isoleucine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000364801 HSPA1B 641 Heat shock protein family A member 1B 9606.ENSP00000364802 HSPA1A 641 Heat shock 70 kDa protein 1A; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and AD [...] 9606.ENSP00000364805 HSPA1L 641 Heat shock 70 kDa protein 1-like; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis an [...] 9606.ENSP00000364813 LSM2 95 U6 snRNA-associated Sm-like protein LSm2; Binds specifically to the 3'-terminal U-tract of U6 snRNA. May be involved in pre-mRNA splicing; Belongs to the snRNP Sm proteins family 9606.ENSP00000364814 FAM131C 280 Protein FAM131C; Family with sequence similarity 131 member C 9606.ENSP00000364815 VARS 1264 Valine--tRNA ligase; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000364831 CLCNKB 687 Chloride channel protein ClC-Kb; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms; Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily 9606.ENSP00000364839 ASXL1 1541 Putative Polycomb group protein ASXL1; Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-11 [...] 9606.ENSP00000364840 VWA7 891 Von Willebrand factor A domain containing 7 9606.ENSP00000364847 MAGED1 834 Melanoma-associated antigen D1; Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression [...] 9606.ENSP00000364855 MSH5 835 MutS protein homolog 5; Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity); Belongs to the DNA mismatch repair MutS family 9606.ENSP00000364858 CARD16 197 Caspase recruitment domain-containing protein 16; Caspase inhibitor. Acts as a regulator of procaspase- 1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-interleukin-1 beta (IL1B) and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. Also induces NF-kappa-B activation during the pro- inflammatory cytokine response. Also able to inhibit CASP1- mediated neuronal cell death, TNF-alpha, hypoxia-, UV-, and staurosporine-mediated cell death but not ER stress-mediated cell death. Acts by preventing activation of c [...] 9606.ENSP00000364859 CARD17 110 Caspase recruitment domain-containing protein 17; Regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. However, unlike CASP1, do not induce NF-kappa-B activation; Caspase recruitment domain containing 9606.ENSP00000364860 ROR2 943 Tyrosine-protein kinase transmembrane receptor ROR2; Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation. In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling; I-set domain containing 9606.ENSP00000364864 KIF3B 747 Kinesin-like protein KIF3B; Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro (By similarity); Kinesins 9606.ENSP00000364883 AUH 339 Methylglutaconyl-CoA hydratase, mitochondrial; Catalyzes the conversion of 3-methylglutaconyl-CoA to 3- hydroxy-3-methylglutaryl-CoA. Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5- dicarboxylate catabolism pathway. The C5- dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs 9606.ENSP00000364885 ZBTB17 810 Zinc finger and BTB domain-containing protein 17; Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrul [...] 9606.ENSP00000364886 RND3 244 Rho-related GTP-binding protein RhoE; Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins; Rho family GTPases 9606.ENSP00000364893 ARHGEF7 803 Rho guanine nucleotide exchange factor 7; Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions (By similarity). May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons; Pleckstrin homology domain containing 9606.ENSP00000364902 POFUT1 388 GDP-fucose protein O-fucosyltransferase 1; Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can [...] 9606.ENSP00000364907 SYK 635 Tyrosine-protein kinase SYK; Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development. Assembles into signaling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine- phosphorylated ITAM domains. The association with the receptor can [...] 9606.ENSP00000364912 SPEN 3664 Msx2-interacting protein; May serve as a nuclear matrix platform that organizes and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergizes with RUNX2 to enhance FGFR2- mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses t [...] 9606.ENSP00000364919 DIRAS2 199 GTP-binding protein Di-Ras2; Displays low GTPase activity and exists predominantly in the GTP-bound form; Belongs to the small GTPase superfamily. Di-Ras family 9606.ENSP00000364929 ING1 422 Inhibitor of growth protein 1; Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumor suppressor gene; PHD finger proteins 9606.ENSP00000364935 CLIC1 241 Chloride intracellular channel protein 1; Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Involved in regulation of the cell cycle 9606.ENSP00000364938 TMEM82 343 Transmembrane protein 82 9606.ENSP00000364945 DDAH2 285 N(G),N(G)-dimethylarginine dimethylaminohydrolase 2; Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS. Has therefore a role in the regulation of nitric oxide generation 9606.ENSP00000364946 MKX 352 Homeobox protein Mohawk; May act as a morphogenetic regulator of cell adhesion; TALE class homeoboxes and pseudogenes 9606.ENSP00000364956 PLEKHM2 1019 Pleckstrin homology domain-containing family M member 2; May play a role in the regulation of conventional kinesin activity. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation. May play a role in lysosomes movement and localization at the cell periphery; Pleckstrin homology domain containing 9606.ENSP00000364964 C6orf25 241 Megakaryocyte and platelet inhibitory receptor G6b; Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production. Inhibits platelet aggregation and activation by agonists such as ADP and collagen-related peptide. This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling. Appears to operate in a calcium-independent manner 9606.ENSP00000364965 SECISBP2 854 Selenocysteine insertion sequence-binding protein 2; Binds to the SECIS element in the 3'-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB 9606.ENSP00000364976 CKS2 79 Cyclin-dependent kinases regulatory subunit 2; Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function 9606.ENSP00000364978 LY6G6C 125 Lymphocyte antigen 6 family member G6C; LY6/PLAUR domain containing 9606.ENSP00000364979 COL4A1 1669 Collagen alpha-1(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen 9606.ENSP00000364985 LY6G6D 133 Lymphocyte antigen 6 family member G6D; LY6/PLAUR domain containing 9606.ENSP00000364986 AGMAT 352 Agmatinase, mitochondrial; Agmatinase 9606.ENSP00000364992 LY6G6F 297 Lymphocyte antigen 6 complex locus protein G6f; May play a role in the downstream signal transduction pathways involving GRB2 and GRB7; LY6/PLAUR domain containing 9606.ENSP00000364995 SHC3 594 SHC-transforming protein 3; Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons; SH2 domain containing 9606.ENSP00000365005 MAP3K19 1328 Mitogen-activated protein kinase kinase kinase 19; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily 9606.ENSP00000365006 S1PR3 378 Sphingosine 1-phosphate receptor 3; Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis 9606.ENSP00000365007 DNAJC16 782 DnaJ heat shock protein family member C16 9606.ENSP00000365014 NXNL2 156 Nucleoredoxin-like protein 2; May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons; Nucleoredoxin family 9606.ENSP00000365016 IRS2 1338 Insulin receptor substrate 2; May mediate the control of various cellular processes by insulin; Pleckstrin homology domain containing 9606.ENSP00000365019 SPIN1 262 Spindlin-1; Chromatin reader that specifically recognizes and binds histone H3 both trimethylated at 'Lys-4' and asymmetrically dimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as an activator of Wnt signaling pathway downstream of PRMT2. In case of cancer, promotes cell cancer proliferation via activation of the Wnt signaling pathway. Overexpression induces metaphase arrest and chromosomal instability. Localizes to active rDNA loci and promotes the expression of rRNA genes. May play a role in cell-cycle regulation during the transition from gamete to embryo. Involved in oocyte [...] 9606.ENSP00000365024 LY6G5B 201 Lymphocyte antigen 6 family member G5B; LY6/PLAUR domain containing 9606.ENSP00000365042 CSNK2B 215 Casein kinase II subunit beta; Participates in Wnt signaling (By similarity). Plays a complex role in regulating the basal catalytic activity of the alpha subunit; Belongs to the casein kinase 2 subunit beta family 9606.ENSP00000365048 TNFSF13B 285 Tumor necrosis factor ligand superfamily member 13B; Cytokine that binds to TNFRSF13B/TACI and TNFRSF17/BCMA. TNFSF13/APRIL binds to the same 2 receptors. Together, they form a 2 ligands -2 receptors pathway involved in the stimulation of B- and T-cell function and the regulation of humoral immunity. A third B-cell specific BAFF-receptor (BAFFR/BR3) promotes the survival of mature B-cells and the B-cell response; CD molecules 9606.ENSP00000365063 ABHD13 337 Protein ABHD13; Abhydrolase domain containing 13 9606.ENSP00000365071 GPANK1 356 G-patch domain and ankyrin repeats 1 9606.ENSP00000365075 CELA2B 269 Chymotrypsin-like elastase family member 2B; Acts upon elastin; Belongs to the peptidase S1 family. Elastase subfamily 9606.ENSP00000365076 C6orf47 294 Uncharacterized protein C6orf47; Chromosome 6 open reading frame 47 9606.ENSP00000365080 FAM155A 458 Transmembrane protein FAM155A; Family with sequence similarity 155 member A 9606.ENSP00000365081 APOM 188 Apolipoprotein M; Probably involved in lipid transport. Can bind sphingosine-1-phosphate, myristic acid, palmitic acid and stearic acid, retinol, all-trans-retinoic acid and 9-cis-retinoic acid; Apolipoproteins 9606.ENSP00000365107 MASTL 879 Serine/threonine-protein kinase greatwall; Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and 'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity hig [...] 9606.ENSP00000365108 C9orf170 121 Uncharacterized protein C9orf170; Chromosome 9 open reading frame 170 9606.ENSP00000365116 CTRC 268 Chymotrypsin-C; Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity 9606.ENSP00000365130 ZCCHC6 1495 Terminal uridylyltransferase 7; Uridylyltransferase that mediates the terminal uridylation of mRNAs with short (less than 25 nucleotides) poly(A) tails, hence facilitating global mRNA decay. Involved in microRNA (miRNA)-induced gene silencing through uridylation of deadenylated miRNA targets. Also acts as a suppressor of miRNA biogenesis by mediating the terminal uridylation of some miRNA precursors, including that of let-7 (pre-let-7). Uridylated pre-let-7 RNA is not processed by Dicer and undergo degradation. Pre-let-7 uridylation is strongly enhanced in the presence of LIN28A. Due t [...] 9606.ENSP00000365131 BAG6 1132 Large proline-rich protein BAG6; ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins. Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains these client proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation. The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endo [...] 9606.ENSP00000365145 FOXS1 330 Forkhead box protein S1; Transcriptional repressor that suppresses transcription from the FASLG, FOXO3 and FOXO4 promoters. May have a role in the organization of the testicular vasculature (By similarity); Forkhead boxes 9606.ENSP00000365147 EFHD2 240 EF-hand domain-containing protein D2; May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance; EF-hand domain containing 9606.ENSP00000365159 ISCA1 129 Iron-sulfur cluster assembly 1 homolog, mitochondrial; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly; Belongs to the HesB/IscA family 9606.ENSP00000365160 NUDT11 164 Diphosphoinositol polyphosphate phosphohydrolase 3-beta; Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate; Belongs to the Nudix hydrolase family. DIPP subfamily 9606.ENSP00000365162 MYLK2 596 Myosin light chain kinase 2, skeletal/cardiac muscle; Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N- terminus of a myosin light chain 9606.ENSP00000365172 KDELC1 502 KDEL motif-containing protein 1; Glycosyltransferase family 90; Belongs to the KDELC family 9606.ENSP00000365173 C1orf195 126 Putative uncharacterized protein C1orf195; Chromosome 1 open reading frame 195 9606.ENSP00000365174 NUDT10 164 Diphosphoinositol polyphosphate phosphohydrolase 3-alpha; Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate; Nudix hydrolase family 9606.ENSP00000365188 SHROOM4 1493 Protein Shroom4; Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity); Belongs to the shroom family 9606.ENSP00000365198 KAZN 775 Kazrin; Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known; Sterile alpha motif domain containing 9606.ENSP00000365200 TEX30 227 Testis-expressed protein 30; Testis expressed 30 9606.ENSP00000365201 PRRC2A 2157 Protein PRRC2A; May play a role in the regulation of pre-mRNA splicing 9606.ENSP00000365210 CCNB3 1395 G2/mitotic-specific cyclin-B3; Cyclins are positive regulatory subunits of the cyclin- dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle, notably via their destruction during cell division. Its tissue specificity suggest that it may be required during early meiotic prophase I 9606.ENSP00000365227 AIF1 147 Allograft inflammatory factor 1; Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Promotes the proliferation of vascular smooth muscle cells and of T- lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation; EF-hand domain containing 9606.ENSP00000365233 TPP2 1249 Tripeptidyl-peptidase 2; Component of the proteolytic cascade acting downstream of the 26S proteasome in the ubiquitin-proteasome pathway. May be able to complement the 26S proteasome function to some extent under conditions in which the latter is inhibited. Stimulates adipogenesis (By similarity) 9606.ENSP00000365243 COX4I2 171 Cytochrome c oxidase subunit 4 isoform 2, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000365253 LRRC38 294 Leucine-rich repeat-containing protein 38; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium 9606.ENSP00000365255 ANKRD26 1710 Ankyrin repeat domain-containing protein 26; Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior; Ankyrin repeat domain containing 9606.ENSP00000365256 CLCN5 816 H(+)/Cl(-) exchange transporter 5; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function; Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily 9606.ENSP00000365261 LST1 104 Leukocyte-specific transcript 1 protein; Possible role in modulating immune responses. Induces morphological changes including production of filopodia and microspikes when overexpressed in a variety of cell types and may be involved in dendritic cell maturation. Isoform 1 and isoform 2 have an inhibitory effect on lymphocyte proliferation 9606.ENSP00000365266 PRAMEF17 474 PRAME family member 17; Belongs to the PRAME family 9606.ENSP00000365269 PRAMEF19 410 PRAME family member 19 9606.ENSP00000365272 DLG2 975 Disks large homolog 2; Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity); Membrane associated guanylate kinases 9606.ENSP00000365280 ID1 155 DNA-binding protein inhibitor ID-1; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the C [...] 9606.ENSP00000365295 FAM181B 426 Protein FAM181B; Family with sequence similarity 181 member B; Belongs to the FAM181 family 9606.ENSP00000365301 FGF14 252 Fibroblast growth factor 14; Probably involved in nervous system development and function; Belongs to the heparin-binding growth factors family 9606.ENSP00000365312 ABI1 508 Abl interactor 1; May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganization and EGFR signaling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Recrui [...] 9606.ENSP00000365318 NFKBIL1 381 NF-kappa-B inhibitor-like protein 1; Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli 9606.ENSP00000365320 PAGE1 146 PAGE family member 1 9606.ENSP00000365322 PRAMEF9 478 PRAME family member 9; Belongs to the PRAME family 9606.ENSP00000365351 ITGBL1 494 Integrin subunit beta like 1 9606.ENSP00000365360 PRAMEF6 476 PRAME family member 6; Belongs to the PRAME family 9606.ENSP00000365362 MCCD1 119 Mitochondrial coiled-coil domain 1 9606.ENSP00000365380 FOXP3 431 Forkhead box protein P3; Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases. The suppressive activity of T [...] 9606.ENSP00000365388 PDSS1 415 Decaprenyl-diphosphate synthase subunit 1; Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10; Belongs to the FPP/GGPP synthase family 9606.ENSP00000365395 AADACL4 407 Arylacetamide deacetylase-like 4; Arylacetamide deacetylase family 9606.ENSP00000365401 CCDC22 627 Coiled-coil domain-containing protein 22; Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF- kappa-B activity via association with COMMD1 and involving a CUL2- dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10. Plays a role in copper ion homeostasis. [...] 9606.ENSP00000365402 HLA-C 366 HLA class I histocompatibility antigen, Cw-7 alpha chain; Involved in the presentation of foreign antigens to the immune system; Belongs to the MHC class I family 9606.ENSP00000365407 ZNF549 640 Zinc finger protein 549; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000365411 APBB1IP 666 Amyloid beta A4 precursor protein-binding family B member 1-interacting protein; Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin- induced promoter activities through AP1 and SRE. Mediates Rap1- induced adhesion; Belongs to the MRL family 9606.ENSP00000365413 SLC28A3 691 Solute carrier family 28 member 3; Sodium-dependent, pyrimidine- and purine-selective. Involved in the homeostasis of endogenous nucleosides. Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine). Employs a 2:1 sodium/nucleoside ratio. Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine; Solute carriers 9606.ENSP00000365426 GGACT 153 Gamma-glutamylaminecyclotransferase; Contributes to degradation of proteins cross-linked by transglutaminases by degrading the cross-link between a lysine and a glutamic acid residue. Catalyzes the formation of 5-oxo-L- proline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L- gamma-glutamyl-alpha-amino acid substrates such as L-gamma- glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine; Belongs to the gamma-glutamylcyclotransferase family 9606.ENSP00000365433 TCF19 345 Transcription factor 19; Potential trans-activating factor that could play an important role in the transcription of genes required for the later stages of cell cycle progression; PHD finger proteins 9606.ENSP00000365435 TNFRSF1B 461 Tumor necrosis factor receptor superfamily member 1B; Receptor with high affinity for TNFSF2/TNF-alpha and approximately 5-fold lower affinity for homotrimeric TNFSF1/lymphotoxin-alpha. The TRAF1/TRAF2 complex recruits the apoptotic suppressors BIRC2 and BIRC3 to TNFRSF1B/TNFR2. This receptor mediates most of the metabolic effects of TNF-alpha. Isoform 2 blocks TNF-alpha-induced apoptosis, which suggests that it regulates TNF-alpha function by antagonizing its biological activity; CD molecules 9606.ENSP00000365437 GAD2 585 Glutamate decarboxylase 2; Catalyzes the production of GABA 9606.ENSP00000365439 HNRNPK 464 Heterogeneous nuclear ribonucleoprotein K; One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single- stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription [...] 9606.ENSP00000365441 CACNA1F 1977 Voltage-dependent L-type calcium channel subunit alpha-1F; Isoform 1: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long- lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepin [...] 9606.ENSP00000365451 OR4D1 310 Olfactory receptor 4D1; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000365462 PCCA 728 propionyl-CoA carboxylase alpha subunit 9606.ENSP00000365465 CDSN 529 Corneodesmosin; Important for the epidermal barrier integrity 9606.ENSP00000365473 MUC21 566 Mucin-21; Mucin 21, cell surface associated; Mucins 9606.ENSP00000365477 CCDC93 631 Coiled-coil domain-containing protein 93; Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C 9606.ENSP00000365486 DEFB123 67 Beta-defensin 123; Has antibacterial activity; Belongs to the beta-defensin family 9606.ENSP00000365492 DEFB119 88 Defensin beta 119 9606.ENSP00000365503 SHISA7 538 Protein shisa-7; Shisa family member 7 9606.ENSP00000365505 PLP2 152 Proteolipid protein 2; May play a role in cell differentiation in the intestinal epithelium 9606.ENSP00000365514 ZIC2 532 Zinc finger protein ZIC 2; Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5'- [...] 9606.ENSP00000365522 C9orf64 341 Queuosine salvage protein; Involved in salvaging queuosine 9606.ENSP00000365528 PTPRH 1115 Receptor-type tyrosine-protein phosphatase H; Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activati [...] 9606.ENSP00000365529 GPR158 1215 Probable G-protein coupled receptor 158; Orphan receptor; G protein-coupled receptors, Class C orphans 9606.ENSP00000365530 STXBP4 553 Syntaxin-binding protein 4; Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose (By similarity); PDZ domain containing 9606.ENSP00000365533 CLYBL 340 Citramalyl-CoA lyase, mitochondrial; Mitochondrial citramalyl-CoA lyase indirectly involved in the vitamin B12 metabolism. Converts citramalyl-CoA into acetyl-CoA and pyruvate in the C5- dicarboxylate catabolism pathway. The C5- dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite. Also acts as a malate synthase in vitro, converting glyoxylate and acetyl-CoA to malate. Also acts as a beta-methylmalate synthase in vitro, by mediating conversion of glyoxylate and propionyl-CoA to beta-methylmalate. Also has very weak citramalate synthase [...] 9606.ENSP00000365536 ENSG00000250232 292 PRA1 family protein; Uncharacterized protein; WD repeat domain phosphoinositide-interacting protein 4 9606.ENSP00000365550 GKAP1 366 G kinase anchoring protein 1; Belongs to the GKAP1 family 9606.ENSP00000365567 TM9SF2 663 Transmembrane 9 superfamily member 2; In the intracellular compartments, may function as a channel or small molecule transporter; Transmembrane 9 superfamily members 9606.ENSP00000365569 FLOT1 427 Flotillin-1; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles; Flotillins 9606.ENSP00000365576 UBQLN1 589 Ubiquilin-1; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin- proteasome system (UPS), autophagy and endoplasmic reticulum- associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome. Plays a role in the ERAD pathway via its interaction with ER-localized proteins UBXN4, VCP and HERPUD1 and may form a li [...] 9606.ENSP00000365585 FAM182B 152 Protein FAM182B; Family with sequence similarity 182 member B 9606.ENSP00000365588 MDC1 2089 Mediator of DNA damage checkpoint protein 1; Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be a [...] 9606.ENSP00000365596 GPR183 361 G-protein coupled receptor 183; G-protein coupled receptor expressed in lymphocytes that acts as a chemotactic receptor for B-cells, T-cells, splenic dendritic cells, monocytes/macrophages and astrocytes (By similarity). Receptor for oxysterol 7-alpha,25- dihydroxycholesterol (7-alpha,25-OHC) and other related oxysterols. Mediates cell positioning and movement of a number of cells by binding the 7- alpha,25-OHC ligand that forms a chemotactic gradient (By similarity). Binding of 7-alpha,25-OHC mediates the correct localization of B-cells during humoral immune responses (By similarity). [...] 9606.ENSP00000365601 IDNK 187 IDNK, gluconokinase 9606.ENSP00000365606 GRIPAP1 841 GRIP1-associated protein 1; Regulates the endosomal recycling back to the neuronal plasma membrane, possibly by connecting early and late recycling endosomal domains and promoting segregation of recycling endosomes from early endosomal membranes. Involved in the localization of recycling endosomes to dendritic spines, thereby playing a role in the maintenance of dendritic spine morphology. Required for the activity-induced AMPA receptor recycling to dendrite membranes and for long-term potentiation and synaptic plasticity (By similarity) 9606.ENSP00000365619 ZNF337 751 Zinc finger protein 337; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000365625 DHX16 1041 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16; Probable ATP-binding RNA helicase involved in pre-mRNA splicing; Belongs to the DEAD box helicase family. DEAH subfamily. DDX16/PRP8 sub-subfamily 9606.ENSP00000365630 RASEF 740 Ras and EF-hand domain-containing protein; Binds predominantly GDP, and also GTP; EF-hand domain containing 9606.ENSP00000365637 KIAA1217 1943 Sickle tail protein homolog; Required for normal development of intervertebral disks 9606.ENSP00000365643 DOCK9 2068 Dedicator of cytokinesis protein 9; Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP. Overexpression induces filopodia formation; Belongs to the DOCK family 9606.ENSP00000365651 NPPB 134 Natriuretic peptides B; Cardiac hormone which may function as a paracrine antifibrotic factor in the heart. Also plays a key role in cardiovascular homeostasis through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3; Belongs to the natriuretic peptide family 9606.ENSP00000365663 NPPA 151 Natriuretic peptides A; Hormone playing a key role in cardiovascular homeostasis through regulation of natriuresis, diuresis, and vasodilation. Also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus. Specifically binds and stimulates the cGMP production of the NPR1 receptor. Binds the clearance receptor NPR3; Belongs to the natriuretic peptide family 9606.ENSP00000365678 OTUD1 481 OTU domain-containing protein 1; Deubiquitinating enzyme that specifically hydrolyzes 'Lys-63'-linked polyubiquitin to monoubiquitin; OTU domain containing 9606.ENSP00000365682 TLE1 770 Transducin-like enhancer protein 1; Transcriptional corepressor that binds to a number of transcription factors. Inhibits NF-kappa-B-regulated gene expression. Inhibits the transcriptional activation mediated by FOXA2, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Unusual function as coactivator for ESRRG; Belongs to the WD repeat Groucho/TLE family 9606.ENSP00000365686 SLC15A1 708 Solute carrier family 15 member 1; Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. May constitute a major route for the absorption of protein digestion end-products; Solute carriers 9606.ENSP00000365687 PTF1A 328 Pancreas transcription factor 1 subunit alpha; Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an impor [...] 9606.ENSP00000365692 PIM2 311 Serine/threonine-protein kinase pim-2; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression, the regulation of cap-dependent protein translation and through survival signaling by phosphorylation of a pro-apoptotic protein, BAD. Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase transcriptional activity. The stabilization of MYC exerted by PIM2 might explain partly the s [...] 9606.ENSP00000365693 MSRB2 182 Methionine-R-sulfoxide reductase B2, mitochondrial; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post- translational modification that takes place on specific residue. Upon oxidative stress, may play a role in the preservation of mitochondrial integrity by decreasing the intracellular reactive oxygen species build-up through its scavenging role, hence contributing to cell survival and protein main [...] 9606.ENSP00000365694 PPP1R10 940 Serine/threonine-protein phosphatase 1 regulatory subunit 10; Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G) [...] 9606.ENSP00000365714 TTYH1 460 Protein tweety homolog 1; Probable chloride channel. May be involved in cell adhesion (By similarity) 9606.ENSP00000365720 TLE4 805 Transducin-like enhancer protein 4; Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by PAX5, and by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES. Essential for the transcriptional repressor activity of SIX3 during retina and lens development and for SIX3 transcriptional auto-repression (By similarity); Belongs to the WD repeat Groucho/TLE family 9606.ENSP00000365725 ABHD12 404 Monoacylglycerol lipase ABHD12; Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2- arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways; Abhydrolase domain containing 9606.ENSP00000365730 STK24 443 Serine/threonine-protein kinase 24; Serine/threonine-protein kinase that acts on both serine and threonine residues and promotes apoptosis in response to stress stimuli and caspase activation. Mediates oxidative-stress- induced cell death by modulating phosphorylation of JNK1-JNK2 (MAPK8 and MAPK9), p38 (MAPK11, MAPK12, MAPK13 and MAPK14) during oxidative stress. Plays a role in a staurosporine-induced caspase- independent apoptotic pathway by regulating the nuclear translocation of AIFM1 and ENDOG and the DNase activity associated with ENDOG. Phosphorylates STK38L on 'Thr-442' and sti [...] 9606.ENSP00000365744 PRR3 188 Proline-rich protein 3; Zinc fingers CCCH-type 9606.ENSP00000365745 CTTN 634 Src substrate cortactin; Cortactin 9606.ENSP00000365756 KIAA2013 634 Uncharacterized protein KIAA2013; KIAA2013 9606.ENSP00000365757 PIP4K2A 406 Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha; Catalyzes the phosphorylation of phosphatidylinositol 5- phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus signals through ING2. May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation. May negatively regulate insulin- stimulated glucose uptake by lowering the levels o [...] 9606.ENSP00000365773 PSAT1 370 Phosphoserine aminotransferase; Catalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine; Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily 9606.ENSP00000365777 MTHFR 656 Methylenetetrahydrofolate reductase; Catalyzes the conversion of 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co- substrate for homocysteine remethylation to methionine 9606.ENSP00000365782 CEP78 722 Centrosomal protein of 78 kDa; May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles. May play a role in cilium biogenesis 9606.ENSP00000365806 GNL1 607 Guanine nucleotide-binding protein-like 1; Possible regulatory or functional link with the histocompatibility cluster 9606.ENSP00000365807 GNA14 355 Guanine nucleotide-binding protein subunit alpha-14; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems; G protein subunits alpha, group q 9606.ENSP00000365811 SPAG6 509 Sperm-associated antigen 6; Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility; Armadillo repeat containing 9606.ENSP00000365817 HLA-E 358 HLA class I histocompatibility antigen, alpha chain E; Preferably binds to a peptide derived from the signal sequence of most HLA-A, -B, -C and -G molecules; Belongs to the MHC class I family 9606.ENSP00000365830 SOWAHC 525 Ankyrin repeat domain-containing protein SOWAHC; Sosondowah ankyrin repeat domain family member C; Belongs to the SOWAH family 9606.ENSP00000365837 PUS1 427 tRNA pseudouridine synthase A; Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity); Belongs to the tRNA pseudouridine synthase TruA family 9606.ENSP00000365838 DPRX 191 Divergent paired-related homeobox; Putative transcription factor; PRD class homeoboxes and pseudogenes 9606.ENSP00000365840 ENTPD6 484 Ectonucleoside triphosphate diphosphohydrolase 6; Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5'-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity); Belongs to the GDA1/CD39 NTPase family 9606.ENSP00000365844 TRIM39 518 E3 ubiquitin-protein ligase TRIM39; E3 ubiquitin-protein ligase. May facilitate apoptosis by inhibiting APC/C-Cdh1-mediated poly-ubiquitination and subsequent proteasome-mediated degradation of the pro-apoptotic protein MOAP1; Ring finger proteins 9606.ENSP00000365851 BMI1 326 Polycomb complex protein BMI-1; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A. In the PRC1-like complex, regulates the E3 u [...] 9606.ENSP00000365858 GATA1 413 Erythroid transcription factor; Transcriptional activator or repressor which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS; GATA zinc finger domain containing 9606.ENSP00000365883 NUDT8 236 Nucleoside diphosphate-linked moiety X motif 8; Probably mediates the hydrolysis of some nucleoside diphosphate derivatives; Nudix hydrolase family 9606.ENSP00000365884 TRIM15 465 Tripartite motif containing 15; Belongs to the TRIM/RBCC family 9606.ENSP00000365891 WAS 502 Wiskott-Aldrich syndrome protein; Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria; Wiskott-Aldrich Syndrome protein family 9606.ENSP00000365895 HS6ST3 471 Heparan-sulfate 6-O-sulfotransferase 3; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate; Sulfotransferases, membrane bound 9606.ENSP00000365898 FOXB2 432 Forkhead box protein B2; Transcription factor; Forkhead boxes 9606.ENSP00000365899 VSX1 365 Visual system homeobox 1; Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development; Belongs to the paired homeobox family 9606.ENSP00000365908 PRUNE2 3088 Protein prune homolog 2; May play an important role in regulating differentiation, survival and aggressiveness of the tumor cells; BCH domain containing 9606.ENSP00000365919 WDR13 485 WD repeat-containing protein 13; WD repeat domain containing 9606.ENSP00000365924 TRIM31 425 E3 ubiquitin-protein ligase TRIM31; Regulator of Src-induced anchorage independent cell growth (By similarity). May have E3 ubiquitin-protein ligase activity; Ring finger proteins 9606.ENSP00000365926 RFK 155 Riboflavin kinase; Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase 9606.ENSP00000365931 SP2 613 Transcription factor Sp2; Binds to GC box promoters elements and selectively activates mRNA synthesis from genes that contain functional recognition sites; Belongs to the Sp1 C2H2-type zinc-finger protein family 9606.ENSP00000365938 UGGT2 1516 UDP-glucose:glycoprotein glucosyltransferase 2; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation (By similarity); Belongs to the glycosyltransferase 8 family 9606.ENSP00000365944 FBXO6 293 F-box only protein 6; Substrate-recognition component of some SCF (SKP1-CUL1- F-box protein)-type E3 ubiquitin ligase complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins, which are modified with not only high-mannose but also complex- type oligosaccharides. Also recognizes sulfated glycans. Also involved [...] 9606.ENSP00000365950 RBM3 157 RNA-binding protein 3; Cold-inducible mRNA binding protein that enhances global protein synthesis at both physiological and mild hypothermic temperatures. Reduces the relative abundance of microRNAs, when overexpressed. Enhances phosphorylation of translation initiation factors and active polysome formation (By similarity) 9606.ENSP00000365961 FBXO44 255 F-box only protein 44; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000365962 TBC1D25 688 TBC1 domain family member 25; Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes 9606.ENSP00000365963 PPP1R11 126 Protein phosphatase 1 regulatory subunit 11; Inhibitor of protein phosphatase 1; Cilia and flagella associated 9606.ENSP00000366006 UBIAD1 338 UbiA prenyltransferase domain-containing protein 1; Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2- methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independe [...] 9606.ENSP00000366015 ANGPTL7 346 Angiopoietin-related protein 7; Fibrinogen C domain containing; Angiopoietin like 9606.ENSP00000366030 C9orf41 409 Carnosine N-methyltransferase; N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L- histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA- His) 9606.ENSP00000366032 COMMD3 195 COMM domain-containing protein 3; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B. Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits 9606.ENSP00000366036 TBC1D8 1140 TBC1 domain family member 8; May act as a GTPase-activating protein for Rab family protein(s); GRAM domain containing 9606.ENSP00000366047 KLK6 244 Kallikrein-6; Serine protease which exhibits a preference for Arg over Lys in the substrate P1 position and for Ser or Pro in the P2 position. Shows activity against amyloid precursor protein, myelin basic protein, gelatin, casein and extracellular matrix proteins such as fibronectin, laminin, vitronectin and collagen. Degrades alpha-synuclein and prevents its polymerization, indicating that it may be involved in the pathogenesis of Parkinson disease and other synucleinopathies. May be involved in regulation of axon outgrowth following spinal cord injury. Tumor cells treated with a neu [...] 9606.ENSP00000366050 C9orf40 194 Uncharacterized protein C9orf40; Chromosome 9 open reading frame 40 9606.ENSP00000366058 SYNDIG1 258 Synapse differentiation-inducing gene protein 1; May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation; Belongs to the CD225/Dispanin family 9606.ENSP00000366061 NMS 153 Neuromedin-S; Implicated in the regulation of circadian rhythms through autocrine and/or paracrine actions; Endogenous ligands 9606.ENSP00000366070 RILPL1 403 RILP-like protein 1; Plays a role in the regulation of cell shape and polarity. Plays a role in cellular protein transport, including protein transport away from primary cilia. Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus. Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution; Belongs to the RILPL family 9606.ENSP00000366084 ABCC4 1325 Multidrug resistance-associated protein 4; May be an organic anion pump relevant to cellular detoxification; ATP binding cassette subfamily C 9606.ENSP00000366093 RORB 459 Nuclear receptor ROR-beta; Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated p [...] 9606.ENSP00000366095 MOG 252 Myelin-oligodendrocyte glycoprotein; Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell- cell communication; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000366098 YIF1A 293 Protein YIF1A; Possible role in transport between endoplasmic reticulum and Golgi; Belongs to the YIF1 family 9606.ENSP00000366109 ANXA1 346 Annexin A1; Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity. Plays a role in glucocorticoid-mediated down- regulation of the early phase of the inflammatory response (By similarity). Promotes resolution of inflammation and wound healing. Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades. Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors. Contributes to the adapt [...] 9606.ENSP00000366118 SSX1 188 Protein SSX1; Could act as a modulator of transcription; Belongs to the SSX family 9606.ENSP00000366135 EXOSC10 885 Exosome component 10; Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. [...] 9606.ENSP00000366144 SOX21 276 Transcription factor SOX-21; May play a role as an activator of transcription of OPRM1; SRY-boxes 9606.ENSP00000366153 ZNF81 661 Zinc finger protein 81; May be involved in transcriptional regulation; X-linked mental retardation 9606.ENSP00000366156 SRM 302 Spermidine synthase; Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3-diaminopropane. Has extremely low activity towards spermidine 9606.ENSP00000366157 GPR180 440 Integral membrane protein GPR180; G protein-coupled receptor 180 9606.ENSP00000366170 CST9 159 Cystatin-9; May be involved in testis development (By similarity). May play a role in hematopoietic differentiation or inflammation. Has immunomodulatory and antimicrobial functions against Francisella tularensis, a Gram-negative bacteria; Belongs to the cystatin family 9606.ENSP00000366173 CBY3 242 Chibby family member 3 9606.ENSP00000366178 CST9L 147 Cystatin-9-like; Cystatins, type 2; Belongs to the cystatin family 9606.ENSP00000366179 DNAJC1 554 DnaJ homolog subfamily C member 1; May modulate protein synthesis; DNAJ heat shock proteins 9606.ENSP00000366203 C1orf127 823 Uncharacterized protein C1orf127; Chromosome 1 open reading frame 127 9606.ENSP00000366208 CST11 138 Cystatin-11; Has antibacterial activity against the Gram-negative bacteria E.coli. May play a role in sperm maturation and fertilization; Belongs to the cystatin family 9606.ENSP00000366221 CASZ1 1759 Zinc finger protein castor homolog 1; Transcriptional activator. Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7; Zinc fingers C2H2-type 9606.ENSP00000366223 C9orf57 161 Uncharacterized protein C9orf57; Chromosome 9 open reading frame 57 9606.ENSP00000366233 GABBR1 961 Gamma-aminobutyric acid type B receptor subunit 1; Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Within the heterodimeric GABA receptor, only GABBR1 seems to bind agonists, while GABBR2 mediates coupling to G proteins. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase, stimulates phospholipase A2, activates potassium channels, inactivates voltage-depend [...] 9606.ENSP00000366234 IL31 164 Interleukin-31; Activates STAT3 and possibly STAT1 and STAT5 through the IL31 heterodimeric receptor composed of IL31RA and OSMR. May function in skin immunity. Enhances myeloid progenitor cell survival in vitro (By similarity). Induces RETNLA and serum amyloid A protein expression in macrophages (By similarity); Interleukins 9606.ENSP00000366237 DFFA 331 DNA fragmentation factor subunit alpha; Inhibitor of the caspase-activated DNase (DFF40) 9606.ENSP00000366240 ABHD17B 293 Protein ABHD17B; Abhydrolase domain containing 17B; Belongs to the AB hydrolase superfamily. ABHD17 family 9606.ENSP00000366243 TMEM2 1383 Cell surface hyaluronidase; Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 5 kDa fragments. Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity). Is very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate 9606.ENSP00000366246 GPC6 555 Glypican-6; Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity). Enhances migration and invasion of cancer cells through WNT5A signaling; Belongs to the glypican family 9606.ENSP00000366248 CORT 105 Cortistatin; Binds to all human somatostatin receptor (SSTR) subtypes. It also inhibits cAMP production induced by forskolin through SSTRs; Endogenous ligands 9606.ENSP00000366249 UBD 165 Ubiquitin D; Ubiquitin-like protein modifier which can be covalently attached to target protein and subsequently leads to their degradation by the 26S proteasome, in a NUB1-dependent manner. Probably functions as a survival factor. Conjugation ability activated by UBA6. Promotes the expression of the proteasome subunit beta type-9 (PSMB9/LMP2). Regulates TNF-alpha-induced and LPS-mediated activation of the central mediator of innate immunity NF-kappa-B by promoting TNF-alpha-mediated proteasomal degradation of ubiquitinated-I-kappa-B-alpha. Required for TNF-alpha-induced p65 nuclear tr [...] 9606.ENSP00000366265 ZNF41 779 Zinc finger protein 41; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000366267 GPC5 572 Glypican-5; Cell surface proteoglycan that bears heparan sulfate; Belongs to the glypican family 9606.ENSP00000366271 KDM2B 1336 Lysine-specific demethylase 2B; Histone demethylase that demethylates 'Lys-4' and 'Lys- 36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation. May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin lig [...] 9606.ENSP00000366273 ZNF157 506 Zinc finger protein 157; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000366275 CNNM4 775 Metal transporter CNNM4; Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function 9606.ENSP00000366280 LMAN2L 359 VIP36-like protein; May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53 9606.ENSP00000366283 SLITRK5 958 SLIT and NTRK-like protein 5; Suppresses neurite outgrowth; Belongs to the SLITRK family 9606.ENSP00000366288 SLITRK1 696 SLIT and NTRK-like protein 1; It is involved in synaptogenesis and promotes excitatory synapse differentiation. Enhances neuronal dendrite outgrowth 9606.ENSP00000366299 SLC25A39 359 Solute carrier family 25 member 39; Required for normal heme biosynthesis; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000366306 SPRY2 315 Protein sprouty homolog 2; May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis; Belongs to the sprouty family 9606.ENSP00000366307 THBD 575 Thrombomodulin; Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated; C-type lectin domain containing 9606.ENSP00000366314 TRPM3 1707 Transient receptor potential cation channel subfamily M member 3; Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation; Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily 9606.ENSP00000366317 CASC10 136 Protein CASC10; Cancer susceptibility 10 9606.ENSP00000366326 NEBL 1014 Nebulette; Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres. Isoform 2 might play a role in the assembly of focal adhesion; LIM domain containing 9606.ENSP00000366330 KLF9 244 Krueppel-like factor 9; Transcription factor that binds to GC box promoter elements. Selectively activates mRNA synthesis from genes containing tandem repeats of GC boxes but represses genes with a single GC box. Acts as an epidermal circadian transcription factor regulating keratinocyte proliferation; Belongs to the Sp1 C2H2-type zinc-finger protein family 9606.ENSP00000366331 MAS1L 378 Mas-related G-protein coupled receptor MRG; MAS1 proto-oncogene like, G protein-coupled receptor 9606.ENSP00000366340 OR2H1 316 Olfactory receptor 2H1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000366347 NKX2-2 273 Homeobox protein Nkx-2.2; Acts as a transcriptional activator. Required for the maintenance of NEUROD1 expression in the horomone-producing endocrine cells of the pancreas. May be involved in specifying diencephalic neuromeric boundaries, and in controlling the expression of genes that play a role in axonal guidance. Associates with chromatin at the NEUROD1 promoter region. Binds to a subset of consensus elements within the NEUROD1 promoter (By similarity); Belongs to the NK-2 homeobox family 9606.ENSP00000366354 OR11A1 315 Olfactory receptor 11A1; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000366359 OR5V1 321 Olfactory receptor 5V1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000366365 OR14J1 321 Olfactory receptor 14J1; Odorant receptor; Olfactory receptors, family 14 9606.ENSP00000366372 OR2J2 312 Olfactory receptor 2J2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000366374 OR2J3 311 Olfactory receptor 2J3; Odorant receptor involved in the detection of the flavor compound cis-3-hexen-1-ol (C3HEX), a compound typically described as 'green grassy' or the smell of 'cut grass'; Olfactory receptors, family 2 9606.ENSP00000366378 OR2B3 313 Putative olfactory receptor 2B3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000366380 OR2W1 320 Olfactory receptor 2W1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000366384 ZNF311 666 Zinc finger protein 311; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000366387 MAMDC2 686 MAM domain containing 2 9606.ENSP00000366390 SPDYC 293 Speedy protein C; Promotes progression through the cell cycle via binding and activation of CDK1 and CDK2. Involved in the spindle-assembly checkpoint. Required for recruitment of MAD2L1, BUBR1 and BUB1 to kinetochores. Required for the correct localization of the active form of Aurora B in prometaphase; Speedy/RINGO cell cycle regulator family 9606.ENSP00000366395 SYVN1 617 E3 ubiquitin-protein ligase synoviolin; Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from [...] 9606.ENSP00000366396 XRN2 950 5'-3' exoribonuclease 2; Possesses 5'->3' exoribonuclease activity (By similarity). May promote the termination of transcription by RNA polymerase II. During transcription termination, cleavage at the polyadenylation site liberates a 5' fragment which is subsequently processed to form the mature mRNA and a 3' fragment which remains attached to the elongating polymerase. The processive degradation of this 3' fragment by this protein may promote termination of transcription. Binds to RNA polymerase II (RNAp II) transcription termination R-loops formed by G-rich pause sites 9606.ENSP00000366402 C9orf135 229 Protein C9orf135; Chromosome 9 open reading frame 135 9606.ENSP00000366404 TRIM27 513 Zinc finger protein RFP; E3 ubiquitin-protein ligase that mediates ubiquitination of PIK3C2B and inhibits its activity; mediates the formation of 'Lys-48'-linked polyubiquitin chains; the function inhibits CD4 T- cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly. Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspas [...] 9606.ENSP00000366410 NMNAT1 279 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less [...] 9606.ENSP00000366413 POU4F1 419 POU domain, class 4, transcription factor 1; Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects neu [...] 9606.ENSP00000366416 EDNRB 532 Endothelin receptor type B; Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily 9606.ENSP00000366430 LZIC 190 Protein LZIC; Leucine zipper and CTNNBIP1 domain containing 9606.ENSP00000366434 UIMC1 719 BRCA1-A complex subunit RAP80; Ubiquitin-binding protein. Specifically recognizes and binds 'Lys-63'-linked ubiquitin. Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. M [...] 9606.ENSP00000366452 SNX15 342 Sorting nexin-15; May be involved in several stages of intracellular trafficking. Overexpression of SNX15 disrupts the normal trafficking of proteins from the plasma membrane to recycling endosomes or the TGN; Sorting nexins 9606.ENSP00000366460 PLXDC2 529 Plexin domain-containing protein 2; May play a role in tumor angiogenesis; Belongs to the plexin family 9606.ENSP00000366465 ZKSCAN3 538 Zinc finger protein with KRAB and SCAN domains 3; Transcriptional factor that binds to the consensus sequence 5'-[GT][AG][AGT]GGGG-3' and acts as a repressor of autophagy. Specifically represses expression of genes involved in autophagy and lysosome biogenesis/function such as MAP1LC3B, ULK1 or WIPI2. Associates with chromatin at the ITGB4 and VEGF promoters. Also acts as a transcription activator and promotes cancer cell progression and/or migration in various tumors and myelomas; SCAN domain containing 9606.ENSP00000366474 CTNNBIP1 81 Beta-catenin-interacting protein 1; Prevents the interaction between CTNNB1 and TCF family members, and acts as negative regulator of the Wnt signaling pathway; Belongs to the CTNNBIP1 family 9606.ENSP00000366475 ATG2A 1938 Autophagy-related protein 2 homolog A; Required for both autophagosome formation and regulation of lipid droplet morphology and dispersion; Belongs to the ATG2 family 9606.ENSP00000366482 FXN 210 Frataxin, mitochondrial; Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only [...] 9606.ENSP00000366487 ARL5B 179 ADP-ribosylation factor-like protein 5B; Binds and exchanges GTP and GDP; ARF GTPase family 9606.ENSP00000366488 PRKACG 351 cAMP-dependent protein kinase catalytic subunit gamma; Phosphorylates a large number of substrates in the cytoplasm and the nucleus; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily 9606.ENSP00000366506 HRH2 397 Histamine H2 receptor; The H2 subclass of histamine receptors mediates gastric acid secretion. Also appears to regulate gastrointestinal motility and intestinal secretion. Possible role in regulating cell growth and differentiation. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and, through a separate G protein-dependent mechanism, the phosphoinositide/protein kinase (PKC) signaling pathway (By similarity); Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000366509 ZKSCAN4 545 Zinc finger protein with KRAB and SCAN domains 4; May be involved in the transcriptional activation of MDM2 and EP300 genes; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000366513 CLSTN1 981 Calsyntenin-1; Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2- mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transac [...] 9606.ENSP00000366519 NSUN6 469 Putative methyltransferase NSUN6; May have S-adenosyl-L-methionine-dependent methyl- transferase activity; NOP2/Sun RNA methyltransferase family 9606.ENSP00000366522 ARHGAP39 1114 Rho GTPase activating protein 39 9606.ENSP00000366525 FTL 175 Ferritin light chain; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity); Belongs to the ferritin family 9606.ENSP00000366527 ZSCAN16 348 Zinc finger and SCAN domain-containing protein 16; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000366528 TMEM252 170 Transmembrane protein 252 9606.ENSP00000366534 FOXH1 365 Forkhead box protein H1; Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element); Forkhead boxes 9606.ENSP00000366542 ZNF165 485 Zinc finger protein 165; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000366549 ST3GAL5 418 Lactosylceramide alpha-2,3-sialyltransferase; Catalyzes the formation of ganglioside GM3 (alpha-N- acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D- glucosylceramide); Sialyltransferases 9606.ENSP00000366557 CRNKL1 848 Crooked neck-like protein 1; Involved in pre-mRNA splicing process; Belongs to the crooked-neck family 9606.ENSP00000366563 PIK3CD 1044 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform; Phosphoinositide-3-kinase (PI3K) that phosphorylates PftdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell recept [...] 9606.ENSP00000366565 VPS28 233 Vacuolar protein sorting-associated protein 28 homolog; Component of the ESCRT-I complex, a regulator of vesicular trafficking process 9606.ENSP00000366582 FAM196B 535 Protein FAM196B; Family with sequence similarity 196 member B; Belongs to the FAM196 family 9606.ENSP00000366586 SLC39A12 691 Zinc transporter ZIP12; Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia; Belongs to the ZIP transporter (TC 2.A.5) family 9606.ENSP00000366604 SF1 673 Splicing factor 1; Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor; Spliceosomal A complex 9606.ENSP00000366608 CBWD7 395 COBW domain-containing protein 6; COBW domain containing 7; Belongs to the SIMIBI class G3E GTPase family. CobW subfamily 9606.ENSP00000366612 CBWD5 347 COBW domain-containing protein 3; COBW domain containing 5 9606.ENSP00000366617 CBWD1 395 COBW domain containing 1 9606.ENSP00000366618 HIST1H2BL 126 Histone H2B type 1-L; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000366628 GPR157 335 G-protein coupled receptor 157; Orphan receptor that promotes neuronal differentiation of radial glial progenitors (RGPs). The activity of this receptor is mediated by a G(q)-protein that activates a phosphatidylinositol-calcium second messenger; 7TM orphan receptors 9606.ENSP00000366630 FOXD4L4 416 Forkhead box D4 like 4 9606.ENSP00000366637 FOXD4L5 416 Forkhead box D4 like 5 9606.ENSP00000366641 SLC2A5 501 Solute carrier family 2, facilitated glucose transporter member 5; Functions as a fructose transporter that has only low activity with other monosaccharides. Can mediate the uptake of 2-deoxyglucose, but with low efficiency. Essential for fructose uptake in the small intestine. Plays a role in the regulation of salt uptake and blood pressure in response to dietary fructose. Required for the development of high blood pressure in response to high dietary fructose intake (By similarity); Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transport [...] 9606.ENSP00000366645 SCP2D1 156 SCP2 sterol-binding domain-containing protein 1; SCP2 sterol binding domain containing 1 9606.ENSP00000366654 CA6 313 Carbonic anhydrase 6; Reversible hydration of carbon dioxide. Its role in saliva is unknown; Carbonic anhydrases 9606.ENSP00000366672 DTD1 209 D-aminoacyl-tRNA deacylase 1; Possible ATPase involved in DNA replication, may facilitate loading of CDC45 onto pre-replication complexes 9606.ENSP00000366673 CLN5 407 Ceroid-lipofuscinosis neuronal protein 5; Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane 9606.ENSP00000366679 HIST1H2AH 128 Histone H2A type 1-H; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000366682 IRG1 481 Cis-aconitate decarboxylase; Involved in the inhibition of the inflammatory response. Acts as a negative regulator of the Toll-like receptors (TLRs)- mediated inflammatory innate response by stimulating the tumor necrosis factor alpha-induced protein TNFAIP3 expression via reactive oxygen species (ROS) in LPS-tolerized macrophages. Involved in antimicrobial response of innate immune cells; ACOD1- mediated itaconic acid production contributes to the antimicrobial activity of macrophages. Plays a role in the embryo implantation 9606.ENSP00000366690 SPATC1 591 Speriolin; Spermatogenesis and centriole associated 1; Belongs to the speriolin family 9606.ENSP00000366694 KCTD12 325 BTB/POZ domain-containing protein KCTD12; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity) 9606.ENSP00000366702 ERRFI1 462 ERBB receptor feedback inhibitor 1; Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus [...] 9606.ENSP00000366715 TMEM236 351 Transmembrane protein 236 9606.ENSP00000366746 STAM 540 Signal transducing adapter molecule 1; Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes 9606.ENSP00000366748 AUP1 410 AUP1, lipid droplet regulating VLDL assembly factor 9606.ENSP00000366765 FAM27C 67 Protein FAM27A/B/C; Family with sequence similarity 27 member C; Belongs to the FAM27 family 9606.ENSP00000366789 LBX2 198 Transcription factor LBX2; Putative transcription factor; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000366797 SLC22A12 553 Solute carrier family 22 member 12; Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family 9606.ENSP00000366798 HMGN4 90 High mobility group nucleosomal binding domain 4; Belongs to the HMGN family 9606.ENSP00000366800 DNAJC11 559 DnaJ homolog subfamily C member 11; Isoform 1: Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex; Belongs to the DNAJC11 family 9606.ENSP00000366819 UCHL3 230 Ubiquitin carboxyl-terminal hydrolase isozyme L3; Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3", and exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 [...] 9606.ENSP00000366826 ANKRD20A2 823 Ankyrin repeat domain-containing protein 20A2; Ankyrin repeat domain 20 family member A2 9606.ENSP00000366827 ST8SIA6 398 Alpha-2,8-sialyltransferase 8F; Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc- alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups (By similarity); Sialyltransferases 9606.ENSP00000366828 POLR3F 316 DNA-directed RNA polymerase III subunit RPC6; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct RNA Pol III binding to the TFIIIB-DNA complex. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRN [...] 9606.ENSP00000366843 ATXN2 1313 Ataxin-2; Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane; Ataxins 9606.ENSP00000366863 TBC1D4 1298 TBC1 domain family member 4; May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake 9606.ENSP00000366875 SPATA31A1 1347 Spermatogenesis-associated protein 31A1; May play a role in spermatogenesis 9606.ENSP00000366876 PHF13 300 PHD finger protein 13; Modulates chromatin structure. Required for normal chromosome condensation during the early stages of mitosis. Required for normal chromosome separation during mitosis; PHD finger proteins 9606.ENSP00000366886 KLHL21 597 Kelch-like protein 21; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for efficient chromosome alignment and cytokinesis. The BCR(KLHL21) E3 ubiquitin ligase complex regulates localization of the chromosomal passenger complex (CPC) from chromosomes to the spindle midzone in anaphase and mediates the ubiquitination of AURKB. Ubiquitination of AURKB by BCR(KLHL21) E3 ubiquitin ligase complex may not lead to its degradation by the proteasome; BTB domain containing 9606.ENSP00000366897 KLF12 402 Krueppel-like factor 12; Confers strong transcriptional repression to the AP-2- alpha gene. Binds to a regulatory element (A32) in the AP-2-alpha gene promoter; Belongs to the Sp1 C2H2-type zinc-finger protein family 9606.ENSP00000366898 HIF3A 669 Hypoxia-inducible factor 3-alpha; Isoform 5: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation; Basic helix-loop-helix proteins 9606.ENSP00000366901 FAM216A 273 Protein FAM216A; Family with sequence similarity 216 member A; Belongs to the FAM216 family 9606.ENSP00000366902 ZBTB48 688 Telomere zinc finger-associated protein; Telomere-binding protein that acts as a regulator of telomere length. Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat. Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres. Also acts as a transcription regulator that binds to promoter regions. Regulates expression of a small subset of genes, including MTFP1. Regulates expression the J and/or S elements i [...] 9606.ENSP00000366915 KLF5 457 Krueppel-like factor 5; Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes; Kruppel like factors 9606.ENSP00000366923 IGFBPL1 278 Insulin-like growth factor-binding protein-like 1; IGF-binding proteins prolong the half-life of IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs in cell culture. They alter the interaction of IGFs with their cell surface receptors (By similarity). May be a putative tumor suppressor protein; I-set domain containing 9606.ENSP00000366926 IGFL4 124 IGF like family member 4; Belongs to the IGFL family 9606.ENSP00000366927 ALDH1B1 517 Aldehyde dehydrogenase X, mitochondrial; ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation 9606.ENSP00000366934 NOL9 702 Polynucleotide 5'-hydroxyl-kinase NOL9; Polynucleotide 5'-kinase involved in rRNA processing. The kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. In vitro, has both DNA and RNA 5'-kinase activities. Probably binds RNA; Belongs to the Clp1 family. NOL9/GRC3 subfamily 9606.ENSP00000366936 SHB 509 SH2 domain-containing adapter protein B; Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic- FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells; SH2 domain containing 9606.ENSP00000366939 MGME1 344 Mitochondrial genome maintenance exonuclease 1; Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hyd [...] 9606.ENSP00000366942 SLC36A3 511 Proton-coupled amino acid transporter 3; Solute carrier family 36 member 3 9606.ENSP00000366945 SLC25A51 297 Solute carrier family 25 member 51 9606.ENSP00000366950 KRTAP9-2 174 Keratin-associated protein 9-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000366953 DCAF10 559 DDB1- and CUL4-associated factor 10; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000366955 KRTAP4-2 136 Keratin-associated protein 4-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000366956 HIST1H4H 103 Histone cluster 1 H4 family member h; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000366962 HIST1H2BI 126 Histone cluster 1 H2B family member i; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000366970 GPR20 358 G-protein coupled receptor 20; Orphan receptor with constitutive G(i) signaling activity that activate cyclic AMP; G protein-coupled receptors, Class A orphans 9606.ENSP00000366974 HIST1H4B 103 Histone cluster 1 H4 family member b; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000366976 KRTAP1-4 121 Keratin-associated protein 1-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000366984 KRT40 431 Keratin, type I cytoskeletal 40; May play a role in late hair differentiation; Belongs to the intermediate filament family 9606.ENSP00000366997 DIS3 958 Exosome complex exonuclease RRP44; Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to t [...] 9606.ENSP00000366998 SNX5 404 Sorting nexin-5; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3- phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called e [...] 9606.ENSP00000366999 HIST1H3D 136 Histone cluster 1 H3 family member d; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000367001 DPP6 865 Dipeptidyl aminopeptidase-like protein 6; Promotes cell surface expression of the potassium channel KCND2. Modulates the activity and gating characteristics of the potassium channel KCND2. Has no dipeptidyl aminopeptidase activity; DASH family 9606.ENSP00000367013 TNFRSF25 426 Tumor necrosis factor receptor superfamily member 25; Receptor for TNFSF12/APO3L/TWEAK. Interacts directly with the adapter TRADD. Mediates activation of NF-kappa-B and induces apoptosis. May play a role in regulating lymphocyte homeostasis; Tumor necrosis factor receptor superfamily 9606.ENSP00000367022 HIST1H2AC 130 Histone H2A type 1-C; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000367024 NAA40 237 N-alpha-acetyltransferase 40; N-alpha-acetyltransferase that specifically mediates the acetylation of the N-terminal residues of histones H4 and H2A. In contrast to other N-alpha- acetyltransferase, has a very specific selectivity for histones H4 and H2A N-terminus and specifically recognizes the 'Ser-Gly-Arg- Gly sequence'. Acts as a negative regulator of apoptosis. May play a role in hepatic lipid metabolism (By similarity); Belongs to the acetyltransferase family. NAA40 subfamily 9606.ENSP00000367028 TCOF1 1488 Treacle protein; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification 9606.ENSP00000367029 POLR1E 419 DNA-directed RNA polymerase I subunit RPA49; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (By similarity); Belongs to the eukaryotic RPA49/POLR1E RNA polymerase subunit family 9606.ENSP00000367030 TRDMT1 391 tRNA (cytosine(38)-C(5))-methyltransferase; Specifically methylates cytosine 38 in the anticodon loop of tRNA(Asp); Seven-beta-strand methyltransferase motif containing 9606.ENSP00000367032 PLCXD3 321 PI-PLC X domain-containing protein 3; Phosphatidylinositol specific phospholipase C X domain containing 3 9606.ENSP00000367034 HIST1H4C 103 Histone cluster 1 H4 family member c; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000367038 RRBP1 977 Ribosome-binding protein 1; Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane 9606.ENSP00000367049 MZT1 82 Mitotic-spindle organizing protein 1; Required for gamma-tubulin complex recruitment to the centrosome; Belongs to the MOZART1 family 9606.ENSP00000367050 RTN3 1032 Reticulon-3; May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasmic reticulum stress. In case of enteroviruses infection, RTN3 may be involved in the viral replication or pathogenesis. Induces the formation of endoplasmic reticulum tubules 9606.ENSP00000367059 ESPN 854 Espin; Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircas [...] 9606.ENSP00000367064 CUBN 3623 Cubilin; Cotransporter which plays a role in lipoprotein, vitamin and iron metabolism, by facilitating their uptake. Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1, APOA1, high density lipoprotein, and the GIF-cobalamin complex. The binding of all ligands requires calcium. Serves as important transporter in several absorptive epithelia, including intestine, renal proximal tubules and embryonic yolk sac. Interaction with LRP2 mediates its trafficking throughout vesicles and facilitates the uptake of specific ligands like GC, hemoglobin, ALB, TF and SCGB1A1. [...] 9606.ENSP00000367065 HES2 173 Transcription factor HES-2; Transcriptional repressor of genes that require a bHLH protein for their transcription; Basic helix-loop-helix proteins 9606.ENSP00000367069 ZFAT 1243 Zinc finger protein ZFAT; May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity); Zinc fingers C2H2-type 9606.ENSP00000367075 KLHL1 748 Kelch-like protein 1; May play a role in organizing the actin cytoskeleton of the brain cells; BTB domain containing 9606.ENSP00000367081 SLC17A2 478 Sodium-dependent phosphate transport protein 3; May be involved in actively transporting phosphate into cells via Na(+) cotransport; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family 9606.ENSP00000367086 ACOT7 380 Cytosolic acyl coenzyme A thioester hydrolase; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl- CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active toward [...] 9606.ENSP00000367096 PCDH9 1237 Protocadherin-9; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000367102 SLC22A6 563 Solute carrier family 22 member 6; Involved in the renal elimination of endogenous and exogenous organic anions. Functions as organic anion exchanger when the uptake of one molecule of organic anion is coupled with an efflux of one molecule of endogenous dicarboxylic acid (glutarate, ketoglutarate, etc). Mediates the sodium-independent uptake of 2,3-dimercapto-1-propanesulfonic acid (DMPS) (By similarity). Mediates the sodium-independent uptake of p- aminohippurate (PAH), ochratoxin (OTA), acyclovir (ACV), 3'-azido- 3-'deoxythymidine (AZT), cimetidine (CMD), 2,4-dichloro- phenoxyacetat [...] 9606.ENSP00000367104 BFSP1 665 Filensin; Beaded filament structural protein 1; Belongs to the intermediate filament family 9606.ENSP00000367123 SLC3A2 631 4F2 cell-surface antigen heavy chain; Required for the function of light chain amino-acid transporters. Involved in sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan. Involved in guiding and targeting of LAT1 and LAT2 to the plasma membrane. When associated with SLC7A6 or SLC7A7 acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbi [...] 9606.ENSP00000367125 GPR153 609 Probable G-protein coupled receptor 153; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000367130 HES3 186 Transcription factor HES-3; Transcriptional repressor of genes that require a bHLH protein for their transcription; Basic helix-loop-helix proteins 9606.ENSP00000367137 SLC17A4 497 Probable small intestine urate exporter; Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions. May be involved in urate extrusion from the intestinal duct. May recognize hydrophilic anionic drugs such as aspirin, salicylate, and ibuprofen as substrates. Able to actively transport inorganic phosphate into cells via Na(+) cotransport (in vitro); Belongs to the major facilitator superfamily. Sodium/anion cotransporter family 9606.ENSP00000367139 SPINK9 86 Serine protease inhibitor Kazal-type 9; Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the desquamation process in skin by inhibiting KLK5; Serine peptidase inhibitors, Kazal type 9606.ENSP00000367151 PCDH17 1159 Protocadherin-17; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000367154 RSU1 277 Ras suppressor protein 1; Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro 9606.ENSP00000367157 LRRC3C 275 Leucine-rich repeat-containing protein 3C; Leucine rich repeat containing 3C 9606.ENSP00000367163 PRR20B 221 Proline rich 20B 9606.ENSP00000367164 PRR20A 221 Proline rich 20A 9606.ENSP00000367172 GKN1 199 Gastrokine-1; Has mitogenic activity and may be involved in maintaining the integrity of the gastric mucosal epithelium; BRICHOS domain containing 9606.ENSP00000367173 RNF207 634 RING finger protein 207; Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner; Ring finger proteins 9606.ENSP00000367177 PCDH8 1070 Protocadherin-8; Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity); Non-clustered protocadherins 9606.ENSP00000367185 LYPD5 251 LY6/PLAUR domain containing 5 9606.ENSP00000367193 FBXO48 155 F-box protein 48; F-boxes other 9606.ENSP00000367196 GLIPR2 154 Golgi-associated plant pathogenesis-related protein 1; GLI pathogenesis related 2; CAP superfamily 9606.ENSP00000367197 SCGN 276 Secretagogin, EF-hand calcium binding protein; EF-hand domain containing 9606.ENSP00000367198 LECT1 334 Leukocyte cell-derived chemotaxin 1; Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization 9606.ENSP00000367202 RECK 971 Reversion-inducing cysteine-rich protein with Kazal motifs; Negatively regulates matrix metalloproteinase-9 (MMP-9) by suppressing MMP-9 secretion and by direct inhibition of its enzymatic activity. RECK down-regulation by oncogenic signals may facilitate tumor invasion and metastasis. Appears to also regulate MMP-2 and MT1-MMP, which are involved in cancer progression 9606.ENSP00000367203 KDM6A 1401 Lysine-specific demethylase 6A; Histone demethylase that specifically demethylates 'Lys- 27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A. Plays a demethylase-independent role in chromatin remodeling to regulate [...] 9606.ENSP00000367208 SUGT1 365 Protein SGT1 homolog; May play a role in ubiquitination and subsequent proteasomal degradation of target proteins 9606.ENSP00000367214 GRXCR2 248 Glutaredoxin domain-containing cysteine-rich protein 2; Could play a role in maintaining cochlear stereocilia bundles that are involved in sound detection; Deafness associated genes 9606.ENSP00000367219 OR13J1 312 Olfactory receptor 13J1; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000367220 ACTR2 399 Actin-related protein 2; Functions as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Seems to contact the pointed end of the daughter actin filament 9606.ENSP00000367227 TMEM8B 472 Transmembrane protein 8B; May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion; Belongs to the TMEM8 family 9606.ENSP00000367229 CEP68 757 Centrosomal protein of 68 kDa; Involved in maintenance of centrosome cohesion, probably as part of a linker structure which prevents centrosome splitting. Required for localization of CDK5RAP2 to the centrosome during interphase 9606.ENSP00000367239 PTER 349 Phosphotriesterase-related protein; Phosphotriesterase related; Belongs to the metallo-dependent hydrolases superfamily. Phosphotriesterase family 9606.ENSP00000367263 AHNAK 5890 Neuroblast differentiation-associated protein AHNAK; May be required for neuronal cell differentiation; PDZ domain containing 9606.ENSP00000367265 CKAP4 602 Cytoskeleton-associated protein 4; High-affinity epithelial cell surface receptor for APF 9606.ENSP00000367276 CKAP2 683 Cytoskeleton-associated protein 2; Possesses microtubule stabilizing properties. Involved in regulating aneuploidy, cell cycling, and cell death in a p53/TP53-dependent manner (By similarity) 9606.ENSP00000367284 FUNDC1 155 FUN14 domain-containing protein 1; Acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality control 9606.ENSP00000367292 FLRT3 649 Leucine-rich repeat transmembrane protein FLRT3; Functions in cell-cell adhesion, cell migration and axon guidance, exerting an attractive or repulsive role depending on its interaction partners. Plays a role in the spatial organization of brain neurons. Plays a role in vascular development in the retina (By similarity). Plays a role in cell-cell adhesion via its interaction with ADGRL3 and probably also other latrophilins that are expressed at the surface of adjacent cells. Interaction with the intracellular domain of ROBO1 mediates axon attraction towards cells expressing NTN1. Media [...] 9606.ENSP00000367299 VPS36 386 Vacuolar protein-sorting-associated protein 36; Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may a [...] 9606.ENSP00000367300 ZNF425 752 Zinc finger protein 425; Acts as a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000367301 NDP 133 Norrin; Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible r [...] 9606.ENSP00000367309 MAOB 520 Amine oxidase [flavin-containing] B; Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOB preferentially degrades benzylamine and phenylethylamine 9606.ENSP00000367312 SEL1L2 575 Protein sel-1 homolog 2; SEL1L2 ERAD E3 ligase adaptor subunit; Belongs to the sel-1 family 9606.ENSP00000367315 LRRC10B 292 Leucine-rich repeat-containing protein 10B; Leucine rich repeat containing 10B 9606.ENSP00000367316 ITGA8 1063 Integrin alpha-8; Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons 9606.ENSP00000367318 RGP1 391 RAB6A-GEF complex partner protein 2; The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1- RGP1 complex participates in the recycling of mannose-6-phosphate receptors 9606.ENSP00000367319 FBXO47 452 F-box only protein 47; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation; F-boxes other 9606.ENSP00000367323 KCNAB2 415 Voltage-gated potassium channel subunit beta-2; Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits. Contributes to the regulation of nerve signaling, and prevents neuronal hyperexcitability (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Promotes potassium channel closure via a mechanism that does not involve physical obstruction of the channel pore. Promotes KCNA4 channel closure. Modulates the functional properties of KCNA5 [...] 9606.ENSP00000367330 C12orf73 71 Uncharacterized protein C12orf73; Chromosome 12 open reading frame 73 9606.ENSP00000367343 GBA2 927 Non-lysosomal glucosylceramidase; Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons 9606.ENSP00000367346 NDUFAF5 345 Arginine-hydroxylase NDUFAF5, mitochondrial; Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. Acts by mediating hydroxylation of 'Arg-111' of NDUFS7. May also have methyltransferase activity (Probable) 9606.ENSP00000367353 C12orf42 360 Uncharacterized protein C12orf42; Chromosome 12 open reading frame 42 9606.ENSP00000367355 ARHGEF35 484 Rho guanine nucleotide exchange factor 35 9606.ENSP00000367356 FAM171A1 890 Protein FAM171A1; Family with sequence similarity 171 member A1 9606.ENSP00000367359 C6orf62 229 Uncharacterized protein C6orf62; Chromosome 6 open reading frame 62 9606.ENSP00000367360 BLACE 179 B-cell acute lymphoblastic leukemia-expressed protein; B cell acute lymphoblastic leukemia expressed 9606.ENSP00000367384 GPR34 381 Probable G-protein coupled receptor 34; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000367391 PGA4 388 Pepsin A-4; Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent; Belongs to the peptidase A1 family 9606.ENSP00000367398 NPHP4 1426 Nephrocystin-4; Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subce [...] 9606.ENSP00000367406 TAF2 1199 Transcription initiation factor TFIID subunit 2; Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. It requires core promoter-specific cofactors for productive transcription stimulation. TAF2 stabilizes TFIID binding to core promoter 9606.ENSP00000367407 NMT2 498 Glycylpeptide N-tetradecanoyltransferase 2; Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins 9606.ENSP00000367408 CASK 921 Peripheral plasma membrane protein CASK; Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1; In the N-terminal section; belongs to the protein kinase s [...] 9606.ENSP00000367422 DLEU1 78 Leukemia-associated protein 1; May act as a tumor suppressor; Long non-coding RNAs 9606.ENSP00000367428 MS4A13 152 Membrane-spanning 4-domains subfamily A member 13; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000367429 ERICH4 130 Glutamate-rich protein 4; Glutamate rich 4 9606.ENSP00000367433 AJAP1 411 Adherens junction-associated protein 1; Plays a role in cell adhesion and cell migration 9606.ENSP00000367440 TDP2 362 Tyrosyl-DNA phosphodiesterase 2; DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. The 5'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DNA double-strand breaks/DSBs without the need for nuclease activity, creating a 'clean' DSB with 5'-phosphate termini that are ready for ligation. Thereby, protects the transcription of ma [...] 9606.ENSP00000367446 EXT1 746 Exostosin-1; Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan; Exostosin glycosyltransferase family 9606.ENSP00000367449 C10orf111 155 Uncharacterized protein C10orf111; Chromosome 10 open reading frame 111 9606.ENSP00000367453 ACBD7 88 Acyl-CoA-binding domain-containing protein 7; Binds medium- and long-chain acyl-CoA esters 9606.ENSP00000367459 KIAA0319 1072 Dyslexia-associated protein KIAA0319; Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non- cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites 9606.ENSP00000367462 OLAH 318 S-acyl fatty acid synthase thioesterase, medium chain; oleoyl-ACP hydrolase 9606.ENSP00000367476 CEP104 925 Centrosomal protein of 104 kDa; Required for ciliogenesis and for structural integrity at the ciliary tip 9606.ENSP00000367494 SPIRE2 714 Protein spire homolog 2; Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning and asymmetric cell division during meiosis. Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis 9606.ENSP00000367498 LRRC47 583 Leucine-rich repeat-containing protein 47; Leucine rich repeat containing 47 9606.ENSP00000367527 DCLRE1C 692 Protein artemis; Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and [...] 9606.ENSP00000367528 AARD 155 Alanine and arginine rich domain containing protein 9606.ENSP00000367542 TPM2 284 Tropomyosin beta chain; Tropomyosin 2; Belongs to the tropomyosin family 9606.ENSP00000367545 TP73 636 Tumor protein p73; Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein 9606.ENSP00000367552 RCBTB1 531 RCC1 and BTB domain-containing protein 1; May be involved in cell cycle regulation by chromatin remodeling; BTB domain containing 9606.ENSP00000367564 C19orf54 351 UPF0692 protein C19orf54; Chromosome 19 open reading frame 54; Belongs to the UPF0692 family 9606.ENSP00000367570 PHF11 331 PHD finger protein 11; Positive regulator of Th1-type cytokine gene expression; PHD finger proteins 9606.ENSP00000367590 REEP2 254 Receptor expression-enhancing protein 2; Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity); Belongs to the DP1 family 9606.ENSP00000367595 TPRG1L 272 Tumor protein p63 regulated 1 like; Belongs to the TPRG1 family 9606.ENSP00000367608 CA9 459 Carbonic anhydrase 9; Reversible hydration of carbon dioxide. Participates in pH regulation. May be involved in the control of cell proliferation and transformation. Appears to be a novel specific biomarker for a cervical neoplasia; Belongs to the alpha-carbonic anhydrase family 9606.ENSP00000367615 APRT 180 Adenine phosphoribosyltransferase; Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis 9606.ENSP00000367623 HSPA14 509 Heat shock 70 kDa protein 14; Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity; Belongs to the heat shock protein 70 family 9606.ENSP00000367629 ARHGEF16 709 Rho guanine nucleotide exchange factor 16; Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP. May play a role in chemotactic cell migration by mediating the activation of RAC1 by EPHA2. May also activate CDC42 and mediate activation of CDC42 by the viral protein HPV16 E6; Pleckstrin homology domain containing 9606.ENSP00000367631 ANKEF1 776 Ankyrin repeat and EF-hand domain containing 1 9606.ENSP00000367638 ARHGEF39 335 Rho guanine nucleotide exchange factor 39; Promotes cell proliferation 9606.ENSP00000367649 OR5D16 328 Olfactory receptor 5D16; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000367650 OR5L2 311 Olfactory receptor 5L2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000367655 PKHD1L1 4243 Fibrocystin-L; PKHD1 like 1 9606.ENSP00000367658 ACTRT2 377 Actin related protein T2 9606.ENSP00000367664 OR4A5 315 Olfactory receptor 4A5; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000367668 MMEL1 779 Membrane metallo-endopeptidase-like 1; Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity); Belongs to the peptidase M13 family 9606.ENSP00000367686 PAK7 719 Serine/threonine-protein kinase PAK 5; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates the proto-oncogene RAF1 and stimulates its kinase activity. Promotes cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Phosphoryla [...] 9606.ENSP00000367691 LPAR6 344 Lysophosphatidic acid receptor 6; Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture 9606.ENSP00000367697 ATP6AP2 350 Renin receptor; Functions as a renin and prorenin cellular receptor. May mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS) 9606.ENSP00000367705 BCOR 1755 BCL-6 corepressor; Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence- specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' ( [...] 9606.ENSP00000367714 HES5 166 Transcription factor HES-5; Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000367715 DCDC2 476 Doublecortin domain-containing protein 2; Protein that plays a role in the inhibition of canonical Wnt signaling pathway. May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length; Deafness associated genes 9606.ENSP00000367721 NUP160 1436 Nuclear pore complex protein Nup160; Involved in poly(A)+ RNA transport; Nucleoporins 9606.ENSP00000367727 PANK4 773 Pantothenate kinase 4; Plays a role in the physiological regulation of the intracellular CoA concentration 9606.ENSP00000367739 NRSN1 195 Neurensin-1; May play an important role in neural organelle transport, and in transduction of nerve signals or in nerve growth. May play a role in neurite extension. May play a role in memory consolidation (By similarity); Belongs to the VMP family 9606.ENSP00000367743 TSPAN7 249 Tetraspanin-7; May be involved in cell proliferation and cell motility; CD molecules 9606.ENSP00000367746 CLLU1 121 Chronic lymphocytic leukemia up-regulated 1 9606.ENSP00000367747 PLCH2 1416 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity); EF-hand domain containing 9606.ENSP00000367748 CLLU1OS 101 Chronic lymphocytic leukemia up-regulated 1 opposite strand 9606.ENSP00000367755 CAMKMT 323 Calmodulin-lysine N-methyltransferase; Catalyzes the trimethylation of 'Lys-116' in calmodulin; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000367756 UNC13B 1591 Protein unc-13 homolog B; Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity- depending refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in a subset of excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity); Belongs to the unc-13 family 9606.ENSP00000367762 PLCB4 1194 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction; C2 domain containing phospholipases 9606.ENSP00000367766 RPGR 1152 X-linked retinitis pigmentosa GTPase regulator; Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia 9606.ENSP00000367770 SLC35B4 331 UDP-xylose and UDP-N-acetylglucosamine transporter; Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi; Belongs to the nucleotide-sugar transporter family. SLC35B subfamily 9606.ENSP00000367787 LIG3 1009 DNA ligase 3; Isoform 3 functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand- break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair 9606.ENSP00000367792 MORN1 497 MORN repeat containing 1 9606.ENSP00000367794 SRPX 464 Sushi repeat-containing protein SRPX; May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction; Sushi domain containing 9606.ENSP00000367797 SKI 728 Ski oncogene; May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling; Belongs to the SKI family 9606.ENSP00000367815 DNAAF1 725 Dynein assembly factor 1, axonemal; Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli 9606.ENSP00000367817 PODXL 558 Podocalyxin; Involved in the regulation of both adhesion and cell morphology and cancer progression. Function as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Acts as a pro-adhesive molecule, enhancing the adherence of cells to immobilized ligands, increasing the rate of migration and cell- cell contacts in an integrin-dependent manner. Induces the formation of apical actin-dependent microvilli. Involved in the formation of a preapical plasma membrane subdomain to set up inital epithelial pola [...] 9606.ENSP00000367823 FAM214B 538 Protein FAM214B; Family with sequence similarity 214 member B; Belongs to the FAM214 family 9606.ENSP00000367828 ITM2B 266 Integral membrane protein 2B; Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites; Belongs to the ITM2 family 9606.ENSP00000367830 PRKCZ 592 Protein kinase C zeta type; Calcium- and diacylglycerol-independent serine/threonine-protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signaling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascade independently of RAF1 activation. Requ [...] 9606.ENSP00000367832 CCL7 99 C-C motif chemokine 7; Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3; Chemokine ligands 9606.ENSP00000367835 PRPF18 342 Pre-mRNA-splicing factor 18; Participates in the second step of pre-mRNA splicing; Spliceosomal C complex 9606.ENSP00000367841 DYNLT3 116 Dynein light chain Tctex-type 3; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Probably binds BUB3 as part of transport cargo. Required for the efficient progression through mitosis (By similarity); Belongs to the dynein light chain Tctex-type family 9606.ENSP00000367848 GABRD 452 Gamma-aminobutyric acid receptor subunit delta; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000367851 CYBB 570 Cytochrome b-245 heavy chain; Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc 9606.ENSP00000367878 C11orf49 337 UPF0705 protein C11orf49; Chromosome 11 open reading frame 49; Belongs to the UPF0705 family 9606.ENSP00000367879 XK 444 Membrane transport protein XK; May be involved in sodium-dependent transport of neutral amino acids or oligopeptides; Blood group antigens 9606.ENSP00000367880 PIGO 1089 GPI ethanolamine phosphate transferase 3; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond; Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily 9606.ENSP00000367882 LANCL3 420 LanC-like protein 3; LanC like 3 9606.ENSP00000367888 LRP4 1905 Low-density lipoprotein receptor-related protein 4; Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN- induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the [...] 9606.ENSP00000367890 NADK 591 NAD kinase; Belongs to the NAD kinase family 9606.ENSP00000367891 LGALS7 136 Galectin-7; Could be involved in cell-cell and/or cell-matrix interactions necessary for normal growth control. Pro-apoptotic protein that functions intracellularly upstream of JNK activation and cytochrome c release; Galectins 9606.ENSP00000367893 SEPHS1 392 Selenide, water dikinase 1; Synthesizes selenophosphate from selenide and ATP 9606.ENSP00000367910 FANCG 622 Fanconi anemia group G protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene; Fanconi anemia complementation groups 9606.ENSP00000367911 SYCE1L 242 Synaptonemal complex central element protein 1-like; May be involved in meiosis 9606.ENSP00000367913 FAM47C 1035 Putative protein FAM47C; Family with sequence similarity 47 member C; Belongs to the FAM47 family 9606.ENSP00000367923 SUCLA2 463 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity) 9606.ENSP00000367926 CXorf30 633 Cilia- and flagella-associated protein 47; Chromosome X open reading frame 30 9606.ENSP00000367929 CHDC2 502 Cilia- and flagella-associated protein 47; Calponin homology domain containing 2 9606.ENSP00000367930 OXER1 423 Oxoeicosanoid receptor 1; Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)-hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins 9606.ENSP00000367938 COX7A2L 114 Cytochrome c oxidase subunit 7A-related protein, mitochondrial; Involved in the regulation of oxidative phosphorylation and energy metabolism (By similarity). Necessary for the assembly of mitochondrial respiratory supercomplex (By similarity); Belongs to the cytochrome c oxidase VIIa family 9606.ENSP00000367939 UQCRQ 82 Cytochrome b-c1 complex subunit 8; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds to ubiquinone; Belongs to the UQCRQ/QCR8 family 9606.ENSP00000367942 GDF9 454 Growth/differentiation factor 9; Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells; [...] 9606.ENSP00000367950 SHROOM1 852 Protein Shroom1; May be involved in the assembly of microtubule arrays during cell elongation 9606.ENSP00000367952 UCMA 138 Unique cartilage matrix-associated protein; May be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells in peripheral zones of fetal cartilage and at the cartilage-bone interface 9606.ENSP00000367965 SOWAHA 549 Ankyrin repeat domain-containing protein SOWAHA; Sosondowah ankyrin repeat domain family member A; Belongs to the SOWAH family 9606.ENSP00000367972 ID4 161 DNA-binding protein inhibitor ID-4; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation (By similarity) 9606.ENSP00000367983 C2orf91 131 Uncharacterized protein C2orf91; Chromosome 2 open reading frame 91 9606.ENSP00000367991 SEPT8 483 Septin-8; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion; Septins 9606.ENSP00000367992 ESD 282 S-formylglutathione hydrolase; Serine hydrolase involved in the detoxification of formaldehyde 9606.ENSP00000368007 TMEM240 173 Transmembrane protein 240; Belongs to the TMEM240 family 9606.ENSP00000368017 ZFC3H1 1989 Zinc finger C3H1 domain-containing protein; Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor SKIV2L2/MTR4, which links to RNA-binding protein adapters; Zinc fingers 9606.ENSP00000368022 OPTN 577 Optineurin; Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation. In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and [...] 9606.ENSP00000368030 ATAD3A 634 ATPase family AAA domain-containing protein 3A; Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis; Belongs to the AAA ATPase family 9606.ENSP00000368055 ENSG00000205106 120 Uncharacterized protein 9606.ENSP00000368062 ATAD3C 411 ATPase family, AAA domain containing 3C; Belongs to the AAA ATPase family 9606.ENSP00000368066 HAO1 370 Hydroxyacid oxidase 1; Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2- hydroxy octanoate 9606.ENSP00000368079 CYP4V2 525 Cytochrome P450 4V2; Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye. Catalyzes the omega- hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate. Also produces some 21 [...] 9606.ENSP00000368080 CDKL4 315 Cyclin-dependent kinase-like 4; Cyclin dependent kinase like 4 9606.ENSP00000368100 RAD50 1312 DNA repair protein RAD50; Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nucleas [...] 9606.ENSP00000368102 CCDC3 270 Coiled-coil domain-containing protein 3; Negatively regulates TNF-alpha-induced pro-inflammatory response in endothelial cells (ECs) via inhibition of TNF-alpha- induced NF-kappaB activation in ECs. Positively regulates lipid accumulation in adipose cells (By similarity) 9606.ENSP00000368104 BMP2 396 Bone morphogenetic protein 2; Induces cartilage and bone formation. Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4; Belongs to the TGF-beta family 9606.ENSP00000368109 ACCSL 568 Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2; 1-aminocyclopropane-1-carboxylate synthase homolog like; Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000368119 GALT 379 Galactose-1-phosphate uridylyltransferase; Plays an important role in galactose metabolism 9606.ENSP00000368127 C4orf47 309 UPF0602 protein C4orf47; Chromosome 4 open reading frame 47; Belongs to the UPF0602 family 9606.ENSP00000368135 LRRN4 740 Leucine-rich repeat neuronal protein 4; May play an important role in hippocampus-dependent long-lasting memory; Fibronectin type III domain containing 9606.ENSP00000368140 CRLS1 301 Cardiolipin synthase (CMP-forming); Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions 9606.ENSP00000368144 PRR5L 368 Proline-rich protein 5-like; Associates with the mTORC2 complex that regulates cellular processes including survival and organization of the cytoskeleton. Regulates the activity of the mTORC2 complex in a substrate-specific manner preventing for instance the specific phosphorylation of PKCs and thereby controlling cell migration. Plays a role in the stimulation of ZFP36-mediated mRNA decay of several ZFP36- associated mRNAs, such as TNF-alpha and GM-CSF, in response to stress. Required for ZFP36 localization to cytoplasmic stress granule (SG) and P-body (PB) in response to stress; Belo [...] 9606.ENSP00000368152 ALKBH6 266 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6; Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron; Belongs to the alkB family 9606.ENSP00000368164 MCM8 880 DNA helicase MCM8; Component of the MCM8-MCM9 complex, a complex involved in homologous recombination repair following DNA interstrand cross-links and plays a key role during gametogenesis. The MCM8- MCM9 complex probably acts as a hexameric helicase downstream of the Fanconi anemia proteins BRCA2 and RAD51 and is required to process aberrant forks into homologous recombination substrates and to orchestrate homologous recombination with resection, fork stabilization and fork restart. May also play a non-essential for DNA replication: may be involved in the activation of the prereplicat [...] 9606.ENSP00000368165 SDHAF1 115 Succinate dehydrogenase assembly factor 1, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDH [...] 9606.ENSP00000368169 DVL1 670 Segment polarity protein dishevelled homolog DVL-1; Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ); Disheve [...] 9606.ENSP00000368173 DHRS13 377 Dehydrogenase/reductase SDR family member 13; Putative oxidoreductase; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000368189 ARID3C 412 AT-rich interactive domain-containing protein 3C; AT-rich interaction domain containing 9606.ENSP00000368190 NPHS1 1241 Nephrin; Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity); C2-set domain containing 9606.ENSP00000368199 PGPEP1L 196 Pyroglutamyl-peptidase 1-like protein; Pyroglutamyl-peptidase I like 9606.ENSP00000368207 FTHL17 183 Ferritin heavy chain like 17 9606.ENSP00000368215 TAB3 712 TGF-beta-activated kinase 1 and MAP3K7-binding protein 3; Adapter linking MAP3K7/TAK1 and TRAF6 or TRAF2. Mediator of MAP3K7 activation, respectively in the IL1 and TNF signaling pathways. Plays a role in activation of NF-kappa-B and AP1 transcription factor. Isoform 2 may be an oncogenic factor; Zinc fingers RANBP2-type 9606.ENSP00000368237 ATL2 583 Atlastin-2; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis; Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily 9606.ENSP00000368244 CHGB 677 Secretogranin-1; Secretogranin-1 is a neuroendocrine secretory granule protein, which may be the precursor for other biologically active peptides 9606.ENSP00000368245 CXorf21 301 Uncharacterized protein CXorf21; Chromosome X open reading frame 21 9606.ENSP00000368253 NR0B1 470 Nuclear receptor subfamily 0 group B member 1; Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity); Belongs to the nuclear hormone receptor family. NR0 subfamily 9606.ENSP00000368264 MAGEB1 347 Melanoma-associated antigen B1; MAGE family member B1 9606.ENSP00000368265 CNTFR 372 Ciliary neurotrophic factor receptor subunit alpha; Binds to CNTF. The alpha subunit provides the receptor specificity; Belongs to the type I cytokine receptor family. Type 3 subfamily 9606.ENSP00000368266 MAGEB4 346 Melanoma-associated antigen B4; MAGE family member B4 9606.ENSP00000368273 MAGEB2 319 Melanoma-associated antigen B2; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex; MAGE family 9606.ENSP00000368278 IL1RAPL1 696 Interleukin-1 receptor accessory protein-like 1; May regulate secretion and presynaptic differentiation through inhibition of the activity of N-type voltage-gated calcium channel. May activate the MAP kinase JNK. Plays a role in neurite outgrowth (By similarity). During dendritic spine formation can bidirectionally induce pre- and post-synaptic differentiation of neurons by trans- synaptically binding to PTPRD (By similarity); Belongs to the interleukin-1 receptor family 9606.ENSP00000368292 C7orf66 115 Uncharacterized protein C7orf66; Chromosome 7 open reading frame 66 9606.ENSP00000368296 C11orf91 193 Uncharacterized protein C11orf91; Chromosome 11 open reading frame 91 9606.ENSP00000368304 MAGEB10 347 Melanoma-associated antigen B10; MAGE family member B10 9606.ENSP00000368305 GPCPD1 672 Glycerophosphocholine phosphodiesterase GPCPD1; May be involved in the negative regulation of skeletal muscle differentiation, independently of its glycerophosphocholine phosphodiesterase activity; Belongs to the glycerophosphoryl diester phosphodiesterase family 9606.ENSP00000368314 NRCAM 1304 Neuronal cell adhesion molecule; Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by [...] 9606.ENSP00000368318 PUSL1 303 Pseudouridylate synthase-like 1; Belongs to the tRNA pseudouridine synthase TruA family 9606.ENSP00000368320 MAGEB6 407 Melanoma-associated antigen B6; MAGE family member B6 9606.ENSP00000368332 ARX 562 Homeobox protein ARX; Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate; Belongs to the paired homeobox family. Bicoid subfamily 9606.ENSP00000368341 RBM24 236 RNA-binding protein 24; Plays a role in myogenic differentiation by regulating MYOG levels. Binds to the 3'-UTR of MYOG mRNA and regulates its stability; RNA binding motif containing 9606.ENSP00000368349 POLA1 1462 DNA polymerase alpha catalytic subunit; Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase [...] 9606.ENSP00000368356 PRKD3 890 Serine/threonine-protein kinase D3; Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily 9606.ENSP00000368362 FABP9 132 Fatty acid binding protein family 9606.ENSP00000368389 NGRN 291 Neugrin; May be involved in neuronal differentiation 9606.ENSP00000368397 LYRM9 78 LYR motif containing 9; Belongs to the complex I LYR family. LYRM9 subfamily 9606.ENSP00000368402 KCTD4 259 BTB/POZ domain-containing protein KCTD4; Potassium channel tetramerization domain containing 4 9606.ENSP00000368411 SCNN1D 802 Amiloride-sensitive sodium channel subunit delta; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception 9606.ENSP00000368414 BCAP29 348 B-cell receptor-associated protein 29; May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis (By similarity); Belongs to the BCAP29/BCAP31 family 9606.ENSP00000368439 PCYT1B 369 Choline-phosphate cytidylyltransferase B; Controls phosphatidylcholine synthesis 9606.ENSP00000368447 GPALPP1 340 GPALPP motifs containing 1 9606.ENSP00000368450 CD83 205 CD83 antigen; May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation; CD molecules 9606.ENSP00000368455 NUDT2 147 Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]; Asymmetrically hydrolyzes Ap4A to yield AMP and ATP. Plays a major role in maintaining homeostasis; Belongs to the Nudix hydrolase family 9606.ENSP00000368458 PCNA 261 Proliferating cell nuclear antigen; Auxiliary protein of DNA polymerase delta and is involved in the control of eukaryotic DNA replication by increasing the polymerase's processibility during elongation of the leading strand. Induces a robust stimulatory effect on the 3'- 5' exonuclease and 3'-phosphodiesterase, but not apurinic- apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA re [...] 9606.ENSP00000368459 NUFIP1 495 Nuclear fragile X mental retardation-interacting protein 1; Binds RNA 9606.ENSP00000368464 KIF24 1368 Kinesin-like protein KIF24; Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles. Mediates depolymerization of microtubules of centriolar origin, possibly to suppress aberrant cilia formation. Following activation by NEK2 involved in disassembly of primary cilium during G2/M phase but does not disassemble fully formed ciliary axonemes. As cilium assembly and disassembly is proposed to coexist in a dynamic equilibrium may suppres [...] 9606.ENSP00000368468 MCUR1 359 Mitochondrial calcium uniporter regulator 1; Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion. Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU. Probably involved in the assembly of the membrane components of the uniporter complex (uniplex); Belongs to the CCDC90 family 9606.ENSP00000368475 ZFX 805 Zinc finger X-chromosomal protein; Probable transcriptional activator; Zinc fingers C2H2-type 9606.ENSP00000368477 SERP2 65 Stress-associated endoplasmic reticulum protein 2; May interact with target proteins during translocation into the lumen of the endoplasmic reticulum. May protect unfolded target proteins against degradation and facilitate correct glycosylation (Potential) 9606.ENSP00000368496 B3GALT6 329 Beta-1,3-galactosyltransferase 6; Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues 9606.ENSP00000368503 C4orf46 113 Renal cancer differentiation gene 1 protein; Chromosome 4 open reading frame 46 9606.ENSP00000368511 CXorf58 332 Putative uncharacterized protein CXorf58; Chromosome X open reading frame 58 9606.ENSP00000368516 LGR4 951 Leucine-rich repeat-containing G-protein coupled receptor 4; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and is involved in the formation of various organs. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Its function as activat [...] 9606.ENSP00000368517 ECHDC3 303 Enoyl-CoA hydratase domain-containing protein 3, mitochondrial; enoyl-CoA hydratase domain containing 3; Belongs to the enoyl-CoA hydratase/isomerase family 9606.ENSP00000368523 DNAJC15 150 DnaJ homolog subfamily C member 15; Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP (By similarity). Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9; DNAJ heat shock proteins 9606.ENSP00000368528 APOO 198 MICOS complex subunit MIC26; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function. Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts. Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride trans [...] 9606.ENSP00000368538 TNFRSF4 277 Tumor necrosis factor receptor superfamily member 4; Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity; CD molecules 9606.ENSP00000368540 UBAP2 1119 Ubiquitin associated protein 2 9606.ENSP00000368544 VIT 693 Vitrin; Promotes matrix assembly and cell adhesiveness 9606.ENSP00000368547 FEZ2 380 Fasciculation and elongation protein zeta-2; Involved in axonal outgrowth and fasciculation 9606.ENSP00000368565 DNAJC2 621 DnaJ homolog subfamily C member 2; Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb- repressed genes to an active state: specifically recruited at hist [...] 9606.ENSP00000368566 ACSL6 722 Long-chain-fatty-acid--CoA ligase 6; Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid; Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000368572 SAT1 171 Diamine acetyltransferase 1; Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine; Belongs to the acetyltransferase family 9606.ENSP00000368589 GFOD1 390 Glucose-fructose oxidoreductase domain containing 1 9606.ENSP00000368592 TTLL10 673 Inactive polyglycylase TTLL10; Inactive polyglycylase; Tubulin tyrosine ligase family 9606.ENSP00000368605 ACOT9 448 Acyl-coenzyme A thioesterase 9, mitochondrial; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Active on long chain acyl-CoAs 9606.ENSP00000368612 VWA8 1905 Von Willebrand factor A domain-containing protein 8; Exhibits ATPase activity in vitro 9606.ENSP00000368632 GATA3 444 Trans-acting T-cell-specific transcription factor GATA-3; Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses; GATA zinc finger domain containing 9606.ENSP00000368637 SLC23A2 650 Solute carrier family 23 member 2; Sodium/ascorbate cotransporter. Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate; Solute carriers 9606.ENSP00000368646 PRDX4 271 Peroxiredoxin-4; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Regulates the activation of NF-kappa-B in the cytosol by a modulation of I- kappa-B-alpha phosphorylation; Peroxiredoxins 9606.ENSP00000368648 SLC30A6 501 Zinc transporter 6; Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment; Solute carriers 9606.ENSP00000368664 RGCC 137 Regulator of cell cycle RGCC; Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation 9606.ENSP00000368666 PTCHD1 888 Patched domain-containing protein 1; Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention 9606.ENSP00000368667 DDX53 631 Probable ATP-dependent RNA helicase DDX53; DEAD-box helicase 53 9606.ENSP00000368678 AGRN 2045 Agrin; Agrin N-terminal 110 kDa subunit: is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity); Proteoglycans 9606.ENSP00000368682 PHEX 749 Phosphate-regulating neutral endopeptidase; Probably involved in bone and dentin mineralization and renal phosphate reabsorption; M13 metallopeptidases 9606.ENSP00000368683 EDN1 212 Endothelin-1; Endothelins are endothelium-derived vasoconstrictor peptides; Belongs to the endothelin/sarafotoxin family 9606.ENSP00000368686 E2F4 413 Transcription factor E2F4; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC- 3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F4 binds with high affinity to RBL1 and RBL2. In some instances can also bind RB1. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole [...] 9606.ENSP00000368688 LYRM7 104 Complex III assembly factor LYRM7; Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane; LYR motif containing 9606.ENSP00000368698 HIVEP1 2718 Zinc finger protein 40; This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interfero [...] 9606.ENSP00000368699 ISG15 165 Ubiquitin-like protein ISG15; Ubiquitin-like protein which plays a key role in the innate immune response to viral infection either via its conjugation to a target protein (ISGylation) or via its action as a free or unconjugated protein. ISGylation involves a cascade of enzymatic reactions involving E1, E2, and E3 enzymes which catalyze the conjugation of ISG15 to a lysine residue in the target protein. Its target proteins include IFIT1, MX1/MxA, PPM1B, UBE2L6, UBA7, CHMP5, CHMP2A, CHMP4B and CHMP6. Can also isgylate: EIF2AK2/PKR which results in its activation, DDX58/RIG-I which inhib [...] 9606.ENSP00000368710 RASSF2 326 Ras association domain-containing protein 2; Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest. Stabilizes STK3/MST2 by protecting it from proteasomal degradation; Ras association domain family 9606.ENSP00000368716 NAA16 864 N-alpha-acetyltransferase 16, NatA auxiliary subunit; Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity; Armadillo-like helical domain containing 9606.ENSP00000368720 PLEKHN1 611 Pleckstrin homology domain containing N1 9606.ENSP00000368727 XDH 1333 Xanthine dehydrogenase/oxidase; Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro) 9606.ENSP00000368737 TMEM170B 132 Transmembrane protein 170B 9606.ENSP00000368752 PRNP 253 Major prion protein; Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as a agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degr [...] 9606.ENSP00000368758 CTXN3 81 Cortexin-3; Cortexin 3; Belongs to the cortexin family 9606.ENSP00000368759 NEDD9 834 Enhancer of filamentation 1; Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phosphoryla [...] 9606.ENSP00000368761 ZNF827 1077 Zinc finger protein 827; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000368766 ADRA1D 572 Alpha-1D adrenergic receptor; This alpha-adrenergic receptor mediates its effect through the influx of extracellular calcium; Adrenoceptors 9606.ENSP00000368767 ASPH 758 Aspartyl/asparaginyl beta-hydroxylase; Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins; Belongs to the aspartyl/asparaginyl beta-hydroxylase family 9606.ENSP00000368771 MUC3A 3323 Mucin-3A; Major glycoprotein component of a variety of mucus gels. Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces. May be involved in ligand binding and intracellular signaling; Mucins 9606.ENSP00000368793 MTRF1 445 Peptide chain release factor 1, mitochondrial; Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-cognate termination stop codons AGG and AGA 9606.ENSP00000368797 KBTBD7 684 Kelch repeat and BTB domain containing 7 9606.ENSP00000368798 MBTPS2 519 Membrane-bound transcription factor site-2 protease; Intramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop; Belongs to the peptidase M50A family 9606.ENSP00000368799 KBTBD6 674 Kelch repeat and BTB domain containing 6 9606.ENSP00000368801 WBP4 376 WW domain-binding protein 4; Promotes pre-mRNA splicing. A spliceosome-associated protein; may play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex 9606.ENSP00000368805 GCM2 506 Chorion-specific transcription factor GCMb; Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development 9606.ENSP00000368808 SMPX 88 Small muscular protein; Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair; Deafness associated genes 9606.ENSP00000368813 KLHL34 644 Kelch-like protein 34; Kelch like family member 34; BTB domain containing 9606.ENSP00000368814 CMTM1 286 CKLF like MARVEL transmembrane domain containing 1 9606.ENSP00000368818 TOM1L2 507 TOM1-like protein 2; Probable role in protein transport. May regulate growth factor-induced mitogenic signaling 9606.ENSP00000368824 CNKSR2 1034 Connector enhancer of kinase suppressor of ras 2; May function as an adapter protein or regulator of Ras signaling pathways; Belongs to the CNKSR family 9606.ENSP00000368831 SNX2 519 Sorting nexin-2; Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3- phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called e [...] 9606.ENSP00000368835 YPEL5 121 Protein yippee-like 5; Yippee like family; Belongs to the yippee family 9606.ENSP00000368856 NFX1 1120 Transcriptional repressor NF-X1; Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination; PHD finger proteins 9606.ENSP00000368872 INSC 579 Protein inscuteable homolog; May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex. Involved in spindle orientation during mitosis. May regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium (By similarity); Armadillo-like helical domain containing 9606.ENSP00000368876 FAM179A 1019 TOG array regulator of axonemal microtubules protein 2; Family with sequence similarity 179, member A 9606.ENSP00000368880 FOXO1 655 Forkhead box protein O1; Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'- TT[G/A]TTTAC-3'. Activity suppressed by insulin. Main regulator of redox balance and osteoblast numbers and controls bone mass. Orchestrates the endocrine function of the skeleton in regulating glucose metabolism. Acts synergistically with ATF4 to suppress osteocal [...] 9606.ENSP00000368881 KIN 393 DNA/RNA-binding protein KIN17; Involved in DNA replication and the cellular response to DNA damage. May participate in DNA replication factories and create a bridge between DNA replication and repair mediated by high molecular weight complexes. May play a role in illegitimate recombination and regulation of gene expression. May participate in mRNA processing. Binds, in vitro, to double-stranded DNA. Also shown to bind preferentially to curved DNA in vitro and in vivo (By similarity). Binds via its C-terminal domain to RNA in vitro; Belongs to the KIN17 family 9606.ENSP00000368884 RPS6KA3 740 Ribosomal protein S6 kinase alpha-3; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequ [...] 9606.ENSP00000368887 PAK1IP1 392 P21-activated protein kinase-interacting protein 1; Negatively regulates the PAK1 kinase. PAK1 is a member of the PAK kinase family, which has been shown to play a positive role in the regulation of signaling pathways involving MAPK8 and RELA. PAK1 exists as an inactive homodimer, which is activated by binding of small GTPases such as CDC42 to an N-terminal regulatory domain. PAK1IP1 also binds to the N-terminus of PAK1, and inhibits the specific activation of PAK1 by CDC42. May be involved in ribosomal large subunit assembly; WD repeat domain containing 9606.ENSP00000368908 LHFP 200 LHFPL tetraspan subfamily member 6 protein; Lipoma HMGIC fusion partner 9606.ENSP00000368917 GCNT2 402 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells; Belongs to the glycosyltransferase 14 family 9606.ENSP00000368920 NHLRC3 347 NHL repeat containing 3 9606.ENSP00000368924 TFAP2A 437 Transcription factor AP-2-alpha; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 [...] 9606.ENSP00000368927 EIF1AX 144 Eukaryotic translation initiation factor 1A, X-chromosomal; Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits 9606.ENSP00000368931 CCDC112 529 Coiled-coil domain containing 112 9606.ENSP00000368952 STOML3 291 Stomatin-like protein 3; Required for the function of many mechanoreceptors. Modulate mechanotransduction channels and acid-sensing ion channels (ASIC) proteins. Potentiates PIEZO1 and PIEZO2 function by increasing their sensitivity to mechanical stimulations 9606.ENSP00000368959 REEP5 189 Receptor expression-enhancing protein 5; May promote functional cell surface expression of olfactory receptors; Belongs to the DP1 family 9606.ENSP00000368964 MAP7D2 773 MAP7 domain containing 2 9606.ENSP00000368965 HGSNAT 635 Heparan-alpha-glucosaminide N-acetyltransferase; Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase 9606.ENSP00000368966 TRPC3 921 Short transient receptor potential channel 3; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C, and by inositol 1,4,5- triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion; Transient receptor potential cation channels 9606.ENSP00000368970 UFM1 103 Ubiquitin-fold modifier 1; Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to substrate proteins as a monomer or a lysine-linked polymer. The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1-ligase E3 enzyme UFL1. This post-translational modification on lysine residues of proteins may play a crucial role in a number of cellular processes. TRIP4 ufmylation may for instance play a role in nuclear receptors-mediated transcription. Other substrates may include DDRGK1 with which it may play a [...] 9606.ENSP00000368976 KIFC3 833 Kinesin-like protein KIFC3; Minus-end microtubule-dependent motor protein. Involved in apically targeted transport (By similarity). Required for zonula adherens maintenance; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family 9606.ENSP00000368981 SLC35B3 401 Adenosine 3'-phospho 5'-phosphosulfate transporter 2; Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. Compensates for the insufficient expression of SLC35B2/PAPST1 during the synthesis of sulfated glycoconjugates in the colon; Solute carriers 9606.ENSP00000368982 KATNB1 655 Katanin p80 WD40 repeat-containing subunit B1; Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Micr [...] 9606.ENSP00000368984 EXOSC9 456 Exosome complex component RRP45; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] 9606.ENSP00000368986 OR6C65 312 Olfactory receptor 6C65; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000368987 OR6C75 312 Olfactory receptor 6C75; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000368989 OR6C3 311 Olfactory receptor 6C3; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000368990 OR6C1 312 Olfactory receptor 6C1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000368994 ARHGAP44 818 Rho GTPase-activating protein 44; GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP- bound states. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation; N-BAR domain containing 9606.ENSP00000369009 CXorf23 682 BCLAF1 and THRAP3 family member 3; Chromosome X open reading frame 23; Belongs to the BCLAF1/THRAP3 family 9606.ENSP00000369014 NDNF 568 Protein NDNF; Promotes matrix assembly and cell adhesiveness (By similarity). Promotes neuron migration, growth and survival as well as neurite outgrowth. Promotes endothelial cell survival, vessel formation and plays an important role in the process of revascularization through NOS3-dependent mechanisms 9606.ENSP00000369017 INSL3 157 Insulin-like 3; Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor; Belongs to the insulin family 9606.ENSP00000369027 TRPC4 977 Short transient receptor potential channel 4; Form a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion; Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily 9606.ENSP00000369038 EEF1E1 174 Eukaryotic translation elongation factor 1 epsilon-1; Positive modulator of ATM response to DNA damage 9606.ENSP00000369042 IPO7 1038 Importin-7; Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm [...] 9606.ENSP00000369045 SPINK4 86 Serine peptidase inhibitor, Kazal type 4 9606.ENSP00000369050 CYP1A1 512 Cytochrome P450 1A1; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics 9606.ENSP00000369055 B4GALT1 398 Beta-1,4-galactosyltransferase 1; The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids; Beta 4-glycosyltransferases 9606.ENSP00000369071 POSTN 836 Periostin; Induces cell attachment and spreading and plays a role in cell adhesion. Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX (By similarity); Gla domain containing 9606.ENSP00000369075 CENPB 599 Major centromere autoantigen B; Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box. May organize arrays of centromere satellite DNA into a higher-order structure which then directs centromere formation and kinetochore assembly in mammalian chromosomes (Probable); DNA transposon derived genes 9606.ENSP00000369080 SPEF1 236 Sperm flagellar protein 1; Microtubule-associated protein involved in the stabilization of microtubules along the axis of migration during radial intercalation. Promotes the establishment and stabilization of an axis of microtubules required for the active migration of cells into the outer epithelium (By similarity). Microtubule- associated protein that promotes microtubule bundling and stabilizes microtubules against depolymerization in response to cold shock (By similarity) 9606.ENSP00000369081 TXNDC5 432 Thioredoxin domain-containing protein 5; Possesses thioredoxin activity. Has been shown to reduce insulin disulfide bonds. Also complements protein disulfide- isomerase deficiency in yeast (By similarity) 9606.ENSP00000369099 ADPRM 342 Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase; Hydrolyzes ADP-ribose, IDP-ribose, CDP-glycerol, CDP- choline and CDP-ethanolamine, but not other non-reducing ADP- sugars or CDP-glucose. May be involved in immune cell signaling as suggested by the second-messenger role of ADP-ribose, which activates TRPM2 as a mediator of oxidative/nitrosative stress (By similarity) 9606.ENSP00000369126 CSNK1A1L 337 Casein kinase I isoform alpha-like; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity) 9606.ENSP00000369127 DNAJA1 397 DnaJ homolog subfamily A member 1; Co-chaperone for HSPA8/Hsc70. Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro). Plays a role in protein transport into mitochondria via its role as co- chaperone. Functions as co-chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis. Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV; DNAJ heat shock proteins 9606.ENSP00000369129 DSP 2871 Desmoplakin; Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin- plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes; Belongs to the plakin or cytolinker family 9606.ENSP00000369131 SIN3B 1162 Paired amphipathic helix protein Sin3b; Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription. With FOXK1, regulates cell cycle progression probably by repressing cell cycle inhibitor genes expression 9606.ENSP00000369134 PDHA1 428 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle 9606.ENSP00000369146 MT1M 61 Metallothionein-1M; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids 9606.ENSP00000369154 SMAD9 467 Mothers against decapentaplegic homolog 9; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD); Belongs to the dwarfin/SMAD family 9606.ENSP00000369157 OR10A4 315 Olfactory receptor 10A4; Odorant receptor (Potential). May be involved in taste perception; Olfactory receptors, family 10 9606.ENSP00000369162 RIOK1 568 Serine/threonine-protein kinase RIO1; Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre- rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor. The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic associ [...] 9606.ENSP00000369176 NDUFB6 128 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000369198 GPR64 1017 Adhesion G-protein coupled receptor G2; Orphan receptor. Could be involved in a signal transduction pathway controlling epididymal function and male fertility. May regulate fluid exchange within epididymis 9606.ENSP00000369210 SOHLH2 425 Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2; Probable transcription factor, which may be involved in spermatogenesis and oogenesis; Basic helix-loop-helix proteins 9606.ENSP00000369213 DDX58 925 Probable ATP-dependent RNA helicase DDX58; Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and proinflammatory cytokines. Its ligands include: 5'- triphosphorylated ssRNA and dsRNA and short dsRNA (<1 kb in length). In addition to the 5'-triphosphate moiety, blunt-end base pairing at the 5'-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impac [...] 9606.ENSP00000369217 ARIH1 557 E3 ubiquitin-protein ligase ARIH1; E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin- conjugating enzyme E2 UBE2L3. Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-RING ubiquitin ligase (CRL) complexes and initiating ubiquitination of CRL substrates: associates with CRL complexes and specifically mediates addition of the first ubiquitin on CRLs targets. The initial ubiquitin is then elongated by CDC34/UBE2R1 and UBE2R2. E3 ubiquitin-protein ligase activity is activated upon binding to neddylated cullin [...] 9606.ENSP00000369238 ADAM32 787 Disintegrin and metalloproteinase domain-containing protein 32; May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein; ADAM metallopeptidase domain containing 9606.ENSP00000369251 MAB21L1 359 Putative nucleotidyltransferase MAB21L1; Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (By similarity). It is unclear whether it displays nucleotidyltransferase activity in vivo. Binds single-stranded RNA (ssRNA) 9606.ENSP00000369257 RPGRIP1L 1315 Protein fantom; Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left- right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled protein [...] 9606.ENSP00000369268 CNGA4 575 Cyclic nucleotide-gated cation channel alpha-4; Second messenger, cAMP, causes the opening of cation- selective cyclic nucleotide-gated (CNG) channels and depolarization of the neuron (olfactory sensory neurons, OSNs). CNGA4 is the modulatory subunit of this channel which is known to play a central role in the transduction of odorant signals and subsequent adaptation. By accelerating the calcium-mediated negative feedback in olfactory signaling it allows rapid adaptation to odor stimulation and extends its range of odor detection (By similarity) 9606.ENSP00000369270 RREB1 1742 Ras-responsive element-binding protein 1; Transcription factor that binds specifically to the RAS- responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1; Zinc fingers C2H2-type 9606.ENSP00000369274 PHKA2 1235 Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin 9606.ENSP00000369286 LY86 162 Lymphocyte antigen 86; May cooperate with CD180 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) and cytokine production. Important for efficient CD180 cell surface expression (By similarity) 9606.ENSP00000369291 LETM2 491 LETM1 domain-containing protein LETM2, mitochondrial; Leucine zipper and EF-hand containing transmembrane protein 2 9606.ENSP00000369292 SAMD9 1589 Sterile alpha motif domain-containing protein 9; May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion; Sterile alpha motif domain containing 9606.ENSP00000369293 IL2RA 272 Interleukin-2 receptor subunit alpha; Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells; CD molecules 9606.ENSP00000369299 TRIM22 498 E3 ubiquitin-protein ligase TRIM22; Interferon-induced antiviral protein involved in cell innate immunity. The antiviral activity could in part be mediated by TRIM22-dependent ubiquitination of viral proteins. Plays a role in restricting the replication of HIV-1, encephalomyocarditis virus (EMCV) and hepatitis B virus (HBV). Acts as a transcriptional repressor of HBV core promoter. May have E3 ubiquitin-protein ligase activity; Minor histocompatibility antigens 9606.ENSP00000369314 GLRX 106 Glutaredoxin-1; Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins; Glutaredoxin domain containing 9606.ENSP00000369317 KRT6A 564 Keratin, type II cytoskeletal 6A; Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair; Belongs to the intermediate filament family 9606.ENSP00000369318 RHOBTB3 611 Rho-related BTB domain-containing protein 3; Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9; BTB domain containing 9606.ENSP00000369320 RS1 224 Retinoschisin; Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells. Required for normal structure and function of the retina 9606.ENSP00000369325 CDKL5 1030 Cyclin-dependent kinase-like 5; Mediates phosphorylation of MECP2; Cilia and flagella associated 9606.ENSP00000369328 LINGO2 606 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2; Leucine rich repeat and Ig domain containing 2 9606.ENSP00000369335 FBXO18 1094 F-box DNA helicase 1; 3'-5' DNA helicase and substrate-recognition component of the SCF(FBXO18) E3 ubiquitin ligase complex that plays a key role in response to stalled/damaged replication forks. Involved in genome maintenance by acting as an anti-recombinogenic helicase and preventing extensive strand exchange during homologous recombination: promotes RAD51 filament dissolution from stalled forks, thereby inhibiting homologous recombination and preventing excessive recombination. Also promotes cell death and DNA double-strand breakage in response to replication stress: together with M [...] 9606.ENSP00000369344 GPR150 434 Probable G-protein coupled receptor 150; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000369346 ARSK 536 Arylsulfatase family member K; Sulfatases 9606.ENSP00000369349 KRT81 505 Keratin, type II cuticular Hb1; Keratins, type II 9606.ENSP00000369371 EQTN 294 Equatorin; Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis 9606.ENSP00000369372 BEND2 799 BEN domain containing 2 9606.ENSP00000369373 TRIM5 493 Tripartite motif-containing protein 5; Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1-UBE2N (also [...] 9606.ENSP00000369375 TEK 1124 Angiopoietin-1 receptor; Tyrosine-protein kinase that acts as cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of proinflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required for post- natal hematopoiesis. After birth, activates or inhibits ang [...] 9606.ENSP00000369380 SCML1 329 Sex comb on midleg-like protein 1; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. May be involved in spermatogenesis during sexual maturation (By similarity); Sterile alpha motif domain containing 9606.ENSP00000369383 MPV17 176 Protein Mpv17; Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance; Belongs to the peroxisomal membrane protein PXMP2/4 family 9606.ENSP00000369390 CDK14 469 Cyclin-dependent kinase 14; Serine/threonine-protein kinase involved in the control of the eukaryotic cell cycle, whose activity is controlled by an associated cyclin. Acts as a cell-cycle regulator of Wnt signaling pathway during G2/M phase by mediating the phosphorylation of LRP6 at 'Ser-1490', leading to the activation of the Wnt signaling pathway. Acts as a regulator of cell cycle progression and cell proliferation via its interaction with CCDN3. Phosphorylates RB1 in vitro, however the relevance of such result remains to be confirmed in vivo. May also play a role in meiosis, neuro [...] 9606.ENSP00000369391 RPP40 363 Ribonuclease P protein subunit p40; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends 9606.ENSP00000369395 LRRC19 370 Leucine-rich repeat-containing protein 19; Leucine rich repeat containing 19 9606.ENSP00000369399 SLC4A11 918 Sodium bicarbonate transporter-like protein 11; Transporter which plays an important role in sodium- mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into t [...] 9606.ENSP00000369400 NHS 1630 Nance-Horan syndrome protein; May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development; Belongs to the NHS family 9606.ENSP00000369407 SLC25A35 295 Solute carrier family 25 member 35; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000369409 EXOC3L4 722 Exocyst complex component 3 like 4; Belongs to the SEC6 family 9606.ENSP00000369411 RFC3 356 Replication factor C subunit 3; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1; AAA ATPases 9606.ENSP00000369419 STEAP4 459 Metalloreductase STEAP4; Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+) (By similarity). Uses NADP(+) as acceptor (By similarity). Plays a role in systemic metabolic homeostasis, integrating inflammatory and metabolic responses (By similarity). Associated with obesity and insulin- resistance. Involved in inflammatory arthritis, through the regulation of inflammatory cytokines. Inhibits anchorage-independent cell proliferation; STEAP family 9606.ENSP00000369424 RBBP7 469 Histone-binding protein RBBP7; Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and [...] 9606.ENSP00000369431 CAAP1 361 Caspase activity and apoptosis inhibitor 1; Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop 9606.ENSP00000369436 ANKRD16 361 Ankyrin repeat domain-containing protein 16; Ankyrin repeat domain containing 9606.ENSP00000369438 KRTAP10-10 251 Keratin-associated protein 10-10; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000369440 TRIM6 516 Tripartite motif-containing protein 6; E3 ubiquitin-protein ligase which ubiquitinates MYC and inhibits its transcription activation activity, maintaining the pluripotency of embryonic stem cells (By similarity). Involved in the synthesis of unanchored K48-linked polyubiquitin chains which interact with and activate the serine/threonine kinase IKBKE, leading to phosphorylation of STAT1 and stimulation of an antiviral response; Ring finger proteins 9606.ENSP00000369442 KL 1012 Klotho; May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity); Belongs to the glycosyl hydrolase 1 family. Klotho subfamily 9606.ENSP00000369456 ITPA 194 Inosine triphosphate pyrophosphatase; Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions 9606.ENSP00000369461 ECI2 394 Enoyl-CoA delta isomerase 2, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity) 9606.ENSP00000369465 TXLNG 528 Gamma-taxilin; May be involved in intracellular vesicle traffic. Inhibits ATF4-mediated transcription, possibly by dimerizing with ATF4 to form inactive dimers that cannot bind DNA. May be involved in regulating bone mass density through an ATF4-dependent pathway. May be involved in cell cycle progression 9606.ENSP00000369473 N4BP2L1 243 NEDD4 binding protein 2 like 1 9606.ENSP00000369497 BRCA2 3418 Breast cancer type 2 susceptibility protein; Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. B [...] 9606.ENSP00000369500 SYAP1 352 Synapse associated protein 1 9606.ENSP00000369513 ATP6AP1L 224 V-type proton ATPase subunit S1-like protein; ATPase H+ transporting accessory protein 1 like 9606.ENSP00000369519 MTAP 283 S-methyl-5'-thioadenosine phosphorylase; Catalyzes the reversible phosphorylation of S-methyl-5'- thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S- adenosylmethionine. Has broad substrate specificity with 6- aminopurine nucleosides as preferred substrates; Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily 9606.ENSP00000369530 ALOX15B 676 Arachidonate 15-lipoxygenase B; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid to 15S- hydroperoxyeicosatetraenoic acid/(15S)-HPETE. Also acts on linoleic acid to produce 13-hydroxyoctadecadienoic acid/13-HPODE. Has no detectable 8S-lipoxygenase activity but reacts with (8S)- HPETE to produce (8S,15S)-diHPETE. May regulate progression through the cell cycle and cell proliferation. May also regulate cytokine secretion by m [...] 9606.ENSP00000369531 UBQLNL 475 Ubiquilin-like protein; Ubiquilin family 9606.ENSP00000369538 GDI2 445 Rab GDP dissociation inhibitor beta; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them 9606.ENSP00000369545 NABP2 211 SOSS complex subunit B1; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-s [...] 9606.ENSP00000369547 S100G 79 S100 calcium binding protein G; Belongs to the S-100 family 9606.ENSP00000369553 IFNA8 189 Interferon alpha-8; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000369554 IFNA2 188 Interferon alpha-2; Produced by macrophages, IFN-alpha have antiviral activities; Interferons 9606.ENSP00000369558 IFNA6 189 Interferon alpha-6; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000369559 OR51I1 314 Olfactory receptor 51I1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000369564 IFNA16 189 Interferon alpha-16; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000369566 IFNA10 189 Interferon alpha-10; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000369568 OR51B6 312 Olfactory receptor 51B6; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000369571 IFNA14 189 Interferon alpha-14; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000369573 OR51B4 310 Olfactory receptor 51B4; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000369574 IFNA21 189 Interferon alpha-21; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000369578 IFNW1 195 Interferon omega 1; Interferons 9606.ENSP00000369581 IFNB1 187 Interferon beta; Has antiviral, antibacterial and anticancer activities; Belongs to the alpha/beta interferon family 9606.ENSP00000369586 HBE1 147 Hemoglobin subunit epsilon; The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin; Belongs to the globin family 9606.ENSP00000369592 CCDC85C 419 Coiled-coil domain-containing protein 85C; May play an important role in cortical development, especially in the maintenance of radial glia 9606.ENSP00000369599 FOCAD 1801 Focadhesin; Potential tumor suppressor in gliomas; Armadillo-like helical domain containing 9606.ENSP00000369604 FBXO16 292 F-box only protein 16; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation; F-boxes other 9606.ENSP00000369609 HBG2 147 Hemoglobin subunit gamma-2; Gamma chains make up the fetal hemoglobin F, in combination with alpha chains; Belongs to the globin family 9606.ENSP00000369611 SPZ1 430 Spermatogenic leucine zipper protein 1; Transcription factor that binds to the DNA sequence 5'- CANNTG-3'(E box) and the G-box motif. May play an important role in the regulation of cell proliferation and differentiation during spermatogenesis (By similarity); Protein phosphatase 1 regulatory subunits 9606.ENSP00000369614 CNTROB 925 Centrobin; Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis 9606.ENSP00000369618 FASTKD5 764 FAST kinase domain-containing protein 5, mitochondrial; Plays an important role in the processing of non- canonical mitochondrial mRNA precursors; FASTK mitochondrial RNA binding family 9606.ENSP00000369627 FAM50B 325 Protein FAM50B; Family with sequence similarity 50 member B 9606.ENSP00000369636 PXDC1 231 PX domain containing 1 9606.ENSP00000369643 GRPR 384 Gastrin-releasing peptide receptor; Receptor for gastrin-releasing peptide (GRP). Signals via association with G proteins that activate a phosphatidylinositol-calcium second messenger system, resulting in Akt phosphorylation. Contributes to the regulation of food intake. Contributes to the perception of prurient stimuli and transmission of itch signals in the spinal cord that promote scratching behavior, but does not play a role in the perception of pain. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory (By si [...] 9606.ENSP00000369647 AVP 164 Vasopressin-neurophysin 2-copeptin; Neurophysin 2 specifically binds vasopressin; Endogenous ligands 9606.ENSP00000369654 HBD 147 Hemoglobin subunit delta; Involved in oxygen transport from the lung to the various peripheral tissues; Belongs to the globin family 9606.ENSP00000369666 FBXL19 694 F-box/LRR-repeat protein 19; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and leucine rich repeat proteins 9606.ENSP00000369674 BCL7C 242 B-cell CLL/lymphoma 7 protein family member C; May play an anti-apoptotic role; BAF complex 9606.ENSP00000369677 EMILIN1 1016 EMILIN-1; May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity; EMI domain containing 9606.ENSP00000369681 USP3 520 Ubiquitin carboxyl-terminal hydrolase 3; Hydrolase that deubiquitinates monoubiquitinated target proteins such as histone H2A and H2B. Required for proper progression through S phase and subsequent mitotic entry. May regulate the DNA damage response (DDR) checkpoint through deubiquitination of H2A at DNA damage sites. Associates with the chromatin; Ubiquitin specific peptidases 9606.ENSP00000369682 MRPS26 205 Mitochondrial ribosomal protein S26; Belongs to the mitochondrion-specific ribosomal protein mS26 family 9606.ENSP00000369689 CALML5 146 Calmodulin-like protein 5; Binds calcium. May be involved in terminal differentiation of keratinocytes; EF-hand domain containing 9606.ENSP00000369695 MLLT3 568 Protein AF-9; Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. Recognizes and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylate [...] 9606.ENSP00000369699 TMEM27 222 Collectrin; Regulator of SNARE complex function. Stimulator of beta cell replication; Belongs to the TMEM27 family 9606.ENSP00000369702 LHFPL2 228 LHFPL tetraspan subfamily member 2 protein; Plays a role in female and male fertility. Involved in distal reproductive tract development; LHFPL tetraspan proteins 9606.ENSP00000369703 TUBB2A 445 Tubulin beta-2A chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity); Tubulins 9606.ENSP00000369716 CHD3 2059 Chromodomain-helicase-DNA-binding protein 3; Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity; Belongs to the SNF2/RAD54 helicase family 9606.ENSP00000369725 OR52A1 312 Olfactory receptor 52A1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000369728 OR52J3 311 Olfactory receptor 52J3; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000369729 OR51A2 313 Olfactory receptor 51A2; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000369731 OR51A4 313 Olfactory receptor 51A4; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000369738 OR51T1 354 Olfactory receptor 51T1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000369739 BPHL 291 Valacyclovir hydrolase; Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000369753 MMP26 261 Matrix metalloproteinase-26; May hydrolyze collagen type IV, fibronectin, fibrinogen, beta-casein, type I gelatin and alpha-1 proteinase inhibitor. Is also able to activate progelatinase B; Belongs to the peptidase M10A family 9606.ENSP00000369755 C2CD4B 364 C2 calcium-dependent domain-containing protein 4B; May be involved in inflammatory process. May regulate cell architecture and adhesion; Belongs to the C2CD4 family 9606.ENSP00000369756 PTPRA 802 Receptor-type tyrosine-protein phosphatase alpha; Protein tyrosine phosphatase, receptor type A; Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily 9606.ENSP00000369757 RPS6 249 40S ribosomal protein S6; May play an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA; S ribosomal proteins 9606.ENSP00000369774 ENSG00000197054 397 Zinc finger protein 763; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000369777 ZNF768 540 Zinc finger protein 768; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000369784 TUBAL3 446 Tubulin alpha chain-like 3; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity); Belongs to the tubulin family 9606.ENSP00000369786 PIR 290 Pirin; Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro); Belongs to the pirin family 9606.ENSP00000369798 UCN3 161 Urocortin-3; Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress 9606.ENSP00000369810 VPS16 839 Vacuolar protein sorting-associated protein 16 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late [...] 9606.ENSP00000369814 AKR1C4 323 Aldo-keto reductase family 1 member C4; Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha- androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20- alpha-hydroxysteroid dehydrogenase activity. The biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol leads to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route; Aldo-keto reductases 9606.ENSP00000369816 SHBG 402 Sex hormone-binding globulin; Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration 9606.ENSP00000369820 PIGA 484 Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily 9606.ENSP00000369822 NQO2 231 Ribosyldihydronicotinamide dehydrogenase [quinone]; The enzyme apparently serves as a quinone reductase in connection with conjugation reactions of hydroquinones involved in detoxification pathways as well as in biosynthetic processes such as the vitamin K-dependent gamma-carboxylation of glutamate residues in prothrombin synthesis; Belongs to the NAD(P)H dehydrogenase (quinone) family 9606.ENSP00000369840 TEX26 289 Testis-expressed protein 26; Testis expressed 26 9606.ENSP00000369849 MEDAG 303 Mesenteric estrogen-dependent adipogenesis protein; Involved in processes that promote adipocyte differentiation, lipid accumulation, and glucose uptake in mature adipocytes 9606.ENSP00000369853 C2CD2 696 C2 calcium dependent domain containing 2 9606.ENSP00000369855 ASB9 294 Ankyrin repeat and SOCS box protein 9; Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes at least two forms of creatine kinase, CKB and CKMT1A; Ankyrin repeat domain containing 9606.ENSP00000369857 FAM175A 409 BRCA1-A complex subunit Abraxas 1; Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX 9606.ENSP00000369860 MOSPD2 518 Motile sperm domain-containing protein 2; Promotes migration of primary monocytes and neutrophils, in response to various chemokines 9606.ENSP00000369862 COL4A3BP 752 Collagen type IV alpha-3-binding protein; Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner; Pleckstrin homology domain containing 9606.ENSP00000369863 FAM57B 274 Protein FAM57B; Involved in ceramide synthesis; TLC domain containing 9606.ENSP00000369871 HAUS6 955 HAUS augmin-like complex subunit 6; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Promotes the nucleation of microtubules from the spindle through recruitment of NEDD1 and gamma-tubulin; Belongs to the HAUS6 family 9606.ENSP00000369887 SLTM 1034 SAFB-like transcription modulator; When overexpressed, acts as a general inhibitor of transcription that eventually leads to apoptosis; RNA binding motif containing 9606.ENSP00000369889 COL2A1 1487 Collagen alpha-1(II) chain; Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces 9606.ENSP00000369895 GEMIN8 242 Gem-associated protein 8; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] 9606.ENSP00000369897 CARS 831 Cysteine--tRNA ligase, cytoplasmic; Aminoacyl tRNA synthetases, Class I; Belongs to the class-I aminoacyl-tRNA synthetase family 9606.ENSP00000369899 RRAGA 313 Ras-related GTP-binding protein A; Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway. May play a direct role in a TNF-alpha signaling pathway leading to induction of cell death. May [...] 9606.ENSP00000369907 FAM154A 474 Stabilizer of axonemal microtubules 1; May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature; Belongs to the FAM154 family 9606.ENSP00000369915 NAP1L4 375 Nucleosome assembly protein 1-like 4; Acts as histone chaperone in nucleosome assembly; Belongs to the nucleosome assembly protein (NAP) family 9606.ENSP00000369921 ADAMTSL1 1762 ADAMTS-like protein 1; I-set domain containing; ADAMTS like 9606.ENSP00000369927 AKR1C3 323 Aldo-keto reductase family 1 member C3; Catalyzes the conversion of aldehydes and ketones to alcohols. Catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ) and the oxidation of 9-alpha,11-beta- PGF2 to PGD2. Functions as a bi-directional 3-alpha-, 17-beta- and 20-alpha HSD. Can interconvert active androgens, estrogens and progestins with their cognate inactive metabolites. Preferentially transforms androstenedione (4-dione) to testosterone; Belongs to the aldo/keto reductase family 9606.ENSP00000369948 SLC22A18 424 Solute carrier family 22 member 18; May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney; Solute carriers 9606.ENSP00000369959 TMEM239 152 Transmembrane protein 239 9606.ENSP00000369960 ADRA1A 475 Alpha-1A adrenergic receptor; This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine(PE)-stimulated ERK signaling in cardiac myocytes; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1A sub-subfamily 9606.ENSP00000369962 IGSF5 407 Immunoglobulin superfamily member 5; Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia- spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells- Sertoli cells (By similarity); Belongs to the immunoglobulin superfamily 9606.ENSP00000369963 C20orf141 165 Uncharacterized protein C20orf141; Chromosome 20 open reading frame 141 9606.ENSP00000369965 BTF3 206 Transcription factor BTF3; When associated with NACA, prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. BTF3 is also a general transcription factor that can form a stable complex with RNA polymerase II. Required for the initiation of transcription 9606.ENSP00000369967 ENSG00000241690 254 CDNA FLJ26142 fis, clone TST04526; Transmembrane protein 239 9606.ENSP00000369976 EGFL6 554 Epidermal growth factor-like protein 6; May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly (By similarity); Belongs to the nephronectin family 9606.ENSP00000369979 CPXM1 734 Probable carboxypeptidase X1; May be involved in cell-cell interactions. No carboxypeptidase activity was found yet (By similarity); M14 carboxypeptidases 9606.ENSP00000369981 SH3GL2 352 Endophilin-A1; Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes; N-BAR domain containing 9606.ENSP00000369989 KATNAL1 490 Katanin p60 ATPase-containing subunit A-like 1; Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity). Has microtubule-severing activity in vitro; Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 1 sub-subfamily 9606.ENSP00000369996 ATXN3L 355 Ataxin-3-like protein; Deubiquitinating enzyme that cleaves both 'Lys-48'- linked and 'Lys-63'-linked poly-ubiquitin chains (in vitro); MJD deubiquinating enzymes 9606.ENSP00000370003 BNIP3L 219 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like; Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEA [...] 9606.ENSP00000370010 TMSB4X 44 Thymosin beta-4; Plays an important role in the organization of the cytoskeleton (By similarity). Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization 9606.ENSP00000370013 PTCD2 388 Pentatricopeptide repeat-containing protein 2, mitochondrial; Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function 9606.ENSP00000370021 CNTLN 1406 Centlein; Required for centrosome cohesion and recruitment of CEP68 to centrosomes 9606.ENSP00000370022 EBF4 598 Transcription factor COE4; Transcriptional factor which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'; Belongs to the COE family 9606.ENSP00000370023 HADHA 763 Trifunctional enzyme subunit alpha, mitochondrial; Bifunctional subunit; In the central section; belongs to the 3-hydroxyacyl- CoA dehydrogenase family 9606.ENSP00000370034 TLR7 1049 Toll-like receptor 7; Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR7 is a nucleotide-sensing TLR which is activated by single-stranded RNA. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity) 9606.ENSP00000370047 BNC2 1099 Zinc finger protein basonuclin-2; Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes; Zinc fingers C2H2-type 9606.ENSP00000370055 UBL3 117 Ubiquitin-like protein 3; Ubiquitin like 3 9606.ENSP00000370057 FRMPD4 1322 FERM and PDZ domain-containing protein 4; Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate; FERM domain containing 9606.ENSP00000370058 C9orf92 108 Putative uncharacterized protein C9orf92; Chromosome 9 open reading frame 92 9606.ENSP00000370074 SERPINB9 376 Serpin B9; Granzyme B inhibitor; Serpin peptidase inhibitors 9606.ENSP00000370077 CCDC171 1326 Coiled-coil domain containing 171 9606.ENSP00000370078 PDE4A 886 cAMP-specific 3',5'-cyclic phosphodiesterase 4A; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes; Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily 9606.ENSP00000370083 SMN1 294 Survival of motor neuron 1, telomeric; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex b [...] 9606.ENSP00000370088 AMELX 205 Amelogenin, X isoform; Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel; Belongs to the amelogenin family 9606.ENSP00000370104 GPS2 327 G protein pathway suppressor 2; Suppresses G-protein- and mitogen-activated protein kinase-mediated signal transduction. May act as a regulator of adipogenisis (By similarity) 9606.ENSP00000370109 PSIP1 530 PC4 and SFRS1-interacting protein; Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell terminal differentiation. May play a protective role during stress-induced apoptosis. Isoform 2 is a more general and stronger transcriptional coactivator. Isoform 2 may also act as an adapter to coordinate pre-mRNA splicing. Cellular cofactor for lentiviral integration; Heparin binding growth factor family 9606.ENSP00000370115 SERPINB1 379 Leukocyte elastase inhibitor; Regulates the activity of the neutrophil proteases elastase, cathepsin G, proteinase-3, chymase, chymotrypsin, and kallikrein-3. Also functions as a potent intracellular inhibitor of granzyme H; Serpin peptidase inhibitors 9606.ENSP00000370119 SMN2 294 Survival motor neuron protein; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the ch [...] 9606.ENSP00000370125 HMGN1 100 Non-histone chromosomal protein HMG-14; Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity); Belongs to the HMGN family 9606.ENSP00000370126 SERF1B 110 Small EDRK-rich factor 1B; Belongs to the SERF family 9606.ENSP00000370128 SLC7A1 629 High affinity cationic amino acid transporter 1; High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues; Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family 9606.ENSP00000370129 AKR1C2 323 Aldo-keto reductase family 1 member C2; Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha- DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability 9606.ENSP00000370150 WRNIP1 665 ATPase WRNIP1; Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG-I/DDX58 'Lys-63'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS; AAA ATPases 9606.ENSP00000370192 SLC46A3 463 Solute carrier family 46 member 3; Belongs to the major facilitator superfamily. SLC46A family 9606.ENSP00000370193 AK6 264 Transcription initiation factor TFIID subunit 9; Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. AMP and dAMP are the preferred substrates, but CMP and dCMP are also good substrates. IMP is phosphorylated to a much lesser extent. All nucleoside triphosphates ATP, GTP, UTP, CTP, dATP, dCTP, dGTP, and TTP are accepted as phosphate donors. CTP is the best phosphate donor, followed by UTP, ATP, GTP and dCTP. May have a role in nuclear energy homeostasis. Has a [...] 9606.ENSP00000370194 GMDS 372 GDP-mannose 4,6 dehydratase; Catalyzes the conversion of GDP-D-mannose to GDP-4- dehydro-6-deoxy-D-mannose; Belongs to the NAD(P)-dependent epimerase/dehydratase family. GDP-mannose 4,6-dehydratase subfamily 9606.ENSP00000370196 SBF1 1893 Myotubularin-related protein 5; Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active G [...] 9606.ENSP00000370200 SNAPC3 411 snRNA-activating protein complex subunit 3; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box; Belongs to the SNAPC3/SRD2 family 9606.ENSP00000370201 TAF9 172 Adenylate kinase isoenzyme 6; Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. AMP and dAMP are the preferred substrates, but CMP and dCMP are also good substrates. IMP is phosphorylated to a much lesser extent. All nucleoside triphosphates ATP, GTP, UTP, CTP, dATP, dCTP, dGTP, and TTP are accepted as phosphate donors. CTP is the best phosphate donor, followed by UTP, ATP, GTP and dCTP. May have a role in nuclear energy homeostasis. Has also ATPase activity [...] 9606.ENSP00000370208 RABGEF1 505 RAB guanine nucleotide exchange factor 1; VPS9 domain containing 9606.ENSP00000370213 CLCN4 760 H(+)/Cl(-) exchange transporter 4; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons; Belongs to the chloride channel (TC 2.A.49) family. ClC-4/CLCN4 subfamily 9606.ENSP00000370214 CENPO 300 Centromere protein O; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Modulates the kinetochore-bound levels of NDC80 complex; Constitutive centromere associated network 9606.ENSP00000370215 NOXRED1 359 NADP-dependent oxidoreductase domain-containing protein 1; Probable oxidoreductase 9606.ENSP00000370222 POMP 141 Proteasome maturation protein; Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum 9606.ENSP00000370223 IDH3B 385 Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial; Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers 9606.ENSP00000370224 PARM1 310 Prostate androgen-regulated mucin-like protein 1; May regulate TLP1 expression and telomerase activity, thus enabling certain prostatic cells to resist apoptosis 9606.ENSP00000370242 WWC3 1092 Protein WWC3; WWC family member 3 9606.ENSP00000370253 NKX3-1 234 Homeobox protein Nkx-3.1; Transcription factor, which binds preferentially the consensus sequence 5'-TAAGT[AG]-3' and can behave as a transcriptional repressor. Plays an important role in normal prostate development, regulating proliferation of glandular epithelium and in the formation of ducts in prostate. Acts as a tumor suppressor controlling prostate carcinogenesis, as shown by the ability to inhibit proliferation and invasion activities of PC-3 prostate cancer cells; Belongs to the NK-3 homeobox family 9606.ENSP00000370254 AKR1C1 323 Aldo-keto reductase family 1 member C1; Converts progesterone to its inactive form, 20-alpha- dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation; Belongs to the aldo/keto reductase family 9606.ENSP00000370256 FOXC1 553 Forkhead box protein C1; DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. Acts either as a transcriptional activator or repressor. Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes. Upon DNA-binding, promotes DNA bending. Acts as a transcriptional coactivator. Stimulates Indian hedgehog (Ihh)- induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By s [...] 9606.ENSP00000370258 EIF3CL 914 Eukaryotic translation initiation factor 3 subunit C-like protein; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-term [...] 9606.ENSP00000370288 SELO 669 Selenoprotein O; May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein 9606.ENSP00000370293 HUS1B 278 Checkpoint protein HUS1B; HUS1 checkpoint clamp component B; Belongs to the HUS1 family 9606.ENSP00000370297 CER1 267 Cerberus; Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity); Belongs to the DAN family 9606.ENSP00000370299 SHROOM2 1616 Protein Shroom2; May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity); Belongs to the shroom family 9606.ENSP00000370303 ZDHHC21 265 Palmitoyltransferase ZDHHC21; Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear receptor (By similarity); Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000370337 CEP152 1710 Centrosomal protein of 152 kDa; Necessary for centrosome duplication; the function seems also to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Acts as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, 2 molecules involved in centriole formation. Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure. Also plays a key role in deuterosome-mediated centriole [...] 9606.ENSP00000370340 NFIB 494 Nuclear factor 1 B-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication; Belongs to the CTF/NF-I family 9606.ENSP00000370343 IRF4 451 Interferon regulatory factor 4; Transcriptional activator. Binds to the interferon- stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 and [...] 9606.ENSP00000370345 PAN3 887 PAN2-PAN3 deadenylation complex subunit PAN3; Regulatory subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA deca [...] 9606.ENSP00000370372 NLN 704 Neurolysin, mitochondrial; Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A; Belongs to the peptidase M3 family 9606.ENSP00000370373 FKBP1B 108 Peptidyl-prolyl cis-trans isomerase FKBP1B; Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Belongs to the FKBP-type PPIase family. FKBP1 subfamily 9606.ENSP00000370376 DUT 252 Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial; This enzyme is involved in nucleotide metabolism: it produces dUMP, the immediate precursor of thymidine nucleotides and it decreases the intracellular concentration of dUTP so that uracil cannot be incorporated into DNA; Belongs to the dUTPase family 9606.ENSP00000370377 PITRM1 1038 Presequence protease, mitochondrial; ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference; Belongs to the peptidase M16 family. PreP subfamily 9606.ENSP00000370394 RUFY3 620 Protein RUFY3; Plays a role in the generation of neuronal polarity formation and axon growth (By similarity). Implicated in the formation of a single axon by developing neurons (By similarity). May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes (By similarity). Plays a role in the formation of F-actin-enriched protrusive structures at the cell periphery. Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones (By similarity). Promotes gastric cancer cell migration and inva [...] 9606.ENSP00000370395 SGTB 304 Small glutamine-rich tetratricopeptide repeat-containing protein beta; Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity; Tetratricopeptide repeat domain containing 9606.ENSP00000370408 CDX2 313 Homeobox protein CDX-2; Involved in the transcriptional regulation of multiple genes expressed in the intestinal epithelium. Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine; HOXL subclass homeoboxes 9606.ENSP00000370414 ATP5EP2 51 ATP synthase subunit epsilon-like protein, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary me [...] 9606.ENSP00000370419 TTC38 469 Tetratricopeptide repeat domain containing; Belongs to the TTC38 family 9606.ENSP00000370420 VCX3B 246 Variable charge X-linked protein 3B; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Variable charge X/Y family 9606.ENSP00000370421 PDX1 283 Pancreas/duodenum homeobox protein 1; Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development [...] 9606.ENSP00000370430 PNPLA4 253 Patatin-like phospholipase domain-containing protein 4; Lipid hydrolase; Patatin like phospholipase domain containing 9606.ENSP00000370443 ADAMTS6 1117 ADAM metallopeptidase with thrombospondin type 1 motif 6 9606.ENSP00000370447 VCX 206 Variable charge X-linked protein 1; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Variable charge X/Y family 9606.ENSP00000370460 CWC27 472 Peptidyl-prolyl cis-trans isomerase CWC27 homolog; PPIases accelerate the folding of proteins; Belongs to the cyclophilin-type PPIase family 9606.ENSP00000370473 IGFBP3 297 Insulin-like growth factor-binding protein 3; IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Also exhibits IGF-independent antiproliferative and apoptotic effects mediated by its receptor TMEM219/IGFBP-3R 9606.ENSP00000370479 VCX3A 186 Variable charge X-linked protein 3; May mediate a process in spermatogenesis or may play a role in sex ratio distortion; Variable charge X/Y family 9606.ENSP00000370485 NLGN4X 816 Neuroligin-4, X-linked; Putative neuronal cell surface protein involved in cell- cell-interactions; Belongs to the type-B carboxylesterase/lipase family 9606.ENSP00000370503 CCM2 465 Cerebral cavernous malformations 2 protein; Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3- dependent p38 activation induced by hyperosmotic shock (By similarity) 9606.ENSP00000370508 MTIF3 278 Translation initiation factor IF-3, mitochondrial; IF-3 binds to the 28S ribosomal subunit and shifts the equilibrum between 55S ribosomes and their 39S and 28S subunits in favor of the free subunits, thus enhancing the availability of 28S subunits on which protein synthesis initiation begins 9606.ENSP00000370517 PFKP 784 ATP-dependent 6-phosphofructokinase, platelet type; Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis; Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily 9606.ENSP00000370519 ARSF 590 Arylsulfatase F; Sulfatases 9606.ENSP00000370521 AIPL1 384 Aryl-hydrocarbon-interacting protein-like 1; May be important in protein trafficking and/or protein folding and stabilization; FKBP prolyl isomerases 9606.ENSP00000370522 ARSH 562 Arylsulfatase family member H; Sulfatases 9606.ENSP00000370527 RCAN1 277 Calcipressin-1; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development; Belongs to the RCAN family 9606.ENSP00000370531 ACOT6 207 acyl-CoA thioesterase 6 9606.ENSP00000370532 GTF3A 365 Transcription factor IIIA; Involved in ribosomal large subunit biogenesis. Binds the approximately 50 base pairs internal control region (ICR) of 5S ribosomal RNA genes. It is required for their RNA polymerase III-dependent transcription and may also maintain the transcription of other genes. Also binds the transcribed 5S RNA's (By similarity); General transcription factors 9606.ENSP00000370542 SDC1 310 Syndecan-1; Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP 9606.ENSP00000370543 SLC5A3 718 Sodium/myo-inositol cotransporter; Prevents intracellular accumulation of high concentrations of myo-inositol (an osmolyte) that result in impairment of cellular function; Solute carriers 9606.ENSP00000370546 ARSD 593 Arylsulfatase D; Sulfatases 9606.ENSP00000370555 GYG2 501 Glycogenin-2; Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase; Glycosyltransferase family 8 9606.ENSP00000370568 KIAA1644 199 Uncharacterized protein KIAA1644; KIAA1644 9606.ENSP00000370571 TH 528 Tyrosine 3-monooxygenase; Plays an important role in the physiology of adrenergic neurons; Belongs to the biopterin-dependent aromatic amino acid hydroxylase family 9606.ENSP00000370588 CD99 185 CD99 antigen; Involved in T-cell adhesion processes and in spontaneous rosette formation with erythrocytes. Plays a role in a late step of leukocyte extravasation helping leukocytes to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1. Involved in T-cell adhesion processes (By similarity); Blood group antigens 9606.ENSP00000370589 NOP56 594 Nucleolar protein 56; Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs; Belongs to the NOP5/NOP56 family 9606.ENSP00000370593 PTPRD 1912 Receptor-type tyrosine-protein phosphatase delta; Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2; Belongs to the protein-tyrosine phosphatase family. Receptor class 2A subfamily 9606.ENSP00000370596 MIER3 550 Mesoderm induction early response protein 3; Transcriptional repressor; Myb/SANT domain containing 9606.ENSP00000370607 TECRL 363 trans-2,3-enoyl-CoA reductase like 9606.ENSP00000370621 ZBED1 694 Zinc finger BED domain-containing protein 1; Binds to 5'-TGTCG[CT]GA[CT]A-3' DNA elements found in the promoter regions of a number of genes related to cell proliferation. Binds to the histone H1 promoter and stimulates transcription. Was first identified as gene weakly similar to Ac transposable elements, but does not code for any transposase activity 9606.ENSP00000370625 POLR2B 1174 DNA-directed RNA polymerase II subunit RPB2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB2 is [...] 9606.ENSP00000370639 ASMT 373 Acetylserotonin O-methyltransferase; Isoform 1 catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5- methoxytryptamine). Isoform 2 and isoform 3 lack enzyme activity; Pseudoautosomal region 1 9606.ENSP00000370648 RDH14 336 Retinol dehydrogenase 14; Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity detected; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000370669 SLC8A3 927 Sodium/calcium exchanger 3; Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis in excitable cells, both in muscle and in brain. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A3 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels r [...] 9606.ENSP00000370671 KLHL42 505 Kelch-like protein 42; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis; Kelch like 9606.ENSP00000370673 MANSC4 340 MANSC domain containing 4 9606.ENSP00000370695 EXOC1 894 Exocyst complex component 1; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane 9606.ENSP00000370697 P2RY8 359 P2Y purinoceptor 8; Probable receptor for purines coupled to G-proteins; G protein-coupled receptors, Class A orphans 9606.ENSP00000370698 IL6ST 918 Interleukin-6 receptor subunit beta; Signal-transducing molecule. The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activates Janus kinases. That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3. Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Does not bind IL6 [...] 9606.ENSP00000370710 JMJD2C 1056 Lysine-specific demethylase 4C; Histone demethylase that specifically demethylates 'Lys- 9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate 9606.ENSP00000370713 ADARB2 739 Double-stranded RNA-specific editase B2; Lacks editing activity. It prevents the binding of other ADAR enzymes to targets in vitro, and decreases the efficiency of these enzymes. Capable of binding to dsRNA but also to ssRNA; Adenosine deaminases acting on RNA 9606.ENSP00000370718 ASMTL 621 N-acetylserotonin O-methyltransferase-like protein; Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity; In the N-terminal section; belongs to the maf family 9606.ENSP00000370719 ITSN1 1721 Intersectin-1; Acts as guanine nucleotide exchange factor (GEF) specific for the CDC42 GTPase (By similarity). Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR may involve association with DAB2. Isoform 1 could be involved in brain-specific synaptic vesicle recycling. Inhibits ARHGAP31 activity toward RAC1; C2 domain co [...] 9606.ENSP00000370724 FAM49A 323 Protein FAM49A; Family with sequence similarity 49 member A; Belongs to the FAM49 family 9606.ENSP00000370736 TMEM165 324 Transmembrane protein 165; May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation 9606.ENSP00000370737 GLDC 1020 Glycine dehydrogenase (decarboxylating), mitochondrial; The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH) 9606.ENSP00000370741 THUMPD1 353 THUMP domain-containing protein 1; Functions as a tRNA-binding adapter to mediate NAT10- dependent tRNA acetylation 9606.ENSP00000370744 ITPR2 2701 Inositol 1,4,5-trisphosphate receptor type 2; Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity); Cilia and flagella associated 9606.ENSP00000370745 DDX1 740 ATP-dependent RNA helicase DDX1; Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expressi [...] 9606.ENSP00000370748 IDI1 284 Isopentenyl-diphosphate Delta-isomerase 1; Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP) 9606.ENSP00000370750 RDH11 318 Retinol dehydrogenase 11; Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected 9606.ENSP00000370761 LYRM5 90 Electron transfer flavoprotein regulatory factor 1; Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB) 9606.ENSP00000370767 GP2 537 Pancreatic secretory granule membrane major glycoprotein GP2; Glycoprotein 2 9606.ENSP00000370770 C17orf107 190 Uncharacterized protein C17orf107; Chromosome 17 open reading frame 107 9606.ENSP00000370781 CDC20B 519 Cell division cycle protein 20 homolog B; WD repeat domain containing; Belongs to the WD repeat CDC20/Fizzy family 9606.ENSP00000370800 MBD3L2 208 methyl-CpG binding domain protein 3 like 2; Belongs to the MBD3L family 9606.ENSP00000370801 MBD3L4 208 methyl-CpG binding domain protein 3 like 4 9606.ENSP00000370803 CCP110 1012 Centriolar coiled-coil protein of 110 kDa; Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation. Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and geno [...] 9606.ENSP00000370808 SLC25A6 298 ADP/ATP translocase 3; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000370812 ESM1 184 Endothelial cell-specific molecule 1; Involved in angiogenesis; promotes angiogenic sprouting. May have potent implications in lung endothelial cell-leukocyte interactions 9606.ENSP00000370826 HR 1189 Lysine-specific demethylase hairless; Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle 9606.ENSP00000370839 SGCB 318 Beta-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix 9606.ENSP00000370842 IL33 270 Interleukin-33; Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells. Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as a chemoattractant for Th2 cells, and may function as an "alarmin", that amplifies immune responses during tissue injury; Interleukins 9606.ENSP00000370849 ITPRIPL2 535 Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2; ITPRIP like 2 9606.ENSP00000370867 TGM3 693 Protein-glutamine gamma-glutamyltransferase E; Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the g [...] 9606.ENSP00000370882 OCIAD1 245 OCIA domain-containing protein 1; Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity). Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer; Belongs to the OCIAD1 family 9606.ENSP00000370886 MLANA 118 Melanoma antigen recognized by T-cells 1; Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes 9606.ENSP00000370889 DENND1C 801 DENN domain-containing protein 1C; Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form; DENN/MADD domain containing 9606.ENSP00000370891 STK35 534 Serine/threonine kinase 35; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000370896 GREB1 1949 Protein GREB1; May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers 9606.ENSP00000370908 PKD1P1 369 Protein LOC101930008 9606.ENSP00000370912 TEC 631 Tyrosine-protein kinase Tec; Non-receptor tyrosine kinase that contributes to signaling from many receptors and participates as a signal transducer in multiple downstream pathways, including regulation of the actin cytoskeleton. Plays a redundant role to ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. Required for TCR-dependent IL2 gene induction. Phosphorylates DOK1, one CD28-specific substrate, and contributes to CD28-signaling. Mediates signals that negatively regulate I [...] 9606.ENSP00000370936 E2F6 281 Transcription factor E2F6; Inhibitor of E2F-dependent transcription. Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3'. Has a preference for the 5'-TTTCCCGC-3' E2F recognition site. E2F6 lacks the transcriptional activation and pocket protein binding domains. Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression. May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexp [...] 9606.ENSP00000370938 CDK8 464 Cyclin-dependent kinase 8; Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C-terminal domain) of the lar [...] 9606.ENSP00000370950 NPSR1 390 Neuropeptide S receptor; G-protein coupled receptor for neuropeptide S (NPS). Promotes mobilization of intracellular Ca(2+) stores. Inhibits cell growth in response to NPS binding. Involved in pathogenesis of asthma and other IgE-mediated diseases 9606.ENSP00000370962 GGT6 499 Glutathione hydrolase 6; Cleaves glutathione conjugates; Gamma-glutamyltransferases 9606.ENSP00000370966 CRYZL1 349 Quinone oxidoreductase-like protein 1; Crystallin zeta like 1; Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily 9606.ENSP00000370968 MYBBP1A 1332 Myb-binding protein 1A; May activate or repress transcription via interactions with sequence specific DNA-binding proteins. Repression may be mediated at least in part by histone deacetylase activity (HDAC activity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2. Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter; Armadillo-like helical domain containing 9606.ENSP00000370981 LZTS1 596 Leucine zipper putative tumor suppressor 1; Involved in the regulation of cell growth. May stabilize the active CDC2-cyclin B1 complex and thereby contribute to the regulation of the cell cycle and the prevention of uncontrolled cell proliferation. May act as a tumor suppressor; Leucine zipper tumor suppressor family 9606.ENSP00000370984 COMMD8 183 COMM domain-containing protein 8; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B 9606.ENSP00000370989 CD274 290 Programmed cell death 1 ligand 1; Involved in the costimulatory signal, essential for T- cell proliferation and production of IL10 and IFNG, in an IL2- dependent and a PDCD1-independent manner. Interaction with PDCD1 inhibits T-cell proliferation and cytokine production; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000370990 SHOX 292 Short stature homeobox protein; Controls fundamental aspects of growth and development; Belongs to the paired homeobox family. Bicoid subfamily 9606.ENSP00000370997 C2orf50 162 Uncharacterized protein C2orf50; Chromosome 2 open reading frame 50 9606.ENSP00000371000 RNF6 685 E3 ubiquitin-protein ligase RNF6; E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates 'Lys-6' and 'Lys-27'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator; Ring finger proteins 9606.ENSP00000371018 SIRPB1 398 Signal-regulatory protein beta-1; Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Participates also in the recruitment of tyrosine kinase SYK; C1-set domain containing 9606.ENSP00000371036 SIRPD 197 Signal regulatory protein delta 9606.ENSP00000371037 CATSPERD 798 Cation channel sperm-associated protein subunit delta; Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane; Cation channels sperm associated 9606.ENSP00000371040 RLN2 185 Prorelaxin H2; Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix; Endogenous ligands 9606.ENSP00000371051 ZZEF1 2961 Zinc finger ZZ-type and EF-hand domain containing 1 9606.ENSP00000371054 INSL6 213 Insulin-like peptide INSL6; May have a role in sperm development and fertilization 9606.ENSP00000371061 C5orf51 294 UPF0600 protein C5orf51; Chromosome 5 open reading frame 51; Belongs to the UPF0600 family 9606.ENSP00000371067 JAK2 1132 Tyrosine-protein kinase JAK2; Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. Mediates essential signaling events in both innate and adaptive immunity. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors such as growth hormone (GHR), prolactin (PRLR), leptin (LEPR), erythropoietin (EPOR), thrombopoietin (THPO); or type II receptors including IFN-alpha, IFN-beta, IFN-gamma and multiple interleukins. Following ligand-binding to cell surface receptors, [...] 9606.ENSP00000371070 ATP8A2 1188 Phospholipid-transporting ATPase IB; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). [...] 9606.ENSP00000371073 PLCXD1 323 PI-PLC X domain-containing protein 1; Phosphatidylinositol specific phospholipase C X domain containing 1; Pseudoautosomal region 1 9606.ENSP00000371084 ATP8A1 1164 Phospholipid-transporting ATPase IA; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in r [...] 9606.ENSP00000371085 BAIAP2L2 529 Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2; Phosphoinositides-binding protein that induces the formation of planar or gently curved membrane structures. Binds to phosphoinositides, including to phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2) headgroups. There seems to be no clear preference for a specific phosphoinositide (By similarity); I-BAR domain containing 9606.ENSP00000371101 NOL10 688 Nucleolar protein 10; WD repeat domain containing; Belongs to the WD repeat NOL10/ENP2 family 9606.ENSP00000371110 GCAT 445 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial; Glycine C-acetyltransferase; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000371117 GAGE12E 117 G antigen 12E 9606.ENSP00000371126 NUTM2A 878 NUT family member 2A 9606.ENSP00000371133 HMG20A 347 High mobility group protein 20A; Plays a role in neuronal differentiation as chromatin- associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4 (By similarity); Non-canonical high mobility group 9606.ENSP00000371141 GAGE12H 117 G antigen 12H 9606.ENSP00000371152 ASAH1 411 Acid ceramidase; Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid 9606.ENSP00000371155 NUPL1 599 Nucleoporin p58/p45; Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane; Belongs to the NUP58 family 9606.ENSP00000371169 RCL1 373 RNA 3'-terminal phosphate cyclase-like protein; Does not have cyclase activity. Plays a role in 40S- ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA (By similarity) 9606.ENSP00000371180 CATSPER2 534 Cation channel sperm-associated protein 2; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte; Belongs to the cation channel sperm-associated (TC 1.A.1.19) family 9606.ENSP00000371193 CPPED1 314 Serine/threonine-protein phosphatase CPPED1; Protein phosphatase that dephosphorylates AKT family kinase specifically at 'Ser-473', blocking cell cycle progression and promoting cell apoptosis. May play an inhibitory role in glucose uptake by adipocytes; Belongs to the metallophosphoesterase superfamily. CPPED1 family 9606.ENSP00000371194 LSP1 467 Lymphocyte-specific protein 1; May play a role in mediating neutrophil activation and chemotaxis 9606.ENSP00000371200 ARRDC5 342 Arrestin domain containing 5; Belongs to the arrestin family 9606.ENSP00000371201 NSUN7 718 Putative methyltransferase NSUN7; May have S-adenosyl-L-methionine-dependent methyl- transferase activity; NOP2/Sun RNA methyltransferase family 9606.ENSP00000371211 TMPRSS6 824 Transmembrane protease serine 6; Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HFE2, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis 9606.ENSP00000371212 RBM47 593 RNA-binding protein 47; RNA binding motif containing; Belongs to the RRM RBM47 family 9606.ENSP00000371219 RHOH 191 Rho-related GTP-binding protein RhoH; Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signaling. Crucial for thymocyte maturat [...] 9606.ENSP00000371221 MTMR6 621 Myotubularin-related protein 6; Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells; Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily 9606.ENSP00000371230 AK3 227 GTP:AMP phosphotransferase AK3, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities; Belongs to the adenylate kinase family. AK3 subfamily 9606.ENSP00000371233 SDCBP2 292 Syntenin-2; Binds phosphatidylinositol 4,5-bisphosphate (PIP2). May play a role in the organization of nuclear PIP2, cell division and cell survival; PDZ domain containing 9606.ENSP00000371234 CYS1 158 Cystin-1; Cystin 1 9606.ENSP00000371253 GART 1010 Trifunctional purine biosynthetic protein adenosine-3; Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase; In the central section; belongs to the AIR synthase family 9606.ENSP00000371267 YWHAQ 245 14-3-3 protein theta; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1; Belongs to the 14-3-3 family 9606.ENSP00000371272 PLIN5 463 Perilipin-5; Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet homeostasis by regulating both the storage of fatty acids in the form of triglycerides and the release of fatty acids for mitochondrial fatty acid oxidation. In lipid droplet triacylglycerol hydrolysis, plays a role as a scaffolding protein for three major key lipolytic players: ABHD5, PNPLA2 and LIPE. Reduces the triacylglycerol hyd [...] 9606.ENSP00000371278 CDC37L1 337 Hsp90 co-chaperone Cdc37-like 1; Co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90 9606.ENSP00000371294 CTNS 400 Cystinosin; Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR; Belongs to the cystinosin family 9606.ENSP00000371297 SNPH 494 Syntaphilin; Inhibits SNARE complex formation by absorbing free syntaxin-1 9606.ENSP00000371307 PPAPDC2 295 Phospholipid phosphatase 6; Phosphatase that dephosphorylates presqualene diphosphate (PSDP) into presqualene monophosphate (PSMP), suggesting that it may be indirectly involved in innate immunity. PSDP is a bioactive lipid that rapidly remodels to presqualene monophosphate PSMP upon cell activation. Displays diphosphate phosphatase activity with a substrate preference for PSDP > FDP > phosphatidic acid 9606.ENSP00000371308 CENPJ 1338 Centromere protein J; Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles. Required for centriole elongation and for STIL- mediated centriole amplification. May be involved in the control of centriolar-microtubule growth by act [...] 9606.ENSP00000371318 TMEM74B 256 Transmembrane protein 74B 9606.ENSP00000371321 RFC1 1148 Replication factor C subunit 1; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins PCNA and activator 1. This subunit binds to the primer-template junction. Binds the PO-B transcription element as well as other GA rich DNA sequences. Could play a role in DNA transcription regulation as well as DNA replication and/or repair. Can bind single- or double-stranded DNA; AAA ATPases 9606.ENSP00000371327 KLRC2 231 NKG2-C type II integral membrane protein; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells; C-type lectin domain containing 9606.ENSP00000371328 KLRC3 257 Killer cell lectin-like receptor subfamily C, member 3; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells; C-type lectin domain containing 9606.ENSP00000371331 TNNI2 182 Troponin I, fast skeletal muscle; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity 9606.ENSP00000371333 KLRD1 179 Natural killer cells antigen CD94; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells; C-type lectin domain containing 9606.ENSP00000371341 TNK2 1086 Activated CDC42 kinase 1; Non-receptor tyrosine-protein and serine/threonine- protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation. Transduces extracellular signals to cytosolic and nuclear effectors. Phosphorylates AKT1, AR, MCF2, WASL and WWOX. Implicated in trafficking and clathrin-mediated endocytosis through binding to epidermal growth factor receptor (EGFR) and clathrin. Binds to both poly- and mono-ubiquitin and regulates ligand-induced degradation of EGFR, thereby contributing to the accumulation of EGFR at the limiting [...] 9606.ENSP00000371345 METTL22 404 Methyltransferase-like protein 22; Protein N-lysine methyltransferase. In vitro methylates KIN; Belongs to the methyltransferase superfamily. METTL22 family 9606.ENSP00000371347 ANGPT4 503 Angiopoietin-4; Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis; Fibrinogen C domain containing 9606.ENSP00000371348 TMEM52B 183 Transmembrane protein 52B 9606.ENSP00000371362 NADK2 442 NAD kinase 2, mitochondrial; Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo 9606.ENSP00000371364 TMEM156 296 Transmembrane protein 156 9606.ENSP00000371377 OR1A2 309 Olfactory receptor 1A2; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000371388 SRXN1 137 Sulfiredoxin-1; Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase; Belongs to the sulfiredoxin family 9606.ENSP00000371393 PGM2 612 Phosphoglucomutase-2; Catalyzes the conversion of the nucleoside breakdown products ribose-1-phosphate and deoxyribose-1-phosphate to the corresponding 5-phosphopentoses. May also catalyze the interconversion of glucose-1-phosphate and glucose-6-phosphate. Has low glucose 1,6-bisphosphate synthase activity; Belongs to the phosphohexose mutase family 9606.ENSP00000371394 SYT8 401 Synaptotagmin-8; Isoform 4 may play a role in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells (By similarity); Belongs to the synaptotagmin family 9606.ENSP00000371397 FAM43A 423 Protein FAM43A; Family with sequence similarity 43 member A; Belongs to the FAM43 family 9606.ENSP00000371398 GLIS3 930 Zinc finger protein GLIS3; Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity); Zinc fingers C2H2-type 9606.ENSP00000371419 PARP4 1724 poly(ADP-ribose) polymerase family member 4 9606.ENSP00000371420 GPNMB 572 Transmembrane glycoprotein NMB; Could be a melanogenic enzyme; Belongs to the PMEL/NMB family 9606.ENSP00000371434 RFX3 749 Transcription factor RFX3; Transcription factor required for ciliogenesis and islet cell differentiation during endocrine pancreas development. Essential for the differentiation of nodal monocilia and left- right asymmetry specification during embryogenesis. Required for the biogenesis of motile cilia by governing growth and beating efficiency of motile cells. Also required for ciliated ependymal cell differentiation. Regulates the expression of genes involved in ciliary assembly (DYNC2LI1, FOXJ1 and BBS4) and genes involved in ciliary motility (DNAH11, DNAH9 and DNAH5) (By similarity) [...] 9606.ENSP00000371451 DNAJC21 576 DnaJ homolog subfamily C member 21; May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA; DNAJ heat shock proteins 9606.ENSP00000371469 RAD1 282 Cell cycle checkpoint protein RAD1; Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavag [...] 9606.ENSP00000371471 RSAD2 361 Radical S-adenosyl methionine domain-containing protein 2; Interferon-inducible iron-sulfur (4FE-4S) cluster- binding antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon. Can inhibit a wide range of DNA and RNA viruses, including human cytomegalovirus (HCMV), hepatitis C virus (HCV), west Nile virus (WNV), dengue virus, sindbis virus, influenza A virus, sendai virus, vesicular stomatitis virus (VSV), and human immunodeficiency virus (HIV-1). Displays antiviral activity against influenza A virus by inhibiting the budding of the [...] 9606.ENSP00000371472 NIN 2090 Ninein; Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation. Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules. Required for centriole organization and microtubule anchoring at the mother centriole; EF-hand domain containing 9606.ENSP00000371475 TP53BP1 1977 TP53-binding protein 1; Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs si [...] 9606.ENSP00000371483 SLC34A2 690 Sodium-dependent phosphate transport protein 2B; May be involved in actively transporting phosphate into cells via Na(+) cotransport. It may be the main phosphate transport protein in the intestinal brush border membrane. May have a role in the synthesis of surfactant in lungs' alveoli; Belongs to the SLC34A transporter family 9606.ENSP00000371497 C1QTNF3 319 Complement C1q tumor necrosis factor-related protein 3; C1q and TNF related 3 9606.ENSP00000371503 C1QTNF9 333 Complement C1q and tumor necrosis factor-related protein 9A; Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways (By similarity); C1q and TNF related 9606.ENSP00000371505 CLEC6A 209 C-type lectin domain family 6 member A; Binds high-mannose carbohydrates in a Ca(2+)-dependent manner. Functional receptor for alpha-mannans on C.albicans hypheas. Plays an important role in the host defense against C.albicans infection by inducing TH17 cell differentiation. Recognizes also, in a mannose-dependent manner, allergens from house dust mite and fungi, by promoting cysteinyl leukotriene production. Recognizes soluble elements from the eggs of Shistosoma mansoni altering adaptive immune responses. Transduces signals through an Fc receptor gamma chain /FCER1G and Syk-CARD9- NF [...] 9606.ENSP00000371512 SGCZ 312 Zeta-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. May play a role in the maintenance of striated muscle membrane stability (By similarity) 9606.ENSP00000371514 KCNV2 545 Potassium voltage-gated channel subfamily V member 2; Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values; Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily 9606.ENSP00000371517 AMACR 394 Alpha-methylacyl-CoA racemase; Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers; Belongs to the CaiB/BaiF CoA-transferase family 9606.ENSP00000371529 C22orf42 251 Uncharacterized protein C22orf42; Chromosome 22 open reading frame 42 9606.ENSP00000371532 VLDLR 873 Very low-density lipoprotein receptor; Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity); Low density lipoprotein receptors 9606.ENSP00000371535 SEPSECS 501 O-phosphoseryl-tRNA(Sec) selenium transferase; Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl- tRNA(Sec) required for selenoprotein biosynthesis 9606.ENSP00000371548 LGI2 545 Leucine rich repeat LGI family member 2 9606.ENSP00000371553 NANOGNB 188 NANOG neighbor homeobox 9606.ENSP00000371554 SOD3 240 Extracellular superoxide dismutase [Cu-Zn]; Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen 9606.ENSP00000371559 TSSC1 387 EARP-interacting protein; Tumor suppressing subtransferable candidate 1 9606.ENSP00000371572 C1QTNF9B 333 Complement C1q and tumor necrosis factor-related protein 9B; C1q and TNF related 9B 9606.ENSP00000371577 MTMR12 747 Myotubularin-related protein 12; Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location; Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily 9606.ENSP00000371586 PISD 375 Phosphatidylserine decarboxylase proenzyme, mitochondrial; Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine; Belongs to the phosphatidylserine decarboxylase family. PSD-B subfamily. Eukaryotic type I sub-subfamily 9606.ENSP00000371587 KCNIP4 250 Kv channel-interacting protein 4; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. Modulates KCND3/Kv4.3 currents. Isoform 4 does not increase KCND2 expression at the cell membrane. Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane; Belongs to the recoverin family 9606.ENSP00000371594 GNG7 68 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. Plays a role in the regulation of adenylyl cyclase signaling in certain regions of the brain. Plays a role in the formation or stabilzation of a G protein heterotrimer (G(olf) subunit alpha-beta-gamma-7) that is required for adenylyl cyclase activity in [...] 9606.ENSP00000371595 KRTAP5-6 129 Keratin-associated protein 5-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family 9606.ENSP00000371606 KRTAP5-1 278 Keratin-associated protein 5-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family 9606.ENSP00000371607 MIPEP 713 Mitochondrial intermediate peptidase; Cleaves proteins, imported into the mitochondrion, to their mature size; M3 metallopeptidases 9606.ENSP00000371614 BRSK2 766 Serine/threonine-protein kinase BRSK2; Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion. Phosphorylates CDK16, CDC25C, MAPT/TAU, PAK1 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at 'Thr-529' and 'Ser-579'. Also regulates neuron polarization by mediating phosphorylation of WEE1 at 'Ser-642' in postmitotic neurons, leading to d [...] 9606.ENSP00000371634 IGF2BP2 599 Insulin-like growth factor 2 mRNA-binding protein 2; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs. Binding is isoform-specific. Binds to beta- actin/ACTB and MYC transcripts; Belongs to the [...] 9606.ENSP00000371643 DEFB135 77 Beta-defensin 135; Has antibacterial activity; Defensins, beta 9606.ENSP00000371644 DEFB136 78 Beta-defensin 136; Has antibacterial activity; Defensins, beta 9606.ENSP00000371661 LCORL 602 Ligand-dependent nuclear receptor corepressor-like protein; May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3'. May play a role in spermatogenesis (By similarity) 9606.ENSP00000371682 DCAF16 216 DDB1- and CUL4-associated factor 16; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000371686 DMRT2 561 Doublesex- and mab-3-related transcription factor 2; Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity) 9606.ENSP00000371689 CDH12 794 Cadherin-12; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000371693 TNFRSF19 423 Tumor necrosis factor receptor superfamily member 19; Can mediate activation of JNK and NF-kappa-B. May promote caspase-independent cell death; Tumor necrosis factor receptor superfamily 9606.ENSP00000371711 DMRT1 373 Doublesex- and mab-3-related transcription factor 1; Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and prom [...] 9606.ENSP00000371715 ZG16B 208 Zymogen granule protein 16B; Belongs to the jacalin lectin family 9606.ENSP00000371728 NRSN2 204 Neurensin-2; May play a role in maintenance and/or transport of vesicles 9606.ENSP00000371735 SACS 4579 Sacsin; Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins; DNAJ heat shock proteins 9606.ENSP00000371770 FGFBP1 234 Fibroblast growth factor-binding protein 1; Acts as a carrier protein that release fibroblast- binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth 9606.ENSP00000371785 OLIG1 271 Oligodendrocyte transcription factor 1; Promotes formation and maturation of oligodendrocytes, especially within the brain. Cooperates with OLIG2 to establish the pMN domain of the embryonic neural tube (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000371786 ONECUT3 494 One cut domain family member 3; Transcriptional activator. Binds the consensus DNA sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR (By similarity); CUT class homeoboxes and pseudogenes 9606.ENSP00000371790 FGF9 208 Fibroblast growth factor 9; Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors; Belongs to the heparin-binding growth factors family 9606.ENSP00000371798 FSCN1 493 Fascin; Organizes filamentous actin into bundles with a minimum of 4.1:1 actin/fascin ratio. Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers. Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration; Fascins 9606.ENSP00000371800 RNF215 377 Ring finger protein 215 9606.ENSP00000371805 FBXL18 718 F-box/LRR-repeat protein 18; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and leucine rich repeat proteins 9606.ENSP00000371811 MICU2 434 Calcium uptake protein 2, mitochondrial; Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low. MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium. MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering 9606.ENSP00000371813 DEFB132 95 Beta-defensin 132; Has antibacterial activity; Defensins, beta 9606.ENSP00000371824 C9orf66 295 Uncharacterized protein C9orf66; Chromosome 9 open reading frame 66 9606.ENSP00000371825 DEFB127 99 Beta-defensin 127; Has antibacterial activity; Defensins, beta 9606.ENSP00000371835 DEFB126 111 Beta-defensin 126; Highly glycosylated atypical beta-defensin involved in several aspects of sperm function. Facilitates sperm transport in the female reproductive tract and contributes to sperm protection against immunodetection; both functions are probably implicating the negative surface charge provided by its O-linked oligosaccharides in the sperm glycocalyx. Involved in binding of sperm to oviductal epithelial cells to form a sperm reservoir until ovulation. Release from the sperm surface during capacitation and ovaluation by an elevation of oviductal fluid pH is unmasking other s [...] 9606.ENSP00000371846 DEAF1 565 Deformed epidermal autoregulatory factor 1 homolog; Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'- AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein- protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patternin [...] 9606.ENSP00000371847 DEFB125 156 Beta-defensin 125; Has antibacterial activity; Defensins, beta 9606.ENSP00000371858 NOP2 845 Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase; Involved in ribosomal large subunit assembly. S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (Probable). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (Probable); Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family 9606.ENSP00000371872 SLC35G5 338 Solute carrier family 35 member G5 9606.ENSP00000371875 NKX3-2 333 Homeobox protein Nkx-3.2; Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity); Belongs to the NK-3 homeobox family 9606.ENSP00000371886 ENSG00000168970 1012 JMJD7-PLA2G4B readthrough 9606.ENSP00000371897 ARHGAP5 1502 Rho GTPase-activating protein 5; GTPase-activating protein for Rho family members. May play a role in the reduction of the p21rasGTPase-activating potential of RASA1/p120GAP 9606.ENSP00000371905 ZDHHC20 354 Probable palmitoyltransferase ZDHHC20; Zinc finger DHHC-type containing 20; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000371923 RP1L1 2400 Retinitis pigmentosa 1-like 1 protein; Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity); Doublecortin superfamily 9606.ENSP00000371927 GPR78 363 G-protein coupled receptor 78; Orphan receptor. Displays a significant level of constitutive activity. Its effect is mediated by G(s)-alpha protein that stimulate adenylate cyclase, resulting in an elevation of intracellular cAMP; G protein-coupled receptors, Class A orphans 9606.ENSP00000371929 HTR3D 454 5-hydroxytryptamine receptor 3D; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3D sub-subfamily 9606.ENSP00000371932 TAS2R1 299 Taste receptor type 2 member 1; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000371936 SEMA5A 1074 Semaphorin-5A; Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. May promote angiogenesis [...] 9606.ENSP00000371940 FOXD4 439 Forkhead box D4 9606.ENSP00000371958 CD9 228 CD9 antigen; Involved in platelet activation and aggregation. Regulates paranodal junction formation. Involved in cell adhesion, cell motility and tumor metastasis. Required for sperm-egg fusion; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000371985 KCNA1 495 Potassium voltage-gated channel subfamily A member 1; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney. Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability. Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference acro [...] 9606.ENSP00000371994 NYNRIN 1898 Protein NYNRIN; NYN domain and retroviral integrase containing 9606.ENSP00000372005 DNAJC19 116 Mitochondrial import inner membrane translocase subunit TIM14; Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity); Belongs to the TIM14 family 9606.ENSP00000372023 CHEK2 586 Serine/threonine-protein kinase Chk2; Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X- R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads [...] 9606.ENSP00000372035 LATS2 1088 Serine/threonine-protein kinase LATS2; Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus [...] 9606.ENSP00000372056 IRX2 471 Iroquois-class homeodomain protein IRX-2; TALE class homeoboxes and pseudogenes 9606.ENSP00000372059 IFITM5 132 Interferon-induced transmembrane protein 5; Required for normal bone mineralization; Belongs to the CD225/Dispanin family 9606.ENSP00000372067 PRMT8 394 Protein arginine N-methyltransferase 8; Membrane-associated arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA). Able to mono- and dimethylate EWS protein; however its precise role toward EWS remains unclear as it still interacts with fully methylated EWS 9606.ENSP00000372088 RAD51 340 DNA repair protein RAD51 homolog 1; Fanconi anemia complementation groups 9606.ENSP00000372112 FAHD1 248 Acylpyruvase FAHD1, mitochondrial; Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro. Also has oxaloacetate decarboxylase activity 9606.ENSP00000372136 DEFA1B 94 Defensin, alpha 1B; Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram- negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane; Defensins, alpha 9606.ENSP00000372139 DEFA1 94 Neutrophil defensin 1; Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram- negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane; Defensins, alpha 9606.ENSP00000372155 PSME1 250 Proteasome activator complex subunit 1; Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome 9606.ENSP00000372160 DOK6 331 Docking protein 6; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK6 promotes Ret- mediated neurite growth. May have a role in brain development and/or maintenance 9606.ENSP00000372169 CACNA2D4 1137 Voltage-dependent calcium channel subunit alpha-2/delta-4; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel; Calcium voltage-gated channel auxiliary alpha2delta subunits 9606.ENSP00000372170 MSX1 303 Homeobox protein MSX-1; Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity; Belongs to the Msh homeobox family 9606.ENSP00000372191 SIRT3 399 NAD-dependent protein deacetylase sirtuin-3, mitochondrial; NAD-dependent protein deacetylase. Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues. Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5O. Contributes to the regulation of the cellular energy metabolism. Important for regulating tissue-specific ATP levels; Sirtuins 9606.ENSP00000372193 CLCN7 805 H(+)/Cl(-) exchange transporter 7; Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen 9606.ENSP00000372199 URB1 2271 Nucleolar pre-ribosomal-associated protein 1; Armadillo-like helical domain containing 9606.ENSP00000372201 TMEM128 165 Transmembrane protein 128 9606.ENSP00000372206 N6AMT2 214 EEF1A lysine methyltransferase 1; Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-79' 9606.ENSP00000372210 BET1L 111 BET1-like protein; Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity); SNAREs 9606.ENSP00000372221 SERPINB5 375 Serpin B5; Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity; Belongs to the serpin family. Ov-serpin subfamily 9606.ENSP00000372272 KRTAP19-8 63 Keratin-associated protein 19-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000372274 FBXO25 367 F-box only protein 25; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity); F-boxes other 9606.ENSP00000372276 KRTAP20-3 44 Keratin-associated protein 20-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000372278 KRTAP20-4 44 Putative keratin-associated protein 20-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000372281 KRTAP22-2 45 Keratin-associated protein 22-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000372286 KRTAP27-1 207 Keratin-associated protein 27-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000372295 GJB2 226 Gap junction beta-2 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Deafness associated genes 9606.ENSP00000372313 MSLN 630 Mesothelin; Membrane-anchored forms may play a role in cellular adhesion 9606.ENSP00000372326 FECH 429 Ferrochelatase, mitochondrial; Catalyzes the ferrous insertion into protoporphyrin IX; Belongs to the ferrochelatase family 9606.ENSP00000372335 NELFA 539 Negative elongation factor A; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structure-dependent manner. Probably required to interact with the RNA polymerase [...] 9606.ENSP00000372351 WHSC1 1365 Histone-lysine N-methyltransferase NSD2; Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment 9606.ENSP00000372361 ZMYM5 382 Zinc finger MYM-type protein 5; Functions as a transcriptional regulator; Zinc fingers MYM-type 9606.ENSP00000372390 SLC7A4 635 Cationic amino acid transporter 4; Involved in the transport of the cationic amino acids (arginine, lysine and ornithine); Solute carriers 9606.ENSP00000372394 TMEM129 362 E3 ubiquitin-protein ligase TM129; E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation 9606.ENSP00000372410 RNASE13 156 Probable inactive ribonuclease-like protein 13; Does not exhibit any ribonuclease activity 9606.ENSP00000372445 METTL17 478 Methyltransferase-like protein 17, mitochondrial; May be a component of the mitochondrial small ribosomal subunit; Belongs to the methyltransferase superfamily. Rsm22 family 9606.ENSP00000372459 CTIF 600 CBP80/20-dependent translation initiation factor; Specifically required for the pioneer round of mRNA translation mediated by the cap-binding complex (CBC), that takes place during or right after mRNA export via the nuclear pore complex (NPC). Acts via its interaction with the NCBP1/CBP80 component of the CBC complex and recruits the 40S small subunit of the ribosome via eIF3. In contrast, it is not involved in steady state translation, that takes place when the CBC complex is replaced by cytoplasmic cap-binding protein eIF4E. Also required for nonsense-mediated mRNA decay (NMD), the p [...] 9606.ENSP00000372482 SNRNP25 132 Small nuclear ribonucleoprotein U11/U12 subunit 25 9606.ENSP00000372576 CCDC178 867 Coiled-coil domain containing 178 9606.ENSP00000372612 SLC25A52 307 Solute carrier family 25 member 52 9606.ENSP00000372649 PRR23A 266 Proline-rich protein 23A; Proline rich 23A; Belongs to the PRR23 family 9606.ENSP00000372651 FOXL2NB 175 FOXL2 neighbor 9606.ENSP00000372654 AQP4 323 Aquaporin-4; Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system; Belongs to the MIP/aquaporin (TC 1.A.8) family 9606.ENSP00000372667 NME9 263 Thioredoxin domain-containing protein 6; NME/NM23 family member 9 9606.ENSP00000372689 STAG1 1258 Cohesin subunit SA-1; Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis; Armadillo-like helical domain containing 9606.ENSP00000372720 TMEM241 296 Transmembrane protein 241 9606.ENSP00000372724 LY6G5C 150 Lymphocyte antigen 6 complex locus protein G5c; May have a role in hematopoietic cell differentiation; LY6/PLAUR domain containing 9606.ENSP00000372750 CHRM5 532 Muscarinic acetylcholine receptor M5; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover; Cholinergic receptors muscarinic 9606.ENSP00000372804 RNMT 476 mRNA cap guanine-N7 methyltransferase; Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAM/FAM103A1 complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs. Binds RNA containing 5'-terminal GpppC 9606.ENSP00000372857 NEK11 645 Serine/threonine-protein kinase Nek11; Protein kinase which plays an important role in the G2/M checkpoint response to DNA damage. Controls degradation of CDC25A by directly phosphorylating it on residues whose phosphorylation is required for BTRC-mediated polyubiquitination and degradation 9606.ENSP00000372910 LY6G6E 125 Lymphocyte antigen 6 family member G6E; LY6/PLAUR domain containing 9606.ENSP00000372955 HMCES 354 Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein; Specifically binds 5-hydroxymethylcytosine (5hmC)- containing DNA in stem cells, suggesting that it acts as a specific reader of 5hmC in stem cells (By similarity). May act as a peptidase; experimental evidences are however required to confirm this prediction 9606.ENSP00000372959 LRRC30 301 Leucine-rich repeat-containing protein 30; Leucine rich repeat containing 30 9606.ENSP00000373047 OR12D2 307 Olfactory receptor 12D2; Odorant receptor; Olfactory receptors, family 12 9606.ENSP00000373066 TXNRD3 133 Thioredoxin reductase 3; Glutaredoxin domain containing 9606.ENSP00000373073 UROC1 736 Urocanate hydratase 1 9606.ENSP00000373136 OR2H2 312 Olfactory receptor 2H2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000373153 PTPLB 254 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2; Catalyzes the third of the four reactions of the long- chain fatty acids elongation cycle. This endoplasmic reticulum- bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precurs [...] 9606.ENSP00000373169 DRD3 400 D(3) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000373176 GTPBP8 284 GTP binding protein 8; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. EngB GTPase family 9606.ENSP00000373191 LNP1 178 Leukemia NUP98 fusion partner 1 9606.ENSP00000373193 OR5K1 308 Olfactory receptor 5K1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000373194 OR5K3 321 Olfactory receptor 5K3; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000373195 OR5H15 313 Olfactory receptor 5H15; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000373196 OR5H6 325 Olfactory receptor 5H6; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000373206 EOGT 527 EGF domain-specific O-linked N-acetylglucosamine transferase; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N- acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains; O-linked N-acetylglucosaminyltransferases 9606.ENSP00000373215 CADPS 1353 Calcium-dependent secretion activator 1; Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2-binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in [...] 9606.ENSP00000373244 CSPG5 566 Chondroitin sulfate proteoglycan 5; May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation 9606.ENSP00000373272 TRIM71 868 E3 ubiquitin-protein ligase TRIM71; E3 ubiquitin-protein ligase that cooperates with the microRNAs (miRNAs) machinery and promotes embryonic stem cells proliferation and maintenance (Probable). Binds to miRNAs and associates with AGO2, participating in post-transcriptional repression of transcripts such as CDKN1A (By similarity). In addition, participates in post-transcriptional mRNA repression in a miRNA independent mechanism. Facilitates the G1-S transition to promote rapid embryonic stem cell self-renewal by repressing CDKN1A expression. Required to maintain proliferation and preven [...] 9606.ENSP00000373274 ZNF860 632 Zinc finger protein 860; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000373277 RBMS3 437 RNA-binding motif, single-stranded-interacting protein 3; Binds poly(A) and poly(U) oligoribonucleotides; RNA binding motif containing 9606.ENSP00000373278 ZCWPW2 356 Zinc finger CW-type and PWWP domain containing 2 9606.ENSP00000373298 COLQ 455 Acetylcholinesterase collagenic tail peptide; Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina 9606.ENSP00000373301 SH3BP5 455 SH3 domain-binding protein 5; Inhibits the auto- and transphosphorylation activity of BTK. Plays a negative regulatory role in BTK-related cytoplasmic signaling in B-cells. May be involved in BCR-induced apoptotic cell death; Belongs to the SH3BP5 family 9606.ENSP00000373304 CCDC174 467 Coiled-coil domain-containing protein 174; Probably involved in neuronal development 9606.ENSP00000373312 SEC13 368 Protein SEC13 homolog; Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles; Belongs to the WD repeat SEC13 family 9606.ENSP00000373325 IL17RE 667 Interleukin-17 receptor E; Specific functional receptor for IL17C. May be signaling through the NF-kappa-B and MAPK pathways. May require TRAF3IP2 /ACT1 for signaling. May be a crucial regulator in innate immunity to bacterial pathogens. Isoform 2 and isoform 4 may be either cytoplasmic inactive or dominant active forms. Isoform 3 and isoform 5 may act as soluble decoy receptors 9606.ENSP00000373328 CIDEC 251 Cell death activator CIDE-3; Binds to lipid droplets and regulates their enlargement, thereby restricting lipolysis and favoring storage. At focal contact sites between lipid droplets, promotes directional net neutral lipid transfer from the smaller to larger lipid droplets. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1. May act as a CEBPB coactivator in the white adipose tissue to control the expression of a s [...] 9606.ENSP00000373331 RPUSD3 351 Mitochondrial mRNA pseudouridine synthase RPUSD3; Major enzyme responsible for the conversion of uridine to pseudouridine (PSI) at position 390 in mitochondrial COXI (MT- CO1) mRNA and at position 697-699 in mitochondrial COXIII (MT-CO3) mRNA, modulating the efficiency of mitochondrial protein synthesis without changes in transcript abundance or stability; Belongs to the pseudouridine synthase RluA family 9606.ENSP00000373340 BRPF1 1220 Peregrin; Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Preferentially mediates histone H3-K23 acetylation. Positively regulates the transcription of RUNX1 and RUNX2; Bromodomain containing 9606.ENSP00000373343 CPNE9 553 Copine-9; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes; Copines 9606.ENSP00000373347 SRGAP3 1099 SLIT-ROBO Rho GTPase-activating protein 3; GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signaling in neurons; F-BAR domain containing 9606.ENSP00000373354 SETMAR 684 Histone-lysine N-methyltransferase SETMAR; Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity. In parallel, has a histone methyltransfe [...] 9606.ENSP00000373360 FAM131A 366 Protein FAM131A; Family with sequence similarity 131 member A; Belongs to the FAM131 family 9606.ENSP00000373364 GOLM1 401 Golgi membrane protein 1; Unknown. Cellular response protein to viral infection; Belongs to the GOLM1/CASC4 family 9606.ENSP00000373370 FLG2 2391 Filaggrin-2; S100 fused type protein family; In the N-terminal section; belongs to the S-100 family 9606.ENSP00000373399 PIP5KL1 394 Phosphatidylinositol 4-phosphate 5-kinase-like protein 1; May act as a scaffold to localize and regulate type I PI(4)P 5-kinases to specific compartments within the cell, where they generate PI(4,5)P2 for actin nucleation, signaling and scaffold protein recruitment and conversion to PI(3,4,5)P3 9606.ENSP00000373404 MRPL2 305 Mitochondrial ribosomal protein L2; Belongs to the universal ribosomal protein uL2 family 9606.ENSP00000373413 UFSP1 142 Inactive Ufm1-specific protease 1; UFM1 specific peptidase 1; Belongs to the peptidase C78 family 9606.ENSP00000373420 RUFY2 641 RUN and FYVE domain containing 2; Zinc fingers FYVE-type 9606.ENSP00000373433 LAMB4 1761 Laminin subunit beta-4; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000373450 SPAG1 926 Sperm-associated antigen 1; May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity; Tetratricopeptide repeat domain containing 9606.ENSP00000373472 ADAMTS7 1686 A disintegrin and metalloproteinase with thrombospondin motifs 7; Metalloprotease that may play a role in the degradation of COMP; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000373474 METTL14 456 N6-adenosine-methyltransferase non-catalytic subunit; The METTL3-METTL14 heterodimer forms a N6- methyltransferase complex that methylates adenosine residues at the N(6) position of some mRNAs and regulates the circadian clock, differentiation of embryonic stem cells and cortical neurogenesis. In the heterodimer formed with METTL3, METTL14 constitutes the RNA-binding scaffold that recognizes the substrate rather than the catalytic core. N6- methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays a role in mRNA stability and processing. M6A act [...] 9606.ENSP00000373477 GPX3 226 Glutathione peroxidase 3; Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione; Selenoproteins 9606.ENSP00000373487 KRT18 430 Keratin, type I cytoskeletal 18; Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection; Keratins, type I 9606.ENSP00000373509 C11orf31 122 Selenoprotein H; May be involved in a redox-related process 9606.ENSP00000373518 NOX5 765 NADPH oxidase 5; Calcium-dependent NADPH oxidase that generates superoxide. Also functions as a calcium-dependent proton channel and may regulate redox-dependent processes in lymphocytes and spermatozoa. May play a role in cell growth and apoptosis. Isoform v2 and isoform v5 are involved in endothelial generation of reactive oxygen species (ROS), proliferation and angiogenesis and contribute to endothelial response to thrombin; EF-hand domain containing 9606.ENSP00000373539 STAB2 2551 Stabilin-2; Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Hyaluronan receptor that binds to and mediates endocytosis of hyaluronic acid (HA). Acts also, in different species, as a primary systemic scavenger receptor for heparin (Hep), chondroitin sulfate (CS), dermatan sulfate (DS), nonglycosaminoglycan (GAG), acetylated low-density lipoprotein (AcLDL), pro-collagen propeptides and advanced glycation end products (AGE). May serve to maintain tissue integrity by supporting extracellular matrix turnover or it may contribute to maintaining fluidity of bodily [...] 9606.ENSP00000373565 FAM83H 1179 Protein FAM83H; May play a major role in the structural organization and calcification of developing enamel. May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration 9606.ENSP00000373566 CCDC158 1113 Coiled-coil domain containing 158 9606.ENSP00000373570 TYRP1 537 5,6-dihydroxyindole-2-carboxylic acid oxidase; Catalyzes the oxidation of 5,6-dihydroxyindole-2- carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions. May regulate or influence the type of melanin synthesized. Also to a lower extent, capable of hydroxylating tyrosine and producing melanin (By similarity) 9606.ENSP00000373572 FOXI2 318 Forkhead box protein I2; Possible transcriptional activator; Forkhead boxes 9606.ENSP00000373574 ACVRL1 503 Serine/threonine-protein kinase receptor R3; Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily 9606.ENSP00000373575 C6orf163 329 Uncharacterized protein C6orf163; Chromosome 6 open reading frame 163 9606.ENSP00000373583 C9orf173 386 Protein STPG3; Chromosome 9 open reading frame 173 9606.ENSP00000373586 C2orf54 447 Uncharacterized protein C2orf54; Chromosome 2 open reading frame 54 9606.ENSP00000373594 C15orf27 531 Transmembrane protein 266; Chromosome 15 open reading frame 27 9606.ENSP00000373600 LRRK1 2015 Leucine rich repeat kinase 1; Roco domain containing 9606.ENSP00000373610 OTOA 1139 Otoancorin; May act as an adhesion molecule; Belongs to the stereocilin family 9606.ENSP00000373620 HSPD1 573 60 kDa heat shock protein, mitochondrial; Chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp10, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per rin [...] 9606.ENSP00000373627 SEPT14 432 Septin-14; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential); Septins 9606.ENSP00000373647 FAM83G 823 Protein FAM83G; May regulate the bone morphogenetic proteins (BMP) pathway 9606.ENSP00000373648 KCNQ3 872 Potassium voltage-gated channel subfamily KQT member 3; Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability; Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily 9606.ENSP00000373657 C17orf85 620 Nuclear cap-binding protein subunit 3; Associates with NCBP1/CBP80 to form an alternative cap- binding complex (CBC) which plays a key role in mRNA export. NCBP3 serves as adapter protein linking the capped RNAs (m7GpppG-capped RNA) to NCBP1/CBP80. Unlike the conventional CBC with NCBP2 which binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus, the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role in only mRNA export. The alternative CBC is particularly important in cellular stress [...] 9606.ENSP00000373669 C17orf59 357 BLOC-1-related complex subunit 6; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor; Belongs to the BORCS6 family 9606.ENSP00000373674 NT5M 228 5'(3')-deoxyribonucleotidase, mitochondrial; Dephosphorylates specifically the 5' and 2'(3')- phosphates of uracil and thymine deoxyribonucleotides, and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP; 5'-nucleotidases 9606.ENSP00000373684 STK38L 464 Serine/threonine-protein kinase 38-like; Involved in the regulation of structural processes in differentiating and mature neuronal cells 9606.ENSP00000373696 TRIP12 2040 E3 ubiquitin-protein ligase TRIP12; E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardeless of the presence of lysine residues in target proteins. In normal cells, mediates ubiquitination and degradation of isoform p19ARF/ARF of CDKN2A, a lysine-less tumor suppressor required for p53/TP53 activation under oncogenic stress. In cancer cells, however, isoform p19ARF/ARF and TRIP12 are located in [...] 9606.ENSP00000373700 ALK 1620 ALK tyrosine kinase receptor; Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system. Transduces signals from ligands at the cell surface, through specific activation of the mitogen-activated protein kinase (MAPK) pathway. Phosphorylates almost exclusively at the first tyrosine of the Y- x-x-x-Y-Y motif. Following activation by ligand, ALK induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as o [...] 9606.ENSP00000373702 PP2D1 630 Protein phosphatase 2C like domain containing 1 9606.ENSP00000373713 SACM1L 587 Phosphatidylinositide phosphatase SAC1; Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 4-phosphate (PtdIns(4)P). Has low activity towards PtdIns(3,5)P2 (By similarity) 9606.ENSP00000373715 DCP2 420 m7GpppN-mRNA hydrolase; Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP. Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Plays a role in replication-dependent histone mRNA degradation. Has higher activity towards mRNAs that lack a poly(A) tail. Has no activity towards a cap structure lacking an RNA moiety. Blocks autophagy in nutrient-rich conditions by repressing the expression [...] 9606.ENSP00000373726 FAM159B 160 Membrane protein FAM159B; Family with sequence similarity 159, member B 9606.ENSP00000373734 DENND5B 1274 DENN domain-containing protein 5B; Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form; DENN/MADD domain containing 9606.ENSP00000373752 RNF180 592 E3 ubiquitin-protein ligase RNF180; E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of ZIC2; Ring finger proteins 9606.ENSP00000373772 RNF20 975 E3 ubiquitin-protein ligase BRE1A; Component of the RNF20/40 E3 ubiquitin-protein ligase complex that mediates monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me, respectively). It thereby plays a central role inb histone code and gene regulation. The RNF20/40 complex forms a H2B ubiquitin ligase complex in cooperation with the E2 enzyme UBE2A or UBE2B; reports about the cooperation with UBE2E1/UBCH are contradi [...] 9606.ENSP00000373783 LOXL2 774 Lysyl oxidase homolog 2; Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine). When secreted in extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding. When nuclear, acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 [...] 9606.ENSP00000373808 FAM169A 670 Soluble lamin-associated protein of 75 kDa; Family with sequence similarity 169 member A; Belongs to the FAM169 family 9606.ENSP00000373827 CCDC150 1101 Coiled-coil domain containing 150 9606.ENSP00000373828 CCDC154 674 Coiled-coil domain containing 154 9606.ENSP00000373854 ITGAD 1161 Integrin alpha-D; Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing lipoproteins from plaques and in phagocytosis of blood- borne pathogens, particulate matter, and senescent erythrocytes from the blood; CD molecules 9606.ENSP00000373860 ASPDH 283 Putative L-aspartate dehydrogenase; Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate 9606.ENSP00000373884 RYR3 4870 Ryanodine receptor 3; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction. May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling; EF-hand domain containing 9606.ENSP00000373895 POU6F1 301 POU domain, class 6, transcription factor 1; Transcription factor that binds preferentially to a variant of the octamer motif (5'-ATGATAAT-3'); POU class homeoboxes and pseudogenes 9606.ENSP00000373905 DNM2 870 Dynamin-2; Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis. Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity); Pleckstrin homology domain containing 9606.ENSP00000373918 GARS 739 Glycine--tRNA ligase; Catalyzes the ligation of glycine to the 3'-end of its cognate tRNA. Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs; Belongs to the class-II aminoacyl-tRNA synthetase family 9606.ENSP00000373937 PRTG 1150 Protogenin; May play a role in anteroposterior axis elongation; Fibronectin type III domain containing 9606.ENSP00000373948 CFAP69 941 Cilia- and flagella-associated protein 69; Armadillo-like helical domain containing 9606.ENSP00000373952 FANCA 1455 Fanconi anemia group A protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability; Fanconi anemia complementation groups 9606.ENSP00000373964 SMTNL2 461 Smoothelin-like protein 2; Smoothelin like 2 9606.ENSP00000373979 TRAPPC9 1246 Trafficking protein particle complex subunit 9; Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the NIBP family 9606.ENSP00000374013 PRB2 416 Basic salivary proline-rich protein 2; Proline rich protein BstNI subfamily 2 9606.ENSP00000374014 TM6SF2 377 Transmembrane 6 superfamily member 2; Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. May function as sterol isomerase; Belongs to the TM6SF family 9606.ENSP00000374036 RPH3A 694 Rabphilin-3A; Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal (By similarity); Synaptotagmin like tandem C2 proteins 9606.ENSP00000374037 VPS9D1 631 VPS9 domain containing 1 9606.ENSP00000374045 DNAH6 4158 Dynein heavy chain 6, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (By similarity); Belongs to the dynein heavy chain family 9606.ENSP00000374049 VWA3A 1184 Von Willebrand factor A domain containing 3A 9606.ENSP00000374069 PTPRN2 1015 Receptor-type tyrosine-protein phosphatase N2; Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones [...] 9606.ENSP00000374071 ADAMTS20 1910 A disintegrin and metalloproteinase with thrombospondin motifs 20; May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease- independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000374125 SIGLEC15 328 Sialic acid-binding Ig-like lectin 15; Binds sialylated glycoproteins; Sialic acid binding Ig like lectins 9606.ENSP00000374135 LRP1B 4599 Low-density lipoprotein receptor-related protein 1B; Potential cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis; Low density lipoprotein receptors 9606.ENSP00000374145 CHRNG 517 Acetylcholine receptor subunit gamma; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits 9606.ENSP00000374152 SMYD5 418 SET and MYND domain-containing protein 5; Zinc fingers MYND-type; Belongs to the class V-like SAM-binding methyltransferase superfamily 9606.ENSP00000374183 CAMSAP1 1602 Calmodulin-regulated spectrin-associated protein 1; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization. Specifically recognizes growing microtubule minus-ends and stabilizes microtubules. Acts on free microtubule minus-ends that are not capped by microtubule- nucleating proteins or other factors and protects microtubule minus-ends from depolymerization. In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymeri [...] 9606.ENSP00000374205 TBR1 682 T-box brain protein 1; Probable transcriptional regulator involved in developmental processes. Required for normal brain development; T-boxes 9606.ENSP00000374211 EP400NL 419 EP400 N-terminal-like protein; EP400 N-terminal like 9606.ENSP00000374213 EP400 3123 E1A-binding protein p400; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. May be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the associ [...] 9606.ENSP00000374218 ESYT3 886 Extended synaptotagmin-3; Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane; Extended synaptotagmins 9606.ENSP00000374234 TMEM72 275 Transmembrane protein 72 9606.ENSP00000374237 NXPE2 559 NXPE family member 2; Neurexophilin and PC-esterase domain family member 2 9606.ENSP00000374240 SHOX2 355 Short stature homeobox protein 2; May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation; PRD class homeoboxes and pseudogenes 9606.ENSP00000374265 GPX2 190 Glutathione peroxidase 2; Could play a major role in protecting mammals from the toxicity of ingested organic hydroperoxides. Tert-butyl hydroperoxide, cumene hydroperoxide and linoleic acid hydroperoxide but not phosphatidycholine hydroperoxide, can act as acceptors; Selenoproteins 9606.ENSP00000374268 GXYLT2 443 Glucoside xylosyltransferase 2; Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose; Glycosyltransferase family 8 9606.ENSP00000374273 CRYBG3 2970 Very large A-kinase anchor protein; Isoform vlAKAP: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA); Beta-gamma crystallin domain containing 9606.ENSP00000374274 SSC5D 1573 Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity); Scavenger receptor cysteine rich domai [...] 9606.ENSP00000374280 RTF1 710 RNA polymerase-associated protein RTF1 homolog; Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription [...] 9606.ENSP00000374292 CCDC57 916 Coiled-coil domain containing 57 9606.ENSP00000374309 LAMA1 3075 Laminin subunit alpha-1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000374323 EPHA6 1130 Ephrin type-A receptor 6; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling (By similarity) 9606.ENSP00000374328 FAXC 409 Failed axon connections homolog; May play a role in axonal development 9606.ENSP00000374332 TSN 228 Translin; DNA-binding protein that specifically recognizes consensus sequences at the breakpoint junctions in chromosomal translocations, mostly involving immunoglobulin (Ig)/T-cell receptor gene segments. Seems to recognize single-stranded DNA ends generated by staggered breaks occurring at recombination hot spots; Belongs to the translin family 9606.ENSP00000374353 HAGHL 282 Hydroxyacylglutathione hydrolase-like protein; Hydrolase acting on ester bonds 9606.ENSP00000374354 EXOSC8 276 Exosome complex component RRP43; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cyto [...] 9606.ENSP00000374359 ZXDC 858 Zinc finger protein ZXDC; Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes; Zinc fingers C2H2-type 9606.ENSP00000374377 FAM101A 135 Refilin-A; Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells 9606.ENSP00000374387 TRMT44 757 Probable tRNA (uracil-O(2)-)-methyltransferase; Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase; Belongs to the TRM44 family 9606.ENSP00000374390 GPR149 731 Probable G-protein coupled receptor 149; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000374399 TRMT61A 289 tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A; Catalytic subunit of tRNA (adenine-N(1)-)- methyltransferase, which catalyzes the formation of N(1)- methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. Catalytic subunit of mRNA N(1)- methyltransferase complex, which mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries 9606.ENSP00000374409 PKP4 1192 Plakophilin-4; Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques; Armadillo repeat containing 9606.ENSP00000374424 ARHGAP8 464 Rho GTPase activating protein 8; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state; BCH domain containing 9606.ENSP00000374443 LYST 3801 Lysosomal-trafficking regulator; May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules; BEACH domain containing 9606.ENSP00000374447 LRCH1 763 Leucine-rich repeat and calponin homology domain-containing protein 1; Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration 9606.ENSP00000374455 SQSTM1 440 Sequestosome-1; Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family. Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with SQSTM1, required to recruit ubiquitinated proteins to PML bodies in the nucleus. May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate sign [...] 9606.ENSP00000374482 MRGPRE 312 Mas-related G-protein coupled receptor member E; Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain; G protein-coupled receptors, Class A orphans 9606.ENSP00000374484 TMEM87A 555 Transmembrane protein 87A; May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN) 9606.ENSP00000374490 DNAH17 4462 Dynein heavy chain 17, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity); Belongs to the dynein heavy chain family 9606.ENSP00000374501 UVSSA 709 UV-stimulated scaffold protein A; Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to [...] 9606.ENSP00000374507 CCDC88C 2028 Protein Daple; Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway; Belongs to the CCDC88 family 9606.ENSP00000374529 CCNK 580 Cyclin-K; Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A) 9606.ENSP00000374552 RNF216 923 E3 ubiquitin-protein ligase RNF216; Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down- regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis 9606.ENSP00000374562 COX16 106 COX16, cytochrome c oxidase assembly homolog; Belongs to the COX16 family 9606.ENSP00000374566 KIF19 998 Kinesin-like protein KIF19; Plus end-directed microtubule-dependent motor protein that regulates the length of motile cilia by mediating depolymerization of microtubules at ciliary tips; Kinesins 9606.ENSP00000374633 IL17REL 336 Putative interleukin-17 receptor E-like; Interleukin 17 receptor E like 9606.ENSP00000375053 TMEM203 136 Transmembrane protein 203; Involved in the regulation of cellular calcium homeotasis. Required for spermatogenesis 9606.ENSP00000375063 NLRP5 1200 NACHT, LRR and PYD domains-containing protein 5; As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions; Belongs to the NLRP family 9606.ENSP00000375066 HCAR2 363 Hydroxycarboxylic acid receptor 2; Acts as a high affinity receptor for both nicotinic acid (also known as niacin) and (D)-beta-hydroxybutyrate and mediates increased adiponectin secretion and decreased lipolysis through G(i)-protein-mediated inhibition of adenylyl cyclase. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. Mediates nicotinic acid-induced apoptosis in mature neutrophils. Receptor activation by nicotinic acid results in reduced cAMP levels which may affect activity of cAMP-dependent protein kinase A and p [...] 9606.ENSP00000375067 BCAS3 928 Breast carcinoma-amplified sequence 3; Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin; Belongs to the BCAS3 family 9606.ENSP00000375069 COL23A1 540 Collagen type XXIII alpha 1 chain; Collagens 9606.ENSP00000375073 EID2 236 EP300-interacting inhibitor of differentiation 2; Interacts with EP300 and acts as a repressor of MYOD- dependent transcription and muscle differentiation. Inhibits EP300 histone acetyltransferase activity. Acts as a repressor of TGFB/SMAD transcriptional responses. May act as a repressor of the TGFB/SMAD3-dependent signaling by selectively blocking formation of TGFB-induced SMAD3-SMAD4 complex 9606.ENSP00000375076 KRTAP4-4 166 Keratin-associated protein 4-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000375080 PPP2R3B 575 Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; EF-hand domain containing 9606.ENSP00000375081 TSSK1B 367 Testis-specific serine/threonine-protein kinase 1; Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates 'Ser-288' of TSKS. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body 9606.ENSP00000375086 CCL25 150 C-C motif chemokine 25; Potentially involved in T-cell development. Recombinant protein shows chemotactic activity on thymocytes, macrophages, THP-1 cells, and dendritics cells but is inactive on peripheral blood lymphocytes and neutrophils. Binds to CCR9. Isoform 2 is an antagonist of isoform 1. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000375091 TAS2R19 299 Taste receptor type 2 member 19; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000375093 TAS2R31 309 Taste receptor type 2 member 31; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). Activated by the sulfonyl amide sweeteners saccharin and acesulfame K; Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000375095 TAS2R13 303 Taste receptor type 2 member 13; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5; Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000375107 KRTAP19-6 58 Keratin-associated protein 19-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000375108 KRTAP19-1 90 Keratin-associated protein 19-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 19 family 9606.ENSP00000375109 KRTAP13-3 172 Keratin-associated protein 13-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000375133 ZRSR1 479 U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 9606.ENSP00000375147 KRTAP16-1 517 Keratin associated protein 16-1; Belongs to the KRTAP type 16 family 9606.ENSP00000375148 KRTAP29-1 341 Keratin associated protein 29-1; Belongs to the KRTAP type 10 family 9606.ENSP00000375149 KRTAP9-7 169 Keratin-associated protein 9-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000375150 KRTAP9-6 160 Keratin-associated protein 9-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000375151 KRTAP4-3 195 Keratin-associated protein 4-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family 9606.ENSP00000375220 CTAGE1 745 cTAGE family member 2; Cutaneous T cell lymphoma-associated antigen 1; CTAGE family 9606.ENSP00000375232 KRTAP4-11 195 Keratin-associated protein 4-11; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000375234 KRTAP4-9 210 Keratin-associated protein 4-9; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family 9606.ENSP00000375236 KRTAP4-7 155 Keratin associated protein 4-7 9606.ENSP00000375237 KRTAP2-3 128 Keratin associated protein 2-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000375238 KRTAP2-1 128 Keratin-associated protein 2-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000375248 BHLHA9 235 Class A basic helix-loop-helix protein 9; Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis; Basic helix-loop-helix proteins 9606.ENSP00000375267 FAM127B 113 Retrotransposon Gag-like protein 8A; Family with sequence similarity 127, member B; Belongs to the FAM127 family 9606.ENSP00000375268 FAM127C 113 Retrotransposon Gag-like protein 8B; Family with sequence similarity 127, member C; Belongs to the FAM127 family 9606.ENSP00000375311 PRR33 479 Proline-rich protein 33; Proline rich 33 9606.ENSP00000375334 OR2A42 310 Olfactory receptor, family 2, subfamily A, member 42; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000375428 KRTAP3-3 98 Keratin-associated protein 3-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 3 family 9606.ENSP00000375429 KRTAP3-2 98 Keratin-associated protein 3-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000375430 KRTAP3-1 98 Keratin-associated protein 3-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000375475 KRTAP12-1 96 Keratin-associated protein 12-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 12 family 9606.ENSP00000375476 KRTAP12-4 112 Keratin-associated protein 12-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 12 family 9606.ENSP00000375478 KRTAP10-3 221 Keratin-associated protein 10-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000375479 KRTAP10-2 255 Keratin-associated protein 10-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family 9606.ENSP00000375482 KRTAP6-3 110 Keratin-associated protein 6-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000375582 ZNF552 407 Zinc finger protein 552; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000375586 ZNF304 659 Zinc finger protein 304; Acts as transcriptional regulator and plays a role in gene silencing. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of several tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells. Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) by inducing trimethylation of 'Lys-27' of histone H3 (H3K27me3) in a Polycomb group (PcG) complexes-dependent manner. Associates at promoter re [...] 9606.ENSP00000375593 ZSCAN5A 496 Zinc finger and SCAN domain-containing protein 5A; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000375608 KIR3DL1 444 Killer cell immunoglobulin-like receptor 3DL1; Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis; CD molecules 9606.ENSP00000375616 LILRB4 448 Leukocyte immunoglobulin-like receptor subfamily B member 4; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance, e.g. towards transplants. Interferes with TNFRSF5- signaling and NF-kappa-B up-regulation. Inhibits receptor-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions; CD molecules 9606.ENSP00000375622 LAIR1 287 Leukocyte-associated immunoglobulin-like receptor 1; Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down- regulating IL2 and IFNG production while induc [...] 9606.ENSP00000375629 LILRB2 598 Leukocyte immunoglobulin-like receptor subfamily B member 2; Receptor for class I MHC antigens. Recognizes a broad spectrum of HLA-A, HLA-B, HLA-C and HLA-G alleles. Involved in the down-regulation of the immune response and the development of tolerance. Competes with CD8A for binding to class I MHC antigens. Inhibits FCGR1A-mediated phosphorylation of cellular proteins and mobilization of intracellular calcium ions 9606.ENSP00000375639 TFPT 253 TCF3 fusion partner; Appears to promote apoptosis in a p53/TP53-independent manner; INO80 complex 9606.ENSP00000375647 CACNG7 275 Voltage-dependent calcium channel gamma-7 subunit; Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state; Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily 9606.ENSP00000375649 MYADM 322 Myeloid associated differentiation marker; Belongs to the MAL family 9606.ENSP00000375653 NLRP12 1062 NACHT, LRR and PYD domains-containing protein 12; May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK; NLR family 9606.ENSP00000375656 ZNF321P 233 Putative protein ZNF321; Zinc finger protein 321, pseudogene 9606.ENSP00000375678 KLK14 267 Kallikrein-14; Serine-type endopeptidase with a dual trypsin-like and chymotrypsin-like substrate specificity. May activate/inactivate the proteinase-activated receptors F2R, F2RL1 and F2RL3 and other kallikreins including KLK1, KLK3, KLK5 and KLK11. May function in seminal clot liquefaction through direct cleavage of the semenogelin SEMG1 and SEMG2 and activation of KLK3. May function through desmoglein DSG1 cleavage in epidermal desquamation a process by which the most superficial corneocytes are shed from the skin surface. May be involved in several aspects of tumor progression incl [...] 9606.ENSP00000375682 KLK8 305 Kallikrein-8; Kallikrein related peptidase 8; Kallikreins 9606.ENSP00000375683 KLK7 253 Kallikrein-7; May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6- Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|- Thr-27'. Could play a role in the activation of precursors to inflammatory cytokines; Kallikreins 9606.ENSP00000375711 AKT1S1 276 Proline-rich AKT1 substrate 1; Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis [...] 9606.ENSP00000375717 PTOV1 416 Prostate tumor-overexpressed gene 1 protein; May activate transcription. Required for nuclear translocation of FLOT1. Promotes cell proliferation 9606.ENSP00000375727 GNG4 75 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000375730 RPL13A 203 60S ribosomal protein L13a; Associated with ribosomes but is not required for canonical ribosome function and has extra-ribosomal functions. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation and subsequent phosphorylation dissociates from the ribosome and assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppre [...] 9606.ENSP00000375756 KCNJ14 436 ATP-sensitive inward rectifier potassium channel 14; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium [...] 9606.ENSP00000375767 CARD8 537 Caspase recruitment domain-containing protein 8; Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases; Caspase recruitment domain containing 9606.ENSP00000375770 ZNF541 1346 Zinc finger protein 541; Component of some chromatin remodeling multiprotein complex that plays a role during spermatogenesis; Myb/SANT domain containing 9606.ENSP00000375777 STRN4 760 Striatin-4; Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein; Belongs to the WD repeat striatin family 9606.ENSP00000375778 LAMB3 1172 Laminin subunit beta-3; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000375783 DACT3 629 Dapper homolog 3; May be involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins 9606.ENSP00000375795 IL24 207 Interleukin-24; Has antiproliferative properties on melanoma cells and may contribute to terminal cell differentiation; Belongs to the IL-10 family 9606.ENSP00000375809 ERCC2 760 TFIIH basal transcription factor complex helicase XPD subunit; ATP-dependent 5'-3' DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging proc [...] 9606.ENSP00000375810 KLC3 504 Kinesin light chain 3; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport; Belongs to the kinesin light chain family 9606.ENSP00000375820 ZNF233 670 Zinc finger protein 233; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000375822 ZNF222 491 Zinc finger protein 222; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000375829 LAD1 517 Ladinin-1; Anchoring filament protein which is a component of the basement membrane zone 9606.ENSP00000375836 HDLBP 1268 Vigilin; Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol 9606.ENSP00000375844 CAPN10 672 Calpain-10; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake; Belongs to the peptidase C2 family 9606.ENSP00000375849 OTOS 89 Otospiralin; May be essential for the survival of the neurosensory epithelium of the inner ear 9606.ENSP00000375855 PDC 246 Phosducin; May participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. Inhibits the transcriptional activation activity of the cone-rod homeobox CRX; Belongs to the phosducin family 9606.ENSP00000375857 LRRFIP1 808 Leucine-rich repeat flightless-interacting protein 1; Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5'-AGCCCCCGGCG-3') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding 9606.ENSP00000375859 TMEM91 172 Interferon induced transmembrane protein domain containing; Belongs to the CD225/Dispanin family 9606.ENSP00000375863 HNRNPUL1 856 Heterogeneous nuclear ribonucleoprotein U-like protein 1; Acts as a basic transcriptional regulator. Represses basic transcription driven by several virus and cellular promoters. When associated with BRD7, activates transcription of glucocorticoid-responsive promoter in the absence of ligand- stimulation. Plays also a role in mRNA processing and transport. Binds avidly to poly(G) and poly(C) RNA homopolymers in vitro 9606.ENSP00000375872 ATG16L1 607 Autophagy-related protein 16-1; Plays an essential role in autophagy: interacts with ATG12-ATG5 to mediate the conjugation of phosphatidylethanolamine (PE) to LC3 (MAP1LC3A, MAP1LC3B or MAP1LC3C), to produce a membrane-bound activated form of LC3 named LC3-II. Thereby, controls the elongation of the nascent autophagosomal membrane. Regulates mitochondrial antiviral signaling (MAVS)-dependent type I interferon (IFN-I) production. Negatively regulates NOD1- and NOD2- driven inflammatory cytokine response. Plays a role in regulating morphology and function of Paneth cell; Belongs to the W [...] 9606.ENSP00000375881 ALPP 535 Alkaline phosphatase, placental 9606.ENSP00000375892 AKT2 481 RAC-beta serine/threonine-protein kinase; AKT2 is one of 3 closely related serine/threonine- protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of the [...] 9606.ENSP00000375894 GPR55 319 G-protein coupled receptor 55; May be involved in hyperalgesia associated with inflammatory and neuropathic pain (By similarity). Receptor for L- alpha-lysophosphatidylinositol (LPI). LPI induces Ca(2+) release from intracellular stores via the heterotrimeric G protein GNA13 and RHOA. Putative cannabinoid receptor. May play a role in bone physiology by regulating osteoclast number and function 9606.ENSP00000375899 SP140 867 Nuclear body protein SP140; Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body. May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection. May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails; Bromodomain containing 9606.ENSP00000375904 LGALS16 142 Galectin-16; Binds lactose with high affinity. Strong inducer of T- cell apoptosis; Galectins 9606.ENSP00000375907 PID1 248 PTB-containing, cubilin and LRP1-interacting protein; Increases proliferation of preadipocytes without affecting adipocytic differentiation 9606.ENSP00000375909 SPHKAP 1700 A-kinase anchor protein SPHKAP; Anchoring protein that binds preferentially to the type I regulatory subunit of c-AMP-dependent protein kinase (PKA type I) and targets it to distinct subcellular compartments. May act as a converging factor linking cAMP and sphingosine signaling pathways. Plays a regulatory role in the modulation of SPHK1; A-kinase anchoring proteins 9606.ENSP00000375914 RHBDD1 315 Rhomboid-related protein 4; Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfe [...] 9606.ENSP00000375919 SAMD4A 718 Protein Smaug homolog 1; Acts as a translational repressor of SRE-containing messengers; Belongs to the SMAUG family 9606.ENSP00000375921 PAX3 505 Paired box protein Pax-3; Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10; Belongs to the paired homeobox family 9606.ENSP00000375942 TBP 339 TATA-box-binding protein; General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase [...] 9606.ENSP00000375951 TTLL4 1199 Tubulin polyglutamylase TTLL4; Glutamylase which preferentially modifies beta-tubulin and non-tubulin proteins, such as NAP1L1, NAP1L4 and CGAS/MB21D1. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step. Involved in formation of short side-chains. Mediates initiation of polyglutamylation of nucleosome assembly proteins NAP1L1 and NAP1L4. Also acts as a monoglutamylase: generates monoglutamylation of CGAS/MB21D1, leading to impair the nucleotidyltransferase activity of CGAS/MB21D1; Tubulin tyrosine ligase family 9606.ENSP00000375960 MLLT4 1743 Afadin; Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton 9606.ENSP00000375978 XRCC5 732 X-ray repair cross-complementing protein 5; Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic s [...] 9606.ENSP00000375986 MAP3K4 1608 Mitogen-activated protein kinase kinase kinase 4; Component of a protein kinase signal transduction cascade. Activates the CSBP2, P38 and JNK MAPK pathways, but not the ERK pathway. Specifically phosphorylates and activates MAP2K4 and MAP2K6 9606.ENSP00000376007 PNLDC1 531 Poly(A)-specific ribonuclease PNLDC1; 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. May act as a regulator of multipotency in embryonic stem cells (By similarity) 9606.ENSP00000376010 ZNF566 419 Zinc finger protein 566; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000376024 SNX9 595 Sorting nexin-9; Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Promotes internalization of TNFR. Promotes degradation of EGFR after EGF signaling. Stimulates the GTPase activity of DNM1. Promotes DNM1 oligomerization. Promot [...] 9606.ENSP00000376035 ZBTB32 487 Zinc finger and BTB domain-containing protein 32; DNA-binding protein that binds to the to a 5'- TGTACAGTGT-3' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity); BTB domain containing 9606.ENSP00000376048 MAG 626 Myelin-associated glycoprotein; Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid- containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on [...] 9606.ENSP00000376056 EEF1B2 225 Elongation factor 1-beta; EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP 9606.ENSP00000376071 FAM117B 589 Protein FAM117B; Family with sequence similarity 117 member B 9606.ENSP00000376077 SUMO1 101 Small ubiquitin-related modifier 1; Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Involved for instan [...] 9606.ENSP00000376097 URI1 535 Unconventional prefoldin RPB5 interactor 1; Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein; Belongs to the RNA polymerase II subunit [...] 9606.ENSP00000376103 C19orf12 152 Protein C19orf12; Chromosome 19 open reading frame 12 9606.ENSP00000376110 ZNF493 774 Zinc finger protein 493; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000376123 SH2D2A 399 SH2 domain-containing protein 2A; Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56- LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation; SH2 domain containing 9606.ENSP00000376132 MYO1B 1136 Unconventional myosin-Ib; Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport; Myosins, class I 9606.ENSP00000376134 STAT4 748 Signal transducer and activator of transcription 4; Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling; SH2 domain containing 9606.ENSP00000376135 ZNF605 672 Zinc finger protein 605; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000376139 WDR45B 344 WD repeat domain containing 9606.ENSP00000376141 MFSD6 791 Major facilitator superfamily domain containing 6 9606.ENSP00000376142 INPP1 399 Inositol polyphosphate-1-phosphatase; Belongs to the inositol monophosphatase superfamily 9606.ENSP00000376167 GPS1 527 COP9 signalosome complex subunit 1; Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kina [...] 9606.ENSP00000376168 STRA13 81 Centromere protein X; DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPS and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked rep [...] 9606.ENSP00000376178 STX2 288 Syntaxin-2; Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm; Syntaxins 9606.ENSP00000376184 BDH1 343 D-beta-hydroxybutyrate dehydrogenase, mitochondrial; Short chain dehydrogenase/reductase superfamily; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000376188 CRLF1 422 Cytokine receptor-like factor 1; Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development; Fibronectin type III domain containing 9606.ENSP00000376204 ASH1L 2964 Histone-lysine N-methyltransferase ASH1L; Histone methyltransferase specifically methylating 'Lys- 36' of histone H3 (H3K36me); Bromodomain containing 9606.ENSP00000376213 KIAA1683 1367 IQ domain-containing protein N; KIAA1683 9606.ENSP00000376224 TMEM200A 491 Transmembrane protein 200A; Belongs to the TMEM200 family 9606.ENSP00000376227 TMEM44 475 Transmembrane protein 44 9606.ENSP00000376246 MB21D2 491 Protein MB21D2; Mab-21 domain containing 2 9606.ENSP00000376250 CCDC50 482 Coiled-coil domain-containing protein 50; Involved in EGFR signaling; Deafness associated genes 9606.ENSP00000376258 RNF34 373 E3 ubiquitin-protein ligase RNF34; E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis. May mediate 'Lys-48'-linked polyubiquitination of RIPK1 and its subsequent proteasomal degradation thereby indirectly regulating the tumor necrosis factor-mediated signaling pathway (Ref.13). Negatively reg [...] 9606.ENSP00000376268 SEC14L1 719 SEC14-like protein 1; May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of DDX58/RIG-I, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of DDX58 with MAVS/IPS1, an important step in signal propagation. May also regulate the SLC18A3 and SLC5A7 cholinergic transporters; PRELI domain containing 9606.ENSP00000376269 NCOA7 942 Nuclear receptor coactivator 7; Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA; Belongs to the OXR1 family 9606.ENSP00000376272 RFC4 363 Replication factor C subunit 4; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit may be involved in the elongation of the multiprimed DNA template 9606.ENSP00000376276 SRSF2 221 Serine/arginine-rich splicing factor 2; Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre- mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or [...] 9606.ENSP00000376278 LENEP 61 Lens epithelial cell protein LEP503; May play a role in lens epithelial cell differentiation 9606.ENSP00000376287 CRYGS 178 Beta-crystallin S; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family 9606.ENSP00000376293 OSBPL6 959 Oxysterol-binding protein-related protein 6; Weakly binds 25-hydroxycholesterol; Belongs to the OSBP family 9606.ENSP00000376297 DYNLL1 89 Dynein light chain 1, cytoplasmic; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures; Belongs to the dynein light chain family 9606.ENSP00000376303 CPT1C 803 Carnitine O-palmitoyltransferase 1, brain isoform; May play a role in lipid metabolic process; Belongs to the carnitine/choline acetyltransferase family 9606.ENSP00000376304 TMEM121 319 Transmembrane protein 121; May play a role in MAPK signaling; Belongs to the TMEM121 family 9606.ENSP00000376306 CIT 2069 Citron Rho-interacting kinase; Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2 9606.ENSP00000376307 C14orf80 426 Uncharacterized protein C14orf80; Chromosome 14 open reading frame 80 9606.ENSP00000376309 HNRNPA3 378 Heterogeneous nuclear ribonucleoprotein A3; Plays a role in cytoplasmic trafficking of RNA. Binds to the cis-acting response element, A2RE. May be involved in pre-mRNA splicing; RNA binding motif containing 9606.ENSP00000376317 TAOK3 898 Serine/threonine-protein kinase TAO3; Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. Acts as an activator of the p38/MAPK14 stress- activated MAPK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of MAPK8/JNK cascade and diminishes its activation in response epidermal growth factor (EGF) 9606.ENSP00000376322 HOXD13 343 Homeobox protein Hox-D13; Sequence-specific transcription factor that binds gene promoters and activates their transcription. Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity); Belongs to the Abd-B homeobox family 9606.ENSP00000376330 WIPF1 503 WAS/WASL-interacting protein family member 1; Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus 9606.ENSP00000376333 LLGL2 1020 Lethal(2) giant larvae protein homolog 2; Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity; Belongs to the WD repeat L(2)GL family 9606.ENSP00000376335 GPR155 870 Integral membrane protein GPR155; G protein-coupled receptor 155 9606.ENSP00000376337 BTBD6 485 BTB/POZ domain-containing protein 6; Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity); BTB domain containing 9606.ENSP00000376345 GRB2 217 Growth factor receptor-bound protein 2; Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway; SH2 domain containing 9606.ENSP00000376349 NUDT14 222 Uridine diphosphate glucose pyrophosphatase; Hydrolyzes UDP-glucose to glucose 1-phosphate and UMP and ADP-ribose to ribose 5-phosphate and AMP. The physiological substrate is probably UDP-glucose. Poor activity on other substrates such as ADP-glucose, CDP-glucose, GDP-glucose and GDP- mannose; Nudix hydrolase family 9606.ENSP00000376352 PDK1 456 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial; Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia. Protect [...] 9606.ENSP00000376368 WASF1 559 Wiskott-Aldrich syndrome protein family member 1; Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF- NTRK2 endocytic trafficking and signaling from early endosomes (By similarity); A-kinase anchoring proteins 9606.ENSP00000376372 PLD4 506 Phospholipase D family member 4; Belongs to the phospholipase D family 9606.ENSP00000376384 GPR123 560 Adhesion G protein-coupled receptor A1; Orphan receptor 9606.ENSP00000376390 RAB37 228 Ras-related protein Rab-37; RAB37, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000376395 CD300E 205 CMRF35-like molecule 2; Probably acts as an activating receptor; CD molecules 9606.ENSP00000376397 CD300LB 201 CMRF35-like molecule 7; Acts as an activating immune receptor through its interaction with ITAM-bearing adapter TYROBP, and also independently by recruitment of GRB2; V-set domain containing 9606.ENSP00000376403 GPRC5C 486 G-protein coupled receptor family C group 5 member C; This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways; G protein-coupled receptors, Class C orphans 9606.ENSP00000376410 INF2 1249 Inverted formin-2; Severs actin filaments and accelerates their polymerization and depolymerization; Armadillo-like helical domain containing 9606.ENSP00000376417 ARMC2 867 Armadillo repeat containing 2 9606.ENSP00000376419 KLHL23 558 Kelch-like protein 23; Kelch like family member 23; BTB domain containing 9606.ENSP00000376421 SDK2 2172 Protein sidekick-2; Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions; Fibronectin type III domain containing 9606.ENSP00000376423 SPRR2A 72 Small proline-rich protein 2A; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane; Belongs to the cornifin (SPRR) family 9606.ENSP00000376432 KCNJ1 391 ATP-sensitive inward rectifier potassium channel 1; In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal A [...] 9606.ENSP00000376436 ETS1 485 Protein C-ets-1; Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion 9606.ENSP00000376440 RAD9B 429 Cell cycle checkpoint control protein RAD9B; RAD9 checkpoint clamp component B 9606.ENSP00000376443 ABCA5 1642 ATP-binding cassette sub-family A member 5; May play a role in the processing of autolysosomes; Belongs to the ABC transporter superfamily. ABCA family 9606.ENSP00000376445 TIRAP 235 Toll/interleukin-1 receptor domain-containing adapter protein; Adapter involved in TLR2 and TLR4 signaling pathways in the innate immune response. Acts via IRAK2 and TRAF-6, leading to the activation of NF-kappa-B, MAPK1, MAPK3 and JNK, and resulting in cytokine secretion and the inflammatory response. Positively regulates the production of TNF-alpha and interleukin-6; TIR domain containing 9606.ENSP00000376453 CERS6 392 Ceramide synthase 6; May be involved in sphingolipid synthesis or its regulation; CERS class homeoboxes 9606.ENSP00000376456 B3GALT1 326 Beta-1,3-galactosyltransferase 1; Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N- acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N- acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues 9606.ENSP00000376457 ECT2 914 Protein ECT2; Guanine nucleotide exchange factor (GEF) that catalyzes the exchange of GDP for GTP. Promotes guanine nucleotide exchange on the Rho family members of small GTPases, like RHOA, RHOC, RAC1 and CDC42. Required for signal transduction pathways involved in the regulation of cytokinesis. Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Regulates the translocation of RHOA from the central spindle to the equatorial region. Plays a role i [...] 9606.ENSP00000376458 CDON 1287 Cell adhesion molecule-related/down-regulated by oncogenes; Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity); Fibronectin type III domain containing 9606.ENSP00000376465 GALNT3 633 Polypeptide N-acetylgalactosaminyltransferase 3; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily 9606.ENSP00000376472 STT3A 705 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A; Catalytic subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). SST3A seems to be involved in complex [...] 9606.ENSP00000376475 PRKAR1A 381 cAMP-dependent protein kinase type I-alpha regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells 9606.ENSP00000376505 TANK 425 TRAF family member-associated NF-kappa-B activator; Adapter protein involved in I-kappa-B-kinase (IKK) regulation which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. Acts as a regulator of TRAF function by maintaining them in a latent state. Blocks TRAF2 binding to LMP1 and inhibits LMP1-mediated NF-kappa-B activation. Negatively regulates NF-kappaB signaling and cell survival upon DNA damage. Plays a role as an adapter to assemble ZC3H12A, USP10 in a deubiquitination complex which plays a negative feedback response to attenuate NF-kappaB activation t [...] 9606.ENSP00000376506 PDCD10 212 Programmed cell death protein 10; Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and STK26 activity. Important for cell migration, and for normal structure and assembly of the Golgi complex. Important for KDR/VEGFR2 signaling. Increases the stability of KDR/VEGFR2 and prevents its breakdown. Required for normal cardiovascular development. Required for normal angiogenesis, vasculogenesis and hematopoiesis during embryonic development (By similarity); Belongs to the PDCD10 family 9606.ENSP00000376522 CEP112 955 Centrosomal protein 112 9606.ENSP00000376523 SCN3B 215 Sodium channel subunit beta-3; Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (By similarity); Belongs to the sodium channel auxiliary subunit SCN3B (TC 8.A.17) family 9606.ENSP00000376532 B3GALNT1 331 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1; Transfers N-acetylgalactosamine onto globotriaosylceramide; Belongs to the glycosyltransferase 31 family 9606.ENSP00000376534 BAZ2B 2168 Bromodomain adjacent to zinc finger domain protein 2B; May play a role in transcriptional regulation interacting with ISWI; Belongs to the WAL family 9606.ENSP00000376543 TECTA 2155 Alpha-tectorin; One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals; Deafness associated genes 9606.ENSP00000376544 CD79B 230 B-cell antigen receptor complex-associated protein beta chain; Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation 9606.ENSP00000376553 TMEM119 283 Transmembrane protein 119; Plays an important role in bone formation and normal bone mineralization. Promotes the differentiation of myoblasts into osteoblasts. May induce the commitment and differentiation of myoblasts into osteoblasts through an enhancement of BMP2 production and interaction with the BMP-RUNX2 pathway. Upregulates the expression of ATF4, a transcription factor which plays a central role in osteoblast differentiation. Essential for normal spermatogenesis and late testicular differentiation (By similarity) 9606.ENSP00000376565 TMUB1 246 Transmembrane and ubiquitin-like domain-containing protein 1; Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR. Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity) 9606.ENSP00000376568 MLF1 299 Myeloid leukemia factor 1; Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses RFWD2/COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus; Belongs to the MLF family 9606.ENSP00000376570 GALNT13 556 Polypeptide N-acetylgalactosaminyltransferase 13; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has a much stronger activity than GALNT1 to transfer GalNAc to mucin peptides, such as Muc5Ac and Muc7. Able to glycosylate SDC3. May be responsible for the synthesis of Tn antigen in neuronal cells; Polypeptide N-acetylgalactosaminyltransferases 9606.ENSP00000376572 RNF208 261 Ring finger protein 208 9606.ENSP00000376583 RIC8B 520 Synembryn-B; Guanine nucleotide exchange factor (GEF), which can activate some, but not all, G-alpha proteins by exchanging bound GDP for free GTP. Able to potentiate G(olf)-alpha-dependent cAMP accumulation suggesting that it may be an important component for odorant signal transduction; Belongs to the synembryn family 9606.ENSP00000376587 SLC33A1 549 Acetyl-coenzyme A transporter 1; Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides. Negatively regulates BMP signaling; Solute carriers 9606.ENSP00000376603 SMIM8 97 Small integral membrane protein 8 9606.ENSP00000376608 GTDC1 458 Glycosyltransferase-like domain-containing protein 1; Glycosyl transferases group 1 domain containing; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily 9606.ENSP00000376609 GRK5 590 G protein-coupled receptor kinase 5; Serine/threonine kinase that phosphorylates preferentially the activated forms of a variety of G-protein- coupled receptors (GPCRs). Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their down-regulation. Phosphorylates a variety of GPCRs, including adrenergic receptors, muscarinic acetylcholine receptors (more specifically Gi-coupled M2/M4 subtypes), dopamine receptors and opioid receptors. In addition to GPCRs, also phosphorylates various substrates: Hsc70- in [...] 9606.ENSP00000376611 TDG 410 G/T mismatch-specific thymine DNA glycosylase; DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5- hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thy [...] 9606.ENSP00000376615 NT5DC3 548 5'-nucleotidase domain containing 3 9606.ENSP00000376623 CSH2 217 Chorionic somatomammotropin hormone 2; Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization; Growth hormone family 9606.ENSP00000376652 EVL 418 Ena/VASP-like protein; Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization; Belongs to the Ena/VASP family 9606.ENSP00000376658 SYCP3 236 Synaptonemal complex protein 3; Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility. Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity); Belongs to the XLR/SYCP3 family 9606.ENSP00000376686 LCA5 697 Lebercilin; Might be involved in minus end-directed microtubule transport 9606.ENSP00000376702 CYB561 251 Cytochrome b561; Secretory vesicle-specific electron transport protein; Cytochrome b561 9606.ENSP00000376703 ANO4 955 Anoctamin-4; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity; Belongs to the anoctamin family 9606.ENSP00000376708 VWA2 755 Von Willebrand factor A domain containing 2 9606.ENSP00000376732 MRPS33 106 Mitochondrial ribosomal protein S33; Belongs to the mitochondrion-specific ribosomal protein mS33 family 9606.ENSP00000376753 GIPC1 333 PDZ domain-containing protein GIPC1; May be involved in G protein-linked signaling; Belongs to the GIPC family 9606.ENSP00000376765 PIAS3 628 E3 SUMO-protein ligase PIAS3; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. Sumoylates CCAR2 which promotes its interaction with [...] 9606.ENSP00000376767 C11orf57 293 Uncharacterized protein NKAPD1; Chromosome 11 open reading frame 57 9606.ENSP00000376776 DBH 617 Dopamine beta-hydroxylase; Conversion of dopamine to noradrenaline 9606.ENSP00000376786 POU2AF1 256 POU domain class 2-associating factor 1; Transcriptional coactivator that specifically associates with either OCT1 or OCT2. It boosts the OCT1 mediated promoter activity and to a lesser extent, that of OCT2. It has no intrinsic DNA-binding activity. It recognizes the POU domains of OCT1 and OCT2. It is essential for the response of B-cells to antigens and required for the formation of germinal centers; Belongs to the POU2AF1 family 9606.ENSP00000376792 VTI1A 217 Vesicle transport through interaction with t-SNAREs homolog 1A; V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non- conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular [...] 9606.ENSP00000376793 GIG25 423 Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3; Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2; Serpin peptidase inhibitors 9606.ENSP00000376800 MTPN 118 Myotrophin; Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy; Belongs to the myotrophin family 9606.ENSP00000376807 DPEP1 411 Dipeptidase 1; Hydrolyzes a wide range of dipeptides. Implicated in the renal metabolism of glutathione and its conjugates. Converts leukotriene D4 to leukotriene E4; it may play an important role in the regulation of leukotriene activity 9606.ENSP00000376808 CUL5 780 Cullin-5; Core component of multiple SCF-like ECS (Elongin-Cullin 2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin- conjugating enzyme. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. ECS(SOCS1) seems to direct ubiquitination of JAK2. Seems to be involved in proteosomal degradation of p53/TP53 stimulate [...] 9606.ENSP00000376822 STEAP3 498 Metalloreductase STEAP3; Endosomal ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Participates in erythroid iron homeostasis by reducing Fe(3+) to Fe(2+). Can also reduce of Cu(2+) to Cu(1+), suggesting that it participates in copper homeostasis. Uses NADP(+) as acceptor. May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression. Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP; STEAP family 9606.ENSP00000376823 C7orf49 157 Cell cycle regulator of non-homologous end joining; Isoform 1: Cell-cycle-specific inhibitor of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases. Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present. Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that fav [...] 9606.ENSP00000376827 MKS1 559 Meckel syndrome type 1 protein; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology; B9 domain containing 9606.ENSP00000376840 BPGM 259 Bisphosphoglycerate mutase; Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3- bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.1) activity; Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily 9606.ENSP00000376848 PRIMA1 153 Proline-rich membrane anchor 1; Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity) 9606.ENSP00000376849 CASP5 447 Caspase-5; Mediator of programmed cell death (apoptosis). During non-canonical inflammasome activation, cuts MB21D1 and may play a role in the regulation of antiviral innate immune activation; Caspase recruitment domain containing 9606.ENSP00000376855 DPP10 800 Inactive dipeptidyl peptidase 10; Promotes cell surface expression of the potassium channel KCND2. Modulates the activity and gating characteristics of the potassium channel KCND2. Has no dipeptidyl aminopeptidase activity; DASH family 9606.ENSP00000376865 PDGFD 370 Platelet-derived growth factor D; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity) 9606.ENSP00000376872 RABL2A 228 Rab-like protein 2A; Plays an essential role in male fertility, sperm intra- flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail; RAB like GTPases 9606.ENSP00000376886 NME1-NME2 152 Nucleoside diphosphate kinase B; Major role in the synthesis of nucleoside triphosphates other than ATP. Negatively regulates Rho activity by interacting with AKAP13/LBC. Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically. Exhibits histidine protein kinase activity 9606.ENSP00000376889 NME2 267 Nucleoside diphosphate kinase; Major role in the synthesis of nucleoside triphosphates other than ATP. Negatively regulates Rho activity by interacting with AKAP13/LBC. Acts as a transcriptional activator of the MYC gene; binds DNA non-specifically. Exhibits histidine protein kinase activity; NME/NM23 family 9606.ENSP00000376893 IL1F10 152 Interleukin-1 family member 10; Cytokine with immunomodulatory activity. Alone, does not induce cytokine production, but reduces IL22 and IL17A production by T-cells in response to heat-killed Candida albicans. Reduces IL36G-induced production of IL8 by peripheral blood mononuclear cells. Increases IL6 production by dendritic cells stimulated by bacterial lipopolysaccharides (LPS). Ligand for IL-36R/IL1RL2; Belongs to the IL-1 family 9606.ENSP00000376896 IL36RN 155 Interleukin-36 receptor antagonist protein; Inhibits the activity of interleukin-36 (IL36A,IL36B and IL36G) by binding to receptor IL1RL2 and preventing its association with the coreceptor IL1RAP for signaling. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor. Proposed to play a role in skin inflammation. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus. May activate an anti-inflammatory si [...] 9606.ENSP00000376899 PTGFRN 879 Prostaglandin F2 receptor negative regulator; Inhibits the binding of prostaglandin F2-alpha (PGF2- alpha) to its specific FP receptor, by decreasing the receptor number rather than the affinity constant. Functional coupling with the prostaglandin F2-alpha receptor seems to occur (By similarity); CD molecules 9606.ENSP00000376902 BANP 519 Protein BANP; Controls V(D)J recombination during T-cell development by repressing T-cell receptor (TCR) beta enhancer function. Binds to scaffold/matrix attachment region beta (S/MARbeta), an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Represses cyclin D1 transcription by recruiting HDAC1 to its promoter, thereby diminishing H3K9ac, H3S10ph and H4K8ac levels. Promotes TP53 'Ser-15' phosphorylation and nuclear accumulation, which causes cell cycle arrest (By similarity); Belongs to the BANP/SMAR1 family 9606.ENSP00000376910 LRRIQ1 1722 Leucine rich repeats and IQ motif containing 1 9606.ENSP00000376911 LGMN 433 Legumain; Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system; Belongs to the peptidase C13 family 9606.ENSP00000376921 NTNG2 530 Netrin-G2; Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites; Netrins 9606.ENSP00000376924 NRF1 503 Nuclear respiratory factor 1; Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication 9606.ENSP00000376930 TMCC1 653 Transmembrane and coiled-coil domain containing 9606.ENSP00000376943 BCL2L11 198 Bcl-2-like protein 11; Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase-mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis; Belongs to the Bcl-2 family 9606.ENSP00000376945 FBXW9 458 F-box/WD repeat-containing protein 9; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and WD repeat domain containing 9606.ENSP00000376946 BBS10 723 Bardet-Biedl syndrome 10 protein; Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation; Belongs to the TCP-1 chaperonin family 9606.ENSP00000376952 EME1 583 Crossover junction endonuclease EME1; Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'- flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks; Belongs to the EME1/MMS4 family 9606.ENSP00000376955 DENND2C 928 DENN domain-containing protein 2C; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form; DENN/MADD domain containing 9606.ENSP00000376989 ZNF800 664 Zinc finger protein 800; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000376992 BCL2L15 163 Bcl-2-like protein 15; BCL2 like 15 9606.ENSP00000377001 SPOP 374 Speckle-type POZ protein; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of H2AFY and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING-base [...] 9606.ENSP00000377003 TSPAN8 237 Tetraspanin-8; Tetraspanin 8; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000377007 CENPN 353 Centromere protein N; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes o [...] 9606.ENSP00000377015 PICALM 652 Phosphatidylinositol-binding clathrin assembly protein; Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction; Belongs to the PICALM/SNAP91 family 9606.ENSP00000377024 CNOT6 557 CCR4-NOT transcription complex subunit 6; Poly(A) nuclease with 3'-5' RNase activity. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in mRNA decay mediated by the major-protein- coding determinant of instability (mCRD) of the FOS gene in the cytop [...] 9606.ENSP00000377027 TGFBRAP1 860 Transforming growth factor-beta receptor-associated protein 1; Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2 9606.ENSP00000377033 ATP5G1 136 ATP synthase F(0) complex subunit C1, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...] 9606.ENSP00000377036 PPP2R4 323 Serine/threonine-protein phosphatase 2A activator; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Acts as a regulatory subunit for serine/threonine- protein phosphatase 2A (PP2A) modulating its activity or substrate specificity, probably by inducing a conformational change in the catalytic subunit, a proposed direct target of the PPIase. Can reactivate inactive phosphatase PP2A-phosphatase methylesterase complexes (PP2A(i)) in presence of ATP and Mg(2+) (By similarity). Reversibly stimulates the var [...] 9606.ENSP00000377037 RASGEF1C 466 Ras-GEF domain-containing family member 1C; Guanine nucleotide exchange factor (GEF) 9606.ENSP00000377040 AASS 926 Alpha-aminoadipic semialdehyde synthase, mitochondrial; Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively 9606.ENSP00000377043 TTLL6 891 Tubulin polyglutamylase TTLL6; Polyglutamylase which preferentially modifies alpha- tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS/MB21D1, leading to impair the DNA-binding activity of CGAS/MB21D1; Tubulin tyrosine ligase family 9606.ENSP00000377047 PTPRZ1 2315 Receptor-type tyrosine-protein phosphatase zeta; Protein tyrosine phosphatase that negatively regulates oligodendrocyte precursor proliferation in the embryonic spinal cord. Required for normal differentiation of the precursor cells into mature, fully myelinating oligodendrocytes. May play a role in protecting oligondendrocytes against apoptosis. May play a role in the establishment of contextual memory, probably via the dephosphorylation of proteins that are part of important signaling cascades (By similarity); Belongs to the protein-tyrosine phosphatase family. Receptor class 5 subfamily 9606.ENSP00000377051 ANKRD42 389 Ankyrin repeat domain-containing protein 42; Protein phosphatase 1 regulatory subunits; Ankyrin repeat domain containing 9606.ENSP00000377055 PRCP 517 Lysosomal Pro-X carboxypeptidase; Cleaves C-terminal amino acids linked to proline in peptides such as angiotensin II, III and des-Arg9-bradykinin. This cleavage occurs at acidic pH, but enzymatic activity is retained with some substrates at neutral pH; M14 carboxypeptidases 9606.ENSP00000377059 SNX11 270 Sorting nexin-11; Phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes; Belongs to the sorting nexin family 9606.ENSP00000377060 CBX1 185 Chromobox protein homolog 1; Component of heterochromatin. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. Interaction with lamin B receptor (LBR) can contribute to the association of the heterochromatin with the inner nuclear membrane; Chromobox family 9606.ENSP00000377061 PLXNA1 1896 Plexin-A1; Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down- stream signaling events in the cytoplasm (By similarity) 9606.ENSP00000377075 RGL3 716 Ral guanine nucleotide dissociation stimulator-like 3; Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related protein M-Ras. Negatively regulates Elk-1-dependent gene induction downstream of HRas and MEKK1 (By similarity) 9606.ENSP00000377080 ZFP1 407 Zinc finger protein 1 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000377086 LONRF2 754 LON peptidase N-terminal domain and ring finger 2 9606.ENSP00000377112 SLC12A8 714 Solute carrier family 12 member 8; Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation; Solute carriers 9606.ENSP00000377115 LIPT1 373 Lipoyltransferase 1, mitochondrial; Catalyzes the transfer of the lipoyl group from lipoyl- AMP to the specific lysine residue of lipoyl domains of lipoate- dependent enzymes; Belongs to the LplA family 9606.ENSP00000377123 TSGA10 698 Testis-specific gene 10 protein; May play a role in the sperm tail fibrous sheath, a major sperm tail structure; Belongs to the CEP135/TSGA10 family 9606.ENSP00000377140 CNGA3 694 Cyclic nucleotide-gated cation channel alpha-3; Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evok [...] 9606.ENSP00000377148 AP1G1 825 AP-1 complex subunit gamma-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules 9606.ENSP00000377170 ANKRD39 183 Ankyrin repeat domain-containing protein 39; Ankyrin repeat domain containing; Belongs to the ANKRD39 family 9606.ENSP00000377171 ZNF359 643 Zinc finger protein 23; May be involved in transcriptional regulation. May have a role in embryonic development; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000377176 SPATA7 599 Spermatogenesis-associated protein 7; Involved in photoreceptor cells maintenance (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity) 9606.ENSP00000377192 G6PD 545 Glucose-6-phosphate 1-dehydrogenase; Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis; Belongs to the glucose-6-phosphate dehydrogenase family 9606.ENSP00000377197 HYDIN 5121 Hydrocephalus-inducing protein homolog; Required for ciliary motility; Protein phosphatase 1 regulatory subunits 9606.ENSP00000377218 IRF2 349 Interferon regulatory factor 2; Specifically binds to the upstream regulatory region of type I IFN and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) and represses those genes. Also acts as an activator for several genes including H4 and IL7. Constitutively binds to the ISRE promoter to activate IL7. Involved in cell cycle regulation through binding the site II (HiNF-M) promoter region of H4 and activating transcription during cell growth. Antagonizes IRF1 transcriptional activation 9606.ENSP00000377224 CDKN2D 166 Cyclin-dependent kinase 4 inhibitor D; Interacts strongly with CDK4 and CDK6 and inhibits them; Belongs to the CDKN2 cyclin-dependent kinase inhibitor family 9606.ENSP00000377225 FAM50A 339 Protein FAM50A; May be a DNA-binding protein or transcriptional factor; Spliceosomal C complex 9606.ENSP00000377233 ARAP1 1450 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Has a preference for ARF1 and ARF5 (By similarity); Ankyrin repeat domain containing 9606.ENSP00000377250 MON2 1717 Protein MON2 homolog; May be required for traffic between late Golgi and early endosomes; Armadillo-like helical domain containing 9606.ENSP00000377257 ST3GAL2 350 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2; Responsible for the synthesis of the sequence NeuAc- alpha-2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values; Belongs to the glycosyltransferase 29 family 9606.ENSP00000377262 SRPK2 699 SRSF protein kinase 2; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splicing factors and the regulation of splicing. Promotes neuronal apoptosis by up-regulating cyclin-D1 (CCND1) expression. This is done by the phosphorylation of SRSF2, leading to the suppression of p53/TP53 phosphorylation thereby relieving the repressive effect of p53/TP53 on cyclin-D1 (CCND1) expression. Phosphorylates ACIN1, and [...] 9606.ENSP00000377265 TFAP2B 460 Transcription factor AP-2-beta; Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and f [...] 9606.ENSP00000377275 GOLGB1 3269 Golgin subfamily B member 1; May participate in forming intercisternal cross-bridges of the Golgi complex 9606.ENSP00000377280 FBXO8 319 F-box only protein 8; May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential); F-boxes other 9606.ENSP00000377282 ZFYVE27 411 Protrudin; Key regulator of RAB11-dependent vesicular trafficking during neurite extension through polarized membrane transport. Promotes axonal elongation and contributes to the establishment of neuronal cell polarity (By similarity). Involved in nerve growth factor-induced neurite formation in VAPA- dependent manner. Contributes to both the formation and stabilization of the tubular ER network. Involved in ER morphogenesis by regulating the sheet-to-tubule balance and possibly the density of tubule interconnections. Acts as an adapter protein and facilitates the interaction of KIF5A [...] 9606.ENSP00000377284 FOLR1 257 Folate receptor alpha; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. Required for normal embryonic development and normal cell proliferation 9606.ENSP00000377298 NUMA1 2115 Nuclear mitotic apparatus protein 1; Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division. Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles. Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner. In metaphase, part of a ternary complex composed of GPSM2 and G(i) a [...] 9606.ENSP00000377303 RENBP 427 N-acylglucosamine 2-epimerase; Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded; Belongs to the N-acylglucosamine 2-epimerase family 9606.ENSP00000377311 FDX1L 183 Ferredoxin-2, mitochondrial; Essential for heme A and Fe/S protein biosynthesis; Belongs to the adrenodoxin/putidaredoxin family 9606.ENSP00000377344 DDX60 1712 Probable ATP-dependent RNA helicase DDX60; Positively regulates DDX58/RIG-I- and IFIH1/MDA5- dependent type I interferon and interferon inducible gene expression in response to viral infection. Binds ssRNA, dsRNA and dsDNA and can promote the binding of DDX58/RIG-I to dsRNA. Exhibits antiviral activity against hepatitis C virus and vesicular stomatitis virus (VSV); Belongs to the helicase family 9606.ENSP00000377353 DRD1 446 D(1A) dopamine receptor; Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000377357 ZDHHC16 377 Palmitoyltransferase ZDHHC16; Palmitoyl acyltransferase that mediates palmitoylation of proteins such as PLN and ZDHHC6. Required during embryonic heart development and cardiac function, possibly by mediating palmitoylation of PLN, thereby affecting PLN phosphorylation and homooligomerization (By similarity). Also required for eye development (By similarity). Palmitoylates ZDHHC6, affecting the quaternary assembly of ZDHHC6, its localization, stability and function. May play a role in DNA damage response (By similarity). May be involved in apoptosis regulation (By similarity). Involved [...] 9606.ENSP00000377369 LRRC74A 488 Leucine-rich repeat-containing protein 74A; Leucine rich repeat containing 74A 9606.ENSP00000377370 IGSF11 431 Immunoglobulin superfamily member 11; Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth; I-set domain containing 9606.ENSP00000377372 GAP43 274 Neuromodulin; This protein is associated with nerve growth. It is a major component of the motile "growth cones" that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction 9606.ENSP00000377374 ERGIC1 290 Endoplasmic reticulum-Golgi intermediate compartment protein 1; Possible role in transport between endoplasmic reticulum and Golgi 9606.ENSP00000377380 ARHGAP9 731 Rho GTPase-activating protein 9; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate; Pleckstrin homology domain containing 9606.ENSP00000377381 UBTD2 234 Ubiquitin domain containing 2 9606.ENSP00000377384 PSMC3IP 217 Homologous-pairing protein 2 homolog; Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1- promoted homologous pairing. May inhibit HIV-1 viral protei [...] 9606.ENSP00000377385 ENSG00000243207 794 PPAN-P2RY11 readthrough; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000377390 PPP6R3 879 Serine/threonine-protein phosphatase 6 regulatory subunit 3; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance; Belongs to the SAPS family 9606.ENSP00000377396 FAM198B 527 Protein FAM198B; Family with sequence similarity 198 member B; Belongs to the FAM198 family 9606.ENSP00000377401 SLC35B2 432 Adenosine 3'-phospho 5'-phosphosulfate transporter 1; Mediates the transport of adenosine 3'-phospho 5'- phosphosulfate (PAPS), from cytosol into Golgi. PAPS is a universal sulfuryl donor for sulfation events that take place in the Golgi. May indirectly participate in activation of the NF- kappa-B and MAPK pathways; Solute carriers 9606.ENSP00000377411 NDUFA4L2 87 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2; NDUFA4, mitochondrial complex associated like 2 9606.ENSP00000377424 SLC29A1 456 Equilibrative nucleoside transporter 1; Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). It is sensitive (ES) to low concentrations of the inhibitor nitrobenzylmercaptopurine riboside (NBMPR) and is sodium-independent. It has a higher affinity for adenosine. Inhibited by dipyridamole and dilazep (anticancer chemotherapeutics drugs); Blood group antigens 9606.ENSP00000377428 CFAP44 1854 Cilia and flagella associated protein 44; Belongs to the CFAP44 family 9606.ENSP00000377446 SUCLG1 346 Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits 9606.ENSP00000377456 REG3A 175 Regenerating islet-derived protein 3-alpha; Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Regulates keratinocyte proliferation and differentiation after skin injury via activation of EXTL3-PI3K-AKT signaling pathway 9606.ENSP00000377470 CNP 421 2',3'-cyclic-nucleotide 3'-phosphodiesterase; May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin 9606.ENSP00000377471 CORO1B 489 Coronin-1B; Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity); Coronins 9606.ENSP00000377478 MAGEA12 314 Melanoma-associated antigen 12; Not known, though may play a role tumor transformation or progression. In vitro promotes cell viability in melanoma cell lines; MAGE family 9606.ENSP00000377486 MRPL19 292 Mitochondrial ribosomal protein L19; Belongs to the bacterial ribosomal protein bL19 family 9606.ENSP00000377492 HMMR 725 Hyaluronan mediated motility receptor; Receptor for hyaluronic acid (HA) (By similarity). Involved in cell motility (By similarity). When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including PTK2/FAK1 occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular- regulated kinase (ERK) activity. May act as a regulator of adipogenisis (By similarity); CD molecules 9606.ENSP00000377494 TAGLN3 199 Transgelin-3; Transgelin 3 9606.ENSP00000377504 ZNF414 390 Zinc finger protein 414; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000377508 JUP 745 Junction plakoglobin; Common junctional plaque protein. The membrane- associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhes [...] 9606.ENSP00000377520 SYT12 421 Synaptotagmin-12; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis; Synaptotagmins 9606.ENSP00000377522 MOSPD3 235 Motile sperm domain containing 3 9606.ENSP00000377532 PC 1178 Pyruvate carboxylase, mitochondrial; Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate 9606.ENSP00000377536 PTTG1 202 Securin; Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity a [...] 9606.ENSP00000377545 C1QTNF2 330 Complement C1q tumor necrosis factor-related protein 2; C1q and TNF related 2 9606.ENSP00000377547 CCNJL 435 Cyclin-J-like protein; Cyclin J like; Cyclins 9606.ENSP00000377549 FABP6 177 Gastrotropin; Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (By similarity). In vitro binds to bile acids in the order: deoxycholic acid > cholic acid > chenodeoxycholic acid and respective BA conjugation modifies affinities in the order taurine-conjugated > glycine-conjugated > unconjugated bile acids. Stimulates gastric acid and pepsinogen secretion (By similarity); Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family 9606.ENSP00000377558 KRT35 455 Keratin, type I cuticular Ha5; Keratins, type I 9606.ENSP00000377566 ELMO3 773 Engulfment and cell motility protein 3; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity) 9606.ENSP00000377570 KRT34 436 Keratin, type I cuticular Ha4; Keratins, type I 9606.ENSP00000377576 KRTAP9-9 169 Keratin associated protein 9-9 9606.ENSP00000377577 CCDC176 529 Basal body-orientation factor 1; Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity) 9606.ENSP00000377582 KRTAP4-12 201 Keratin-associated protein 4-12; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000377583 KRTAP2-4 128 Keratin-associated protein 2-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000377601 HELLS 884 Lymphoid-specific helicase; Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity) 9606.ENSP00000377616 KRT222 295 Keratin-like protein KRT222; Keratins, type II 9606.ENSP00000377617 MTHFD2 350 Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial; Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency; Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family 9606.ENSP00000377633 STAMBP 424 STAM-binding protein; Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degr [...] 9606.ENSP00000377640 RPL24 157 Ribosomal protein L24; Belongs to the eukaryotic ribosomal protein eL24 family 9606.ENSP00000377655 SENP7 1050 Sentrin-specific protease 7; Protease that deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1. Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains. Has very low efficiency in processing full- length SUMO proteins to their mature forms; SUMO specific peptidases 9606.ENSP00000377664 GAPVD1 1478 GTPase-activating protein and VPS9 domain-containing protein 1; Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside th [...] 9606.ENSP00000377668 SUOX 545 Sulfite oxidase, mitochondrial; Sulfite oxidase 9606.ENSP00000377681 G3BP1 466 Ras GTPase-activating protein-binding protein 1; May be a regulated effector of stress granule assembly. Phosphorylation-dependent sequence-specific endoribonuclease in vitro. Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially at the 3'-UTR. ATP- and magnesium- dependent helicase. Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends. Unwinds DNA/DNA, RNA/DNA, and RNA/RNA substrates with comparable efficiency. Acts unidirectionally by moving in the 5' to [...] 9606.ENSP00000377686 MED24 989 Mediator of RNA polymerase II transcription subunit 24; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000377690 TTC23 447 Tetratricopeptide repeat domain containing 9606.ENSP00000377696 NIT2 276 Omega-amidase NIT2; Has a omega-amidase activity. The role of omega-amidase is to remove potentially toxic intermediates by converting alpha- ketoglutaramate and alpha-ketosuccinamate to biologically useful alpha-ketoglutarate and oxaloacetate, respectively. Overexpression decreases the colony-forming capacity of cultured cells by arresting cells in the G2 phase of the cell cycle 9606.ENSP00000377699 GPR112 3080 Adhesion G-protein coupled receptor G4; Orphan receptor; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000377700 TBC1D23 699 TBC1 domain family member 23; Putative Rab GTPase-activating protein which plays a role in vesicular trafficking. Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity). May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but inste [...] 9606.ENSP00000377708 ZSCAN25 544 Zinc finger and SCAN domain-containing protein 25; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000377710 FHL1 323 Four and a half LIM domains protein 1; May have an involvement in muscle development or hypertrophy; LIM domain containing 9606.ENSP00000377721 NR2F2 414 COUP transcription factor 2; Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A; Nuclear hormone receptors 9606.ENSP00000377724 ORMDL3 153 ORM1-like protein 3; Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling; Belongs to the ORM family 9606.ENSP00000377725 ZKSCAN5 839 Zinc finger protein with KRAB and SCAN domains 5; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000377747 ENSG00000173575 1828 Chromodomain-helicase-DNA-binding protein 2; DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity) 9606.ENSP00000377768 DHFRL1 187 Dihydrofolate reductase 2, mitochondrial; Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Binds its own mRNA and that of DHFR 9606.ENSP00000377769 ARL13B 428 ADP-ribosylation factor-like protein 13B; Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interne [...] 9606.ENSP00000377771 SIPA1 1042 Signal-induced proliferation-associated protein 1; GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state. Affects cell cycle progression (By similarity); PDZ domain containing 9606.ENSP00000377778 MIEN1 115 Migration and invasion enhancer 1; Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process; Belongs to the SelWTH family 9606.ENSP00000377779 SV2B 683 Synaptic vesicle glycoprotein 2B; Probably plays a role in the control of regulated secretion in neural and endocrine cells 9606.ENSP00000377782 ELF2 581 ETS-related transcription factor Elf-2; Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter; ETS transcription factor family 9606.ENSP00000377783 PROS1 676 Vitamin K-dependent protein S; Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis; Gla domain containing 9606.ENSP00000377784 GUCA1A 201 Guanylyl cyclase-activating protein 1; Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure; EF-hand domain containing 9606.ENSP00000377789 SYNPO 929 Synaptopodin; Actin-associated protein that may play a role in modulating actin-based shape and motility of dendritic spines and renal podocyte foot processes. Seems to be essential for the formation of spine apparatuses in spines of telencephalic neurons, which is involved in synaptic plasticity (By similarity); Belongs to the synaptopodin family 9606.ENSP00000377793 PRC1 620 Protein regulator of cytokinesis 1; Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localization to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression; Belongs to the MAP65/ASE1 family 9606.ENSP00000377796 METTL7B 244 Methyltransferase-like protein 7B; Probable methyltransferase 9606.ENSP00000377797 USP49 688 Ubiquitin carboxyl-terminal hydrolase 49; Specifically deubiquitinates histone H2B at 'Lys-120' (H2BK120Ub). H2BK120Ub is a specific tag for epigenetic transcriptional activation and acts as a regulator of mRNA splicing. Deubiquitination is required for efficient cotranscriptional splicing of a large set of exons; Belongs to the peptidase C19 family 9606.ENSP00000377799 OR6C4 309 Olfactory receptor 6C4; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000377801 RCCD1 376 RCC1 domain-containing protein 1; Acts as a coregulator of KDM8 to promote histone demethylase activity on di- and trimethylated 'Lys-36' (H3K36me2/me3) of histone H3. Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8. Possibly together with KDM8, involved in proper mitotic spindle organization and chromosome segregation. Plays a role in regulating alpha- tubulin deacetylation and cytoskeletal microtubule stability and thereby promoting cell migration and TGF-beta-induced epithelial [...] 9606.ENSP00000377806 OEBT 384 Prickle planar cell polarity protein 4; Belongs to the prickle / espinas / testin family 9606.ENSP00000377807 FAM122A 287 Protein FAM122A; Family with sequence similarity 122A 9606.ENSP00000377814 HDDC3 179 Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1; ppGpp hydrolyzing enzyme involved in starvation response 9606.ENSP00000377823 NDRG4 391 Protein NDRG4; Contributes to the maintenance of intracerebral BDNF levels within the normal range, which is necessary for the preservation of spatial learning and the resistance to neuronal cell death caused by ischemic stress (By similarity). May enhance growth factor-induced ERK1 and ERK2 phosphorylation, including that induced by PDGF and FGF. May attenuate NGF-promoted ELK1 phosphorylation in a microtubule-dependent manner 9606.ENSP00000377833 ANXA4 321 Annexin A4; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis; Annexins 9606.ENSP00000377836 GPC3 603 Glypican-3; Cell surface proteoglycan that bears heparan sulfate. Inhibits the dipeptidyl peptidase activity of DPP4. May be involved in the suppression/modulation of growth in the predominantly mesodermal tissues and organs. May play a role in the modulation of IGF2 interactions with its receptor and thereby modulate its function. May regulate growth and tumor predisposition; Glypicans 9606.ENSP00000377840 CACNB1 598 Voltage-dependent L-type calcium channel subunit beta-1; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting 9606.ENSP00000377854 LHX6 392 LIM/homeobox protein Lhx6; Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex (By similarity); LIM class homeoboxes 9606.ENSP00000377862 FAT4 4981 Protocadherin Fat 4; Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity) 9606.ENSP00000377867 MST4 416 Serine/threonine-protein kinase 26; Mediator of cell growth. Modulates apoptosis. In association with STK24 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily 9606.ENSP00000377878 ATP5G2 198 ATP synthase F(0) complex subunit C2, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanis [...] 9606.ENSP00000377895 FBXO38 1113 F-box only protein 38; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not seem to promote KLF7 ubiquitination (By similarity); F-boxes other 9606.ENSP00000377900 LIPF 408 Lipase F, gastric type; Lipases 9606.ENSP00000377914 CIAPIN1 312 Anamorsin; Has anti-apoptotic effects in the cell. Involved in negative control of cell death upon cytokine withdrawal. Promotes development of hematopoietic cells (By similarity). Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis. Electrons are transferred to the Fe-S cluster from NADPH via the FAD- and FMN-containing protein NDOR1 9606.ENSP00000377934 KIF7 1343 Kinesin-like protein KIF7; Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms. Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the trans [...] 9606.ENSP00000377936 PPP2R2B 509 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (By similarity) 9606.ENSP00000377941 ACTN1 914 Alpha-actinin-1; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein; Belongs to the alpha-actinin family 9606.ENSP00000377944 UTP14A 771 U3 small nucleolar RNA-associated protein 14 homolog A; May be required for ribosome biogenesis 9606.ENSP00000377948 QRFPR 431 Pyroglutamylated RFamide peptide receptor; Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels 9606.ENSP00000377954 LARS 1176 Leucine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000377958 CCT4 539 T-complex protein 1 subunit delta; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin; Chaperonins 9606.ENSP00000377969 GTF2F1 517 General transcription factor IIF subunit 1; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation; Belongs to the TFIIF alpha subunit family 9606.ENSP00000377970 AHSA2 137 Activator of 90 kDa heat shock protein ATPase homolog 2; Co-chaperone that stimulates HSP90 ATPase activity 9606.ENSP00000377971 ANKLE1 669 Ankyrin repeat and LEM domain-containing protein 1; Endonuclease that probably plays a role in the DNA damage response and DNA repair; Ankyrin repeat domain containing 9606.ENSP00000377995 MT1X 61 Metallothionein-1X; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. May be involved in FAM168A anti-apoptotic signaling 9606.ENSP00000378015 KRIT1 736 Krev interaction trapped protein 1; Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and va [...] 9606.ENSP00000378028 RNF14 474 E3 ubiquitin-protein ligase RNF14; Might act as an E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates, which could be nuclear proteins. Could play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription; Belongs to the RBR family. RNF14 subfamily 9606.ENSP00000378040 BAD 168 Bcl2-associated agonist of cell death; Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways 9606.ENSP00000378046 FKBP2 142 Peptidyl-prolyl cis-trans isomerase FKBP2; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; FKBP prolyl isomerases 9606.ENSP00000378050 TRPT1 255 tRNA 2'-phosphotransferase 1; Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1''-2'' cyclic phosphate; Belongs to the KptA/TPT1 family 9606.ENSP00000378053 DNASE1L3 305 Deoxyribonuclease gamma; Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA. Acts in internucleosomal DNA fragmentation (INDF) during apoptosis and necrosis. The role in apoptosis includes myogenic and neuronal differentiation, and BCR-mediated clonal deletion of self-reactive B cells (By similarity). Is active on chromatin in apoptotic cell-derived membrane-coated microparticles and thus suppresses ant [...] 9606.ENSP00000378058 EFEMP1 493 EGF-containing fibulin-like extracellular matrix protein 1; Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth; Belongs to the fibulin family 9606.ENSP00000378063 SLFN12 578 Schlafen family member 12; Belongs to the Schlafen family 9606.ENSP00000378067 SLFN11 901 Schlafen family member 11; Interferon (IFN)-induced antiviral protein which acts as an inhibitor of retrovirus protein synthesis. Specifically abrogates the production of retroviruses such as human immunodeficiency virus 1 (HIV-1) by acting as a specific inhibitor of the synthesis of retroviruses encoded proteins in a codon- usage-dependent manner. Binds to tRNAs and exploits the unique viral codon bias towards A/T nucleotides. The exact inhibition mechanism is unclear: may either sequesters tRNAs, prevents their maturation via post-transcriptional processing or accelerates their deacy [...] 9606.ENSP00000378072 PNPLA1 532 Patatin-like phospholipase domain-containing protein 1; Lipid hydrolase. Important in the formation of the epidermal lipid barrier. Plays a role in glycerophospholipid metabolism; Patatin like phospholipase domain containing 9606.ENSP00000378074 SLC28A1 649 Sodium/nucleoside cotransporter 1; Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine nucleosides and adenosine). It also transports the antiviral pyrimidine nucleoside analogs 3'-azido-3'-deoxythymidine (AZT) and 2',3'-dideoxycytidine (ddC). It may be involved in the intestinal absorption and renal handling of pyrimidine nucleoside analogs used to treat acquired immunodeficiency syndrome (AIDS). It has the following selective inhibition: adenosine, thymidine, cytidine [...] 9606.ENSP00000378077 PCDHGA2 932 Protocadherin gamma-A2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000378089 NMB 154 Neuromedin-B; Stimulates smooth muscle contraction in a manner similar to that of bombesin; Belongs to the bombesin/neuromedin-B/ranatensin family 9606.ENSP00000378105 ELOVL6 265 Elongation of very long chain fatty acids protein 6; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May part [...] 9606.ENSP00000378118 CCL8 99 C-C motif chemokine 8; Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils. May play a role in neoplasia and inflammatory host responses. This protein can bind heparin. The processed form MCP-2(6-76) does not show monocyte chemotactic activity, but inhibits the chemotactic effect most predominantly of CCL7, and also of CCL2 and CCL5 and CCL8; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000378119 STEAP2 490 Metalloreductase STEAP2; Metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+). Uses NAD(+) as acceptor (By similarity); STEAP family 9606.ENSP00000378130 CFI 583 Complement factor I; Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively; Belongs to the peptidase S1 family 9606.ENSP00000378132 IRX5 483 Iroquois-class homeodomain protein IRX-5; Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads [...] 9606.ENSP00000378145 CCDC109B 336 Calcium uniporter regulatory subunit MCUb, mitochondrial; Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways 9606.ENSP00000378152 AKTIP 292 AKT-interacting protein; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade; Ubiquitin conjugating enzymes E2 9606.ENSP00000378161 ACYP2 99 Acylphosphatase-2; Its physiological role is not yet clear 9606.ENSP00000378163 RPL34 117 60S ribosomal protein L34; Component of the large ribosomal subunit 9606.ENSP00000378165 ZNF207 494 BUB3-interacting and GLEBS motif-containing protein ZNF207; Kinetochore- and microtubule-binding protein that plays a key role in spindle assembly. ZNF207/BuGZ is mainly composed of disordered low-complexity regions and undergoes phase transition or coacervation to form temperature-dependent liquid droplets. Coacervation promotes microtubule bundling and concentrates tubulin, promoting microtubule polymerization and assembly of spindle and spindle matrix by concentrating its building blocks. Also acts as a regulator of mitotic chromosome alignment by mediating the stability and kinetoc [...] 9606.ENSP00000378167 CCDC66 948 Coiled-coil domain containing 66 9606.ENSP00000378176 SGMS2 365 Phosphatidylcholine:ceramide cholinephosphotransferase 2; Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signa [...] 9606.ENSP00000378177 CEMIP 1361 Cell migration-inducing and hyaluronan-binding protein; Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial- mesenchymal transition (EMT), and hence tu [...] 9606.ENSP00000378181 BRD7 652 Bromodomain-containing protein 7; Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signaling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity. Induces dephosphorylation of GSK3B at 'Tyr-216'. Down-regulates TRIM24-mediated activation of transcriptional activation by AR (By similarity). Transcriptional corepressor that down-regulates the expression of target genes. Binds to target promoters, leading to increased histone H3 acetylation at 'Lys-9' (H3K9ac). Binds to the ESR1 promoter [...] 9606.ENSP00000378187 ADCY7 1080 Adenylate cyclase type 7; This is a membrane-bound, calcium-inhibitable adenylyl cyclase; Adenylate cyclases 9606.ENSP00000378191 AIMP1 336 Aminoacyl tRNA synthase complex-interacting multifunctional protein 1; Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation. Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels. Promotes dermal fibroblast proliferation and wound repair. Regulates KDELR1- mediated retention of HSP90B1 [...] 9606.ENSP00000378193 DMTF1 760 Cyclin-D-binding Myb-like transcription factor 1; Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1; Myb/SANT domain containing 9606.ENSP00000378195 GPR75 540 Probable G-protein coupled receptor 75; G protein-coupled receptor that is activated by the chemokine CCL5/RANTES. Probably coupled to heterotrimeric Gq proteins, it stimulates inositol trisphosphate production and calcium mobilization upon activation. Together with CCL5/RANTES, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. CCL5/RANTES may also regulate insulin secretion by pancreatic islet cells through activation of this receptor 9606.ENSP00000378199 HSPA2 639 Heat shock-related 70 kDa protein 2; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis [...] 9606.ENSP00000378207 AKAP5 427 A-kinase anchor protein 5; May anchor the PKA protein to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors. Association with to the beta2-adrenergic receptor (beta2-AR) not only regulates beta2-AR signaling pathway, but also the activation by PKA by switching off the beta2-AR signaling cascade; A-kinase anchoring proteins 9606.ENSP00000378217 PRKCD 676 Protein kinase C delta type; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti-apoptotic protein during cytokine receptor- initiated cell death, is involved in tumor suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regulator in platelet functional responses. Negatively regulates B c [...] 9606.ENSP00000378230 ABCC11 1382 ATP-binding cassette sub-family C member 11; Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides. Enhances the cellular extrusion of cAMP and cGMP. Stimulates the ATP-dependent uptake of a range of physiological and synthetic lipophilic anions, including the glutathione S- conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D- glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taur [...] 9606.ENSP00000378235 SFMBT1 866 Scm-like with four MBT domains protein 1; Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis; [...] 9606.ENSP00000378236 ENSG00000068781 1182 Uncharacterized protein ALF; STON1-GTF2A1L readthrough 9606.ENSP00000378248 CXXC4 367 CXXC-type zinc finger protein 4; Acts as a negative regulator of the Wnt signaling pathway via its interaction with DVL1; Zinc fingers CXXC-type 9606.ENSP00000378254 EML3 896 Echinoderm microtubule-associated protein-like 3; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic; WD repeat domain containing 9606.ENSP00000378260 ALG13 1137 Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13; Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities; Belongs to the glycosyltransferase 28 family 9606.ENSP00000378265 SLC9B2 537 Sodium/hydrogen exchanger 9B2; Na(+)/H(+) antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane. Contributes to the regulation of intracellular pH, sodium homeostasis, and cell volume. Plays an important role for insulin secretion and clathrin-mediated endocytosis in beta- cells (By similarity). Involved in sperm motility and fertility (By similarity). It is controversial whether SLC9B2 plays a role in osteoclast differentiation or not (By similarity); Solute carriers 9606.ENSP00000378275 PAIP2 127 Polyadenylate-binding protein-interacting protein 2; Acts as a repressor in the regulation of translation initiation of poly(A)-containing mRNAs. Its inhibitory activity on translation is mediated via its action on PABPC1. Displaces the interaction of PABPC1 with poly(A) RNA and competes with PAIP1 for binding to PABPC1. Its association with PABPC1 results in disruption of the cytoplasmic poly(A) RNP structure organization 9606.ENSP00000378286 ZBTB3 574 Zinc finger and BTB domain-containing protein 3; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000378288 MYLK3 819 Myosin light chain kinase 3; Kinase that phosphorylates MYL2 in vitro. Promotes sarcomere formation in cardiomyocytes and increases cardiomyocyte contractility (By similarity) 9606.ENSP00000378289 SYNPO2L 977 Synaptopodin 2-like protein; Actin-associated protein that may play a role in modulating actin-based shape; PDZ domain containing 9606.ENSP00000378292 KRT80 452 Keratin, type II cytoskeletal 80; Keratins, type II 9606.ENSP00000378294 SIL1 461 Nucleotide exchange factor SIL1; Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5; Belongs to the SIL1 family 9606.ENSP00000378295 INCENP 918 Inner centromere protein; Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Acts as a scaffold regulating CPC localization and activity. The C-terminus associates with AURKB or AURKC, the N-terminus associated with BIRC5/survivin and CDCA8/borealin tethers the CPC to the inner centromere, and the microtubule binding activity within th [...] 9606.ENSP00000378306 PPP3CB 525 Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin 9606.ENSP00000378307 PBRM1 1582 Protein polybromo-1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation; Bromodomain containing 9606.ENSP00000378310 SLC39A8 460 Zinc transporter ZIP8; Acts as a manganese and zinc influx transporter. Plays a role in manganese reabsorption in the proximal tubule of the kidney and in manganese uptake into the brain; Belongs to the ZIP transporter (TC 2.A.5) family 9606.ENSP00000378312 EFCAB5 1503 EF-hand calcium-binding domain-containing protein 5; EF-hand calcium binding domain 5 9606.ENSP00000378313 RAB3IL1 382 Guanine nucleotide exchange factor for Rab-3A; Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B; Belongs to the SEC2 family 9606.ENSP00000378320 TTC7A 882 Tetratricopeptide repeat protein 7A; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions (By similarity) 9606.ENSP00000378323 PPP3CA 521 Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase. Many of the substrates contain a PxIxIT motif. This subunit may have a role in the calmodulin activation of calcineurin. Dephosphorylates DNM1L, HSPB1 and SSH1; Belongs to the PPP phosphatase family. PP-2B subfamily 9606.ENSP00000378324 DNAJA4 426 DnaJ heat shock protein family member A4 9606.ENSP00000378326 ZP3 424 Zona pellucida sperm-binding protein 3; The mammalian zona pellucida, which mediates species- specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP3 is essential for sperm binding and zona matrix formation; Belongs to the ZP domain family. ZPC subfamily 9606.ENSP00000378328 ANKRD13B 626 Ankyrin repeat domain-containing protein 13B; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand- activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane; Ankyrin repeat domain containing 9606.ENSP00000378332 TGFB1I1 461 Transforming growth factor beta-1-induced transcript 1 protein; Functions as a molecular adapter coordinating multiple protein-protein interactions at the focal adhesion complex and in the nucleus. Links various intracellular signaling modules to plasma membrane receptors and regulates the Wnt and TGFB signaling pathways. May also regulate SLC6A3 and SLC6A4 targeting to the plasma membrane hence regulating their activity. In the nucleus, functions as a nuclear receptor coactivator regulating glucocorticoid, androgen, mineralocorticoid and progesterone receptor transcriptional activity. [...] 9606.ENSP00000378338 GIT1 770 ARF GTPase-activating protein GIT1; GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine- phosphorylated paxillin in cytoplasmic complexes. Involved in the regulation of cytokinesis; the function may involve SDCCAG3 and [...] 9606.ENSP00000378340 COL4A6 1707 Collagen alpha-6(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen 9606.ENSP00000378350 CDC23 597 Cell division cycle protein 23 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains; Belongs to the APC8/CDC23 family 9606.ENSP00000378356 KIF20A 890 Kinesin-like protein KIF20A; Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility; Kinesins 9606.ENSP00000378359 ADH6 375 Alcohol dehydrogenase 6 9606.ENSP00000378360 DAK 575 Triokinase/FMN cyclase; Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response 9606.ENSP00000378364 SLC11A2 590 Natural resistance-associated macrophage protein 2; Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria; Belongs to the NRAMP family 9606.ENSP00000378365 CCL26 94 C-C motif chemokine 26; Chemoattractant for eosinophils and basophils. Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000378367 NRG4 115 Pro-neuregulin-4, membrane-bound isoform; Low affinity ligand for the ERBB4 tyrosine kinase receptor. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. Does not bind to the ERBB1, ERBB2 and ERBB3 receptors (By similarity) 9606.ENSP00000378368 FLOT2 428 Flotillin-2; May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. May be involved in epidermal cell adhesion and epidermal structure and function; Belongs to the band 7/mec-2 family. Flotillin subfamily 9606.ENSP00000378394 PSAP 524 Prosaposin; Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases; Endogenous ligands 9606.ENSP00000378399 WDR89 387 WD repeat-containing protein 89; WD repeat domain containing 9606.ENSP00000378400 LIMA1 760 LIM domain and actin-binding protein 1; Binds to actin monomers and filaments. Increases the number and size of actin stress fibers and inhibits membrane ruffling. Inhibits actin filament depolymerization. Bundles actin filaments, delays filament nucleation and reduces formation of branched filaments; LIM domain containing 9606.ENSP00000378401 SPOCK1 439 Testican-1; May play a role in cell-cell and cell-matrix interactions. May contribute to various neuronal mechanisms in the central nervous system; SPARC family 9606.ENSP00000378402 SIN3A 1273 Paired amphipathic helix protein Sin3a; Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in he control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates wit [...] 9606.ENSP00000378405 BCKDK 412 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex 9606.ENSP00000378408 GPT 496 Alanine aminotransferase 1; Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity); Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily 9606.ENSP00000378409 C10orf54 311 V-type immunoglobulin domain-containing suppressor of T-cell activation; Immunoregulatory receptor which inhibits the T-cell response. May promote differentiation of embryonic stem cells, by inhibiting BMP4 signaling (By similarity). May stimulate MMP14-mediated MMP2 activation 9606.ENSP00000378414 SMARCD1 515 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). Du [...] 9606.ENSP00000378416 ALAS1 640 5-aminolevulinate synthase, nonspecific, mitochondrial; 5'-aminolevulinate synthase 1; Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000378418 SP9 484 Transcription factor Sp9; Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity); Sp transcription factors 9606.ENSP00000378426 VKORC1 163 Vitamin K epoxide reductase complex subunit 1; Involved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development 9606.ENSP00000378427 C5orf24 188 UPF0461 protein C5orf24; Chromosome 5 open reading frame 24; Belongs to the UPF0461 family 9606.ENSP00000378431 MMRN1 1228 Multimerin-1; Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein; EMI domain containing 9606.ENSP00000378464 CPLX3 158 Complexin-3; Positively regulates a late step in synaptic vesicle exocytosis; Belongs to the complexin/synaphin family 9606.ENSP00000378483 RGS19 217 Regulator of G-protein signaling 19; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G-alpha subfamily 1 members, with the order G(i)a3 > G(i)a1 > G(o)a >> G(z)a/G(i)a2. Activity on G(z)-alpha is inhibited by phosphorylation and palmitoylation of the G-protein 9606.ENSP00000378485 MATK 508 Megakaryocyte-associated tyrosine-protein kinase; Could play a significant role in the signal transduction of hematopoietic cells. May regulate tyrosine kinase activity of SRC-family members in brain by specifically phosphorylating their C-terminal regulatory tyrosine residue which acts as a negative regulatory site. It may play an inhibitory role in the control of T-cell proliferation 9606.ENSP00000378492 GRM2 872 Metabotropic glutamate receptor 2; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling inhibits adenylate cyclase activity. May mediate suppression of neurotransmission or may be involved in synaptogenesis or synaptic stabilization; Glutamate metabotropic receptors 9606.ENSP00000378503 ZBTB9 473 Zinc finger and BTB domain-containing protein 9; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000378504 NXF3 531 Nuclear RNA export factor 3; May function as a tissue-specific nuclear mRNA export factor 9606.ENSP00000378505 CLK3 638 Dual specificity protein kinase CLK3; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells; CDC like kinases 9606.ENSP00000378516 OR10W1 305 Olfactory receptor 10W1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000378517 SPP1 314 Osteopontin; Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction; Endogenous ligands 9606.ENSP00000378529 FZR1 496 Fizzy-related protein homolog; Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and [...] 9606.ENSP00000378536 ZBTB46 589 Zinc finger and BTB domain-containing protein 46; Function as a transcriptional repressor for PRDM1; BTB domain containing 9606.ENSP00000378548 GPR135 494 Probable G-protein coupled receptor 135; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000378557 DAAM1 1078 Disheveled-associated activator of morphogenesis 1; Binds to disheveled (Dvl) and Rho, and mediates Wnt- induced Dvl-Rho complex formation. May play a role as a scaffolding protein to recruit Rho-GDP and Rho-GEF, thereby enhancing Rho-GTP formation. Can direct nucleation and elongation of new actin filaments. Involved in building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells (By similarity); Belongs to the formin homology family 9606.ENSP00000378563 PFDN6 129 Prefoldin subunit 6; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins; Prefoldin subunits 9606.ENSP00000378570 SULT1A3 295 Sulfotransferase 1A3; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs 9606.ENSP00000378577 CLDN3 220 Claudin-3; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Belongs to the claudin family 9606.ENSP00000378578 AFF1 1218 AF4/FMR2 family member 1 9606.ENSP00000378588 TIMM9 89 Mitochondrial import inner membrane translocase subunit Tim9; Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space; Belongs to the small Tim family 9606.ENSP00000378605 DNAJC30 226 DnaJ heat shock protein family member C30 9606.ENSP00000378611 ARHGAP24 748 Rho GTPase-activating protein 24; Rho GTPase-activating protein involved in cell polarity, cell morphology and cytoskeletal organization. Acts as a GTPase activator for the Rac-type GTPase by converting it to an inactive GDP-bound state. Controls actin remodeling by inactivating Rac downstream of Rho leading to suppress leading edge protrusion and promotes cell retraction to achieve cellular polarity. Able to suppress RAC1 and CDC42 activity in vitro. Overexpression induces cell rounding with partial or complete disruption of actin stress fibers and formation of membrane ruffles, lamel [...] 9606.ENSP00000378624 HERC4 1057 Probable E3 ubiquitin-protein ligase HERC4; Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates 9606.ENSP00000378635 DRP2 957 Dystrophin-related protein 2; Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane- cytoskeleton interactions of the central nervous system; Zinc fingers ZZ-type 9606.ENSP00000378642 ZNF785 405 Zinc finger protein 785; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000378650 TBX6 436 T-box transcription factor TBX6; T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity); T-boxes 9606.ENSP00000378669 ALDOA 418 Fructose-bisphosphate aldolase A; Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity); Belongs to the class I fructose-bisphosphate aldolase family 9606.ENSP00000378687 POM121 999 Nuclear envelope pore membrane protein POM 121; Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL); Nucleoporins 9606.ENSP00000378690 CALN1 261 Calcium-binding protein 8; Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity (By similarity). May play a role in the physiology of neurons and is potentially important in memory and learning; EF-hand domain containing 9606.ENSP00000378699 CDK1 297 Cyclin-dependent kinase 1; Plays a key role in the control of the eukaryotic cell cycle by modulating the centrosome cycle as well as mitotic onset; promotes G2-M transition, and regulates G1 progress and G1-S transition via association with multiple interphase cyclins. Required in higher cells for entry into S-phase and mitosis. Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl- xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C, CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB, CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR, FANCG, FOS, [...] 9606.ENSP00000378704 BRD2 836 Bromodomain-containing protein 2; May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of the CCND1 gene. Plays a role in nucleosome assembly; Bromodomain containing, BET 9606.ENSP00000378710 FAM135B 1406 Protein FAM135B; Family with sequence similarity 135 member B 9606.ENSP00000378712 IZUMO4 232 Izumo sperm-egg fusion protein 4; IZUMO family member 4; Belongs to the Izumo family 9606.ENSP00000378721 SEC31A 1220 Protein transport protein Sec31A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity); WD repeat domain containing 9606.ENSP00000378725 KTN1 1357 Kinectin; Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin; Belongs to the kinectin family 9606.ENSP00000378733 LBH 105 Protein LBH; Transcriptional activator which may act in mitogen- activated protein kinase signaling pathway; Belongs to the LBH family 9606.ENSP00000378736 CRCP 148 DNA-directed RNA polymerase III subunit RPC9; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts induce type [...] 9606.ENSP00000378743 AK4 223 Adenylate kinase 4, mitochondrial; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Efficiently phosphorylates AMP and dAMP using ATP as phosphate donor, but phosphorylates only AMP when using GTP as phosphate donor. Also displays broad nucleoside diphosphate kinase activity; Belongs to the adenylate kinase family. AK3 subfamily 9606.ENSP00000378757 SLC16A9 509 Monocarboxylate transporter 9; Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane; Solute carriers 9606.ENSP00000378760 MVP 893 Major vault protein; Required for normal vault structure. Vaults are multi- subunit structures that may act as scaffolds for proteins involved in signal transduction. Vaults may also play a role in nucleo- cytoplasmic transport. Down-regulates IFNG-mediated STAT1 signaling and subsequent activation of JAK. Down-regulates SRC activity and signaling through MAP kinases 9606.ENSP00000378769 PPP1CB 327 Serine/threonine-protein phosphatase PP1-beta catalytic subunit; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progressi [...] 9606.ENSP00000378782 QPRT 297 Nicotinate-nucleotide pyrophosphorylase [carboxylating]; Involved in the catabolism of quinolinic acid (QA); Belongs to the NadC/ModD family 9606.ENSP00000378784 PHF20L1 1017 PHD finger protein 20 like 1 9606.ENSP00000378786 HLA-DRA 254 HLA class II histocompatibility antigen, DR alpha chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pre [...] 9606.ENSP00000378792 ZNF169 603 Zinc finger protein 169; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000378803 PAQR5 330 Membrane progestin receptor gamma; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(i) mediated pathway. May be involved in oocyte maturation; Progestin and adipoQ receptor family 9606.ENSP00000378812 CHCHD2 151 Coiled-coil-helix-coiled-coil-helix domain-containing protein 2; Transcription factor. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen), as well as normoxia conditions (20% oxygen); Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins 9606.ENSP00000378830 QRICH1 776 Glutamine-rich protein 1; Glutamine rich 1 9606.ENSP00000378845 LAT 269 Linker for activation of T cells 9606.ENSP00000378851 MAPK1IP1L 245 MAPK-interacting and spindle-stabilizing protein-like; Mitogen-activated protein kinase 1 interacting protein 1 like 9606.ENSP00000378854 PSPH 225 Phosphoserine phosphatase; Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates; HAD Asp-based non-protein phosphatases 9606.ENSP00000378855 SOCS4 440 Suppressor of cytokine signaling 4; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. Substrate-recognition component of a SCF-like ECS (Elongin BC- CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits EGF signaling by mediating the degradation of the Tyr-phosphorylated EGF receptor/EGFR; SH2 domain containing 9606.ENSP00000378856 LGALS9 355 Galectin-9; Binds galactosides. Has high affinity for the Forssman pentasaccharide. Ligand for HAVCR2/TIM3. Binding to HAVCR2 induces T-helper type 1 lymphocyte (Th1) death. Also stimulates bactericidal activity in infected macrophages by causing macrophage activation and IL1B secretion which restricts intracellular bacterial growth (By similarity). Ligand for P4HB; the interaction retains P4HB at the cell surface of Th2 T-helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration. Ligand for CD44; [...] 9606.ENSP00000378857 WDR6 1151 WD repeat-containing protein 6; Enhances the STK11/LKB1-induced cell growth suppression activity. Negative regulator of amino acid starvation-induced autophagy; WD repeat domain containing 9606.ENSP00000378868 A1CF 602 APOBEC1 complementation factor; Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense-mediated decay; RNA binding motif containing 9606.ENSP00000378877 AGPAT1 283 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha; Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone; 1-acylglycerol-3-phosphate O-acyltransferases 9606.ENSP00000378881 ZNF484 854 Zinc finger protein 484; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000378887 DHRS7B 325 Dehydrogenase/reductase SDR family member 7B; Putative oxidoreductase; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000378888 EGFL8 293 Epidermal growth factor-like protein 8; EGF like domain multiple 8 9606.ENSP00000378897 ASAH2 780 Neutral ceramidase; Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5. Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulatin [...] 9606.ENSP00000378912 COBL 1271 Protein cordon-bleu; Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles 9606.ENSP00000378914 ULK2 1036 Serine/threonine-protein kinase ULK2; Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3- kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and a negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK, also acts as a negative regulator of AMPK through phosphorylation of the AMPK subunits PRKAA1, PRKAB2 and PRKAG [...] 9606.ENSP00000378917 ATXN2L 1097 Ataxin-2-like protein; Involved in the regulation of stress granule and P-body formation; Belongs to the ataxin-2 family 9606.ENSP00000378920 SLC26A6 759 Solute carrier family 26 member 6; Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride- fo [...] 9606.ENSP00000378935 PPHLN1 458 Periphilin-1; Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin. Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex. May be involved in epithelial differentiation by contributing to epiderma [...] 9606.ENSP00000378957 MFAP4 279 Microfibril-associated glycoprotein 4; Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance; Fibrinogen C domain containing 9606.ENSP00000378958 RABL2B 238 Rab-like protein 2B; RAB, member of RAS oncogene family like 2B 9606.ENSP00000378965 SNTB1 538 Beta-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex; Belongs to the syntrophin family 9606.ENSP00000378972 SULT1A1 295 Sulfotransferase 1A1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Has also estrogen sulfotransferase activity. responsible for the sulfonation and activation of minoxidil. Is Mediates the metabolic activation of carcinogenic N- hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk; Sulfotransferases, cytosolic 9606.ENSP00000378974 MAPK8 427 Mitogen-activated protein kinase 8; Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1. In turn, MAPK8/JNK1 phosphorylates a number of transcription factors, primarily components of AP-1 such as JU [...] 9606.ENSP00000378992 SULT1A2 295 Sulfotransferase 1A2; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Is also responsible for the sulfonation and activation of minoxidil. Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk; Sulfotransferases, cytosolic 9606.ENSP00000378996 NREP 112 Neuronal regeneration-related protein; May have roles in neural function. Ectopic expression augments motility of gliomas. Promotes also axonal regeneration (By similarity). May also have functions in cellular differentiation (By similarity). Induces differentiation of fibroblast into myofibroblast and myofibroblast ameboid migration. Increases retinoic-acid regulation of lipid-droplet biogenesis (By similarity). Down-regulates the expression of TGFB1 and TGFB2 but not of TGFB3 (By similarity). May play a role in the regulation of alveolar generation 9606.ENSP00000379003 NUPR1 100 Nuclear protein 1, transcriptional regulator 9606.ENSP00000379008 SLC5A10 612 Sodium/glucose cotransporter 5; High capacity transporter for mannose and fructose and, to a lesser extent, glucose, AMG, and galactose; Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family 9606.ENSP00000379011 CPT1B 772 Carnitine O-palmitoyltransferase 1, muscle isoform; Carnitine palmitoyltransferase 1B 9606.ENSP00000379025 FBXW10 1052 F-box/WD repeat-containing protein 10; Probable substrate-recognition component of a SCF (SKP1- CUL1-F-box protein)-type E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Overexpression is leading to degradation of CBX5 and CBX1; F-box and WD repeat domain containing 9606.ENSP00000379032 EXT2 751 Exostosin-2; Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan 9606.ENSP00000379034 KLHDC7B 594 Kelch domain containing 7B 9606.ENSP00000379038 TYMP 487 Thymidine phosphorylase; May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro; Minor histocompatibility antigens 9606.ENSP00000379042 ERO1L 468 ERO1-like protein alpha; Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby pla [...] 9606.ENSP00000379047 CCDC51 411 Coiled-coil domain containing 51 9606.ENSP00000379051 PURB 312 Transcriptional activator protein Pur-beta; Has capacity to bind repeated elements in single- stranded DNA such as the purine-rich single strand of the PUR element located upstream of the MYC gene. Plays a role in the control of vascular smooth muscle (VSM) alpha-actin gene transcription as repressor in myoblasts and fibroblasts. Participates in transcriptional and translational regulation of alpha-MHC expression in cardiac myocytes by binding to the purine- rich negative regulatory (PNR) element. Modulates constitutive liver galectin-3 gene transcription by binding to its promoter. Ma [...] 9606.ENSP00000379057 MIEF2 465 Mitochondrial dynamics protein MID49; Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity 9606.ENSP00000379065 TRPS1 1294 Zinc finger transcription factor Trps1; Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes; GATA zinc finger domain containing 9606.ENSP00000379087 ADM2 148 ADM2; IMDL and IMDS may play a role as physiological regulators of gastrointestinal, cardiovascular bioactivities mediated by the CALCRL/RAMPs receptor complexes. Activates the cAMP-dependent pathway; Endogenous ligands 9606.ENSP00000379092 BTC 178 Probetacellulin; Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells 9606.ENSP00000379097 AREG 252 Amphiregulin; Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts; Belongs to the amphiregulin family 9606.ENSP00000379098 CAMK2B 666 Calcium/calmodulin-dependent protein kinase type II subunit beta; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle. In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeti [...] 9606.ENSP00000379108 MTHFD2L 347 Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2; Methylenetetrahydrofolate dehydrogenase 2 like 9606.ENSP00000379110 CXCL1 107 Growth-regulated alpha protein; Has chemotactic activity for neutrophils. May play a role in inflammation and exerts its effects on endothelial cells in an autocrine fashion. In vitro, the processed forms GRO- alpha(4-73), GRO-alpha(5-73) and GRO-alpha(6-73) show a 30-fold higher chemotactic activity; Chemokine ligands 9606.ENSP00000379111 IL4R 825 Interleukin-4 receptor subunit alpha; Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2 9606.ENSP00000379133 APIP 242 Methylthioribulose-1-phosphate dehydratase; Catalyzes the dehydration of methylthioribulose-1- phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1- phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death; Belongs to the aldolase class II family. MtnB subfamily 9606.ENSP00000379138 AFP 609 Alpha-fetoprotein; Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties; Belongs to the ALB/AFP/VDB family 9606.ENSP00000379140 CXCL12 140 Stromal cell-derived factor 1; Chemoattractant active on T-lymphocytes, monocytes, but not neutrophils. Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis. Also binds to atypical chemokine receptor ACKR3, which activates the beta-arrestin pathway and acts as a scavenger receptor for SDF-1. SDF-1-beta(3-72) and SDF-1- alpha(3-67) show a reduced chemotactic activity. Binding to cell surface proteoglycans seems to inhibit formation of SDF-1-alpha(3- 67) and thus to preserve activity on local sites. Ac [...] 9606.ENSP00000379143 ZNF32 273 Zinc finger protein 32; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000379144 TNRC6A 1962 Trinucleotide repeat-containing gene 6A protein; Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent repression of translation and for siRNA- dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes; Belongs to the GW182 family 9606.ENSP00000379156 MPRIP 1038 Myosin phosphatase Rho-interacting protein; Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin. Overexpression of MRIP as well as its F- actin-binding region leads to disassembly of stress fibers in neuronal cells; Pleckstrin homology domain containing 9606.ENSP00000379157 CAST 750 Calpastatin; Specific inhibition of calpain (calcium-dependent cysteine protease). Plays a key role in postmortem tenderization of meat and have been proposed to be involved in muscle protein degradation in living tissue; Belongs to the protease inhibitor I27 (calpastatin) family 9606.ENSP00000379168 ZNF287 761 Zinc finger protein 287; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000379174 POLM 508 DNA-directed DNA/RNA polymerase mu; Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination; Belongs to the DNA polymerase type-X family 9606.ENSP00000379176 CDKL1 358 Cyclin-dependent kinase-like 1; Cyclin dependent kinase like 1 9606.ENSP00000379182 RAE1 368 mRNA export factor; Plays a role in mitotic bipolar spindle formation. Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton; Belongs to the WD repeat rae1 family 9606.ENSP00000379183 PANX2 677 Pannexin-2; Structural component of the gap junctions and the hemichannels; Belongs to the pannexin family 9606.ENSP00000379191 CD59 128 CD59 glycoprotein; Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase; Blood group antigens 9606.ENSP00000379201 VCPKMT 229 Protein-lysine methyltransferase METTL21D; Protein-lysine N-methyltransferase that specifically trimethylates 'Lys-315' of VCP/p97; this modification may decrease VCP ATPase activity; Belongs to the methyltransferase superfamily. METTL21 family 9606.ENSP00000379203 ATP6V1C1 382 V-type proton ATPase subunit C 1; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells 9606.ENSP00000379204 BMP7 431 Bone morphogenetic protein 7; Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis; Bone morphogenetic proteins 9606.ENSP00000379208 ZNF248 579 Zinc finger protein 248; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000379210 MYL3 195 Myosin light chain 3; Regulatory light chain of myosin. Does not bind calcium; EF-hand domain containing 9606.ENSP00000379217 UBFD1 309 Ubiquitin domain-containing protein UBFD1; May play a role as NF-kappa-B regulator 9606.ENSP00000379218 COA1 146 Cytochrome c oxidase assembly factor 1 homolog; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for assembly of mitochondrial respiratory chain complex I and complex IV 9606.ENSP00000379226 TEX11 940 Testis-expressed protein 11; Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers (By similarity) 9606.ENSP00000379228 HECW1 1606 E3 ubiquitin-protein ligase HECW1; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS; C2 domain containing 9606.ENSP00000379241 LRRC2 371 Leucine-rich repeat-containing protein 2; Leucine rich repeat containing 2 9606.ENSP00000379242 CDRT1 752 CMT1A duplicated region transcript 1 protein; F-box and WD repeat domain containing 9606.ENSP00000379256 NCALD 193 Neurocalcin-delta; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions; EF-hand domain containing 9606.ENSP00000379258 GLI3 1580 Transcriptional activator GLI3; Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in reg [...] 9606.ENSP00000379263 TEKT3 490 Tektin-3; Structural component of ciliary and flagellar microtubules. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. Required for progressive sperm mobility (By similarity); Tektins 9606.ENSP00000379267 ELP4 535 Elongator complex protein 4; Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4 9606.ENSP00000379282 ABHD16A 558 Protein ABHD16A; Abhydrolase domain containing 16A 9606.ENSP00000379287 YWHAZ 245 14-3-3 protein zeta/delta; Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner; Belongs to the 14-3-3 family 9606.ENSP00000379290 BCAS1 584 Breast carcinoma amplified sequence 1 9606.ENSP00000379294 FAM172A 416 Protein FAM172A; Family with sequence similarity 172 member A; Belongs to the UPF0528 family 9606.ENSP00000379310 CASC1 722 Protein phosphatase 1 regulatory subunits 9606.ENSP00000379326 SLC5A12 618 Sodium-coupled monocarboxylate transporter 2; Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D- hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, wi [...] 9606.ENSP00000379329 PRR34 138 Proline-rich protein 34; Proline rich 34 9606.ENSP00000379330 NFATC2 925 Nuclear factor of activated T-cells, cytoplasmic 2; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF-alpha or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signaling pathway; Nuclear factors of activated T-cells 9606.ENSP00000379339 RPS29 67 Ribosomal protein S29 9606.ENSP00000379346 ADNP 1102 Activity-dependent neuroprotector homeobox protein; Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation; ZF class homeoboxes and pseudogenes 9606.ENSP00000379350 ITGB1 798 Integrin beta-1; Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta- 1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha- 1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1, alpha- 3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha- 10/beta-1, alpha-11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha-4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin [...] 9606.ENSP00000379353 ST8SIA1 356 Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase; Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid; Sialyltransferases 9606.ENSP00000379364 MOB1A 216 MOB kinase activator 1A; Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellu [...] 9606.ENSP00000379365 EDA2R 318 Tumor necrosis factor receptor superfamily member 27; Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6; Tumor necrosis factor receptor superfamily 9606.ENSP00000379366 MOB1B 221 MOB kinase activator 1B; Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellu [...] 9606.ENSP00000379367 LYRM1 122 LYR motif-containing protein 1; May promote cell proliferation and inhibition of apoptosis of preadipocytes; Belongs to the complex I LYR family 9606.ENSP00000379368 ZNF35 527 Zinc finger protein 35; May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation; Zinc fingers C2H2-type 9606.ENSP00000379369 FOXB1 325 Forkhead box B1 9606.ENSP00000379370 ZNF197 1029 Zinc finger protein 197; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000379372 GTF2A2 109 Transcription initiation factor IIA subunit 2; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity; General transcription factors 9606.ENSP00000379377 GCNT3 438 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3; Glycosyltransferase that can synthesize all known mucin beta 6 N-acetylglucosaminides. Mediates core 2 and core 4 O-glycan branching, 2 important steps in mucin-type biosynthesis. Has also I-branching enzyme activity by converting linear into branched poly-N-acetyllactosaminoglycans, leading to introduce the blood group I antigen during embryonic development 9606.ENSP00000379383 ENAM 1142 Enamelin; Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation 9606.ENSP00000379386 LDHB 334 Lactate dehydrogenase B; Belongs to the LDH/MDH superfamily. LDH family 9606.ENSP00000379390 HERPUD2 406 Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein; Could be involved in the unfolded protein response (UPR) pathway 9606.ENSP00000379396 NAV2 2488 Neuron navigator 2; Possesses 3' to 5' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs; Belongs to the Nav/unc-53 family 9606.ENSP00000379401 ODAM 279 Odontogenic ameloblast-associated protein; Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface 9606.ENSP00000379412 ZNFX1 1918 Zinc finger NFX1-type containing 1; UPF1 like RNA helicases 9606.ENSP00000379430 NDUFAF6 333 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1 9606.ENSP00000379434 KLHL28 571 Kelch-like protein 28; Kelch like family member 28; BTB domain containing 9606.ENSP00000379438 UMOD 673 Uromodulin; Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelia 9606.ENSP00000379441 JMY 988 Junction-mediating and -regulatory protein; Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions. In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/TP53-dependent transcription and apoptosis, suggesting an important role in p53/TP53 stress response such as DNA damage. In cytoplasm, acts as a nucleation-promoting factor for both branched and unbranched actin filaments. Activates the Arp2/3 complex to induce branched actin filament networks. Also catalyzes actin poly [...] 9606.ENSP00000379451 ZNF418 676 Zinc finger protein 418; Transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000379457 FAF1 650 FAS-associated factor 1; Potentiates but cannot initiate FAS-induced apoptosis; UBX domain containing 9606.ENSP00000379458 ZNF586 402 Zinc finger protein 586; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000379462 CTAGE5 809 Endoplasmic reticulum export factor CTAGE5; Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers and recruiting PREB/SEC12 at the endoplasmic reticulum exit sites; CTAGE family 9606.ENSP00000379464 ZNF134 427 Zinc finger protein 134; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000379472 CCK 115 Cholecystokinin; This peptide hormone induces gall bladder contraction and the release of pancreatic enzymes in the gut. Its function in the brain is not clear. Binding to CCK-A receptors stimulates amylase release from the pancreas, binding to CCK-B receptors stimulates gastric acid secretion; Endogenous ligands 9606.ENSP00000379475 DDX39B 428 Spliceosome RNA helicase DDX39B; Involved in nuclear export of spliced and unspliced mRNA. Assembling component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription- independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pa [...] 9606.ENSP00000379496 PDE1C 769 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C; Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a high affinity for both cAMP and cGMP; Phosphodiesterases 9606.ENSP00000379500 UEVLD 471 Ubiquitin-conjugating enzyme E2 variant 3; Possible negative regulator of polyubiquitination; In the N-terminal section; belongs to the ubiquitin- conjugating enzyme family. UEV subfamily 9606.ENSP00000379503 PDP1 562 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial; Catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex; Belongs to the PP2C family 9606.ENSP00000379506 RPL14 215 60S ribosomal protein L14; Component of the large ribosomal subunit; Belongs to the eukaryotic ribosomal protein eL14 family 9606.ENSP00000379512 MGST1 155 Microsomal glutathione S-transferase 1; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity; Microsomal glutathione S-transferases 9606.ENSP00000379531 TMC5 1006 Transmembrane channel-like protein 5; Probable ion channel; Transmembrane channel likes 9606.ENSP00000379563 TSPO 169 Translocator protein; Can bind protoporphyrin IX and may play a role in the transport of porphyrins and heme (By similarity). Promotes the transport of cholesterol across mitochondrial membranes and may play a role in lipid metabolism, but its precise physiological role is controversial. It is apparently not required for steroid hormone biosynthesis. Was initially identified as peripheral-type benzodiazepine receptor; can also bind isoquinoline carboxamides; Belongs to the TspO/BZRP family 9606.ENSP00000379566 CCHCR1 871 Coiled-coil alpha-helical rod protein 1; May be a regulator of keratinocyte proliferation or differentiation 9606.ENSP00000379568 ACBD5 525 Acyl-CoA-binding domain-containing protein 5; Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters 9606.ENSP00000379571 MRGPRX3 322 Mas-related G-protein coupled receptor member X3; Orphan receptor. Probably involved in the function of nociceptive neurons. May regulate nociceptor function and/or development, including the sensation or modulation of pain. Potently activated by enkephalins (By similarity); G protein-coupled receptors, Class A orphans 9606.ENSP00000379601 RAB27A 221 Ras-related protein Rab-27A; Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse; RAB, member RAS oncogene GTPases 9606.ENSP00000379602 VAMP1 118 Vesicle-associated membrane protein 1; Involved in the targeting and/or fusion of transport vesicles to their target membrane 9606.ENSP00000379607 KNCN 101 Kinocilin 9606.ENSP00000379612 TAX1BP1 789 Tax1-binding protein 1; Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade 9606.ENSP00000379616 MYH11 1979 Myosin-11; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000379619 WDR72 1102 WD repeat-containing protein 72; Plays a major role in formation of tooth enamel. Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane; WD repeat domain containing 9606.ENSP00000379621 SNX16 344 Sorting nexin-16; May be involved in several stages of intracellular trafficking. Plays a role in protein transport from early to late endosomes. Plays a role in protein transport to the lysosome. Promotes degradation of EGFR after EGF signaling. Plays a role in intracellular transport of vesicular stomatitis virus nucleocapsids from the endosome to the cytoplasm; Belongs to the sorting nexin family 9606.ENSP00000379643 NDE1 335 Nuclear distribution protein nudE homolog 1; Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neurona [...] 9606.ENSP00000379644 SOX6 808 Transcription factor SOX-6; Transcriptional activator. Binds specifically to the DNA sequence 5'-AACAAT-3'. Plays a key role in several developmental processes, including neurogenesis and skeleton formation; SRY-boxes 9606.ENSP00000379651 LILRA6 481 Leukocyte immunoglobulin-like receptor subfamily A member 6; May act as receptor for class I MHC antigens; Activating leukocyte immunoglobulin like receptors 9606.ENSP00000379654 KIAA0430 1742 Meiosis regulator and mRNA stability factor 1; Essential regulator of oogenesis required for female meiotic progression to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Probably acts via some RNA metabolic process, equivalent to the piRNA system in males, which mediates the repression of transposable elements during meiosis by forming complexes composed of RNAs and governs the methylation and subsequent repression of transposons. Also required to protect from DNA double-strand breaks (By similarity) 9606.ENSP00000379658 ETV6 452 Transcription factor ETV6; Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation; Belongs to the ETS family 9606.ENSP00000379669 MPV17L 196 Mpv17-like protein; Isoform 1 participates in reactive oxygen species metablism by up- or down-regulation of the genes of antioxidant enzymes; Belongs to the peroxisomal membrane protein PXMP2/4 family 9606.ENSP00000379678 PGM5 567 Phosphoglucomutase-like protein 5; Component of adherens-type cell-cell and cell-matrix junctions. Lacks phosphoglucomutase activity 9606.ENSP00000379680 NAGA 411 Alpha-N-acetylgalactosaminidase; Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids 9606.ENSP00000379682 PRH2 166 Salivary acidic proline-rich phosphoprotein 1/2; PRP's act as highly potent inhibitors of crystal growth of calcium phosphates. They provide a protective and reparative environment for dental enamel which is important for the integrity of the teeth; Proline rich proteins 9606.ENSP00000379683 CYP19A1 503 Aromatase; Catalyzes the formation of aromatic C18 estrogens from C19 androgens; Cytochrome P450 family 19 9606.ENSP00000379684 ZNF813 617 Zinc finger protein 813; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000379689 ZNF765 523 Zinc finger protein 765; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000379691 PDXDC1 788 Pyridoxal-dependent decarboxylase domain-containing protein 1; Pyridoxal dependent decarboxylase domain containing 1; Belongs to the group II decarboxylase family 9606.ENSP00000379696 PKIA 76 cAMP-dependent protein kinase inhibitor alpha; Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains 9606.ENSP00000379701 HNF4G 445 Hepatocyte nuclear factor 4-gamma; Transcription factor. Has a lower transcription activation potential than HNF4-alpha; Belongs to the nuclear hormone receptor family. NR2 subfamily 9606.ENSP00000379702 ZNF665 678 Zinc finger protein 665; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000379704 SEPT3 358 Neuronal-specific septin-3; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. Septin GTPase family 9606.ENSP00000379709 ARHGAP21 1958 Rho GTPase-activating protein 21; Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions; PDZ domain containing 9606.ENSP00000379712 IQSEC2 1488 IQ motif and SEC7 domain-containing protein 2; Is a guanine nucleotide exchange factor for the ARF GTP- binding proteins; X-linked mental retardation 9606.ENSP00000379721 USP8 1118 Ubiquitin carboxyl-terminal hydrolase 8; Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endoso [...] 9606.ENSP00000379738 CEACAM18 384 Carcinoembryonic antigen related cell adhesion molecule family; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000379739 IPP 584 Actin-binding protein IPP; May play a role in organizing the actin cytoskeleton; BTB domain containing 9606.ENSP00000379754 CCDC125 511 Coiled-coil domain-containing protein 125; May be involved in the regulation of cell migration 9606.ENSP00000379762 DKK3 350 Dickkopf-related protein 3; Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero- posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity); Belongs to the dickkopf family 9606.ENSP00000379773 ZC3H7A 971 Zinc finger CCCH domain-containing protein 7A; May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the 3'-ATA(A/T)-5' motif in the apical loop; Tetratricopeptide repeat domain containing 9606.ENSP00000379784 COX7B2 81 Cytochrome c oxidase subunit 7B2, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000379802 AMPD3 776 AMP deaminase 3; AMP deaminase plays a critical role in energy metabolism; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family 9606.ENSP00000379804 OSBPL10 764 Oxysterol-binding protein-related protein 10; Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P (Probable). Plays a role in negative regulation of lipid biosynthesis. Negatively regulates APOB secretion from hepatocytes. Binds cholesterol and acidic phospholipids. Also binds 25-hydroxycholesterol. Bin [...] 9606.ENSP00000379808 ATF7IP2 682 Activating transcription factor 7-interacting protein 2; Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. The complex formed with MBD1 and SETDB1 represses transcription and probably couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3) activity (Probable); Belongs to the MCAF family 9606.ENSP00000379818 GRIN2A 1464 Glutamate receptor ionotropic, NMDA 2A; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have higher sensitivity to glutamate and faster kineti [...] 9606.ENSP00000379822 SLC12A1 1099 Solute carrier family 12 member 1; Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume; Belongs to the SLC12A transporter family 9606.ENSP00000379823 COL4A3 1670 Collagen alpha-3(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen; Collagens 9606.ENSP00000379826 TRIM40 258 Tripartite motif-containing protein 40; May function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway. Promotes neddylation of IKBKG/NEMO, stabilizing NFKBIA, and inhibiting of NF-kappaB nuclear translocation and activity; Belongs to the TRIM/RBCC family 9606.ENSP00000379836 SLC30A5 765 Zinc transporter 5; Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP; Solute carriers 9606.ENSP00000379838 CARHSP1 147 Calcium-regulated heat-stable protein 1; Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro) 9606.ENSP00000379839 GNE 753 Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells; In the C-terminal section; belongs to the ROK (NagC/XylR) family 9606.ENSP00000379842 SGK3 496 Serum/glucocorticoid regulated kinase family, member 3; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and [...] 9606.ENSP00000379845 ABAT 500 4-aminobutyrate aminotransferase, mitochondrial; Catalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine; Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family 9606.ENSP00000379847 ZNF143 638 Zinc finger protein 143; Transcriptional activator. Activates the gene for selenocysteine tRNA (tRNAsec). Binds to the SPH motif of small nuclear RNA (snRNA) gene promoters. Participates in efficient U6 RNA polymerase III transcription via its interaction with CHD8; Belongs to the GLI C2H2-type zinc-finger protein family 9606.ENSP00000379862 COCH 550 Cochlin; Plays a role in the control of cell shape and motility in the trabecular meshwork; Deafness associated genes 9606.ENSP00000379865 ADHFE1 467 Hydroxyacid-oxoacid transhydrogenase, mitochondrial; Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2- hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3- hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities; Alcohol dehydrogenases 9606.ENSP00000379866 COL4A4 1690 Collagen alpha-4(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen 9606.ENSP00000379869 ELP5 316 Elongator complex protein 5; Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration (By similarity). May be involved in TP53-mediated transcriptional regulation; Belongs to the ELP5 family 9606.ENSP00000379873 HLA-A 365 HLA class I histocompatibility antigen, A-3 alpha chain; Involved in the presentation of foreign antigens to the immune system; C1-set domain containing 9606.ENSP00000379880 LRRC3B 259 Leucine-rich repeat-containing protein 3B; Leucine rich repeat containing 3B 9606.ENSP00000379888 RPS8 208 Ribosomal protein S8; Belongs to the eukaryotic ribosomal protein eS8 family 9606.ENSP00000379891 AP1S3 154 AP-1 complex subunit sigma-3; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking 9606.ENSP00000379894 UBN1 1134 Ubinuclein-1; Acts as a novel regulator of senescence. Involved in the formation of senescence-associated heterochromatin foci (SAHF), which represses expression of proliferation-promoting genes. Binds to proliferation-promoting genes. May be required for replication- independent chromatin assembly; Belongs to the ubinuclein family 9606.ENSP00000379895 GATM 423 Glycine amidinotransferase, mitochondrial; Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis; Belongs to the amidinotransferase family 9606.ENSP00000379898 ARL4A 200 ADP-ribosylation factor-like protein 4A; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form; ARF GTPase family 9606.ENSP00000379901 TMEM106B 274 Transmembrane protein 106B; Involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking via its interaction with MAP6. May act by inhibiting retrograde transport of lysosomes along dendrites. Required for dendrite branching; Belongs to the TMEM106 family 9606.ENSP00000379904 THRB 461 Thyroid hormone receptor beta; Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine; Belongs to the nuclear hormone receptor family. NR1 subfamily 9606.ENSP00000379911 CENPK 269 Centromere protein K; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Acts in coordination with KNL1 to recruit the NDC80 complex to the outer kinetochore; Belongs to the CENPK family 9606.ENSP00000379931 UBE2E2 201 Ubiquitin-conjugating enzyme E2 E2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Catalyzes the ISGylation of influenza A virus NS1 protein; Ubiquitin conjugating enzymes E2 9606.ENSP00000379934 ZDHHC4 344 Probable palmitoyltransferase ZDHHC4; Zinc finger DHHC-type containing 4; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000379946 GLTSCR1 1560 BRD4-interacting chromatin-remodeling complex-associated protein; May play a role in BRD4-mediated gene transcription 9606.ENSP00000379975 ILK 452 Integrin-linked protein kinase; Receptor-proximal protein kinase regulating integrin- mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage- dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B 9606.ENSP00000379980 CD72 359 B-cell differentiation antigen CD72; Plays a role in B-cell proliferation and differentiation; C-type lectin domain containing 9606.ENSP00000379997 GAPT 157 Protein GAPT; Negatively regulates B-cell proliferation following stimulation through the B-cell receptor. May play an important role in maintenance of marginal zone (MZ) B-cells (By similarity); Belongs to the GAPT family 9606.ENSP00000379999 TIMM17B 222 Translocase of inner mitochondrial membrane 17B; TIM23 complex 9606.ENSP00000380008 LTB4R 352 Leukotriene B4 receptor 1; Receptor for extracellular ATP > UTP and ADP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. May be the cardiac P2Y receptor involved in the regulation of cardiac muscle contraction through modulation of L-type calcium currents. Is a receptor for leukotriene B4, a potent chemoattractant involved in inflammation and immune response; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000380019 ZNF384 577 Zinc finger protein 384; Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000380023 OR12D3 316 Olfactory receptor 12D3; Odorant receptor; Olfactory receptors, family 12 9606.ENSP00000380024 ING4 249 Inhibitor of growth protein 4; Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Through chromatin acetylation it may function in DNA replication. May inhibit tumor progression by modulating the transcriptional output of signaling pathways which regulate cell proliferation. Can suppress brain tumor angiogenesis through transcriptional repression of RELA/NFKB3 target genes when complexed with RELA. May also specifically suppress loss of contact [...] 9606.ENSP00000380033 DDX17 731 Probable ATP-dependent RNA helicase DDX17; As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis. Involved in multiple cellular processes, including pre-mRNA splicing, alternative splicing, ribosomal RNA processing and miRNA processing, as well as transcription regulation. Regulates the alternative splicing of exons exhibiting specific features. For instance, promotes the inclusion of AC-rich alternative exons in CD44 transcripts. This function requires the RNA helicase activity. Affects NFAT5 and histone macro-H2A.1/H2AFY alternative splicing in [...] 9606.ENSP00000380034 SNAI2 268 Zinc finger protein SNAI2; Transcriptional repressor that modulates both activator- dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1- induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2- box-containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in [...] 9606.ENSP00000380037 FITM2 262 Fat storage-inducing transmembrane protein 2; Plays an important role in lipid droplet accumulation. Plays a role in the regulation of cell morphology and cytoskeletal organization 9606.ENSP00000380044 CSNK1E 416 Casein kinase I isoform epsilon; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates DVL1 and DVL2. Central component of the circadian clock. In balance with PP1, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. Inhibits cytokine-induced granuloytic differentiation 9606.ENSP00000380053 LEUTX 168 PRD class homeoboxes and pseudogenes 9606.ENSP00000380054 EAF1 268 ELL-associated factor 1; Acts as a transcriptional transactivator of ELL and ELL2 elongation activities; Belongs to the EAF family 9606.ENSP00000380057 ZSCAN32 697 Zinc finger and SCAN domain-containing protein 32; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000380071 TIGD7 549 Tigger transposable element-derived protein 7; Helix-turn-helix CENPB type domain containing; Belongs to the tigger transposable element derived protein family 9606.ENSP00000380073 IRF9 393 Interferon regulatory factor 9; Transcription factor that mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading to tyrosine phosphorylation of STAT1 and STAT2. IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state 9606.ENSP00000380074 SLC38A9 561 Sodium-coupled neutral amino acid transporter 9; Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acids. Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. SLC38A9 mediates transport of amino a [...] 9606.ENSP00000380081 SLC29A4 530 Equilibrative nucleoside transporter 4; Functions as a polyspecific organic cation transporter, efficiently transporting many organic cations such as monoamine neurotransmitters 1-methyl-4-phenylpyridinium and biogenic amines including serotonin, dopamine, norepinephrine and epinephrine. May play a role in regulating central nervous system homeostasis of monoamine neurotransmitters. May be involved in luminal transport of organic cations in the kidney and seems to use luminal proton gradient to drive organic cation reabsorption. Does not seem to transport nucleoside and nucleoside anal [...] 9606.ENSP00000380087 ZNF213 459 Zinc finger protein 213; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000380093 SOX10 466 Transcription factor SOX-10; Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3; SRY-boxes 9606.ENSP00000380109 NFKBID 313 NF-kappa-B inhibitor delta; May regulate the expression of IL-2, IL-6, and other cytokines through regulation on NF-kappa-B activity. Functions in the regulation of inflammatory responses. May also regulate TCR- induced negative selection of thymocytes (By similarity); Ankyrin repeat domain containing 9606.ENSP00000380112 ENSG00000272968 113 RBAK-RBAKDN readthrough 9606.ENSP00000380116 PROSER3 480 Proline and serine rich 3 9606.ENSP00000380120 RBAK 714 RB-associated KRAB zinc finger protein; May repress E2F-dependent transcription. May promote AR- dependent transcription; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000380131 CLDN6 220 Claudin-6; Plays a major role in tight junction-specific obliteration of the intercellular space; Claudins 9606.ENSP00000380136 KAT6A 2004 Histone acetyltransferase KAT6A; Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML; MYST type domain containing lysine acetyltransferases 9606.ENSP00000380150 CARD11 1154 Caspase recruitment domain-containing protein 11; Involved in the costimulatory signal essential for T- cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. Also activates the TORC1 signaling pathway; CBM complex 9606.ENSP00000380153 OR51E2 320 Olfactory receptor 51E2; Probable G protein-coupled receptor that is activated by the short chain fatty acids (SCFA) acetate and propionate. In response to SCFA, may positively regulate renin secretion and increase blood pressure. May also be activated by steroid hormones and regulate cell proliferation. May also function as an olfactory receptor being activated by beta-ionone; Olfactory receptors, family 51 9606.ENSP00000380155 OR51E1 318 Olfactory receptor 51E1; Odorant receptor; Olfactory receptors, family 51 9606.ENSP00000380157 MOCS2 188 Molybdopterin synthase catalytic subunit; Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group; Belongs to the MoaE family. MOCS2B subfamily 9606.ENSP00000380159 FLYWCH2 140 FLYWCH family member 2 9606.ENSP00000380165 ZNF182 639 Zinc finger protein 182; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000380174 ZSCAN29 852 Zinc finger and SCAN domain-containing protein 29; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000380178 UBE2G1 170 Ubiquitin-conjugating enzyme E2 G1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-, as well as 'Lys-63'-linked polyubiquitination. May be involved in degradation of muscle-specific proteins. Mediates polyubiquitination of CYP3A4; Ubiquitin conjugating enzymes E2 9606.ENSP00000380184 AGPAT6 456 Glycerol-3-phosphate acyltransferase 4; Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Active against both saturated and unsaturated long- chain fatty acyl-CoAs 9606.ENSP00000380185 PLEKHG6 790 Pleckstrin homology domain-containing family G member 6; Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis; Pleckstrin homology domain containing 9606.ENSP00000380227 ITGA4 1032 Integrin alpha-4; Integrins alpha-4/beta-1 (VLA-4) and alpha-4/beta-7 are receptors for fibronectin. They recognize one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. They are also receptors for VCAM1. Integrin alpha- 4/beta-1 recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha- 4/beta-7 is also a receptor for MADCAM1. It recognizes the sequence L-D-T in MADCAM1. On activated endothelial cells integrin VLA-4 triggers homotypic aggregation for most VLA-4-positive leukocyte cell lines. It may also participate in cytolytic T-cell interactions w [...] 9606.ENSP00000380241 NUDT1 179 7,8-dihydro-8-oxoguanine triphosphatase; Antimutagenic. Acts as a sanitizing enzyme for oxidized nucleotide pools, thus suppressing cell dysfunction and death induced by oxidative stress. Hydrolyzes 8-oxo-dGTP, 8-oxo-dATP and 2-OH-dATP, thus preventing misincorporation of oxidized purine nucleoside triphosphates into DNA and subsequently preventing A:T to C:G and G:C to T:A transversions. Able to hydrolyze also the corresponding ribonucleotides, 2-OH-ATP, 8-oxo-GTP and 8-oxo-ATP. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA; Nudix hydrolase family 9606.ENSP00000380247 HRH1 487 Histamine H1 receptor; In peripheral tissues, the H1 subclass of histamine receptors mediates the contraction of smooth muscles, increase in capillary permeability due to contraction of terminal venules, and catecholamine release from adrenal medulla, as well as mediating neurotransmission in the central nervous system 9606.ENSP00000380250 SLC17A3 498 Sodium-dependent phosphate transport protein 4; Isoform 2: voltage-driven, multispecific, organic anion transporter able to transport para-aminohippurate (PAH), estrone sulfate, estradiol-17-beta-glucuronide, bumetanide, and ochratoxin A. Isoform 2 functions as urate efflux transporter on the apical side of renal proximal tubule and is likely to act as an exit path for organic anionic drugs as well as urate in vivo. May be involved in actively transporting phosphate into cells via Na(+) cotransport; Belongs to the major facilitator superfamily. Sodium/anion cotransporter family 9606.ENSP00000380251 NUDT19 375 Nucleoside diphosphate-linked moiety X motif 19; Coenzyme A diphosphatase that mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched- chain fatty-acyl-CoA esters. At low substrate concentrations medium and long-chain fatty-acyl-CoA esters are the primary substrates (By similarity); Nudix hydrolase family 9606.ENSP00000380252 NFE2L2 605 Nuclear factor erythroid 2-related factor 2; Transcription activator that binds to antioxidant response (ARE) elements in the promoter regions of target genes. Important for the coordinated up-regulation of genes in response to oxidative stress. May be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region; Basic leucine zipper proteins 9606.ENSP00000380256 CCNF 786 Cyclin-F; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of CP110 during G2 phase, thereby acting as an inhibitor of centrosome reduplication; Belongs to the cyclin family. Cyclin AB subfamily 9606.ENSP00000380258 ART5 291 ADP-ribosyltransferase 5 9606.ENSP00000380271 RAPGEF4 1011 Rap guanine nucleotide exchange factor 4; Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA- independent exocytosis through interaction with RIMS2 (By similarity) 9606.ENSP00000380281 GPER1 375 G-protein coupled estrogen receptor 1; G-protein coupled estrogen receptor that binds to 17- beta-estradiol (E2) with high affinity, leading to rapid and transient activation of numerous intracellular signaling pathways. Stimulates cAMP production, calcium mobilization and tyrosine kinase Src inducing the release of heparin-bound epidermal growth factor (HB-EGF) and subsequent transactivation of the epidermal growth factor receptor (EGFR), activating downstream signaling pathways such as PI3K/Akt and ERK/MAPK. Mediates pleiotropic functions among others in the cardiovascular, endocrine [...] 9606.ENSP00000380283 GPR146 333 Probable G-protein coupled receptor 146; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000380286 C7orf50 194 Uncharacterized protein C7orf50; Chromosome 7 open reading frame 50 9606.ENSP00000380307 JPH4 628 Junctophilin-4; Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory (By similarity) 9606.ENSP00000380308 DYNC1I2 638 Cytoplasmic dynein 1 intermediate chain 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150- glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes 9606.ENSP00000380310 ZNF676 588 Zinc finger protein 676; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000380315 ZNF208 1280 Zinc finger protein 208; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000380321 TULP3 501 Tubby-related protein 3; Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein- coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT- A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis; Belongs to the TUB family 9606.ENSP00000380322 EMC6 110 ER membrane protein complex subunit 6; Belongs to the EMC6 family 9606.ENSP00000380333 ITIH5 942 Inter-alpha-trypsin inhibitor heavy chain H5; May act as a tumor suppressor 9606.ENSP00000380334 NCF4 348 Neutrophil cytosol factor 4; Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex 9606.ENSP00000380336 SMU1 513 WD40 repeat-containing protein SMU1; Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis. Required for normal accumulation of IK; Belongs to the WD repeat SMU1 family 9606.ENSP00000380349 CAPN3 821 Calpain-3; Calcium-regulated non-lysosomal thiol-protease; Calpains 9606.ENSP00000380351 ZNF682 498 Zinc finger protein 682; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000380352 DDHD2 711 Phospholipase DDHD2; Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4- phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane; Sterile alpha motif domain containing 9606.ENSP00000380353 SFMBT2 894 Scm-like with four MBT domains protein 2; Transcriptional repressor of HOXB13 gene; MBT domain containing 9606.ENSP00000380365 RGN 299 Regucalcin; Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)-dependent cellular processes and enzyme activities (By similarity) 9606.ENSP00000380378 PAFAH1B1 410 Platelet-activating factor acetylhydrolase IB subunit alpha; Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet- activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule slid [...] 9606.ENSP00000380379 WNT5B 359 Protein Wnt-5b; Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity); Belongs to the Wnt family 9606.ENSP00000380401 FOXRED2 684 FAD-dependent oxidoreductase domain-containing protein 2; Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation 9606.ENSP00000380402 MPST 297 3-mercaptopyruvate sulfurtransferase; Transfer of a sulfur ion to cyanide or to other thiol compounds. Also has weak rhodanese activity. Detoxifies cyanide and is required for thiosulfate biosynthesis. Acts as an antioxidant. In combination with cysteine aminotransferase (CAT), contributes to the catabolism of cysteine and is an important producer of hydrogen sulfide in the brain, retina and vascular endothelial cells. Hydrogen sulfide H(2)S is an important synaptic modulator, signaling molecule, smooth muscle contractor and neuroprotectant. Its production by the 3MST/CAT pathway is re [...] 9606.ENSP00000380413 AGAP3 911 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3; GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway; Belongs to the centaurin gamma-like family 9606.ENSP00000380414 DEK 375 Protein DEK; Involved in chromatin organization 9606.ENSP00000380421 IL15RA 353 Interleukin 15 receptor subunit alpha; CD molecules 9606.ENSP00000380427 ENSG00000250151 625 ARPC4-TTLL3 readthrough 9606.ENSP00000380432 INS 110 Insulin; Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver 9606.ENSP00000380437 SLC22A17 538 Solute carrier family 22 member 17; Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resul [...] 9606.ENSP00000380440 INS-IGF2 200 Insulin, isoform 2; INS-IGF2 readthrough 9606.ENSP00000380442 PLA2G4F 849 Cytosolic phospholipase A2 zeta; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position. Has higher enzyme activity for phosphatidylethanolamine than phosphatidylcholine (By similarity); C2 domain containing phospholipases 9606.ENSP00000380450 NOXO1 376 NADPH oxidase organizer 1; Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity 9606.ENSP00000380453 ERMN 297 Ermin; Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS (By similarity) 9606.ENSP00000380460 PLAA 795 Phospholipase A-2-activating protein; Plays a role in protein ubiquitination, sorting and degradation through its association with VCP. Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor al [...] 9606.ENSP00000380466 RPL23L 153 Mitochondrial ribosomal protein L23 9606.ENSP00000380467 JMJD7 316 JmjC domain-containing protein 7; Jumonji domain containing 7 9606.ENSP00000380479 ELAVL2 359 ELAV-like protein 2; Binds RNA. Seems to recognize a GAAA motif. Can bind to its own 3'-UTR, the FOS 3'-UTR and the ID 3'-UTR; Belongs to the RRM elav family 9606.ENSP00000380488 GALNT9 237 Polypeptide N-acetylgalactosaminyltransferase 9; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3; Polypeptide N-acetylgalactosaminyltransferases 9606.ENSP00000380489 MB 154 Myoglobin; Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles 9606.ENSP00000380494 MYCL 394 Protein L-Myc; MYCL proto-oncogene, bHLH transcription factor; Basic helix-loop-helix proteins 9606.ENSP00000380495 DDX51 666 ATP-dependent RNA helicase DDX51; ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits; Belongs to the DEAD box helicase family. DDX51/DBP6 subfamily 9606.ENSP00000380514 HAGH 308 Hydroxyacylglutathione hydrolase, mitochondrial; Thiolesterase that catalyzes the hydrolysis of S-D- lactoyl-glutathione to form glutathione and D-lactic acid; Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family 9606.ENSP00000380516 HMBOX1 420 Homeobox-containing protein 1; Transcription factor. Isoform 1 acts as a transcriptional repressor. Isoform 4 has very low activity as a transcriptional repressor; HNF class homeoboxes 9606.ENSP00000380517 CDH24 819 Cadherin-24; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cadherin-24 mediate strong cell-cell adhesion 9606.ENSP00000380524 CAPSL 208 Calcyphosin-like protein; EF-hand domain containing 9606.ENSP00000380530 DUSP8 625 Dual specificity protein phosphatase 8; Has phosphatase activity with synthetic phosphatase substrates and negatively regulates mitogen-activated protein kinase activity, presumably by catalysing their dephosphorylation. Expected to display protein phosphatase activity toward phosphotyrosine, phosphoserine and phosphothreonine residues; Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000380544 OGFOD2 290 2-oxoglutarate and iron dependent oxygenase domain containing 2 9606.ENSP00000380553 TSPAN4 238 Tetraspanin-4; Tetraspanin 4; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000380557 AKAP8L 646 A-kinase anchor protein 8-like; Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export. Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis. May regulate the initiation phase of DNA replication when associated [...] 9606.ENSP00000380559 CRAMP1L 1269 Crm, cramped-like (Drosophila) 9606.ENSP00000380565 CD151 253 CD151 antigen; Essential for the proper assembly of the glomerular and tubular basement membranes in kidney; Blood group antigens 9606.ENSP00000380594 BPIFC 507 BPI fold containing family C 9606.ENSP00000380598 BLOC1S5 187 Biogenesis of lysosome-related organelles complex 1 subunit 5; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking; Belongs to th [...] 9606.ENSP00000380602 CNTN4 1026 Contactin-4; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis; Fibronectin type III domain containing 9606.ENSP00000380605 LYPD1 141 Ly6/PLAUR domain-containing protein 1; Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro increases receptor desensitization and decreases affinity for ACh of alpha- 4:beta-2-containing nAChRs. May play a role in the intracellular trafficking of alpha-4:beta-2 and alpha-7-containing nAChRs and may inhibit their expression at the cell surface. May be involved in the control of anxiety; LY6/PLAUR domain containing 9606.ENSP00000380635 ARL16 197 ADP-ribosylation factor-like protein 16; ADP ribosylation factor like GTPase 16; ARF GTPase family 9606.ENSP00000380638 PTK2B 1009 Protein-tyrosine kinase 2-beta; Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T- cells, and contributes to the regulation of T-cell responses. Promo [...] 9606.ENSP00000380646 TMEM80 216 Transmembrane protein 80 9606.ENSP00000380659 EIF4ENIF1 985 Eukaryotic translation initiation factor 4E transporter; Nucleoplasmic shuttling protein, which inhibits translation initiation. Mediates the nuclear import of EIF4E by a piggy-back mechanism 9606.ENSP00000380661 CEP250 2442 Centrosome-associated protein CEP250; Probably plays an important role in centrosome cohesion during interphase 9606.ENSP00000380666 SLC7A7 511 Y+L amino acid transporter 1; Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L- arginine in monocytes; Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family 9606.ENSP00000380671 SMCO1 214 Single-pass membrane protein with coiled-coil domains 1 9606.ENSP00000380675 WEE2 567 Wee1-like protein kinase 2; Oocyte-specific protein tyrosine kinase that phosphorylates and inhibits CDK1 and acts as a key regulator of meiosis during both prophase I and metaphase II. Required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, by phosphorylating CDK1 at 'Tyr-15', leading to inhibit CDK1 activity and prevent meiotic reentry. Also required for metaphase II exit during egg activation by phosphorylating CDK1 at 'Tyr-15', to ensure exit from meiosis in oocytes and promote pronuclear formation ( [...] 9606.ENSP00000380679 CCDC40 1142 Coiled-coil domain-containing protein 40; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39; Belongs to the CCDC40 family 9606.ENSP00000380690 CCDC64 573 BICD family-like cargo adapter 1; Component of secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth. Regulates the secretory vesicle transport by controlling the accumulation of Rab6-containing secretory vesicles in the pericentrosomal region restricting anterograde secretory transport during the early phase of neuronal differentiation, thereby inhibiting neuritogenesis (By similarity); Belongs to the BICDR family 9606.ENSP00000380692 KDM7A 941 Lysine-specific demethylase 7A; Histone demethylase required for brain development. Specifically demethylates dimethylated 'Lys-9' and 'Lys-27' (H3K9me2 and H3K27me2, respectively) of histone H3 and monomethylated histone H4 'Lys-20' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4 [...] 9606.ENSP00000380697 IRF7 516 Interferon regulatory factor 7; Key transcriptional regulator of type I interferon (IFN)-dependent immune responses and plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction via both the virus-activated, MyD88- independent pathway and the TLR-activated, MyD88-dependent [...] 9606.ENSP00000380702 MYCBP 103 c-Myc-binding protein; May control the transcriptional activity of MYC. Stimulates the activation of E box-dependent transcription by MYC 9606.ENSP00000380713 RASSF7 373 Ras association domain-containing protein 7; Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti- apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization; Ras association domain family 9606.ENSP00000380718 CDYL 544 Chromodomain Y-like protein; Isoform 2: Chromatin reader protein that recognizes and binds histone H3 trimethylated at 'Lys-9', dimethylated at 'Lys- 27' and trimethylated at 'Lys-27' (H3K9me3, H3K27me2 and H3K27me3, respectively). Part of multimeric repressive chromatin complexes, where it is required for transmission and restoration of repressive histone marks, thereby preserving the epigenetic landscape. Required for chromatin targeting and maximal enzymatic activity of Polycomb repressive complex 2 (PRC2); acts as a positive regulator of PRC2 activity by bridging the pre-existing h [...] 9606.ENSP00000380734 FAM98B 433 Protein FAM98B; Positively stimulates PRMT1-induced protein arginine dimethylated arginine methylation. Promotes colorectal cancer cell malignancy; tRNA splicing ligase complex 9606.ENSP00000380746 FBXL16 479 F-box/LRR-repeat protein 16; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and leucine rich repeat proteins 9606.ENSP00000380747 TMEM209 561 Transmembrane protein 209 9606.ENSP00000380759 PRMT2 433 Protein arginine N-methyltransferase 2; Arginine methyltransferase that methylates the guanidino nitrogens of arginyl residues in proteins such as STAT3, FBL, histone H4. Acts as a coactivator (with NCOA2) of the androgen receptor (AR)-mediated transactivation. Acts as a coactivator (with estrogen) of estrogen receptor (ER)-mediated transactivation. Enhances PGR, PPARG, RARA-mediated transactivation. May inhibit NF-kappa-B transcription and promote apoptosis. Represses E2F1 transcriptional activity (in a RB1- dependent manner). May be involved in growth regulation; Belongs to the class [...] 9606.ENSP00000380762 TEN1 123 CST complex subunit TEN1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST comp [...] 9606.ENSP00000380779 TCTN1 592 Tectonic-1; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to rep [...] 9606.ENSP00000380781 NFIX 441 Nuclear factor 1 X-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication 9606.ENSP00000380785 HOOK2 719 Protein Hook homolog 2; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones 9606.ENSP00000380793 ALG3 438 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol; Dolichyl D-mannosyl phosphate dependent mannosyltransferases 9606.ENSP00000380794 CHMP7 453 Charged multivesicular body protein 7; ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope during late anaphase. Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Plays a role in the endosomal sorting pathway; Charged multivesicular body proteins 9606.ENSP00000380820 MCM3AP 1980 Germinal-center associated nuclear protein; Isoform GANP: Essential for the generation of high- affinity B-cells against T-cell-dependent antigens by affecting somatic hypermutation at the IgV-regions. May have stimulation- dependent DNA primase activity that would generate extra RNA primers in very rapidely proliferating cells and would support clonal expansion of differentiating B-cells (By similarity). Involved in the nuclear export of poly(A)-containing mRNAs by acting as a scaffold for the TREX-2 complex. The TREX-2 complex functions in docking export-competent ribonucleoprotein p [...] 9606.ENSP00000380824 SEPT10 454 Septin-10; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. Septin GTPase family 9606.ENSP00000380837 LSS 732 Lanosterol synthase; Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency; Belongs to the terpene cyclase/mutase family 9606.ENSP00000380840 ENSG00000242852 641 Zinc finger protein 709; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000380855 PDCD1LG2 273 Programmed cell death 1 ligand 2; Involved in the costimulatory signal, essential for T- cell proliferation and IFNG production in a PDCD1-independent manner. Interaction with PDCD1 inhibits T-cell proliferation by blocking cell cycle progression and cytokine production (By similarity); Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000380861 ZBTB44 570 Zinc finger and BTB domain-containing protein 44; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000380866 ZNF788 259 Zinc finger family member 788 9606.ENSP00000380869 RAB2B 216 Ras-related protein Rab-2B; Required for protein transport from the endoplasmic reticulum to the Golgi complex; RAB, member RAS oncogene GTPases 9606.ENSP00000380872 PGBD4 585 piggyBac transposable element derived 4; DNA transposon derived genes 9606.ENSP00000380876 RGS11 467 Regulator of G-protein signaling 11; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form; Regulators of G-protein signaling 9606.ENSP00000380877 ASCC2 757 Activating signal cointegrator 1 complex subunit 2; Enhances NF-kappa-B, SRF and AP1 transactivation 9606.ENSP00000380878 PPP3CC 521 Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin; Belongs to the PPP phosphatase family. PP-2B subfamily 9606.ENSP00000380880 PQLC1 271 PQ-loop repeat-containing protein 1; PQ loop repeat containing 1 9606.ENSP00000380888 MED13 2174 Mediator of RNA polymerase II transcription subunit 13; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000380901 COL8A2 703 Collagen alpha-2(VIII) chain; Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity); Collagens 9606.ENSP00000380903 ROBO3 1386 Roundabout homolog 3; Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon midline crossing; Belongs to the immunoglobulin superfamily. ROBO family 9606.ENSP00000380904 POLR3D 398 DNA-directed RNA polymerase III subunit RPC4; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Ep [...] 9606.ENSP00000380911 CEP83 701 Centrosomal protein of 83 kDa; Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly 9606.ENSP00000380920 C19orf38 230 Protein HIDE1; Chromosome 19 open reading frame 38 9606.ENSP00000380921 SH3KBP1 665 SH3 domain-containing kinase-binding protein 1; Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through a association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activit [...] 9606.ENSP00000380929 TCP10 326 T-complex protein 10A homolog; T-complex 10 9606.ENSP00000380933 C12orf74 190 Uncharacterized protein C12orf74; Chromosome 12 open reading frame 74 9606.ENSP00000380942 ARHGEF12 1544 Rho guanine nucleotide exchange factor 12; May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13; PDZ domain containing 9606.ENSP00000380948 ITGB2 769 Integrin beta-2; Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins ITGAM/ITGB2 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM/ITGB2 is also a receptor for factor X. Integrin ITGAD/ITGB2 is a receptor for ICAM3 and VCAM1. Contributes to natural killer cell cytotoxicity. Involved in leukocyte adhesion and transmigration of leukocyte [...] 9606.ENSP00000380958 MBP 197 Myelin basic protein; The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non- classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T- ce [...] 9606.ENSP00000380959 C17orf67 90 Uncharacterized protein C17orf67; Chromosome 17 open reading frame 67 9606.ENSP00000380982 KIAA0020 648 Pumilio homolog 3; Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress. Binds to double-stranded RNA or DNA without sequence specificity. Involved in development of the eye and of primordial germ cells (By similarity) 9606.ENSP00000380996 KIAA1211L 962 Uncharacterized protein KIAA1211-like; KIAA1211 like 9606.ENSP00000380998 CHMP1A 196 Charged multivesicular body protein 1a; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the [...] 9606.ENSP00000380999 ZNF846 533 Zinc finger protein 846; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000381003 TTC28 2481 Tetratricopeptide repeat protein 28; During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody; Tetratricopeptide repeat domain containing 9606.ENSP00000381005 KRTAP12-3 96 Keratin-associated protein 12-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 12 family 9606.ENSP00000381007 NAV3 2385 Neuron navigator 3; May regulate IL2 production by T-cells. May be involved in neuron regeneration; Belongs to the Nav/unc-53 family 9606.ENSP00000381008 MUC16 14507 Mucin-16; Thought to provide a protective, lubricating barrier against particles and infectious agents at mucosal surfaces; Mucins 9606.ENSP00000381009 KRTAP10-9 292 Keratin-associated protein 10-9; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000381023 TRPM2 1503 Transient receptor potential cation channel subfamily M member 2; Isoform 1: Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels. Extracellular calcium passes through the channel and increases channel activity by binding to the cytoplasmic domain and stabilizing the channel in an open conformation. Also contributes to Ca(2+) release from intracellular stores in response to ADP-ribose. Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates t [...] 9606.ENSP00000381032 NPM2 214 Nucleoplasmin-2; Core histones chaperone involved in chromatin reprogramming, specially during fertilization and early embryonic development. Probably involved in sperm DNA decondensation during fertilization; Belongs to the nucleoplasmin family 9606.ENSP00000381034 SOCS6 535 Suppressor of cytokine signaling 6; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Regulates KIT degradation by ubiquitination of the tyrosine-phosphorylated receptor; SH2 domain containing 9606.ENSP00000381036 ADGB 1667 Androglobin; Calpains 9606.ENSP00000381047 C21orf2 375 Protein C21orf2; Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Involved in DNA damage repair 9606.ENSP00000381053 ZMYND11 602 Zinc finger MYND domain-containing protein 11; Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non- specifically to dsDNA. Acts as a tumor- suppressor by repressing a transcriptional program essential for tumor cell growth; Bromodomain containing 9606.ENSP00000381057 RNASE1 156 Ribonuclease pancreatic; Endonuclease that catalyzes the cleavage of RNA on the 3' side of pyrimidine nucleotides. Acts on single-stranded and double-stranded RNA; Ribonuclease A family 9606.ENSP00000381058 CDH7 785 Cadherin-7; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000381064 INTS10 710 Integrator complex subunit 10; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex 9606.ENSP00000381070 MAP2K7 435 Dual specificity mitogen-activated protein kinase kinase 7; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylati [...] 9606.ENSP00000381072 SERPINB8 374 Serpin B8; Has an important role in epithelial desmosome-mediated cell-cell adhesion; Belongs to the serpin family. Ov-serpin subfamily 9606.ENSP00000381086 CXorf36 433 Deleted in autism-related protein 1; Chromosome X open reading frame 36 9606.ENSP00000381089 SLC35E3 313 Solute carrier family 35 member E3; Putative transporter; Solute carriers 9606.ENSP00000381097 EPHB1 984 Ephrin type-B receptor 1; Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Cognate/functional ephrin ligands for this receptor include EFNB1, EFNB2 and EFNB3. During nervous system development, regulates retinal axon guidance redirecting ipsilaterally ventrotempora [...] 9606.ENSP00000381098 GRIP1 1076 Glutamate receptor-interacting protein 1; May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons. Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity); PDZ domain containing 9606.ENSP00000381101 SERPINB7 380 Serpin B7; Might function as an inhibitor of Lys-specific proteases. Might influence the maturation of megakaryocytes via its action as a serpin; Serpin peptidase inhibitors 9606.ENSP00000381102 TMEM55B 284 Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate. Does not hydrolyze phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-bisphosphate, inositol 3,5-bisphosphate, inositol 3,4- bisphosphate, phosphatidylinositol 5-monophosphate, phosphatidylinositol 4-monophosphate and phosphatidylinositol 3- monophosphate 9606.ENSP00000381104 TM9SF4 642 Transmembrane 9 superfamily member 4; Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface. Regulates the assembly and activity of V-ATPase in colon cancer cells via its interaction with V-type proton ATPase subunit H (ATP6V1H) and contributes to V-ATPase-mediated pH alterations in cancer cells which play an important role in drug resistance and invasiveness of colon cancer cells. Plays an important role in an atypical phagocytic activity of metastatic melanoma cells called cannibalism and is involved in the [...] 9606.ENSP00000381105 NPS 89 Neuropeptide S; Modulates arousal and anxiety. May play an important anorexigenic role (By similarity). Binds to its receptor NPSR1 with nanomolar affinity to increase intracellular calcium concentrations; Endogenous ligands 9606.ENSP00000381109 ZCWPW1 648 Zinc finger CW-type and PWWP domain containing 1 9606.ENSP00000381129 GRK4 578 G protein-coupled receptor kinase 4; Specifically phosphorylates the activated forms of G protein-coupled receptors. GRK4-alpha can phosphorylate rhodopsin and its activity is inhibited by calmodulin; the other three isoforms do not phosphorylate rhodopsin and do not interact with calmodulin. GRK4-alpha and GRK4-gamma phosphorylate DRD3. Phosphorylates ADRB2; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily 9606.ENSP00000381133 FGL1 312 Fibrinogen-like protein 1; Has hepatocyte mitogenic activity; Fibrinogen C domain containing 9606.ENSP00000381140 AGPAT3 376 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma; Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor. Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA. Has a preference for arachidonoyl-CoA as a donor. Has also a modest lysophosphatidylinositol acyltransferase (LPIAT) activity, converts lys [...] 9606.ENSP00000381148 CTDSP2 271 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2; Preferentially catalyzes the dephosphorylation of 'Ser- 5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas; CTD family phosphatases 9606.ENSP00000381150 MBLAC1 266 Metallo-beta-lactamase domain containing 1 9606.ENSP00000381167 DYNC2H1 4314 Cytoplasmic dynein 2 heavy chain 1; May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity); Dyneins, cytoplasmic 9606.ENSP00000381177 FAM153C 114 Protein FAM153C; Family with sequence similarity 153 member C; Belongs to the FAM153 family 9606.ENSP00000381182 C3orf56 242 Putative uncharacterized protein C3orf56; Chromosome 3 open reading frame 56 9606.ENSP00000381185 BCL2 239 Apoptosis regulator Bcl-2; Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release; BCL2 family 9606.ENSP00000381198 KIAA1468 1216 LisH domain and HEAT repeat-containing protein KIAA1468; Armadillo-like helical domain containing 9606.ENSP00000381204 TMEM123 208 Porimin; Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability 9606.ENSP00000381206 RDH16 317 Retinol dehydrogenase 16; Oxidoreductase with a preference for NAD. Oxidizes all- trans-retinol and 13-cis-retinol to the corresponding aldehydes. Has higher activity towards CRBP-bound retinol than with free retinol. Oxidizes 3-alpha-hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000381213 HPS4 708 Hermansky-Pudlak syndrome 4 protein; Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 9606.ENSP00000381214 RGPD2 1756 RANBP2-like and GRIP domain-containing protein 2; Tetratricopeptide repeat domain containing 9606.ENSP00000381216 KHSRP 711 Far upstream element-binding protein 2; Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. May interact with single- stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3'- UTR, possibly by recruiting degradation machine [...] 9606.ENSP00000381220 HDDC2 204 HD domain containing 2; Belongs to the HDDC2 family 9606.ENSP00000381231 ENSG00000160200 551 Cystathionine-beta-synthase 9606.ENSP00000381234 CBSL 551 Cystathionine beta-synthase-like protein; Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L- homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons 9606.ENSP00000381237 HM13 426 Histocompatibility minor 13 9606.ENSP00000381247 EFCAB9 197 EF-hand calcium-binding domain-containing protein 9; EF-hand calcium binding domain 9 9606.ENSP00000381250 APOF 326 Apolipoprotein F; Minor apolipoprotein that associates with LDL. Inhibits cholesteryl ester transfer protein (CETP) activity and appears to be an important regulator of cholesterol transport. Also associates to a lesser degree with VLDL, Apo-AI and Apo-AII 9606.ENSP00000381266 WDR4 412 tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4; Required for the formation of N(7)-methylguanine at position 46 (m7G46) in tRNA. In the complex, it is required to stabilize and induce conformational changes of the catalytic subunit; Belongs to the WD repeat TRM82 family 9606.ENSP00000381270 TBC1D32 1257 Protein broad-minded; Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity); Armadillo-like helical domain containing 9606.ENSP00000381272 CD200R1L 271 Cell surface glycoprotein CD200 receptor 2; May be a receptor for the CD200/OX2 cell surface glycoprotein; C2-set domain containing 9606.ENSP00000381273 CRYBB2 205 Beta-crystallin B2; Crystallins are the dominant structural components of the vertebrate eye lens; Belongs to the beta/gamma-crystallin family 9606.ENSP00000381282 VIMP 189 Selenoprotein S; Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination 9606.ENSP00000381293 NSF 744 Vesicle-fusing ATPase; Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from the endoplasmic reticulum to the Golgi stack. Seems to function as a fusion protein required for the delivery of cargo proteins to all compartments of the Golgi stack independent of vesicle origin. Interaction with AMPAR subunit GRIA2 leads to influence GRIA2 membrane cycling (By similarity); Belongs to the AAA ATPase family 9606.ENSP00000381298 LONRF1 773 LON peptidase N-terminal domain and ring finger 1 9606.ENSP00000381302 PPAPDC1A 271 Phospholipid phosphatase 4; Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol; Belongs to the PA-phosphatase related phosphoesterase family 9606.ENSP00000381333 CRHR1 444 Corticotropin-releasing factor receptor 1; G-protein coupled receptor for CRH (corticotropin- releasing factor) and UCN (urocortin). Has high affinity for CRH and UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. Inhibits the activity of the calcium channel CACNA1H. Required for normal embryonic development of the adrenal gland and for normal hormonal responses to s [...] 9606.ENSP00000381339 GNAT3 354 Guanine nucleotide-binding protein G(t) subunit alpha-3; Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP-phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultima [...] 9606.ENSP00000381340 GGT5 587 Glutathione hydrolase 5 proenzyme; Cleaves the gamma-glutamyl peptide bond of glutathione conjugates, but maybe not glutathione itself. Converts leukotriene C4 (LTC4) to leukotriene D4 (LTD4); Belongs to the gamma-glutamyltransferase family 9606.ENSP00000381364 CABIN1 2220 Calcineurin-binding protein cabin-1; May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes 9606.ENSP00000381377 ENSG00000250021 394 C15orf38-AP3S2 readthrough 9606.ENSP00000381378 FANCB 859 Fanconi anemia group B protein; DNA repair protein required for FANCD2 ubiquitination; Fanconi anemia complementation groups 9606.ENSP00000381382 TCF4 773 Transcription factor 4; Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'; Basic helix-loop-helix proteins 9606.ENSP00000381386 DDT 118 D-dopachrome decarboxylase; Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI) 9606.ENSP00000381412 CAMK2A 489 Calcium/calmodulin-dependent protein kinase type II subunit alpha; CaM-kinase II (CAMK2) is a prominent kinase in the central nervous system that may function in long-term potentiation and neurotransmitter release. Member of the NMDAR signaling complex in excitatory synapses it may regulate NMDAR-dependent potentiation of the AMPAR and synaptic plasticity (By similarity). Phosphorylates transcription factor FOXO3 on 'Ser-298'. Activates FOXO3 transcriptional activity (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily 9606.ENSP00000381425 MPP3 585 MAGUK p55 subfamily member 3; Membrane associated guanylate kinases; Belongs to the MAGUK family 9606.ENSP00000381429 CGGBP1 167 CGG triplet repeat-binding protein 1; Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter 9606.ENSP00000381436 VGLL3 326 Transcription cofactor vestigial-like protein 3; May act as a specific coactivator for the mammalian TEFs; Vestigial like family 9606.ENSP00000381448 CST3 146 Cystatin-C; As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity; Belongs to the cystatin family 9606.ENSP00000381461 PPME1 400 Protein phosphatase methylesterase 1; Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro) and PPP2CA. Binding to PPP2CA displaces the manganese ion and inactivates the enzyme; Protein phosphatase 2 modulatory subunits 9606.ENSP00000381473 HIGD1C 97 HIG1 hypoxia inducible domain family member 1C 9606.ENSP00000381476 TMPRSS12 348 Transmembrane serine protease 12; Belongs to the peptidase S1 family 9606.ENSP00000381480 SPAG11B 133 Sperm-associated antigen 11A; Sperm associated antigen 11B; Belongs to the SPAG11 family 9606.ENSP00000381486 NOTO 251 Homeobox protein notochord; Transcription regulator acting downstream of both FOXA2 and Brachyury (T) during notochord development. Required for node morphogenesis. Is essential for cilia formation in the posterior notochord (PNC) and for left-right patterning; acts upstream of FOXJ1 and RFX3 in this process and is required for the expression of various components important for axonemal assembly and function. Plays a role in regulating axial versus paraxial cell fate (By similarity); NKL subclass homeoboxes and pseudogenes 9606.ENSP00000381488 KRTAP9-1 250 Keratin-associated protein 9-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000381489 KRTAP4-1 146 Keratin-associated protein 4-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 4 family 9606.ENSP00000381490 LARP4 724 La-related protein 4; RNA binding protein that binds to the poly-A tract of mRNA molecules. Associates with the 40S ribosomal subunit and with polysomes. Plays a role in the regulation of mRNA translation. Plays a role in the regulation of cell morphology and cytoskeletal organization; La ribonucleoprotein domain containing 9606.ENSP00000381494 KRTAP2-2 123 Keratin-associated protein 2-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000381498 FGFRL1 504 Fibroblast growth factor receptor-like 1; Has a negative effect on cell proliferation; I-set domain containing 9606.ENSP00000381499 PAX1 534 Paired box protein Pax-1; This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity); Paired boxes 9606.ENSP00000381504 PRPS2 321 Ribose-phosphate pyrophosphokinase 2; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family 9606.ENSP00000381535 STK32A 407 Serine/threonine kinase 32A 9606.ENSP00000381541 KRTAP5-11 156 Keratin-associated protein 5-11; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family 9606.ENSP00000381542 KRTAP5-10 202 Keratin-associated protein 5-10; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000381549 FRMD4B 1034 FERM domain-containing protein 4B; Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex. Plays a redundant role with FRMD4A in epithelial polarization; FERM domain containing 9606.ENSP00000381553 CCDC11 514 Cilia- and flagella-associated protein 53; May play a role in the beating of primary cilia and thereby be involved in the establishment of organ laterality during embryogenesis 9606.ENSP00000381565 DIAPH1 1272 Protein diaphanous homolog 1; Acts in a Rho-dependent manner to recruit PFY1 to the membrane. Required for the assembly of F-actin structures, such as actin cables and stress fibers. Nucleates actin filaments. Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization. Required for cytokinesis, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote [...] 9606.ENSP00000381567 TMF1 1093 TATA element modulatory factor; Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP) 9606.ENSP00000381577 USP34 3546 Ubiquitin carboxyl-terminal hydrolase 34; Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precurso [...] 9606.ENSP00000381581 LCP1 627 Plastin-2; Actin-binding protein. Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28. Modulates the cell surface expression of IL2RA/CD25 and CD69; EF-hand domain containing 9606.ENSP00000381588 TMPRSS2 529 Transmembrane protease serine 2; Serine protease that proteolytically cleaves and activates the viral spike glycoproteins which facilitate virus- cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Facilitates human SARS coronavirus (SARS-CoV) infection via two independent mechanisms, proteolytic cleavage of ACE2, which might promote viral uptake, and cleavage of coronavirus spike glycoprotein which ac [...] 9606.ENSP00000381589 PCDHGA11 935 Protocadherin gamma-A11; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000381594 PCDHGB7 929 Protocadherin gamma-B7; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000381601 MX1 662 Interferon-induced GTP-binding protein Mx1; Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing genome amplification, bud [...] 9606.ENSP00000381605 PCDHGA8 932 Protocadherin gamma-A8; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000381607 GSTP1 210 Glutathione S-transferase P; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Regulates negatively CDK5 activity via p25/p35 translocation to prevent neurodegeneration; Soluble glutathione S-transferases 9606.ENSP00000381611 PCDHGA10 936 Protocadherin gamma-A10; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000381613 ZNF596 504 Zinc finger protein 596; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000381628 PCDHA12 941 Protocadherin alpha-12; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000381631 C2orf73 287 Uncharacterized protein C2orf73; Chromosome 2 open reading frame 73 9606.ENSP00000381636 PCDHA11 949 Protocadherin alpha-11; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000381654 HMGCLL1 370 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic; Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy- 3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues 9606.ENSP00000381657 DOT1L 1537 Histone-lysine N-methyltransferase, H3 lysine-79 specific; Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones. Binds to DNA; Lysine methyltransferases 9606.ENSP00000381666 GXYLT1 440 Glucoside xylosyltransferase 1; Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose 9606.ENSP00000381672 TP53TG3 124 TP53 target 3; May play a significant role in p53/TP53-mediating signaling pathway 9606.ENSP00000381693 ZSWIM8 1842 Zinc finger SWIM-type containing 8 9606.ENSP00000381698 SHARPIN 387 Sharpin; Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC c [...] 9606.ENSP00000381699 B3GALT5 314 Beta-1,3-galactosyltransferase 5; Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor; Belongs to the glycosyltransferase 31 family 9606.ENSP00000381703 DEFB113 82 Beta-defensin 113; Has antibacterial activity; Defensins, beta 9606.ENSP00000381717 UBE2D2 147 Ubiquitin-conjugating enzyme E2 D2; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP- induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and autoubiquitination of STUB1 and TRAF6. Involved in the signal-induced conjugation and subsequent degradation of NFKBIA, FBXW2-mediated GCM1 ubiquitination and degradation, MDM2-dependent degradation of p53/TP53 and the activation of [...] 9606.ENSP00000381736 ATP5A1 553 ATP synthase subunit alpha, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the [...] 9606.ENSP00000381740 PARP3 540 Poly [ADP-ribose] polymerase 3; Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. May link the DNA damage surveillance network to the mitotic fidelity checkpoint. Negatively influences the G1/S cell cycle progression without interfering with centrosome duplication. Binds DNA. May be involved in t [...] 9606.ENSP00000381758 CAPN11 739 Calpain-11; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction; Belongs to the peptidase C2 family 9606.ENSP00000381760 IQCF6 107 IQ motif containing F6 9606.ENSP00000381768 CDH23 1114 Cadherin-23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing 9606.ENSP00000381773 TOP3B 862 DNA topoisomerase 3-beta-1; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoils [...] 9606.ENSP00000381775 TNFSF11 317 Tumor necrosis factor ligand superfamily member 11; Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy. Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precu [...] 9606.ENSP00000381782 SLC25A45 288 Solute carrier family 25 member 45; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000381785 HSDL2 418 Hydroxysteroid dehydrogenase-like protein 2; Has apparently no steroid dehydrogenase activity; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000381793 GRB10 594 Growth factor receptor-bound protein 10; Adapter protein which modulates coupling of a number of cell surface receptor kinases with specific signaling pathways. Binds to, and suppress signals from, activated receptors tyrosine kinases, including the insulin (INSR) and insulin-like growth factor (IGF1R) receptors. The inhibitory effect can be achieved by 2 mechanisms: interference with the signaling pathway and increased receptor degradation. Delays and reduces AKT1 phosphorylation in response to insulin stimulation. Blocks association between INSR and IRS1 and IRS2 and prevents insulin [...] 9606.ENSP00000381795 CCDC33 755 Coiled-coil domain containing 33 9606.ENSP00000381821 YPEL3 157 Protein yippee-like 3; Involved in proliferation and apoptosis in myeloid precursor cells; Yippee like family 9606.ENSP00000381823 SEC24A 1093 Protein transport protein Sec24A; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24B may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may [...] 9606.ENSP00000381824 SAC3D1 358 SAC3 domain-containing protein 1; Involved in centrosome duplication and mitotic progression; Belongs to the SAC3 family 9606.ENSP00000381840 AEBP2 517 Zinc finger protein AEBP2; DNA-binding transcriptional repressor. May interact with and stimulate the activity of the PRC2 complex, which methylates 'Lys-9' and 'Lys-27' residues of histone H3 9606.ENSP00000381844 ATL3 541 Atlastin-3; GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis 9606.ENSP00000381857 MROH6 719 Maestro heat like repeat family member 6 9606.ENSP00000381859 TOMM6 74 Mitochondrial import receptor subunit TOM6 homolog; Translocase of outer mitochondrial membrane complex; Belongs to the Tom6 family 9606.ENSP00000381876 DAAM2 1068 Dishevelled associated activator of morphogenesis 2; Armadillo-like helical domain containing 9606.ENSP00000381895 SMCO3 225 Single-pass membrane protein with coiled-coil domains 3 9606.ENSP00000381928 MGARP 240 Protein MGARP; Plays a role in the trafficking of mitochondria along microtubules. Regulates the kinesin-mediated axonal transport of mitochondria to nerve terminals along microtubules during hypoxia. Participates in the translocation of TRAK2/GRIF1 from the cytoplasm to the mitochondrion. Also plays a role in steroidogenesis through maintenance of mitochondrial abundance and morphology (By similarity) 9606.ENSP00000381932 DYRK1A 763 Dual specificity tyrosine-phosphorylation-regulated kinase 1A; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P- 3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in t [...] 9606.ENSP00000381937 C4orf29 414 Protein ABHD18; Chromosome 4 open reading frame 29; Belongs to the AB hydrolase superfamily 9606.ENSP00000381949 COL13A1 717 Collagen alpha-1(XIII) chain; Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering; Collagens 9606.ENSP00000381956 MS4A4E 167 Putative membrane-spanning 4-domains subfamily A member 4E; Membrane spanning 4-domains A4E; Belongs to the MS4A family 9606.ENSP00000381958 KSR1 762 Kinase suppressor of Ras 1; Scaffolding protein that is part of a multiprotein signaling complex. Promotes phosphorylation of Raf family members and activation of downstream MAP kinases. Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP. Does not have kinase activity by itself 9606.ENSP00000381968 SPTLC3 552 Serine palmitoyltransferase 3; Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, while the SPTLC1-SPTLC3-SPTSSB has the ability to use a broader range of acyl-CoAs without apparent preference 9606.ENSP00000381970 GIN1 522 Gypsy retrotransposon integrase 1 9606.ENSP00000381981 TTC3 2025 E3 ubiquitin-protein ligase TTC3; E3 ubiquitin-protein ligase that mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Catalyzes the formation of 'Lys-48'- polyubiquitin chains. May play a role in neuronal differentiation inhibition via its interaction with CIT; Ring finger proteins 9606.ENSP00000381984 RPRD1A 312 Regulation of nuclear pre-mRNA domain-containing protein 1A; Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. May act as a negative regulator of cyclin-D1 (CCND1) and cyclin-E (CCNE1) in the cell cycle 9606.ENSP00000381992 SEPT7 401 Septin-7; Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation; Septins 9606.ENSP00000382000 CDRT15L2 281 CMT1A duplicated region transcript 15 like 2 9606.ENSP00000382004 CTNND1 968 Catenin delta-1; Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage; Belongs to the beta-catenin family 9606.ENSP00000382021 LCMT1 334 Leucine carboxyl methyltransferase 1; Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues 9606.ENSP00000382026 ENSG00000164096 199 Uncharacterized protein C4orf3; Chromosome 4 open reading frame 3 9606.ENSP00000382030 RAD51AP2 1159 RAD51 associated protein 2 9606.ENSP00000382058 POLR3G 223 DNA-directed RNA polymerase III subunit RPC7; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the RPC3/POLR3C-RPC6/POLR3F-RPC7/POLR3G subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating cata [...] 9606.ENSP00000382071 HLCS 726 Biotin--protein ligase; Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl- CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase 9606.ENSP00000382083 COL25A1 654 Collagen alpha-1(XXV) chain; Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin; Collagens 9606.ENSP00000382086 EVPLL 301 Envoplakin-like protein; Envoplakin like; Belongs to the plakin or cytolinker family 9606.ENSP00000382090 CLDN14 239 Claudin-14; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Belongs to the claudin family 9606.ENSP00000382091 ALKBH5 394 RNA demethylase ALKBH5; Dioxygenase that demethylates RNA by oxidative demethylation: specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. Can also demethylate N(6)- methyladenosine in single-stranded DNA (in vitro). Requires molecular oxygen, alpha-ketoglutarate and iron. Demethylation of m6A mRNA affects mRNA processing and export. Required for spermatogenesis (By similarity); Belongs to the alkB family 9606.ENSP00000382097 DCDC2C 364 Doublecortin domain containing 2C 9606.ENSP00000382101 ENSG00000234719 397 Putative NPIP-like protein LOC729978 9606.ENSP00000382104 DOPEY2 2298 Protein dopey-2; May be involved in protein traffic between late Golgi and early endosomes; Belongs to the dopey family 9606.ENSP00000382120 AIFM3 605 Apoptosis-inducing factor 3; Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential 9606.ENSP00000382140 LRRC48 523 Dynein regulatory complex subunit 3; Key component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary motility 9606.ENSP00000382163 SETD4 440 SET domain containing 4 9606.ENSP00000382177 MYO5A 1855 Unconventional myosin-Va; Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation; Myosins, class V 9606.ENSP00000382178 MDGA2 956 MAM domain-containing glycosylphosphatidylinositol anchor protein 2; May be involved in cell-cell interactions; I-set domain containing 9606.ENSP00000382204 JMJD1C 2540 Probable JmjC domain-containing histone demethylation protein 2C; Probable histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May be involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes (By similarity); Lysine demethylases 9606.ENSP00000382213 DSPP 1301 Dentin sialophosphoprotein; DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals; Deafness associated genes 9606.ENSP00000382218 ZSWIM7 140 Zinc finger SWIM domain-containing protein 7; Involved in early stages of the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents; Belongs to the SWS1 family 9606.ENSP00000382234 FAM165B 58 Small integral membrane protein 11; Belongs to the SMIM11 family 9606.ENSP00000382237 TMEM26 368 Transmembrane protein 26 9606.ENSP00000382239 RBM12B 1001 RNA binding motif protein 12B 9606.ENSP00000382241 QSER1 1735 Glutamine and serine rich 1 9606.ENSP00000382250 MRPS6 125 Mitochondrial ribosomal protein S6 9606.ENSP00000382269 HECTD1 2610 E3 ubiquitin-protein ligase HECTD1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure; Belongs to the UPL family. K-HECT subfamily 9606.ENSP00000382274 NOMO3 1222 Nodal modulator 3; May antagonize Nodal signaling 9606.ENSP00000382323 OTOG 2925 Otogelin; Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity) 9606.ENSP00000382327 SDR39U1 293 Epimerase family protein SDR39U1; Putative NADP-dependent oxidoreductase; Belongs to the NAD(P)-dependent epimerase/dehydratase family. SDR39U1 subfamily 9606.ENSP00000382328 N4BP2L2 752 NEDD4 binding protein 2 like 2 9606.ENSP00000382330 RNF222 220 Ring finger protein 222 9606.ENSP00000382334 PSG5 335 Pregnancy specific beta-1-glycoprotein 5; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000382341 RABGGTA 567 Geranylgeranyl transferase type-2 subunit alpha; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A; Belongs to the protein prenyltransferase subunit alpha family 9606.ENSP00000382342 ABCC1 1531 Multidrug resistance-associated protein 1; Mediates export of organic anions and drugs from the cytoplasm. Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o- glucuronide, methotrexate, antiviral drugs and other xenobiotics. Confers resistance to anticancer drugs. Hydrolyzes ATP with low efficiency; Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily 9606.ENSP00000382349 ACSM4 580 Acyl-coenzyme A synthetase ACSM4, mitochondrial; Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity); Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000382356 COL28A1 1125 Collagen alpha-1(XXVIII) chain; May act as a cell-binding protein; Belongs to the VWA-containing collagen family 9606.ENSP00000382379 ANKRD28 1053 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A; Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation; Ankyrin repeat domain containing 9606.ENSP00000382390 NEURL4 1562 Neuralized-like protein 4; Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers 9606.ENSP00000382423 MAP3K1 1512 Mitogen-activated protein kinase kinase kinase 1; Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. May phosphorylate the MAPK8/JNK1 kinase. Activates CHUK and IKBKB, the central protein kinases of the NF- kappa-B pathway 9606.ENSP00000382428 DLG4 767 Disks large homolog 4; Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B (By similarity); Belongs to the MAGUK family 9606.ENSP00000382434 PLA2G4E 868 Cytosolic phospholipase A2 epsilon; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position; C2 domain containing phospholipases 9606.ENSP00000382474 C22orf39 142 UPF0545 protein C22orf39; Chromosome 22 open reading frame 39; Belongs to the UPF0545 family 9606.ENSP00000382476 MROH2B 1585 Maestro heat-like repeat-containing protein family member 2B; May play a role in the process of sperm capacitation; Maestro heat like repeat containing 9606.ENSP00000382485 PROL1 248 Opiorphin prepropeptide; Opiorphin is an endogenous inhibitor of neprilysin and aminopeptidase N. Inhibits the breakdown of substance P, Mca-BK2 and Met-enkephalin by neprilysin in vitro with IC(50) values of 29 uM, 33 uM and 33 uM respectively. Inhibits the breakdown of Ala- pNA by aminopeptidase N in vitro with an IC(50) of 65 uM. Has a potent analgesic effect when administered to rats by intravenous injection; Belongs to the PROL1/PROL3 family 9606.ENSP00000382492 RADIL 1075 Ras-associating and dilute domain-containing protein; Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development; Belongs to the RADIL family 9606.ENSP00000382507 UBXN2B 331 UBX domain-containing protein 2B; Adapter protein required for Golgi and endoplasmic reticulum biogenesis. Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis. The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L. VCPIP1 is also required, but not its deubiquitinating activity; Belongs to the NSFL1C family 9606.ENSP00000382508 CDIP1 208 Cell death-inducing p53-target protein 1; Acts as an important p53/TP53-apoptotic effector. Regulates TNF-alpha-mediated apoptosis in a p53/TP53-dependent manner 9606.ENSP00000382511 ZNF195 629 Zinc finger protein 195; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000382513 ZNF594 807 Zinc finger protein 594; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000382518 SRL 473 Sarcalumenin; May be involved in the regulation of calcium transport 9606.ENSP00000382544 TSSK2 358 Testis-specific serine/threonine-protein kinase 2; Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates TSKS at 'Ser-288' and SPAG16. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body 9606.ENSP00000382584 KRTAP5-5 237 Keratin-associated protein 5-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000382590 KRTAP5-4 228 Keratin associated protein 5-4 9606.ENSP00000382592 KRTAP5-3 238 Keratin-associated protein 5-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family 9606.ENSP00000382595 PAICS 432 Multifunctional protein ADE2; Phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase; In the C-terminal section; belongs to the AIR carboxylase family. Class II subfamily 9606.ENSP00000382610 ANKRD18A 992 Ankyrin repeat domain-containing protein 18A; Ankyrin repeat domain containing 9606.ENSP00000382628 RBBP8 897 DNA endonuclease RBBP8; Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double- strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end- joining (NHEJ). Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 ph [...] 9606.ENSP00000382646 FAM166B 275 Protein FAM166B; Family with sequence similarity 166 member B 9606.ENSP00000382670 GRXCR1 290 Glutaredoxin domain-containing cysteine-rich protein 1; May play a role in actin filament architecture in developing stereocilia of sensory cells; Glutaredoxin domain containing 9606.ENSP00000382675 ENHO 76 Adropin; Involved in the regulation of glucose homeostasis and lipid metabolism 9606.ENSP00000382684 MRAP 172 Melanocortin-2 receptor accessory protein; Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells 9606.ENSP00000382688 KDM5A 1690 Lysine-specific demethylase 5A; Histone demethylase that specifically demethylates 'Lys- 4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif. May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation. May participate in transcriptional repr [...] 9606.ENSP00000382697 ROCK1 1354 Rho-associated protein kinase 1; Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, PFN1 and PPP1R12A. Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing. Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress. Acts as a sup [...] 9606.ENSP00000382707 IFITM3 133 Interferon-induced transmembrane protein 3; IFN-induced antiviral protein which disrupts intracellular cholesterol homeostasis. Inhibits the entry of viruses to the host cell cytoplasm by preventing viral fusion with cholesterol depleted endosomes. May inactivate new enveloped viruses which buds out of the infected cell, by letting them go out with a cholesterol depleted membrane. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV) and Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus [...] 9606.ENSP00000382708 C5orf49 147 Uncharacterized protein C5orf49; Chromosome 5 open reading frame 49 9606.ENSP00000382713 UBE2QL1 161 Ubiquitin-conjugating enzyme E2Q-like protein 1; Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000382717 WDR19 1342 WD repeat-containing protein 19; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity); Intraflagellar transport proteins 9606.ENSP00000382731 CECR1 511 Adenosine deaminase 2; Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity 9606.ENSP00000382767 SEL1L3 1132 Protein sel-1 homolog 3; SEL1L family member 3 9606.ENSP00000382770 KCNU1 1149 Potassium channel subfamily U member 1; Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina; Belongs to the potassium channel family. Calcium- a [...] 9606.ENSP00000382777 KRTAP13-2 175 Keratin-associated protein 13-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000382779 SEH1L 421 Nucleoporin SEH1; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore; Belongs to the WD repeat SEC13 family 9606.ENSP00000382783 CLDN8 225 Claudin-8; Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity 9606.ENSP00000382791 GRIK1 918 Glutamate receptor ionotropic, kainate 1; Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus 9606.ENSP00000382794 RNF212B 300 Ring finger protein 212B 9606.ENSP00000382800 RUNX3 429 Runt-related transcription factor 3; CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, lck, IL-3 and GM-CSF promoters. In association with ZFHX3, upregulates CDKN1A promoter activity following TGF-beta stimulation 9606.ENSP00000382804 ODF3B 253 Outer dense fiber of sperm tails 3B 9606.ENSP00000382805 BACH1 736 Transcription regulator protein BACH1; Transcriptional regulator that acts as repressor or activator. Binds, in vitro, to NF-E2 binding sites. Play important roles in coordinating transcription activation and repression by MAFK; BTB domain containing 9606.ENSP00000382814 ITFG3 552 Protein FAM234A; Integrin alpha FG-GAP repeat containing 3; Belongs to the FAM234 family 9606.ENSP00000382815 KIAA2026 2103 Uncharacterized protein KIAA2026; KIAA2026 9606.ENSP00000382828 MAP3K7CL 242 MAP3K7 C-terminal-like protein; MAP3K7 C-terminal like 9606.ENSP00000382840 DDX3X 662 ATP-dependent RNA helicase DDX3X; Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'- single-stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcrip [...] 9606.ENSP00000382856 MTRNR2L4 28 Humanin-like 4; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000382863 CHD8 2581 Chromodomain-helicase-DNA-binding protein 8; DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1- targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsiv [...] 9606.ENSP00000382871 MAGEB16 324 Melanoma-associated antigen B16; MAGE family member B16 9606.ENSP00000382884 MAGEB17 336 Melanoma-associated antigen B17; MAGE family member B17 9606.ENSP00000382895 RPGRIP1 1286 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells; Belongs to the RPGRIP1 family 9606.ENSP00000382941 SIRPA 504 Tyrosine-protein phosphatase non-receptor type substrate 1; Immunoglobulin-like cell surface receptor for CD47. Acts as docking protein and induces translocation of PTPN6, PTPN11 and other binding partners from the cytosol to the plasma membrane. Supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. May play a key role in intracellular signaling during synaptogenesis and in synaptic function (By similarity). Involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. Medi [...] 9606.ENSP00000382951 DEFB30 79 Defensin, beta 130; Antimicrobial host-defense peptide. Has an antiplasmodial activity 9606.ENSP00000382957 ZNF705D 300 Zinc finger protein 705D; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000382972 SNRPN 240 Small nuclear ribonucleoprotein-associated protein N; May be involved in tissue-specific alternative RNA processing events; Sm spliceosomal proteins 9606.ENSP00000382976 L3MBTL4 623 Lethal(3)malignant brain tumor-like protein 4; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity); MBT domain containing 9606.ENSP00000382982 TUBA3C 450 Tubulin alpha-3C/D chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain; Belongs to the tubulin family 9606.ENSP00000382987 ZNF705B 300 Putative zinc finger protein 705B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000383003 FKBP1A 108 Peptidyl-prolyl cis-trans isomerase FKBP1A; Keeps in an inactive conformation TGFBR1, the TGF-beta type I serine/threonine kinase receptor, preventing TGF-beta receptor activation in absence of ligand. Recruits SMAD7 to ACVR1B which prevents the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. May modulate the RYR1 calcium channel activity. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Belongs to the FKBP-type PPIase family. FKBP1 subfamily 9606.ENSP00000383020 ZNF705G 300 Putative zinc finger protein 705G; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000383023 MYL5 173 Myosin light chain 5; EF-hand domain containing 9606.ENSP00000383042 KDM1A 876 Lysine-specific histone demethylase 1A; Histone demethylase that demethylates both 'Lys-4' (H3K4me) and 'Lys-9' (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me. May play a role in the repression of neuronal genes. Alone, it is unable to demethyl [...] 9606.ENSP00000383044 USP25 1125 Ubiquitin carboxyl-terminal hydrolase 25; Deubiquitinating enzyme that hydrolyzes ubiquitin moieties conjugated to substrates and thus, functions to process newly synthesized Ubiquitin, to recycle ubiquitin molecules or to edit polyubiquitin chains and prevents proteasomal degradation of substrates. Hydrolyzes both 'Lys-48'- and 'Lys-63'-linked tetraubiquitin chains; Belongs to the peptidase C19 family 9606.ENSP00000383059 ARGLU1 273 Arginine and glutamate-rich protein 1; Required for the estrogen-dependent expression of ESR1 target genes. Can act in cooperation with MED1 9606.ENSP00000383063 NRIP1 1158 Nuclear receptor-interacting protein 1; Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of ARNTL/BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC 9606.ENSP00000383089 TPTE2 522 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2; Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2; C2 tensin-type domain containing 9606.ENSP00000383096 HGNC:9979 378 Ret finger protein-like 2 9606.ENSP00000383105 DEPDC5 1603 GATOR complex protein DEPDC5; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway 9606.ENSP00000383115 COLEC12 742 Collectin-12; Scavenger receptor that displays several functions associated with host defense. Promotes binding and phagocytosis of Gram-positive, Gram-negative bacteria and yeast. Mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. Binds to several carbohydrates including Gal-type ligands, D-galactose, L- and D-fucose, GalNAc, T and Tn antigens in a calcium-dependent manner and internalizes specifically GalNAc in nurse-like cells. Binds also to sialyl Lewis X or a trisaccharide and asialo-oros [...] 9606.ENSP00000383118 CDC42 191 Cell division control protein 42 homolog; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Plays a role in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia. Mediates CDC42-dependent cell migration. Required for DOCK [...] 9606.ENSP00000383143 SLITRK6 841 SLIT and NTRK-like protein 6; Regulator of neurite outgrowth required for normal hearing and vision; Belongs to the SLITRK family 9606.ENSP00000383145 SFI1 1242 Protein SFI1 homolog; Plays a role in the dynamic structure of centrosome- associated contractile fibers via its interaction with CETN2; Belongs to the SFI1 family 9606.ENSP00000383168 PCBP3 371 Poly(rC)-binding protein 3; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC 9606.ENSP00000383178 DIAPH3 1193 Protein diaphanous homolog 3; Binds to GTP-bound form of Rho and to profilin. Acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity); Armadillo-like helical domain containing 9606.ENSP00000383185 MACC1 852 Metastasis-associated in colon cancer protein 1; Acts as a transcription activator for MET and as a key regulator of HGF-MET signaling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumor growth and metastasis in vivo 9606.ENSP00000383199 NEDD4L 975 E3 ubiquitin-protein ligase NEDD4-like; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, Nav1.2, Nav1.3, Nav1.5, Nav1.7, Nav1.8, Kv1.3, KCNH2, EAAT1 or CLC5. Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiqu [...] 9606.ENSP00000383212 SGSM1 1148 Small G protein signaling modulator 1; Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B; Belongs to the RUTBC family 9606.ENSP00000383216 KRTAP10-12 245 Keratin-associated protein 10-12; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000383219 KRTAP10-6 365 Keratin-associated protein 10-6; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family 9606.ENSP00000383223 KRTAP10-5 271 Keratin-associated protein 10-5; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family 9606.ENSP00000383225 KRTAP10-4 401 Keratin-associated protein 10-4; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 10 family 9606.ENSP00000383226 KRTAP10-1 282 Keratin-associated protein 10-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000383232 GGT1 569 Glutathione hydrolase 1 proenzyme; Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the dipeptide cysteinyl-glycine, which is hydrolyzed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyze a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates extracellular glutathione ( [...] 9606.ENSP00000383234 MAPK4 587 Mitogen-activated protein kinase 4; Atypical MAPK protein. Phosphorylates microtubule- associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity); Mitogen-activated protein kinases 9606.ENSP00000383256 SIAH3 269 Seven in absentia homolog 3; Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria 9606.ENSP00000383270 SMIM2 85 Small integral membrane protein 2 9606.ENSP00000383274 EIF4G3 1621 Eukaryotic translation initiation factor 4 gamma 3; Probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. Thought to be a functional homolog of EIF4G1 9606.ENSP00000383295 NBEA 2946 Neurobeachin; Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity); Belongs to the WD repeat neurobeachin family 9606.ENSP00000383303 DSCAM 2012 Down syndrome cell adhesion molecule; Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies. Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. In spinal chord devel [...] 9606.ENSP00000383333 MORC3 939 MORC family CW-type zinc finger protein 3; Nuclear factor which forms MORC3-NBs (nuclear bodies) via an ATP-dependent mechanism. Sumoylated MORC3-NBs can also associate with PML-NBs. Recruits TP53 and SP100 to PML-NBs, thus regulating TP53 activity. Binds RNA in vitro. May be required for influenza A transcription during viral infection; Zinc fingers CW-type 9606.ENSP00000383364 PLA2G2A 144 Phospholipase A2, membrane associated; Catalyzes the calcium-dependent hydrolysis of the 2-acyl groups in 3-sn-phosphoglycerides. Thought to participate in the regulation of phospholipid metabolism in biomembranes including eicosanoid biosynthesis. Independent of its catalytic activity, acts as a ligand for integrins. Binds to and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1. Binds to a site (site 2) which is distinct from the classical ligand-binding site (site 1) and induces integrin conformational changes and enhanced ligand binding to site 1. Induces cell proliferat [...] 9606.ENSP00000383365 TXNRD2 524 Thioredoxin reductase 2, mitochondrial; Maintains thioredoxin in a reduced state. Implicated in the defenses against oxidative stress. May play a role in redox- regulated cell signaling; Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family 9606.ENSP00000383366 EFCAB8 1288 EF-hand calcium-binding domain-containing protein 8; EF-hand calcium binding domain 8 9606.ENSP00000383376 JAM2 312 Junctional adhesion molecule B; May play a role in the processes of lymphocyte homing to secondary lymphoid organs; Belongs to the immunoglobulin superfamily 9606.ENSP00000383382 GP1BB 206 Platelet glycoprotein Ib beta chain; Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium; CD molecules 9606.ENSP00000383392 NCAM2 837 Neural cell adhesion molecule 2; May play important roles in selective fasciculation and zone-to-zone projection of the primary olfactory axons; Fibronectin type III domain containing 9606.ENSP00000383394 POM121L7 462 POM121 transmembrane nucleoporin-like 7 9606.ENSP00000383396 DEFB116 102 Beta-defensin 116; Has antibacterial activity; Defensins, beta 9606.ENSP00000383398 DEFB115 88 Beta-defensin 115; Has antibacterial activity; Defensins, beta 9606.ENSP00000383402 PPP4R1 950 Serine/threonine-protein phosphatase 4 regulatory subunit 1; Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3; Armadillo-like helical domain containing 9606.ENSP00000383421 RBM11 281 Splicing regulator RBM11; Tissue-specific splicing factor with potential implication in the regulation of alternative splicing during neuron and germ cell differentiation. Antagonizes SRSF1-mediated BCL-X splicing. May affect the choice of alternative 5' splice sites by binding to specific sequences in exons and antagonizing the SR protein SRSF1 9606.ENSP00000383431 GAB4 574 GRB2 associated binding protein family member 4; Belongs to the GAB family 9606.ENSP00000383456 C9orf152 239 Uncharacterized protein C9orf152; Chromosome 9 open reading frame 152 9606.ENSP00000383474 C20orf202 122 Uncharacterized protein C20orf202; Chromosome 20 open reading frame 202 9606.ENSP00000383505 KLHDC7A 777 Kelch domain containing 7A 9606.ENSP00000383516 HMX1 348 Homeobox protein HMX1; DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000383558 GCGR 477 Glucagon receptor; G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signal [...] 9606.ENSP00000383563 ZG16 167 Zymogen granule membrane protein 16; May play a role in protein trafficking. May act as a linker molecule between the submembranous matrix on the luminal side of zymogen granule membrane (ZGM) and aggregated secretory proteins during granule formation in the TGN; Belongs to the jacalin lectin family 9606.ENSP00000383594 TMEM242 141 Transmembrane protein 242; Belongs to the TMEM242 family 9606.ENSP00000383599 WDR47 927 WD repeat-containing protein 47; WD repeat domain containing 9606.ENSP00000383611 CCNL2 520 Cyclin-L2; Involved in pre-mRNA splicing. May induce cell death, possibly by acting on the transcription and RNA processing of apoptosis-related factors; Cyclins 9606.ENSP00000383641 CRLF2 371 Cytokine receptor-like factor 2; Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2 (By similarity). Implicated in the development of the hematopoietic system; Belongs to the type I cytokine receptor family. Type 5 subfamily 9606.ENSP00000383682 FAM72D 149 Protein FAM72D; Family with sequence similarity 72 member D 9606.ENSP00000383690 MASP2 686 Mannan-binding lectin serine protease 2; Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase; Sushi domain containing 9606.ENSP00000383692 CENPS-CORT 164 APITD1-CORT readthrough 9606.ENSP00000383698 SLC2A7 512 Solute carrier family 2, facilitated glucose transporter member 7; High-affinity transporter for glucose and fructose Does not transport galactose, 2-deoxy-d-glucose and xylose; Solute carriers 9606.ENSP00000383710 C1orf86 189 Fanconi anemia core complex-associated protein 20; Chromosome 1 open reading frame 86 9606.ENSP00000383715 CMKBR6 374 C-C chemokine receptor type 6; Receptor for the C-C type chemokine CCL20. Binds to CCL20 and subsequently transduces a signal by increasing the intracellular calcium ion levels. Although CCL20 is its major ligand it can also act as a receptor for non-chemokine ligands such as beta-defensins. Binds to defensin DEFB1 leading to increase in intracellular calcium ions and cAMP levels. Its binding to DEFB1 is essential for the function of DEFB1 in regulating sperm motility and bactericidal activity. Binds to defensins DEFB4 and DEFB4A/B and mediates their chemotactic effects. The ligand-rec [...] 9606.ENSP00000383719 UBE2J2 275 Ubiquitin-conjugating enzyme E2 J2; Catalyzes the covalent attachment of ubiquitin to other proteins. Seems to function in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD); Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000383737 DNAH14 453 Dynein axonemal heavy chain 14 9606.ENSP00000383808 CCDC18 1299 Coiled-coil domain containing 18 9606.ENSP00000383820 MIER1 565 Mesoderm induction early response protein 1; Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing; Myb/SANT domain containing 9606.ENSP00000383840 MMACHC 282 Methylmalonic aciduria and homocystinuria type C protein; Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate. Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin. Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen. Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and oth [...] 9606.ENSP00000383851 KIAA1522 1094 Uncharacterized protein KIAA1522; KIAA1522 9606.ENSP00000383866 SZRD1 152 SUZ RNA binding domain containing 1 9606.ENSP00000383873 TTC34 566 Tetratricopeptide repeat domain containing 9606.ENSP00000383894 MATN3 486 Matrilin-3; Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks; Matrilins 9606.ENSP00000383900 LIPK 399 Lipase member K; Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers; Lipases 9606.ENSP00000383901 LIPM 423 Lipase member M; Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers; Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000383909 DMRTA2 542 Doublesex- and mab-3-related transcription factor A2; May be involved in sexual development 9606.ENSP00000383911 UBAC2 344 Ubiquitin-associated domain-containing protein 2; Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets; Rhomboid family 9606.ENSP00000383920 ASXL2 918 Putative Polycomb group protein ASXL2; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome prolife [...] 9606.ENSP00000383922 ZNF610 462 Zinc finger protein 610; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000383923 LIPN 398 Lipase member N; Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers; Lipases 9606.ENSP00000383931 GP5 560 Platelet glycoprotein V; The GPIb-V-IX complex functions as the vWF receptor and mediates vWF-dependent platelet adhesion to blood vessels. The adhesion of platelets to injured vascular surfaces in the arterial circulation is a critical initiating event in hemostasis; CD molecules 9606.ENSP00000383933 FAM19A5 132 Protein FAM19A5; Family with sequence similarity 19 member A5, C-C motif chemokine like; Belongs to the FAM19/TAFA family 9606.ENSP00000383938 CRELD2 402 Cysteine rich with EGF like domains 2 9606.ENSP00000383949 NHP2L1 128 NHP2-like protein 1; Binds to the 5'-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly. The protein undergoes a conformational change upon RNA-binding 9606.ENSP00000383973 MTA3 537 Metastasis-associated protein MTA3; Plays a role in maintenance of the normal epithelial architecture through the repression of SNAI1 transcription in a histone deacetylase-dependent manner, and thus the regulation of E-cadherin levels. Contributes to transcriptional repression by BCL6; GATA zinc finger domain containing 9606.ENSP00000383986 CDCA7L 454 Cell division cycle-associated 7-like protein; Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter. Plays an important oncogenic role in mediating the full transforming effect of MYC in medulloblastoma cells. Involved in apoptotic signaling pathways; May act downstream of P38-kinase and BCL-2, but upstream of CASP3/caspase-3 as well as CCND1/cyclin D1 and E2F1 9606.ENSP00000384000 ZNF681 645 Zinc finger protein 681; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000384004 POU6F2 691 POU domain, class 6, transcription factor 2; Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA; Belongs to the POU transcription factor family. Class- 6 subfamily 9606.ENSP00000384006 CARF 725 Calcium-responsive transcription factor; Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3' sequence 9606.ENSP00000384015 SUN1 785 SUN domain-containing protein 1; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration. Involv [...] 9606.ENSP00000384018 NCOR2 2514 Nuclear receptor corepressor 2; Transcriptional corepressor. Mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Isoform 1 and isoform 5 have different affinities for different nuclear receptors. Involved in the regulation BCL6-dependent of the germinal center (GC) reactions, mainly through the control of the GC B-cells proliferation and survival; Myb/SANT domain containing 9606.ENSP00000384040 CCDC85A 553 Coiled-coil domain containing 85A; Belongs to the CCDC85 family 9606.ENSP00000384048 PAXIP1 1069 PAX-interacting protein 1; Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP [...] 9606.ENSP00000384053 CSF2RB 897 Cytokine receptor common subunit beta; High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor; CD molecules 9606.ENSP00000384071 TXNRD3NB 133 Protein TXNRD3NB; Thioredoxin reductase 3 neighbor 9606.ENSP00000384081 EFR3B 817 Protein EFR3 homolog B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3B probably acts as the membrane-anchoring component. Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect; Armadillo-like helical domain containing 9606.ENSP00000384084 DTNB 627 Dystrobrevin beta; Zinc fingers ZZ-type; Belongs to the dystrophin family. Dystrobrevin subfamily 9606.ENSP00000384092 POMC 267 Pro-opiomelanocortin; Met-enkephalin: Endogenous opiate; Belongs to the POMC family 9606.ENSP00000384103 VSTM2A 240 V-set and transmembrane domain-containing protein 2A; Plays a role in the regulation of the early stage of white and brown preadipocyte cell differentiation. Promotes adipogenic commitment of preadipocytes by increasing gene expression of the transcription factor PPARG in a BMP4-dependent signaling pathway; V-set domain containing 9606.ENSP00000384109 CUL4B 913 Cullin-4B; Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and h [...] 9606.ENSP00000384115 MEI1 1274 Meiosis inhibitor protein 1; Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity); Armadillo-like helical domain containing 9606.ENSP00000384117 C16orf86 317 Uncharacterized protein C16orf86; Chromosome 16 open reading frame 86 9606.ENSP00000384126 LRRC32 662 Leucine-rich repeat-containing protein 32; Leucine rich repeat containing 32 9606.ENSP00000384136 RDX 604 Radixin; Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane; Deafness associated genes 9606.ENSP00000384160 RBM33 1170 RNA-binding protein 33; RNA binding motif containing 9606.ENSP00000384164 KIF16B 1392 Kinesin-like protein KIF16B; Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. Regulates the plus end motility of early endosomes and the balance between recycling and degradation of receptors such as EGF receptor (EGFR) and FGF receptor (FGFR). Regulates the Golgi to endosome transport of FGFR-containing vesicles during early development, a key process for developing basement membrane and epiblast and primitive endoderm lineages during early postimplantation development; Kinesins 9606.ENSP00000384169 FBLN2 1231 Fibulin-2; Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN; Fibulins 9606.ENSP00000384179 ZFPM2 1151 Zinc finger protein ZFPM2; Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By sim [...] 9606.ENSP00000384182 SCFD2 684 Sec1 family domain-containing protein 2; May be involved in protein transport 9606.ENSP00000384183 GATSL3 329 Cytosolic arginine sensor for mTORC1 subunit 1; Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to CASTOR1 allosterically disrupts the interaction of CASTOR1- containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway; Belongs to the GATS family 9606.ENSP00000384192 RASGRP3 690 Ras guanyl-releasing protein 3; Guanine nucleotide exchange factor (GEF) for Ras and Rap1; EF-hand domain containing 9606.ENSP00000384193 CADM2 437 Cell adhesion molecule 2; Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organization, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes; C2-set domain containing 9606.ENSP00000384197 PDZRN4 1036 PDZ domain containing ring finger 4 9606.ENSP00000384198 INO80D 1027 INO80 complex subunit D; Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; Belongs to the INO80D family 9606.ENSP00000384211 PSME4 1843 Proteasome activator complex subunit 4; Associated component of the proteasome that specifically recognizes acetylated histones and promotes ATP- and ubiquitin- independent degradation of core histones during spermatogenesis and DNA damage response. Recognizes and binds acetylated histones via its bromodomain-like (BRDL) region and activates the proteasome by opening the gated channel for substrate entry. Binds to the core proteasome via its C-terminus, which occupies the same binding sites as the proteasomal ATPases, opening the closed structure of the proteasome via an active gating [...] 9606.ENSP00000384212 IL18BP 194 Interleukin-18-binding protein; Isoform A binds to IL-18 and inhibits its activity. Functions as an inhibitor of the early TH1 cytokine response; Immunoglobulin like domain containing 9606.ENSP00000384214 GAGE12D 117 G antigen 12D; Belongs to the GAGE family 9606.ENSP00000384222 WWC2 1192 Protein WWC2; WW and C2 domain containing 2 9606.ENSP00000384223 ECE2 883 Endothelin-converting enzyme 2; Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May limit amyloid- beta peptide accumulation in brain. May also have methyltransferase activity 9606.ENSP00000384234 TMEM196 172 Transmembrane protein 196 9606.ENSP00000384259 ATG4B 393 Cysteine protease ATG4B; Cysteine protease required for the cytoplasm to vacuole transport (Cvt) and autophagy. Cleaves the C-terminal amino acid of ATG8 family proteins MAP1LC3, GABARAPL1, GABARAPL2 and GABARAP, to reveal a C-terminal glycine. Exposure of the glycine at the C- terminus is essential for ATG8 proteins conjugation to phosphatidylethanolamine (PE) and insertion to membranes, which is necessary for autophagy. Has also an activity of delipidating enzyme for the PE-conjugated forms 9606.ENSP00000384262 HPSE 543 Heparanase; Endoglycosidase that cleaves heparan sulfate proteoglycans (HSPGs) into heparan sulfate side chains and core proteoglycans. Participates in extracellular matrix (ECM) degradation and remodeling. Selectively cleaves the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying either a 3-O-sulfo or a 6-O-sulfo group. Can also cleave the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying a 2-O-sulfo group, but not linkages between a glucuronic acid unit and a 2-O-sulfated iduronic acid moiety. It is essentially inactive at ne [...] 9606.ENSP00000384264 CNGA1 759 cGMP-gated cation channel alpha-1; Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors; Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily 9606.ENSP00000384273 RELA 551 Transcription factor p65; NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kapp [...] 9606.ENSP00000384286 C17orf51 221 Uncharacterized protein C17orf51; Chromosome 17 open reading frame 51 9606.ENSP00000384290 WDR60 1066 WD repeat-containing protein 60; May play a role in ciliogenesis; WD repeat domain containing 9606.ENSP00000384296 ACY1 408 Aminoacylase-1; Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate); Belongs to the peptidase M20A family 9606.ENSP00000384302 WDR43 677 WD repeat-containing protein 43; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre- ribosomal RNA transcription by RNA polymerase I; Belongs to the UTP5 family 9606.ENSP00000384312 TRIOBP 2365 TRIO and F-actin-binding protein; May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover; Deafness associated genes 9606.ENSP00000384330 MYH8 1937 Myosin-8; Muscle contraction; Myosin heavy chains 9606.ENSP00000384331 CEBPZOS 80 Protein CEBPZOS; CEBPZ opposite strand 9606.ENSP00000384334 MEIG1 88 Meiosis expressed gene 1 protein homolog; Essential for spermiogenesis 9606.ENSP00000384359 APOBEC3A 199 DNA dC->dU-editing enzyme APOBEC-3A; DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno- associated virus (AAV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression thro [...] 9606.ENSP00000384363 GDPD3 318 Lysophospholipase D GDPD3; Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines. Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) and lysophosphatidylcholine (lyso-PC), and to a lesser extent for lysophosphatidylethanolamine (lyso-PE). Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine 9606.ENSP00000384364 NPY 97 Pro-neuropeptide Y; NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone; Belongs to the NPY family 9606.ENSP00000384367 KCTD1 257 BTB/POZ domain-containing protein KCTD1; May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent 9606.ENSP00000384369 METTL15 407 Probable methyltransferase-like protein 15; Probable S-adenosyl-L-methionine-dependent methyltransferase 9606.ENSP00000384370 STEAP1B 342 STEAP family member 1B; Belongs to the STEAP family 9606.ENSP00000384371 BCL6 706 B-cell lymphoma 6 protein; Transcriptional repressor mainly required for germinal center (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions. Forms complexes with different corepressors and histone deacetylases to repress the transcriptional expression of different subsets of target genes. Represses its target genes by binding directly to the DNA sequence 5'-TTCCTAGAA-3' (BCL6- binding site) or indirectly by repressing the transcriptional activity of transcription factors. In GC B-cells, represses gen [...] 9606.ENSP00000384376 TDRD15 1934 Tudor domain containing 15 9606.ENSP00000384387 HCRTR1 425 Orexin receptor type 1; Moderately selective excitatory receptor for orexin-A and, with a lower affinity, for orexin-B neuropeptide. Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000384398 MEX3D 651 RNA-binding protein MEX3D; RNA binding protein, may be involved in post- transcriptional regulatory mechanisms; Ring finger proteins 9606.ENSP00000384400 CHKB 395 Choline/ethanolamine kinase; Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis; Belongs to the choline/ethanolamine kinase family 9606.ENSP00000384408 PARG 976 Poly(ADP-ribose) glycohydrolase; Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by poly(ADP-ribose) glycohydrolase. PARG acts both as an endo- and exoglycosidase, releasing PAR of different length as well as ADP- ribose monomers. Required for retinoid acid- dependent gene transactivation, probably by dePARsylating histone demethylase KDM4D, allowing chromatin derepression at RAR- dependent gene promoters. Involved in the synthesis of ATP in the nucleus, together with PARP1, NMNAT1 and NUDT5. Nuclear ATP generation is required for exten [...] 9606.ENSP00000384421 TFIP11 837 Tuftelin-interacting protein 11; Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extrace [...] 9606.ENSP00000384434 ZGLP1 271 GATA-type zinc finger protein 1; Transcriptional repressor that plays a central role in somatic cells of the gonad and is required for germ cell development. Able to repress GATA transcription factor function (By similarity); GATA zinc finger domain containing 9606.ENSP00000384442 CDK11A 780 Cyclin dependent kinase 11A 9606.ENSP00000384474 HYPK 129 Huntingtin-interacting protein K; Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. Required for optimal NAA10- NAA15 complex-mediated N-terminal acetylation 9606.ENSP00000384477 IFRD1 451 Interferon-related developmental regulator 1; Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity); Belongs to the IFRD family 9606.ENSP00000384490 CBX6 412 Chromobox protein homolog 6; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Possibly contributes to the target selectivity of the PRC1 complex by binding specific regions of chromatin. Recruitment to chromatin might occur in an H3K27me3-in [...] 9606.ENSP00000384491 RASSF8 419 Ras association domain family member 8 9606.ENSP00000384515 PARVB 397 Beta-parvin; Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration; Belongs to the parvin family 9606.ENSP00000384517 ARNTL 626 Aryl hydrocarbon receptor nuclear translocator-like protein 1; Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time- keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressu [...] 9606.ENSP00000384524 ETV2 342 ETS translocation variant 2; Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'; ETS transcription factor family 9606.ENSP00000384527 ZBTB40 1239 Zinc finger and BTB domain-containing protein 40; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000384537 AKAP12 1782 A-kinase anchor protein 12; Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC); A-kinase anchoring proteins 9606.ENSP00000384545 BTBD3 522 BTB/POZ domain-containing protein 3; Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity); BTB domain containing 9606.ENSP00000384551 NXPH1 271 Neurexophilin-1; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors 9606.ENSP00000384563 OR6B2 312 Olfactory receptor 6B2; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000384564 SELM 145 Selenoprotein M; May function as a thiol-disulfide oxidoreductase that participates in disulfide bond formation; Belongs to the selenoprotein M/F family 9606.ENSP00000384570 CARD10 1032 Caspase recruitment domain-containing protein 10; Activates NF-kappa-B via BCL10 and IKK; Caspase recruitment domain containing 9606.ENSP00000384582 GPR98 6306 G-protein coupled receptor 98; Receptor that may have an important role in the development of the central nervous system; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily 9606.ENSP00000384588 CYP4F11 524 Phylloquinone omega-hydroxylase CYP4F11; Omega-hydroxylase that oxidizes a variety of structurally unrelated compounds, including fatty acids and xenobiotics. Plays a key role in vitamin K catabolism by mediating omega-hydroxylation of vitamin K1 (phylloquinone), and menaquinone-4 (MK-4), a form of vitamin K2. Hydroxylation of phylloquinone and MK-4 probably regulates blood coagulation. Catalyzes omega-hydroxylation of 3-hydroxy fatty acids, such as 3-hydroxypalmitate, 3-hydroxyoleate, 3- hydroxyarachidonate, and 3-hydroxystearate. Oxidizes drugs such as erythromycin, benzphetamine, et [...] 9606.ENSP00000384593 GAREML 874 GRB2-associated and regulator of MAPK protein 2; Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway 9606.ENSP00000384597 GTF2A1L 478 TFIIA-alpha and beta-like factor; May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription; Belongs to the TFIIA subunit 1 family 9606.ENSP00000384604 FAM150B 152 ALK and LTK ligand 2; Ligand for receptor tyrosine kinases LTK and ALK. Stimulation of ALK signaling may be involved in regulation of cell proliferation and transformation 9606.ENSP00000384610 PNPLA7 1342 Patatin-like phospholipase domain-containing protein 7; Serine hydrolase, whose specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy; Patatin like phospholipase domain containing 9606.ENSP00000384615 STON1 735 Stonin-1; May be involved in the endocytic machinery 9606.ENSP00000384616 MFSD7 560 Major facilitator superfamily domain containing 7 9606.ENSP00000384620 NRG1 640 Pro-neuregulin-1, membrane-bound isoform; Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gla [...] 9606.ENSP00000384621 DQX1 717 ATP-dependent RNA helicase DQX1; DEAQ-box RNA dependent ATPase 1 9606.ENSP00000384625 NLK 527 Serine/threonine-protein kinase NLK; Serine/threonine-protein kinase that regulates a number of transcription factors with key roles in cell fate determination. Positive effector of the non-canonical Wnt signaling pathway, acting downstream of WNT5A, MAP3K7/TAK1 and HIPK2. Activation of this pathway causes binding to and phosphorylation of the histone methyltransferase SETDB1. The NLK- SETDB1 complex subsequently interacts with PPARG, leading to methylation of PPARG target promoters at histone H3K9 and transcriptional silencing. The resulting loss of PPARG target gene transcription inh [...] 9606.ENSP00000384629 SETD8 352 N-lysine methyltransferase KMT5A; Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper [...] 9606.ENSP00000384638 CTNNA2 953 Catenin alpha-2; May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system. Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of startle modulation; Alpha catenins 9606.ENSP00000384651 MTMR3 1198 Myotubularin-related protein 3; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues; Myotubularins 9606.ENSP00000384670 KIAA1210 1709 Acrosomal protein KIAA1210; KIAA1210 9606.ENSP00000384683 RNASE9 210 Inactive ribonuclease-like protein 9; Does not exhibit any ribonuclease activity; Belongs to the pancreatic ribonuclease family 9606.ENSP00000384690 MMD2 270 Monocyte to macrophage differentiation associated 2; Progestin and adipoQ receptor family 9606.ENSP00000384700 PAPOLB 637 poly(A) polymerase beta 9606.ENSP00000384708 FSHR 695 Follicle-stimulating hormone receptor; Receptor for follicle-stimulating hormone or follitropin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Induces cAMP production through the activation of PI3K-AKT and SRC-ERK1/2 signaling pathways; Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily 9606.ENSP00000384716 ZDHHC8 778 Probable palmitoyltransferase ZDHHC8; Palmitoyltransferase involved in glutamatergic transmission. Mediates palmitoylation of ABCA1; Belongs to the DHHC palmitoyltransferase family. ERF2/ZDHHC9 subfamily 9606.ENSP00000384719 VSNL1 191 Visinin-like protein 1; Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner; Belongs to the recoverin family 9606.ENSP00000384725 PRDM6 595 Putative histone-lysine N-methyltransferase PRDM6; Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone meth [...] 9606.ENSP00000384744 DERL3 239 Derlin-3; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins. May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the e [...] 9606.ENSP00000384748 TMEM79 394 Transmembrane protein 79; Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity) 9606.ENSP00000384763 SLC8A1 973 Sodium/calcium exchanger 1; Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)- dependent cellular processes. Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels r [...] 9606.ENSP00000384766 RSPH10B2 870 Radial spoke head 10 homolog B2 9606.ENSP00000384770 PSG4 419 Pregnancy specific beta-1-glycoprotein 4 9606.ENSP00000384792 WDR62 1523 WD repeat-containing protein 62; Required for cerebral cortical development. Plays a role in neuronal proliferation and migration. Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication; WD repeat domain containing 9606.ENSP00000384794 A4GALT 353 Lactosylceramide 4-alpha-galactosyltransferase; Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins; Alpha 1,4-glycosyltransferases 9606.ENSP00000384823 FBXO11 927 F-box only protein 11; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF- beta signaling, c [...] 9606.ENSP00000384832 FAM104A 207 Protein FAM104A; Family with sequence similarity 104 member A 9606.ENSP00000384848 PRR5 411 Proline-rich protein 5; Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT [...] 9606.ENSP00000384849 CDKN1A 164 Cyclin-dependent kinase inhibitor 1; May be involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D-CDK4 complex. Inhibits DNA synthesis by DNA polymerase delta by competing with POLD3 fo [...] 9606.ENSP00000384851 ESRRA 423 Steroid hormone receptor ERR1; Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle; Nuclear hormone receptors 9606.ENSP00000384863 XPO1 1071 Exportin-1; Mediates the nuclear export of cellular proteins (cargos) bearing a leucine-rich nuclear export signal (NES) and of RNAs. In the nucleus, in association with RANBP3, binds cooperatively to the NES on its target protein and to the GTPase RAN in its active GTP-bound form (Ran-GTP). Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the ca [...] 9606.ENSP00000384867 C6orf203 240 Uncharacterized protein C6orf203; Chromosome 6 open reading frame 203 9606.ENSP00000384869 CLHC1 586 Clathrin heavy chain linker domain containing 1 9606.ENSP00000384876 TRIM66 1245 Tripartite motif-containing protein 66; May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association (By similarity); Bromodomain containing 9606.ENSP00000384881 ABCB5 1257 ATP-binding cassette sub-family B member 5; Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair; ATP binding cassette subfamily B 9606.ENSP00000384886 IFI30 250 Gamma-interferon-inducible lysosomal thiol reductase; Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the generation of MHC class II- restricted epitodes from disulfide bond-containing antigen by the endocytic reduction of disulfide bonds (By similarity). Facilitates also MHC class I-restricted recognition of exogenous antigens containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity) 9606.ENSP00000384887 CEACAM19 300 Carcinoembryonic antigen related cell adhesion molecule family; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000384894 AQP12B 307 Aquaporin-12B; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes; Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily 9606.ENSP00000384906 SAA1 122 Serum amyloid A-1 protein; Major acute phase protein; Belongs to the SAA family 9606.ENSP00000384917 SVEP1 3574 Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1; May play a role in the cell attachment process; Sushi domain containing 9606.ENSP00000384924 C22orf29 364 Protein Bop; Could induce apoptosis in a BH3 domain-dependent manner. The direct interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity 9606.ENSP00000384932 GPR12 334 G-protein coupled receptor 12; Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity). Receptor with constitutive G(s) signaling activity that stimulates cyclic AMP production; G protein-coupled receptors, Class A orphans 9606.ENSP00000384949 PYCR1 346 Pyrroline-5-carboxylate reductase 1, mitochondrial; Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress 9606.ENSP00000384950 SULT6B1 265 Sulfotransferase 6B1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity); Sulfotransferases, cytosolic 9606.ENSP00000384952 MRPS12 138 Mitochondrial ribosomal protein S12 9606.ENSP00000384957 F11 625 Coagulation factor XI; Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX 9606.ENSP00000384965 C22orf15 148 Uncharacterized protein C22orf15; Chromosome 22 open reading frame 15 9606.ENSP00000384966 IMMP2L 175 Mitochondrial inner membrane protease subunit 2; Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO; Belongs to the peptidase S26 family. IMP2 subfamily 9606.ENSP00000384971 LRRC72 287 Leucine-rich repeat-containing protein 72; Leucine rich repeat containing 72 9606.ENSP00000384996 TBC1D10A 515 TBC1 domain family member 10A; Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A 9606.ENSP00000384999 P4HA2 535 Prolyl 4-hydroxylase subunit alpha-2; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins 9606.ENSP00000385000 KIF2A 744 Kinesin-like protein KIF2A; Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity; Kinesins 9606.ENSP00000385006 THAP4 577 THAP domain containing 4 9606.ENSP00000385019 CACNA1I 2223 Voltage-dependent T-type calcium channel subunit alpha-1I; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite [...] 9606.ENSP00000385021 FANCL 380 E3 ubiquitin-protein ligase FANCL; Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth; Fanconi anemia complementation groups 9606.ENSP00000385025 SMCR8 937 Guanine nucleotide exchange protein SMCR8; Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activ [...] 9606.ENSP00000385026 CHRNA2 529 Neuronal acetylcholine receptor subunit alpha-2; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane; Cholinergic receptors nicotinic subunits 9606.ENSP00000385028 SLC22A23 686 Solute carrier family 22 member 23 9606.ENSP00000385035 C1S 688 Complement C1s subcomponent; C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4 9606.ENSP00000385036 TCL1A 114 T-cell leukemia/lymphoma protein 1A; Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilizes mitochondrial membrane potential and promotes cell survival; Belongs to the TCL1 family 9606.ENSP00000385057 APOBEC3G 384 DNA dC->dU-editing enzyme APOBEC-3G; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. Exhibits potent antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental [...] 9606.ENSP00000385080 FAH 419 Fumarylacetoacetase; Fumarylacetoacetate hydrolase 9606.ENSP00000385083 KDSR 332 3-ketodihydrosphingosine reductase; Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS); Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000385090 NLRC4 1024 NLR family CARD domain-containing protein 4; Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis; Caspase recruitment domain containing 9606.ENSP00000385096 KCTD17 321 BTB/POZ domain-containing protein KCTD17; Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. May be involved in endoplasmic reticulum calcium ion homeostasis 9606.ENSP00000385098 ALS2CR12 445 Amyotrophic lateral sclerosis 2 chromosome region 12 9606.ENSP00000385099 ZNF792 632 Zinc finger protein 792; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000385118 PRR16 304 Protein Largen; Regulator of cell size that promotes cell size increase independently of mTOR and Hippo signaling pathways. Acts by stimulating the translation of specific mRNAs, including those encoding proteins affecting mitochondrial functions. Increases mitochondrial mass and respiration 9606.ENSP00000385142 NRXN1 1547 Neurexin-1; Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)- triggered exocytosis of secretory granules in pituitary gland. They may effect [...] 9606.ENSP00000385143 UNC5D 953 Netrin receptor UNC5D; Receptor for the netrin NTN4 that promotes neuronal cell survival (By similarity). Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). May play a role in apoptosis in response to DNA damage. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Mediates cell-cell adhesion via its interaction with FLRT3 on an [...] 9606.ENSP00000385158 FAM161A 716 Protein FAM161A; Involved in ciliogenesis 9606.ENSP00000385163 ZNF155 549 Zinc finger protein 155; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000385205 PICK1 415 PRKCA-binding protein; Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate ASIC1/ASIC3 channel. Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competetive w [...] 9606.ENSP00000385215 CEP162 1403 Centrosomal protein of 162 kDa; Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules; Belongs to the CEP162 family 9606.ENSP00000385216 NCOA1 1441 Nuclear receptor coactivator 1; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors. Displays histone acetyltransferase activity toward H3 and H4; the relevance of such activity remains however unclear. Plays a central role in creating mu [...] 9606.ENSP00000385247 CAPN14 684 Calpain-14; Calcium-regulated non-lysosomal thiol-protease; Calpains 9606.ENSP00000385269 ELAVL1 326 ELAV-like protein 1; RNA-binding protein that binds to the 3'-UTR region of mRNAs and increases their stability. Involved in embryonic stem cells (ESCs) differentiation: preferentially binds mRNAs that are not methylated by N6-methyladenosine (m6A), stabilizing them, promoting ESCs differentiation (By similarity). Binds to poly-U elements and AU-rich elements (AREs) in the 3'-UTR of target mRNAs. Binds avidly to the AU-rich element in FOS and IL3/interleukin-3 mRNAs. In the case of the FOS AU-rich element, binds to a core element of 27 nucleotides that contain AUUUA, AUUUUA, and AUUUUU [...] 9606.ENSP00000385277 ELFN2 820 Protein phosphatase 1 regulatory subunit 29; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes; Fibronectin type III domain containing 9606.ENSP00000385285 RNF32 362 RING finger protein 32; May play a role in sperm formation; Ring finger proteins 9606.ENSP00000385300 CLDN15 228 Claudin-15; Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members function as impermeable barriers, others mediate the permeability to ions and small molecules. Often, several claudin family members are coexpressed and interact with each other, and this determines the overall permeability. CLDN15 forms tight junctions that mediate the paracellular transport of small monovalent cations along a concentration gradient, due to selective permeability for Na(+), Li(+) and K(+) ions, but selects a [...] 9606.ENSP00000385312 SLC25A19 320 Mitochondrial thiamine pyrophosphate carrier; Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria; Solute carriers 9606.ENSP00000385334 MAD1L1 718 Mitotic spindle assembly checkpoint protein MAD1; Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. May recruit MAD2L1 to unattached kinetochores. Has a role in the correct positioning of the septum. Required for anchoring MAD2L1 to the nuclear periphery. Binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding 9606.ENSP00000385347 TAPT1 567 Transmembrane anterior posterior transformation protein 1 homolog; Plays a role in primary cilia formation. May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity) 9606.ENSP00000385357 CCDC157 752 Coiled-coil domain containing 157 9606.ENSP00000385361 VPREB1 145 Immunoglobulin iota chain; Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. This complex presumably regulates Ig gene rearrangements in the early steps of B-cell differentiation; CD molecules 9606.ENSP00000385385 PDIA6 492 Protein disulfide-isomerase A6; May function as a chaperone that inhibits aggregation of misfolded proteins. Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling. May also regulate the UPR via the EIF2AK3 UPR sensor. Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin; Protein disulfide isomerases 9606.ENSP00000385410 NOLC1 709 Nucleolar and coiled-body phosphoprotein 1; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification. Involved in nucleologenesis, possibly [...] 9606.ENSP00000385415 GAGE10 116 G antigen 10; Belongs to the GAGE family 9606.ENSP00000385432 SAR1B 198 GTP-binding protein SAR1b; Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex; ARF GTPase family 9606.ENSP00000385443 RSPH10B 870 Radial spoke head 10 homolog B 9606.ENSP00000385450 MAGI1 1462 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1; May play a role as scaffolding protein at cell-cell junctions. May regulate acid-induced ASIC3 currents by modulating its expression at the cell surface (By similarity); Membrane associated guanylate kinases 9606.ENSP00000385451 MDK 143 Midkine; Developmentally regulated, secreted growth factor homologous to pleiotrophin (PTN), which has heparin binding activity. Binds anaplastic lymphoma kinase (ALK) which induces ALK activation and subsequent phosphorylation of the insulin receptor substrate (IRS1), followed by the activation of mitogen-activated protein kinase (MAPK) and PI3-kinase, and the induction of cell proliferation. Involved in neointima formation after arterial injury, possibly by mediating leukocyte recruitment. Also involved in early fetal adrenal gland development (By similarity) 9606.ENSP00000385452 CGREF1 318 Cell growth regulator with EF hand domain protein 1; Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines; EF-hand domain containing 9606.ENSP00000385461 TFDP3 405 Transcription factor Dp family member 3; Competitive inhibitor of E2F-mediated transactivation activity. Impairs E2F-mediated cell-cycle progression from G(1) to S phase; Belongs to the E2F/DP family 9606.ENSP00000385467 C22orf46 243 Uncharacterized protein C22orf46; Chromosome 22 open reading frame 46 9606.ENSP00000385470 TNFSF18 199 Tumor necrosis factor ligand superfamily member 18; Cytokine that binds to TNFRSF18/AITR/GITR. Regulates T- cell responses. Can function as costimulator and lower the threshold for T-cell activation and T-cell proliferation. Important for interactions between activated T-lymphocytes and endothelial cells. Mediates activation of NF-kappa-B. Triggers increased phosphorylation of STAT1 and up-regulates expression of VCAM1 and ICAM1. Promotes leukocyte adhesion to endothelial cells. Regulates migration of monocytes from the splenic reservoir to sites of inflammation (By similarity); Belong [...] 9606.ENSP00000385477 CLDN5 303 Claudin-5; Plays a major role in tight junction-specific obliteration of the intercellular space; Claudins 9606.ENSP00000385478 ISPD 451 D-ribitol-5-phosphate cytidylyltransferase; Cytidylyltransferase required for protein O-linked mannosylation. Catalyzes the formation of CDP- ribitol nucleotide sugar from D-ribitol 5-phosphate. CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine- beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Shows activity toward other pentose phos [...] 9606.ENSP00000385479 HIST2H3A 136 Histone H3.2; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000385480 SYCE3 88 Synaptonemal complex central element protein 3; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for chromosome loading of the central element-specific SCS proteins, and for initiating synapsis between homologous chromosomes. Chromosome loading appears to require SYCP1. Required for fertility 9606.ENSP00000385494 TMEM211 129 Transmembrane protein 211 9606.ENSP00000385510 GPSM2 684 G-protein-signaling modulator 2; Plays an important role in mitotic spindle pole organization via its interaction with NUMA1. Required for cortical dynein- dynactin complex recruitment during metaphase. Plays a role in metaphase spindle orientation. Plays also an important role in asymmetric cell divisions. Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity (By similarity); Deafness associated genes 9606.ENSP00000385523 PPARA 468 Peroxisome proliferator-activated receptor alpha; Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl- 2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and [...] 9606.ENSP00000385527 MFSD2B 497 Major facilitator superfamily domain-containing protein 2B; Cation-dependent lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets. Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is required for red blood cell morphology (By similarity). Does not transport lysophosphatidylcholine (LPC) (By similarity) 9606.ENSP00000385545 KIF26B 2108 Kinesin-like protein KIF26B; Essential for embryonic kidney development. Plays an important role in the compact adhesion between mesenchymal cells adjacent to the ureteric buds, possibly by interacting with MYH10. This could lead to the establishment of the basolateral integrity of the mesenchyme and the polarized expression of ITGA8, which maintains the GDNF expression required for further ureteric bud attraction. Although it seems to lack ATPase activity it is constitutively associated with microtubules (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. K [...] 9606.ENSP00000385570 ICA1 483 Islet cell autoantigen 1; May play a role in neurotransmitter secretion; Classical BAR domain containing 9606.ENSP00000385571 HIPK2 1198 Homeodomain-interacting protein kinase 2; Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect [...] 9606.ENSP00000385579 KIAA1841 718 Uncharacterized protein KIAA1841; KIAA1841 9606.ENSP00000385586 HOXD12 270 Homeobox protein Hox-D12; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Abd-B homeobox family 9606.ENSP00000385592 IGSF23 192 Immunoglobulin superfamily member 23; Immunoglobulin like domain containing 9606.ENSP00000385610 MEX3C 659 RNA-binding E3 ubiquitin-protein ligase MEX3C; E3 ubiquitin ligase responsible for the post- transcriptional regulation of common HLA-A allotypes. Binds to the 3' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation; Ring finger proteins 9606.ENSP00000385616 SUN2 738 SUN domain-containing protein 2; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin- associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin- depe [...] 9606.ENSP00000385632 PDE7A 482 High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May have a role in muscle signal transduction; Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily 9606.ENSP00000385636 OBSL1 1896 Obscurin-like protein 1; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons; I-set domain containing 9606.ENSP00000385675 IL6 212 Interleukin-6; Cytokine with a wide variety of biological functions. It is a potent inducer of the acute phase response. Plays an essential role in the final differentiation of B-cells into Ig- secreting cells Involved in lymphocyte and monocyte differentiation. Acts on B-cells, T-cells, hepatocytes, hematopoietic progenitor cells and cells of the CNS. Required for the generation of T(H)17 cells. Also acts as a myokine. It is discharged into the bloodstream after muscle contraction and acts to increase the breakdown of fats and to improve insulin resistance. It induces myeloma and plas [...] 9606.ENSP00000385684 HERC3 1050 Probable E3 ubiquitin-protein ligase HERC3; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 9606.ENSP00000385689 GRAMD4 578 GRAM domain-containing protein 4; Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53; GRAM domain containing 9606.ENSP00000385695 SEC14L6 397 Putative SEC14-like protein 6; SEC14 like lipid binding 6 9606.ENSP00000385706 PSG2 335 Pregnancy specific beta-1-glycoprotein 2 9606.ENSP00000385720 ARHGAP35 1499 Rho GTPase-activating protein 35; Rho GTPase-activating protein (GAP), binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity. This binding is inhibited by phosphorylation by PRKCA. Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase- activating protein (GAP) (By simila [...] 9606.ENSP00000385721 GGT2 569 Inactive glutathione hydrolase 2; Isoform 1, isoform 2 and isoform 3 lack catalytic activity due to its inability to undergo the autocatalytic cleavage needed to produce a mature, enzymatically active heterodimer; Gamma-glutamyltransferases 9606.ENSP00000385722 INTS1 2190 Integrator complex subunit 1; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex; Armadillo-like helical domain containing 9606.ENSP00000385727 MAST4 2623 Microtubule associated serine/threonine kinase family member 4; PDZ domain containing 9606.ENSP00000385735 GAL3ST1 423 Galactosylceramide sulfotransferase; Catalyzes the sulfation of membrane glycolipids. Seems to prefer beta-glycosides at the non-reducing termini of sugar chains attached to a lipid moiety. Catalyzes the synthesis of galactosylceramide sulfate (sulfatide), a major lipid component of the myelin sheath and of monogalactosylalkylacylglycerol sulfate (seminolipid), present in spermatocytes (By similarity). Also acts on lactosylceramide, galactosyl 1-alkyl-2-sn-glycerol and galactosyl diacylglycerol (in vitro); Belongs to the galactose-3-O-sulfotransferase family 9606.ENSP00000385739 CEACAM21 293 Carcinoembryonic antigen related cell adhesion molecule family; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000385741 APOBEC3H 200 DNA dC->dU-editing enzyme APOBEC-3H; DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. The A3H- var/haplotype 2 exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resu [...] 9606.ENSP00000385746 SMS 366 Spermine synthase; Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM) 9606.ENSP00000385749 PRKAR1B 381 cAMP-dependent protein kinase type I-beta regulatory subunit; Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells 9606.ENSP00000385751 MARK2 788 Serine/threonine-protein kinase MARK2; Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4, MAPT/TAU, and RAB11FIP2. Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and micro [...] 9606.ENSP00000385757 BLVRA 296 Biliverdin reductase A; Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor; Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily 9606.ENSP00000385763 PTGR1 329 Prostaglandin reductase 1; Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-oxo-PGE1, 15-oxo-PGE2 and 15-oxo-PGE2-alpha. Has no activity towards PGE1, PGE2 and PGE2-alpha (By similarity). Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo-leukotriene B4. This is an initial and key step of metabolic inactivation of leukotriene B4 9606.ENSP00000385780 DGKB 804 Diacylglycerol kinase beta; Exhibits high phosphorylation activity for long-chain diacylglycerols 9606.ENSP00000385787 POP1 1024 Ribonucleases P/MRP protein subunit POP1; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP 9606.ENSP00000385790 SDSL 329 Serine dehydratase-like; Has low serine dehydratase and threonine dehydratase activity 9606.ENSP00000385795 PHF14 888 PHD finger protein 14 9606.ENSP00000385808 KIF3A 726 Kinesin-like protein KIF3A; Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitement of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily 9606.ENSP00000385814 RPAIN 231 RPA-interacting protein; Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Isoform 2 is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism 9606.ENSP00000385824 FOXO3 673 Forkhead box protein O3; Transcriptional activator which triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress. Recognizes and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3'. Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post- transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation; Forkhead boxes 9606.ENSP00000385828 TST 297 Thiosulfate sulfurtransferase; Formation of iron-sulfur complexes, cyanide detoxification or modification of sulfur-containing enzymes. Other thiol compounds, besides cyanide, can act as sulfur ion acceptors. Also has weak mercaptopyruvate sulfurtransferase (MST) activity (By similarity). Together with MRPL18, acts as a mitochondrial import factor for the cytosolic 5S rRNA. Only the nascent unfolded cytoplasmic form is able to bind to the 5S rRNA 9606.ENSP00000385834 TF 698 Serotransferrin; Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation 9606.ENSP00000385836 FAM26D 171 Calcium homeostasis modulator protein 4; Pore-forming subunit of a voltage-gated ion channel 9606.ENSP00000385852 SETD5 1442 SET domain-containing protein 5; Probable transcriptional regulator that acts via the formation of large multiprotein complexes that modify and/or remodel the chromatin. Acts as a regulator of histone acetylation during gene transcription; SET domain containing 9606.ENSP00000385885 DUSP28 176 Dual specificity phosphatase 28; Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate (in vitro); Atypical dual specificity phosphatases 9606.ENSP00000385887 ANKMY1 1030 Ankyrin repeat and MYND domain containing 1 9606.ENSP00000385892 PLEKHB2 236 Pleckstrin homology domain-containing family B member 2; Involved in retrograde transport of recycling endosomes; Pleckstrin homology domain containing 9606.ENSP00000385899 SDK1 2213 Protein sidekick-1; Adhesion molecule that promotes lamina-specific synaptic connections in the retina. Expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions; Fibronectin type III domain containing 9606.ENSP00000385903 NAA60 242 N-alpha-acetyltransferase 60; N-alpha-acetyltransferase that specifically mediates the acetylation of N-terminal residues of the transmembrane proteins, with a strong preference for N-termini facing the cytosol. Displays N-terminal acetyltransferase activity towards a range of N-terminal sequences including those starting with Met-Lys, Met-Val, Met-Ala and Met-Met. Required for normal chromosomal segregation during anaphase. May also show histone acetyltransferase activity; such results are however unclear in vivo and would require additional experimental evidences; Belongs to the acet [...] 9606.ENSP00000385905 DNASE1 282 Deoxyribonuclease-1; Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity) 9606.ENSP00000385923 NUCB1 461 Nucleobindin-1; Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity); Belongs to the nucleobindin family 9606.ENSP00000385927 RMDN1 314 Regulator of microtubule dynamics 1 9606.ENSP00000385936 DCDC1 890 Doublecortin domain-containing protein 5; Doublecortin domain containing 1 9606.ENSP00000385939 ZNF12 697 Zinc finger protein 12; Transcriptional repressor which suppresses activation protein 1 (AP-1)- and serum response element (SRE)-mediated transcriptional activity; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000385957 KBTBD12 623 Kelch repeat and BTB domain containing 12 9606.ENSP00000385958 RPS14 151 Ribosomal protein S14 9606.ENSP00000385968 KCNS3 491 Potassium voltage-gated channel subfamily S member 3; Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1. Heterotetrameric channel activity formed with KCNB1 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells (By similarity) 9606.ENSP00000385995 THADA 1953 Thyroid adenoma-associated protein; THADA, armadillo repeat containing; Belongs to the THADA family 9606.ENSP00000386022 MS4A15 240 Membrane-spanning 4-domains subfamily A member 15; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000386023 BUD31 144 Protein BUD31 homolog; Spliceosomal Bact complex 9606.ENSP00000386029 GABRR2 465 Gamma-aminobutyric acid receptor subunit rho-2; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-2 GABA receptor could play a role in retinal neurotransmission; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRR2 sub-subfamily 9606.ENSP00000386039 RPA3OS 102 UBAP1-MVB12-associated (UMA)-domain containing protein 1; RPA3 opposite strand 9606.ENSP00000386041 MYH6 1939 Myosin-6; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000386043 LTBP1 1721 Latent-transforming growth factor beta-binding protein 1; May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM); Latent transforming growth factor beta binding proteins 9606.ENSP00000386049 MBD5 1494 Methyl-CpG-binding domain protein 5; Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro); Methyl-CpG binding domain containing 9606.ENSP00000386069 ADRA2C 462 Alpha-2C adrenergic receptor; Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins; Adrenoceptors 9606.ENSP00000386104 CPE 476 Carboxypeptidase E; Removes residual C-terminal Arg or Lys remaining after initial endoprotease cleavage during prohormone processing. Processes proinsulin; Belongs to the peptidase M14 family 9606.ENSP00000386118 TEX33 280 Testis-expressed protein 33; Testis expressed 33 9606.ENSP00000386125 ARMC5 1030 Armadillo repeat-containing protein 5; Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production; Armadillo repeat containing 9606.ENSP00000386126 UMODL1 1446 Uromodulin like 1 9606.ENSP00000386133 POM121L12 296 POM121-like protein 12; POM121 transmembrane nucleoporin like 12; Belongs to the POM121 family 9606.ENSP00000386134 NGDN 315 Neuroguidin; Involved in the translational repression of cytoplasmic polyadenylation element (CPE)-containing mRNAs 9606.ENSP00000386135 DAPK1 1430 Death-associated protein kinase 1; Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell deaths signal, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Phosphorylates PIN1 resulting in inhibition of its catalytic activity, nuclear localization, and cellular function. Phosphorylates TPM1, enhancing stress [...] 9606.ENSP00000386137 OR2A14 310 Olfactory receptor 2A14; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000386138 OR1C1 314 Olfactory receptor 1C1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000386139 C5orf55 119 Uncharacterized protein EXOC3-AS1; Chromosome 5 open reading frame 55 9606.ENSP00000386141 XKR9 373 XK-related protein 9; XK related family 9606.ENSP00000386143 HEPN1 88 Putative cancer susceptibility gene HEPN1 protein; Hepatocellular carcinoma, down-regulated 1 9606.ENSP00000386146 C6orf226 101 Uncharacterized protein C6orf226; Chromosome 6 open reading frame 226 9606.ENSP00000386149 TMEM257 111 Transmembrane protein 257 9606.ENSP00000386151 OR6B1 311 Olfactory receptor 6B1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000386156 WIBG 204 Partner of Y14 and mago; Key regulator of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon-exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post- transcriptional processes in the cytoplasm such as mRNA export, nonsense-mediated mRNA decay (NMD) or translation. Acts as an EJC disassembly factor, allowing translation-dependent EJC removal and recycling by disrupting mature EJC from spliced mRNAs. Its association with the 40S ribosomal subunit probably prevents a translatio [...] 9606.ENSP00000386162 LCNL1 164 Lipocalin-like 1 protein; Lipocalin like 1; Belongs to the calycin superfamily. Lipocalin family 9606.ENSP00000386163 TMEM14E 125 Transmembrane protein 14E 9606.ENSP00000386165 CEBPD 269 CCAAT/enhancer-binding protein delta; Transcription activator that recognizes two different DNA motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Important transcription factor regulating the expression of genes involved in immune and inflammatory responses. Transcriptional activator that enhances IL6 transcription alone and as heterodimer with CEBPB; Belongs to the bZIP family. C/EBP subfamily 9606.ENSP00000386166 PRR21 389 Proline rich 21 9606.ENSP00000386167 OR2A25 310 Olfactory receptor 2A25; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000386170 TBX20 447 T-box transcription factor TBX20; Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart; T-boxes 9606.ENSP00000386174 OR2A12 310 Olfactory receptor 2A12; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000386175 OR2A1 310 Olfactory receptor 2A1/2A42; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000386180 OR3A2 321 Olfactory receptor 3A2; Odorant receptor; Olfactory receptors, family 3 9606.ENSP00000386181 TTC30B 665 Tetratricopeptide repeat protein 30B; Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip 9606.ENSP00000386184 ZBED8 594 Protein ZBED8; Zinc finger BED-type containing 8 9606.ENSP00000386186 TIGD1 591 Tigger transposable element-derived protein 1; Helix-turn-helix CENPB type domain containing; DNA transposon derived genes 9606.ENSP00000386187 IFITM1 125 Interferon-induced transmembrane protein 1; IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV). Can inhibit: influenza virus hemagglutinin protein- mediated viral entry, MARV and EBOV GP1,2- [...] 9606.ENSP00000386190 C2orf16 1984 Uncharacterized protein C2orf16; Chromosome 2 open reading frame 16 9606.ENSP00000386193 ARIH2OS 290 Uncharacterized protein ARIH2OS; Ariadne RBR E3 ubiquitin protein ligase 2 opposite strand 9606.ENSP00000386195 OR4E2 313 Olfactory receptor 4E2; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000386200 FOXP2 740 Forkhead box protein P2; Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language; Forkhead boxes 9606.ENSP00000386201 TAS2R41 307 Taste receptor type 2 member 41; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000386203 C1orf229 237 Putative uncharacterized protein C1orf229; Chromosome 1 open reading frame 229 9606.ENSP00000386207 HMSD 139 Serpin-like protein HMSD; Putative serine protease inhibitor; Minor histocompatibility antigens 9606.ENSP00000386208 OR2A5 311 Olfactory receptor 2A5; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000386209 OR2A2 318 Olfactory receptor 2A2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000386210 TAS2R40 323 Taste receptor type 2 member 40; Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 9606.ENSP00000386212 PSMB11 300 Proteasome subunit beta type-11; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome (By similarity). Plays a pivotal role in development of CD8-positive T cells (By similarity); Belongs to the peptidase T1B family 9606.ENSP00000386213 MYO3B 1341 Myosin-IIIb; Probable actin-based motor with a protein kinase activity. Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filame [...] 9606.ENSP00000386219 C3orf36 165 Uncharacterized protein C3orf36; Chromosome 3 open reading frame 36 9606.ENSP00000386222 OR2F2 317 Olfactory receptor 2F2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000386226 RBM34 430 RNA-binding protein 34; RNA binding motif containing; Belongs to the RRM RBM34 family 9606.ENSP00000386227 MCC 1019 Colorectal mutant cancer protein; Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b- catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation. Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and n [...] 9606.ENSP00000386229 RGS14 566 Regulator of G-protein signaling 14; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Besides, modulates signal transduction via G protein alpha subunits by functioning as a GDP-dissociation inhibitor (GDI). Has GDI activity on G(i) alpha subunits GNAI1 and GNAI3, but not on GNAI2 and G(o) alpha subunit GNAO1. Has GAP activity on GNAI0, GNAI2 and GNAI3. May act as a scaffold integrating G protein and Ras/Raf MAPkinase signaling pat [...] 9606.ENSP00000386230 C19orf73 129 Putative uncharacterized protein C19orf73; Chromosome 19 open reading frame 73 9606.ENSP00000386239 TONSL 1378 Tonsoku-like protein; Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork- associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold; Ankyrin repeat domain containing 9606.ENSP00000386264 TMEM237 408 Transmembrane protein 237; Component of the transition zone in primary cilia. Required for ciliogenesis; Belongs to the TMEM237 family 9606.ENSP00000386272 SLC38A11 406 Putative sodium-coupled neutral amino acid transporter 11; Putative sodium-dependent amino acid/proton antiporter; Solute carriers 9606.ENSP00000386277 CNPPD1 410 Protein CNPPD1; Cyclin Pas1/PHO80 domain containing 1 9606.ENSP00000386280 APOL6 343 Apolipoprotein L6; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles; Apolipoproteins 9606.ENSP00000386284 ALAD 330 Delta-aminolevulinic acid dehydratase; Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen; Belongs to the ALAD family 9606.ENSP00000386289 GULP1 304 PTB domain-containing engulfment adapter protein 1; May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6 9606.ENSP00000386292 TMEM194B 417 Nuclear envelope integral membrane protein 2; Transmembrane protein 194B; Belongs to the NEMP family 9606.ENSP00000386302 C2orf76 126 UPF0538 protein C2orf76; Chromosome 2 open reading frame 76; Belongs to the UPF0538 family 9606.ENSP00000386306 SCN9A 1977 Sodium channel protein type 9 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a role in pain mechanisms, especially in the development of inflammatory pain; Sodium voltage-gated channel alpha subunits 9606.ENSP00000386331 MYO7A 2215 Unconventional myosin-VIIa; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differenti [...] 9606.ENSP00000386346 SFTPB 393 Pulmonary surfactant-associated protein B; Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter 9606.ENSP00000386348 SAPCD2 394 Suppressor APC domain-containing protein 2; Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions (By similarity). Negatively regulates the mitotic apical cortex localization of GPSM2. Involved also in positive regulation of cell proliferation and tumor cell growth 9606.ENSP00000386357 LRRTM4 590 Leucine-rich repeat transmembrane neuronal protein 4; May play a role in the development and maintenance of the vertebrate nervous system. Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation (By similarity) 9606.ENSP00000386376 KRTAP19-3 81 Keratin-associated protein 19-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000386377 MGAT5 741 Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A; Catalyzes the addition of N-acetylglucosamine in beta 1- 6 linkage to the alpha-linked mannose of biantennary N-linked oligosaccharides. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides; Belongs to the glycosyltransferase 18 family 9606.ENSP00000386378 CD207 328 C-type lectin domain family 4 member K; Calcium-dependent lectin displaying mannose-binding specificity. Induces the formation of Birbeck granules (BGs); is a potent regulator of membrane superimposition and zippering. Binds to sulfated as well as mannosylated glycans, keratan sulfate (KS) and beta-glucans. Facilitates uptake of antigens and is involved in the routing and/or processing of antigen for presentation to T cells. Major receptor on primary Langerhans cells for Candida species, Saccharomyces species, and Malassezia furfur. Protects against human immunodeficiency virus-1 (HIV- [...] 9606.ENSP00000386380 IL1R1 569 Interleukin-1 receptor type 1; Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex 9606.ENSP00000386385 PXMP4 212 Peroxisomal membrane protein 4 9606.ENSP00000386389 KLHL30 578 Kelch-like protein 30; Kelch like family member 30; BTB domain containing 9606.ENSP00000386394 NIF3L1 377 NIF3-like protein 1; May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation 9606.ENSP00000386398 ANKRD30BL 258 Putative ankyrin repeat domain-containing protein 30B-like; Ankyrin repeat domain containing 9606.ENSP00000386414 RAD21L1 556 Double-strand-break repair protein rad21-like protein 1; Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity) 9606.ENSP00000386433 ZNF638 1978 Zinc finger protein 638; Early regulator of adipogenesis that works as a transcription cofactor of CEBPs, controlling the expression of PPARG and probably of other proadipogenic genes, such as SREBF1 (By similarity). Binds to cytidine clusters in double-stranded DNA. May also regulate alternative splicing of target genes during adipogenesis (By similarity); RNA binding motif containing 9606.ENSP00000386439 SYNC 482 Syncoilin; Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins 9606.ENSP00000386443 TGOLN2 453 Trans-Golgi network integral membrane protein 2; May be involved in regulating membrane traffic to and from trans-Golgi network 9606.ENSP00000386444 SAG 405 S-arrestin; Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated- phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase 9606.ENSP00000386450 C7orf34 147 LLLL and CFNLAS motif-containing protein 1; Chromosome 7 open reading frame 34 9606.ENSP00000386452 C17orf104 952 Meiosis-specific coiled-coil domain-containing protein MEIOC; Is required for meiosis completion in both male and female germ cells. Confers stability to numerous meiotic mRNAs in gonads allowing proper initiation and progression into meiosis prophase I. The function may involve YTHDC2 and is independent of induction by retinoic acid (RA). Maintains an extended meiotic prophase I by properly promoting the transition from a mitotic to a meiotic cell cycle program by binding transcripts through its interaction with YTHDC2 that regulate the mitotic cell cycle 9606.ENSP00000386453 CYSRT1 184 Cysteine rich tail 1 9606.ENSP00000386456 AAK1 961 AP2-associated protein kinase 1; Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to [...] 9606.ENSP00000386458 PRPF40A 930 Pre-mRNA-processing factor 40 homolog A; Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing; Spliceosomal A complex 9606.ENSP00000386485 APOPT1 206 Apoptogenic protein 1, mitochondrial; Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade 9606.ENSP00000386488 ZC3H8 291 Zinc finger CCCH domain-containing protein 8; Acts as a transcriptional repressor of the GATA3 promoter. Sequence-specific DNA-binding factor that binds to the 5'-AGGTCTC-3' sequence within the negative cis-acting element intronic regulatory region (IRR) of the GATA3 gene (By similarity). Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Induces thymocyte apoptosis when overexpressed, which may indicate a role in regulation of thymocyte homeostasis; Zinc fingers CCCH-type 9606.ENSP00000386498 HOXD3 432 Homeobox protein Hox-D3; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000386499 PRR35 571 Proline-rich protein 35; Proline rich 35 9606.ENSP00000386502 ANKRD61 418 Ankyrin repeat domain-containing protein 61; Ankyrin repeat domain containing 9606.ENSP00000386520 RAD54L2 1467 Helicase ARIP4; DNA helicase that modulates androgen receptor (AR)- dependent transactivation in a promoter-dependent manner. Not able to remodel mononucleosomes in vitro (By similarity); Belongs to the SNF2/RAD54 helicase family 9606.ENSP00000386531 SMPD4 866 Sphingomyelin phosphodiesterase 4; Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide 9606.ENSP00000386532 ASB18 466 Ankyrin repeat and SOCS box protein 18; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000386538 TBC1D10B 808 TBC1 domain family member 10B; Acts as GTPase-activating protein for RAB3A, RAB22A, RAB27A, AND RAB35. Does not act on RAB2A and RAB6A 9606.ENSP00000386541 PSMD14 310 26S proteasome non-ATPase regulatory subunit 14; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. The PSMD14 subunit is a metalloprotease that specifically cle [...] 9606.ENSP00000386543 PREPL 727 Prolyl endopeptidase-like; Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. May play a role in the regulation of synaptic vesiscle exocytosis 9606.ENSP00000386557 C19orf24 132 Uncharacterized membrane protein C19orf24; Chromosome 19 open reading frame 24 9606.ENSP00000386559 CD8A 235 T-cell surface glycoprotein CD8 alpha chain; Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen presenting cells (APCs). In turn, recruits the Sr [...] 9606.ENSP00000386563 MORN2 79 MORN repeat-containing protein 2; Might have a role in spermatogenesis 9606.ENSP00000386588 RGPD3 1758 RanBP2-like and GRIP domain-containing protein 3; Tetratricopeptide repeat domain containing 9606.ENSP00000386597 DPAGT1 408 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase; Catalyzes the initial step in the synthesis of dolichol- P-P-oligosaccharides 9606.ENSP00000386604 C7orf31 590 Uncharacterized protein C7orf31; Chromosome 7 open reading frame 31 9606.ENSP00000386607 VSTM5 200 V-set and transmembrane domain-containing protein 5; Cell adhesion-like membrane protein of the central nervous system (CNS) which modulates both the position and complexity of central neurons by altering their membrane morphology and dynamics. Involved in the formation of neuronal dendrites and protrusions including dendritic filopodia. In synaptogenesis, regulates synapse formation by altering dendritic spine morphology and actin distribution. Promotes formation of unstable neuronal spines such as thin and branched types. Regulates neuronal morphogenesis and migration during cortical [...] 9606.ENSP00000386609 WDR81 1941 WD repeat-containing protein 81; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport. It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome. May also play a role in aggrephagy, the macroautophagic [...] 9606.ENSP00000386616 ZC3H12D 527 Probable ribonuclease ZC3H12D; May regulate cell growth likely by suppressing RB1 phosphorylation. May function as RNase and regulate the levels of target RNA species (Potential). In association with ZC3H12A enhances the degradation of interleukin IL-6 mRNA level in activated macrophages. Serve as a tumor suppressor in certain leukemia cells. Overexpression inhibits the G1 to S phase progression through suppression of RB1 phosphorylation 9606.ENSP00000386636 SSB 408 Lupus La protein; Binds to the 3' poly(U) terminus of nascent RNA polymerase III transcripts, protecting them from exonuclease digestion and facilitating their folding and maturation. In case of Coxsackievirus B3 infection, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation; La ribonucleoprotein domain containing 9606.ENSP00000386647 DFNB59 352 Pejvakin; Essential in the activity of auditory pathway neurons 9606.ENSP00000386651 MCFD2 146 Multiple coagulation factor deficiency protein 2; The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors; EF-hand domain containing 9606.ENSP00000386653 ENSG00000197991 951 Protocadherin 20; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000386655 ENSG00000257529 118 RPL36A-HNRNPH2 readthrough; Belongs to the eukaryotic ribosomal protein eL42 family 9606.ENSP00000386657 FAM183B 135 Protein FAM183BP; Family with sequence similarity 183, member B; Belongs to the FAM183 family 9606.ENSP00000386660 KDM3A 1321 Lysine-specific demethylase 3A; Histone demethylase that specifically demethylates 'Lys- 9' of histone H3, thereby playing a central role in histone code. Preferentially demethylates mono- and dimethylated H3 'Lys-9' residue, with a preference for dimethylated residue, while it has weak or no activity on trimethylated H3 'Lys-9'. Demethylation of Lys residue generates formaldehyde and succinate. Involved in hormone-dependent transcriptional activation, by participating in recruitment to androgen-receptor target genes, resulting in H3 'Lys-9' demethylation and transcriptional activation [...] 9606.ENSP00000386665 FHL2 279 Four and a half LIM domains protein 2; May function as a molecular transmitter linking various signaling pathways to transcriptional regulation. Negatively regulates the transcriptional repressor E4F1 and may function in cell growth. Inhibits the transcriptional activity of FOXO1 and its apoptotic function by enhancing the interaction of FOXO1 with SIRT1 and FOXO1 deacetylation; LIM domain containing 9606.ENSP00000386702 MYADML2 307 Myeloid-associated differentiation marker-like protein 2; Myeloid associated differentiation marker like 2 9606.ENSP00000386710 ATG9A 839 Autophagy-related protein 9A; Involved in autophagy and cytoplasm to vacuole transport (Cvt) vesicle formation. Plays a key role in the organization of the preautophagosomal structure/phagophore assembly site (PAS), the nucleating site for formation of the sequestering vesicle. Cycles between a juxta-nuclear trans-Golgi network compartment and late endosomes. Nutrient starvation induces accumulation on autophagosomes. Starvation-dependent trafficking requires ULK1, ATG13 and SUPT20H 9606.ENSP00000386711 JAKMIP1 831 Janus kinase and microtubule-interacting protein 1; Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements; Belongs to the JAKMIP family 9606.ENSP00000386717 RPL31 128 Ribosomal protein L31 9606.ENSP00000386722 FCHSD2 740 FCH and double SH3 domains 2; F-BAR domain containing 9606.ENSP00000386738 KCMF1 381 E3 ubiquitin-protein ligase KCMF1; Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination; Belongs to the KCMF1 family 9606.ENSP00000386741 CHN1 459 N-chimaerin; GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance 9606.ENSP00000386759 SETD2 2564 Histone-lysine N-methyltransferase SETD2; Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recr [...] 9606.ENSP00000386764 ZC3H6 1189 Zinc finger CCCH-type containing 6 9606.ENSP00000386766 SLC39A10 831 Zinc transporter ZIP10; May act as a zinc-influx transporter; Belongs to the ZIP transporter (TC 2.A.5) family 9606.ENSP00000386770 DNAH10 4471 Dynein heavy chain 10, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity). Probable inner arm dynein heavy chain 9606.ENSP00000386772 GPATCH11 285 G-patch domain containing 11 9606.ENSP00000386773 ENSG00000184761 149 Uncharacterized protein 9606.ENSP00000386787 KIAA0922 1610 Transmembrane protein 131-like; Isoform 1: Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation 9606.ENSP00000386788 UBE2E3 207 Ubiquitin-conjugating enzyme E2 E3; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells. May be involved in cell growth arrest; Ubiquitin conjugating enzymes E2 9606.ENSP00000386791 C21orf140 251 Uncharacterized protein C21orf140; Chromosome 21 open reading frame 140 9606.ENSP00000386796 SCN7A 1682 Sodium channel protein type 7 subunit alpha; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient 9606.ENSP00000386804 C2orf82 121 Uncharacterized protein C2orf82; Chromosome 2 open reading frame 82 9606.ENSP00000386807 C4orf48 128 Neuropeptide-like protein C4orf48; Chromosome 4 open reading frame 48 9606.ENSP00000386810 RGPD4 1758 RanBP2-like and GRIP domain-containing protein 4; Tetratricopeptide repeat domain containing 9606.ENSP00000386834 AFF3 1251 AF4/FMR2 family member 3; Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double- stranded DNA; Belongs to the AF4 family 9606.ENSP00000386840 XIRP2 3549 Xin actin-binding repeat-containing protein 2; Protects actin filaments from depolymerization; Belongs to the Xin family 9606.ENSP00000386845 ZNF385B 471 Zinc finger protein 385B; May play a role in p53/TP53-mediated apoptosis 9606.ENSP00000386857 ACTG2 376 Actin, gamma-enteric smooth muscle; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells 9606.ENSP00000386862 SH3BP4 963 SH3 domain-binding protein 4; May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin- mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy 9606.ENSP00000386869 TET3 1795 Methylcytosine dioxygenase TET3; Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5- hydroxymethylcytosine (5hmC) and plays a key role in epigenetic chromatin reprogramming in the zygote following fertilization. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate [...] 9606.ENSP00000386870 DCDC2B 349 Doublecortin domain containing 2B 9606.ENSP00000386881 DYSF 2119 Dysferlin; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity); Ferlin family 9606.ENSP00000386884 CXCR4 356 C-X-C chemokine receptor type 4; Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation. Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels. Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar developme [...] 9606.ENSP00000386894 RBM4 364 RNA-binding protein 4; RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of pre-mRNA and translation regulation. Modulates alternative 5'-splice site and exon selection. Acts as a muscle cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs. Required for the translational activation [...] 9606.ENSP00000386895 FAM124B 455 Protein FAM124B; Family with sequence similarity 124 member B; Belongs to the FAM124 family 9606.ENSP00000386896 ITGA6 1091 Integrin alpha-6; Integrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling 9606.ENSP00000386902 PTGES3L 161 Putative protein PTGES3L; Prostaglandin E synthase 3 like 9606.ENSP00000386908 MEGF11 1044 Multiple epidermal growth factor-like domains protein 11; May regulate the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements (By similarity); Belongs to the MEGF family 9606.ENSP00000386911 ARHGAP25 646 Rho GTPase-activating protein 25; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state; Pleckstrin homology domain containing 9606.ENSP00000386918 KDELR3 220 ER lumen protein-retaining receptor 3; Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor recognizes K-D-E-L (By similarity) 9606.ENSP00000386921 TBC1D14 693 TBC1 domain family member 14; Negative regulator of starvation-induced autophagosome formation 9606.ENSP00000386923 LYG1 194 Lysozyme g-like protein 1; Lysozymes, g-type 9606.ENSP00000386928 STK16 305 Serine/threonine-protein kinase 16; Membrane-associated protein kinase that phosphorylates on serine and threonine residues. In vitro substrates include DRG1, ENO1 and EIF4EBP1. Also autophosphorylates. May be involved in secretory vesicle trafficking or intracellular signaling. May have a role in regulating stromal-epithelial interactions that occur during ductal morphogenesis in the mammary gland. May be involved in TGF-beta signaling. Able to autophosphorylate on Tyr residue; it is however unclear whether it has tyrosine-protein kinase toward other proteins 9606.ENSP00000386935 UAP1L1 507 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1; UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 9606.ENSP00000386942 ST6GAL2 529 Beta-galactoside alpha-2,6-sialyltransferase 2; Transfers sialic acid from the donor of substrate CMP- sialic acid to galactose containing acceptor substrates. Has alpha-2,6-sialyltransferase activity toward oligosaccharides that have the Gal-beta-1,4-GlcNAc sequence at the non-reducing end of their carbohydrate groups, but it has weak or no activities toward glycoproteins and glycolipids; Belongs to the glycosyltransferase 29 family 9606.ENSP00000386959 CAPS2 557 Calcyphosin-2; EF-hand domain containing 9606.ENSP00000386962 CATSPERG 1159 Cation channel sperm-associated protein subunit gamma; Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization; Cation channels sperm associated 9606.ENSP00000386972 CALCRL 461 Calcitonin gene-related peptide type 1 receptor; Receptor for calcitonin-gene-related peptide (CGRP) together with RAMP1 and receptor for adrenomedullin together with RAMP3 (By similarity). Receptor for adrenomedullin together with RAMP2. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase 9606.ENSP00000386988 CC2D2B 401 Protein CC2D2B; Coiled-coil and C2 domain containing 2B 9606.ENSP00000386992 IPO11 1015 Importin-11; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis r [...] 9606.ENSP00000387006 CWC22 908 Pre-mRNA-splicing factor CWC22 homolog; Required for pre-mRNA splicing and for exon-junction complex (EJC) assembly. Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay; Belongs to the CWC22 family 9606.ENSP00000387007 NCAPG2 1156 Condensin-2 complex subunit G2; Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis; Armadillo-like helical domain containing 9606.ENSP00000387010 R3HDM1 1100 R3H domain containing 1 9606.ENSP00000387020 ARHGEF33 870 Rho guanine nucleotide exchange factor 33; May act as a guanine-nucleotide releasing factor; Rho guanine nucleotide exchange factors 9606.ENSP00000387027 C5orf52 159 Uncharacterized protein C5orf52; Chromosome 5 open reading frame 52 9606.ENSP00000387046 PPM1M 247 Protein phosphatase, Mg2+/Mn2+ dependent 1M; Belongs to the PP2C family 9606.ENSP00000387050 PLD3 490 Phospholipase D3; May be involved in APP processing; Belongs to the phospholipase D family 9606.ENSP00000387051 FAM168B 195 Myelin-associated neurite-outgrowth inhibitor; Modulates neuronal axonal outgrowth by acting as a negative regulator of CDC42 and STAT3 and a positive regulator of STMN2. Positive regulator of CDC27 (By similarity) 9606.ENSP00000387075 TRABD2A 505 Metalloprotease TIKI1; Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N- terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation 9606.ENSP00000387077 LYPD6B 207 Ly6/PLAUR domain-containing protein 6B; Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro acts on nAChRs in a subtype- and stoichiometry-dependent manner. Modulates specifally alpha-3(3):beta-4(2) nAChRs by enhancing the sensitivity to ACh, decreasing ACh-induced maximal current response and increasing the rate of desensitization to ACh; has no effect on alpha-7 homomeric nAChRs; modulates alpha-3(2):alpha- 5:beta-4(2) nAChRs in the context of CHRNA5/alpha-5 variant Asn- 398 but not its wild-type sequence; LY6/PLAUR domain containing 9606.ENSP00000387078 WDSUB1 476 WD repeat, sterile alpha motif and U-box domain containing 1 9606.ENSP00000387081 TISP43 160 Uncharacterized LOC150527 9606.ENSP00000387091 ZNF365 462 Protein ZNF365; Involved in the regulation of neurogenesis. Negatively regulates neurite outgrowth. Involved in the morphogenesis of basket cells in the somatosensory cortex during embryogenesis. Involved in the positive regulation of oligodendrocyte differentiation during postnatal growth. Involved in dendritic arborization, morphogenesis of spine density dendrite, and establishment of postsynaptic dendrite density in cortical pyramidal neurons (By similarity). Involved in homologous recombination (HR) repair pathway. Required for proper resolution of DNA double-strand breaks (DSBs) b [...] 9606.ENSP00000387100 TPRN 711 Taperin; Deafness associated genes 9606.ENSP00000387111 ENSG00000273155 131 annotation not available 9606.ENSP00000387122 CLEC16A 1053 Protein CLEC16A; Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health; Belongs to the CLEC16A/gop-1 family 9606.ENSP00000387123 ALDH7A1 539 Alpha-aminoadipic semialdehyde dehydrogenase; Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism 9606.ENSP00000387124 C2orf78 922 Uncharacterized protein C2orf78; Chromosome 2 open reading frame 78 9606.ENSP00000387128 NCKAP5 1909 NCK associated protein 5 9606.ENSP00000387159 NPPC 126 C-type natriuretic peptide; Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation. May also be vasoactive and natriuretic. Specifically binds and stimulates the cGMP production of the NPR2 receptor. Binds the clearance receptor NPR3 (By similarity); Endogenous ligands 9606.ENSP00000387164 CPVL 476 Probable serine carboxypeptidase CPVL; May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation; M14 carboxypeptidases 9606.ENSP00000387170 GIGYF2 1320 GRB10-interacting GYF protein 2; Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation. In 4EHP-GYF2 the complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, linking translation repression with mRNA decay (By similarity). May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors; Belongs to the GIGYF family 9606.ENSP00000387176 POTEJ 1038 POTE ankyrin domain family member J; In the N-terminal section; belongs to the POTE family 9606.ENSP00000387185 ATHL1 737 Protein-glucosylgalactosylhydroxylysine glucosidase; Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins 9606.ENSP00000387187 SERF2 170 Small EDRK-rich factor 2 9606.ENSP00000387209 CEP19 167 Centrosomal protein of 19 kDa; Required for ciliation. Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia. Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes 9606.ENSP00000387211 IL18R1 541 Interleukin-18 receptor 1; Within the IL18 receptor complex, responsible for the binding of the proinflammatory cytokine IL18, but not IL1A nor IL1B (Probable). Contributes to IL18-induced cytokine production, either independently of SLC12A3, or as a complex with SLC12A3 (By similarity); CD molecules 9606.ENSP00000387219 NFU1 254 NFU1 iron-sulfur cluster scaffold homolog, mitochondrial; Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins; Belongs to the NifU family 9606.ENSP00000387246 MAP3K2 619 Mitogen-activated protein kinase kinase kinase 2; Component of a protein kinase signal transduction cascade. Regulates the JNK and ERK5 pathways by phosphorylating and activating MAP2K5 and MAP2K7 (By similarity). Plays a role in caveolae kiss-and-run dynamics 9606.ENSP00000387250 PCDH13 951 Protocadherin-20; Potential calcium-dependent cell-adhesion protein; Non-clustered protocadherins 9606.ENSP00000387261 PSTPIP2 334 Proline-serine-threonine phosphatase-interacting protein 2; Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity); F-BAR domain containing 9606.ENSP00000387262 IMMT 758 MICOS complex subunit MIC60; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology 9606.ENSP00000387266 SPIRE1 756 Protein spire homolog 1; Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning and asymmetric cell division during meiosis. Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis; Belongs to the spire family 9606.ENSP00000387278 MPP4 637 MAGUK p55 subfamily member 4; May play a role in retinal photoreceptors development; Membrane associated guanylate kinases 9606.ENSP00000387282 AGFG1 584 Arf-GAP domain and FG repeat-containing protein 1; Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element- containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication; ArfGAPs 9606.ENSP00000387286 RAB1A 205 Ras-related protein Rab-1A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secreti [...] 9606.ENSP00000387292 TMEM150A 271 Transmembrane protein 150A; Regulates localization of phosphatidylinositol 4-kinase (PI4K) to the plasma membrane, possibly by reducing the association of TTC7 (TTC7A or TTC7B) with the PI4K complex. Acts as a regulator of phosphatidylinositol 4- phosphate (PtdIns(4)P) synthesis. May also play a role in fasting-induced catabolism (By similarity) 9606.ENSP00000387298 ERICH2 156 Glutamate-rich protein 2; Glutamate rich 2 9606.ENSP00000387303 TDRD9 1382 ATP-dependent RNA helicase TDRD9; ATP-binding RNA helicase required during spermatogenesis. Required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Acts downstream of piRNA biogenesis: exclusively required for transposon silencing in the nucleus, suggesting that it acts as a nuclear effecto [...] 9606.ENSP00000387307 RAB6C 254 Ras-related protein Rab-6C; May be involved in the regulation of centrosome duplication and cell cycle progression; RAB, member RAS oncogene GTPases 9606.ENSP00000387310 NOTUM 496 Palmitoleoyl-protein carboxylesterase NOTUM; Carboxylesterase that acts as a key negative regulator of the Wnt signaling pathway by specifically mediating depalmitoleoylation of WNT proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors 9606.ENSP00000387318 LRRC29 223 Leucine-rich repeat-containing protein 29; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation 9606.ENSP00000387334 NLRX1 975 NLR family member X1; Participates in antiviral signaling. Acts as a negative regulator of MAVS-mediated antiviral responses, through the inhibition of the virus-induced RLH (RIG-like helicase)-MAVS interaction. Has no inhibitory function on NF- Kappa-B and type 1 interferon signaling pathways, but enhances NF- Kappa-B and JUN N-terminal kinase dependent signaling through the production of reactive oxygen species; NLR family 9606.ENSP00000387356 ACAN 2530 Aggrecan core protein; This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region; C-type lectin domain containing 9606.ENSP00000387361 SBNO1 1393 Strawberry notch homolog 1 9606.ENSP00000387362 UBE4A 1073 Ubiquitin conjugation factor E4 A; Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates; Armadillo-like helical domain containing 9606.ENSP00000387365 PWP1 501 Periodic tryptophan protein 1 homolog; May play an important role in cell growth and/or transcription; Belongs to the WD repeat PWP1 family 9606.ENSP00000387380 NECAB1 351 N-terminal EF-hand calcium binding protein 1; EF-hand domain containing 9606.ENSP00000387426 CYHR1 362 Cysteine and histidine rich 1; Belongs to the CYHR1 family 9606.ENSP00000387435 ARTN 228 Artemin; Ligand for the GFR-alpha-3-RET receptor complex but can also activate the GFR-alpha-1-RET receptor complex. Supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue; GDNF family ligands 9606.ENSP00000387462 ZBTB10 871 Zinc finger and BTB domain-containing protein 10; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000387471 FAM96B 163 Mitotic spindle-associated MMXD complex subunit MIP18; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD; Belongs to the MIP18 family 9606.ENSP00000387498 FUT2 343 Galactoside 2-alpha-L-fucosyltransferase 2; Mediates the transfer of fucose to the terminal galactose on glycan chains of cell surface glycoproteins and glycolipids. The resulting epitope plays a role in cell-cell interaction including host-microbe interaction. Mediates interaction with intestinal microbiota influencing its composition. Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble ABO blood group antigen synthesis pathway; Belongs to the glycosyltransferase 11 family 9606.ENSP00000387523 OR7E24 339 Olfactory receptor 7E24; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000387535 IRGQ 623 Immunity-related GTPase family Q protein; Immunity related GTPase Q; Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family 9606.ENSP00000387536 PDK3 415 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species 9606.ENSP00000387549 SLC18A1 525 Chromaffin granule amine transporter; Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells; Belongs to the major facilitator superfamily. Vesicular transporter family 9606.ENSP00000387593 TANC2 1990 Protein TANC2; Tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2; Belongs to the TANC family 9606.ENSP00000387617 SMCO2 343 Single-pass membrane protein with coiled-coil domains 2 9606.ENSP00000387641 CAND2 1236 Cullin-associated NEDD8-dissociated protein 2; Probable assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes; Belongs to the CAND family 9606.ENSP00000387654 PCYOX1 505 Prenylcysteine oxidase 1; Involved in the degradation of prenylated proteins. Cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine 9606.ENSP00000387662 GCG 180 Glucagon; Glicentin may modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life; Belongs to the glucagon family 9606.ENSP00000387673 ZNF612 643 Zinc finger protein 23; May be involved in transcriptional regulation. May have a role in embryonic development; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000387683 UGT2B11 529 UDP-glucuronosyltransferase 2B11; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000387694 SLC12A5 1139 Solute carrier family 12 member 5; Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation; Solute carriers 9606.ENSP00000387699 CREB1 341 Cyclic AMP-responsive element-binding protein 1; Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-133 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells; Basic leucine zipper proteins 9606.ENSP00000387710 TARS 756 Threonine--tRNA ligase, cytoplasmic; Aminoacyl tRNA synthetases, Class II 9606.ENSP00000387739 AMOTL1 956 Angiomotin-like protein 1; Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus; Belongs to the angiomotin family 9606.ENSP00000387757 HIC2 615 Hypermethylated in cancer 2 protein; Transcriptional repressor; BTB domain containing 9606.ENSP00000387760 ENSG00000264813 739 Angiotensin-converting enzyme; Uncharacterized protein 9606.ENSP00000387784 SOS1 1333 Son of sevenless homolog 1; Promotes the exchange of Ras-bound GDP by GTP. Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF. Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity); Pleckstrin homology domain containing 9606.ENSP00000387822 BRDT 951 Bromodomain testis-specific protein; Testis-specific chromatin protein that specifically binds histone H4 acetylated at 'Lys-5' and 'Lys-8' (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis. Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time. In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA. Also re [...] 9606.ENSP00000387875 KIF4B 1234 Chromosome-associated kinesin KIF4B; Motor protein that translocates PRC1 to the plus ends of interdigitating spindle microtubules during the metaphase to anaphase transition, an essential step for the formation of an organized central spindle midzone and midbody and for successful cytokinesis. May play a role in mitotic chromosomal positioning and bipolar spindle stabilization (By similarity); Kinesins 9606.ENSP00000387882 TC2N 490 Synaptotagmin like tandem C2 proteins 9606.ENSP00000387888 ENSG00000173610 527 UDP-glucuronosyltransferase 2A1; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000387907 ANKUB1 544 Protein ANKUB1; Ankyrin repeat and ubiquitin domain containing 1 9606.ENSP00000387911 PARN 639 Poly(A)-specific ribonuclease PARN; 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. Interacts with both the 3'-end poly(A) tail and the 5'-end cap structure during degradation, the interaction with the cap structure being required for an efficient degradation of poly(A) tails. Involved in nonsens [...] 9606.ENSP00000387941 IFFO2 517 Intermediate filament family orphan 2; Belongs to the intermediate filament family 9606.ENSP00000387982 WDR73 378 WD repeat-containing protein 73; May play a role in the regulation of microtubule organization and dynamics; WD repeat domain containing 9606.ENSP00000388001 OAS1 414 2'-5'-oligoadenylate synthase 1; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition [...] 9606.ENSP00000388094 KRBOX1 128 KRAB box domain containing 1 9606.ENSP00000388107 UBA52 128 Ubiquitin-60S ribosomal protein L40; Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be invo [...] 9606.ENSP00000388137 MPPED1 326 Metallophosphoesterase domain-containing protein 1; May have metallophosphoesterase activity (in vitro) 9606.ENSP00000388169 ARPC4 187 Actin-related protein 2/3 complex subunit 4; Functions as actin-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Seems to contact the mother actin filament 9606.ENSP00000388207 RNF148 305 Ring finger protein 148 9606.ENSP00000388223 ENSG00000249624 333 annotation not available 9606.ENSP00000388241 KIF26A 1882 Kinesin-like protein KIF26A; Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling. Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. KIF26 subfamily 9606.ENSP00000388275 AGBL3 920 Cytosolic carboxypeptidase 3; Metallocarboxypeptidase that mediates both deglutamylation and deaspartylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates or polyaspartates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy- terminus of tubulin; M14 carboxypeptidases 9606.ENSP00000388293 TSTD1 115 Thiosulfate:glutathione sulfurtransferase; Thiosulfate:glutathione sulfurtransferase (TST) required to produce glutathione persulfide (GSS(-)), a central intermediate in hydrogen sulfide metabolism. Provides the link between the first step in mammalian H(2)S metabolism performed by the sulfide:quinone oxidoreductase (SQOR) which catalyzes the conversion of H(2)S to thiosulfate, and the sulfur dioxygenase (SDO) which uses GSS(-) as substrate. The thermodynamic coupling of the irreversible SDO and reversible TST reactions provides a model for the physiologically relevant reaction with th [...] 9606.ENSP00000388299 TRIM49C 452 Tripartite motif containing 49C; Ring finger proteins 9606.ENSP00000388311 ZNF845 970 Zinc finger protein 845; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000388320 CTU2 515 Cytoplasmic tRNA 2-thiolation protein 2; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position 9606.ENSP00000388325 LAMB2 1798 Laminin subunit beta-2; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000388337 SEC61G 68 Protein transport protein Sec61 subunit gamma; Necessary for protein translocation in the endoplasmic reticulum; Belongs to the SecE/SEC61-gamma family 9606.ENSP00000388402 ZFP36L1 338 mRNA decay activator protein ZFP36L1; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated [...] 9606.ENSP00000388431 TMEM251 169 Transmembrane protein 251; Belongs to the TMEM251 family 9606.ENSP00000388502 ZNF583 569 Zinc finger protein 583; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000388510 RARG 454 Retinoic acid receptor gamma; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. Required for limb bud development. In concert with RARA or RARB, required for skeletal [...] 9606.ENSP00000388550 RNF24 169 RING finger protein 24; May play a role in TRPCs intracellular trafficking; Ring finger proteins 9606.ENSP00000388552 RBM14-RBM4 339 RNA-binding protein 14; RBM14-RBM4 readthrough 9606.ENSP00000388566 CASP4 377 Caspase-4; Inflammatory caspase. Essential effector of NLRP3 inflammasome- dependent CASP1 activation and IL1B and IL18 secretion in response to non-canonical activators, such as UVB radiation, cholera enterotoxin subunit B and cytosolic LPS. Independently of NLRP3 inflammasome and CASP1, promotes pyroptosis, through GSDMD cleavage and activation, and IL1A, IL18 and HMGB1 release in response to non-canonical inflammasome activators. Plays a crucial role in the restriction of Salmonella typhimurium replication in colonic epithelial cells during infection. In later stages of the infectio [...] 9606.ENSP00000388620 EOMES 705 Eomesodermin homolog; Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes; T-boxes 9606.ENSP00000388631 PLCD4 762 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4; Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida- induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneratio [...] 9606.ENSP00000388638 RBM17 401 Splicing factor 45; Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia; G-patch domain containing 9606.ENSP00000388648 CHEK1 476 Serine/threonine-protein kinase Chk1; Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome. Recognizes the substrate consensus sequence [R-X-X-S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at 'Ser-178' and 'Thr-507' and pho [...] 9606.ENSP00000388658 SLC25A12 678 Calcium-binding mitochondrial carrier protein Aralar1; Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000388684 TMEM247 219 Transmembrane protein 247 9606.ENSP00000388713 LANCL1 399 LanC-like protein 1; May play a role in EPS8 signaling. Binds glutathione 9606.ENSP00000388723 KBTBD13 458 Kelch repeat and BTB domain-containing protein 13; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex; BTB domain containing 9606.ENSP00000388731 SSFA2 1259 Sperm specific antigen 2 9606.ENSP00000388806 EIF4B 616 Eukaryotic translation initiation factor 4B; Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5'- terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F 9606.ENSP00000388823 NSG1 185 Neuronal vesicle trafficking-associated protein 1; Plays a role in the recycling mechanism in neurons of multiple receptors, including AMPAR, APP and L1CAM and acts at the level of early endosomes to promote sorting of receptors toward a recycling pathway. Regulates sorting and recycling of GRIA2 through interaction with GRIP1 and then contributes to the regulation of synaptic transmission and plasticity by affecting the recycling and targeting of AMPA receptors to the synapse (By similarity). Is required for faithful sorting of L1CAM to axons by facilitating trafficking from somatoden [...] 9606.ENSP00000388825 MLN 115 Promotilin; Plays an important role in the regulation of interdigestive gastrointestinal motility and indirectly causes rhythmic contraction of duodenal and colonic smooth muscle; Endogenous ligands 9606.ENSP00000388850 PNMA5 448 Paraneoplastic antigen-like protein 5; Paraneoplastic Ma antigens; Belongs to the PNMA family 9606.ENSP00000388864 ZNF419 511 Zinc finger protein 419; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000388878 KIF25 384 Kinesin-like protein KIF25; Minus-end microtubule-dependent motor protein (By similarity). Acts as a negative regulator of centrosome separation required to prevent premature centrosome separation during interphase. Required to maintain a centered nucleus to ensure that the spindle is stably oriented at the onset of mitosis. May also act as a negative regulator of amino acid starvation-induced autophagy; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family 9606.ENSP00000388895 SPATA3 192 Spermatogenesis-associated protein 3; Spermatogenesis associated 3 9606.ENSP00000388909 C17orf62 187 Uncharacterized protein C17orf62; Chromosome 17 open reading frame 62 9606.ENSP00000388910 NFATC4 964 Nuclear factor of activated T-cells, cytoplasmic 4; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 and IL- 4. Transcriptionally repressed by estrogen receptors; this inhibition is further enhanced by estrogen. Increases the transcriptional activity of PPARG and has a direct role in adipocyte differentiation. May play an important role in myotube differentiation. May play a critical role in cardiac development and hypertrophy. May play a role in deafferentation-induced apoptosis of sensory neurons; Nuclear factors of activa [...] 9606.ENSP00000388920 RWDD4 188 RWD domain containing 4 9606.ENSP00000388940 TCF12 706 Transcription factor 12; Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'); Basic helix-loop-helix proteins 9606.ENSP00000388942 SCRN1 434 Secernin-1; Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium (By similarity) 9606.ENSP00000388996 AP1M1 435 AP-1 complex subunit mu-1; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules 9606.ENSP00000389009 CARNS1 950 Carnosine synthase 1; Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine 9606.ENSP00000389014 C5orf42 3197 Protein JBTS17; Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity) 9606.ENSP00000389015 SBK2 348 Serine/threonine-protein kinase SBK2; SH3 domain binding kinase family member 2 9606.ENSP00000389026 CRISP3 268 Cysteine rich secretory protein family; Belongs to the CRISP family 9606.ENSP00000389060 MMADHC 296 Methylmalonic aciduria and homocystinuria type D protein, mitochondrial; Involved in cobalamin metabolism. Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin. Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin. Promotes oxidation of cob(II)alamin bound to MMACHC 9606.ENSP00000389072 OR10G8 311 Olfactory receptor 10G8; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000389103 RPL23A 156 60S ribosomal protein L23a; This protein binds to a specific region on the 26S rRNA; Belongs to the universal ribosomal protein uL23 family 9606.ENSP00000389111 C1orf233 226 Fibronectin type III domain-containing protein 10; Chromosome 1 open reading frame 233 9606.ENSP00000389140 DCC 1447 Netrin receptor DCC; Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene; Fibronectin type III domain containing 9606.ENSP00000389160 NDUFA11 228 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000389168 PPP1R12A 1030 Protein phosphatase 1 regulatory subunit 12A; Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN- dependent suppression of HIF1A activity; Ankyrin repeat domain containing 9606.ENSP00000389175 GLYCTK 523 Glycerate kinase; Belongs to the glycerate kinase type-2 family 9606.ENSP00000389176 C1GALT1 363 Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1; Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development; Belongs to the glycosyltransferase 31 family. Beta3- Gal-T subfamily 9606.ENSP00000389182 RPP30 322 Ribonuclease P protein subunit p30; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends 9606.ENSP00000389237 NBPF4 638 Neuroblastoma breakpoint family member 4; NBPF member 4 9606.ENSP00000389241 DHRS9 379 Dehydrogenase/reductase SDR family member 9; 3-alpha-hydroxysteroid dehydrogenase that converts 3- alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone. May play a role in the biosynthesis of retinoic acid from retinaldehyde, but seems to have low activity with retinoids. Can utilize both NADH and NADPH; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000389243 ENSG00000273303 121 Zinc finger protein with KRAB and SCAN domains 7 9606.ENSP00000389252 NPNT 595 Nephronectin; Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha- 8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity) 9606.ENSP00000389255 HCAR1 346 Hydroxycarboxylic acid receptor 1; Acts as a receptor for L-lactate and mediates its anti- lipolytic effect through a G(i)-protein-mediated pathway; Hydroxy-carboxylic acid receptors 9606.ENSP00000389275 ENSG00000233024 369 LOC339047 protein; Nuclear pore complex-interacting protein family member A5; Protein LOC101930008 9606.ENSP00000389277 TMBIM6 295 Bax inhibitor 1; Suppressor of apoptosis. Modulates unfolded protein response signaling. Modulates ER calcium homeostasis by acting as a calcium-leak channel. Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity); Transmembrane BAX inhibitor motif containing 9606.ENSP00000389289 AKR1B15 344 Aldo-keto reductase family 1 member B15; Isoform 1: Mainly acts as a reductive enzyme that catalyzes the reduction of androgens and estrogens with high positional selectivity (shows 17-beta-hydroxysteroid dehydrogenase activity) as well as 3-keto-acyl-CoAs. Has a strong selectivity towards NADP(H); Belongs to the aldo/keto reductase family 9606.ENSP00000389326 ACE2 805 Angiotensin-converting enzyme 2; Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin- 13 and dynorphin-13 with high efficiency. May be an important regulator of heart function 9606.ENSP00000389377 NFATC1 943 Nuclear factor of activated T-cells, cytoplasmic 1; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells. Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity); Nuclear factors of activated T-cells 9606.ENSP00000389381 YY2 372 Transcription factor YY2; Functions as a multifunctional transcription factor that may exhibit positive and negative control on a large number of genes. May antagonize YY1 and function in development and differentiation 9606.ENSP00000389395 GPAT2 795 Glycerol-3-phosphate acyltransferase 2, mitochondrial; Esterifies acyl-group from acyl-ACP to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Required for primary processing step during piRNA biosynthesis. Molecular mechanisms by which it promotes piRNA biosynthesis are unclear and do not involve its acyltransferase activity; Belongs to the GPAT/DAPAT family 9606.ENSP00000389399 TMCO3 677 Transmembrane and coiled-coil domain-containing protein 3; Probable Na(+)/H(+) antiporter; Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) family 9606.ENSP00000389414 TBXAS1 580 Thromboxane-A synthase; Cytochrome P450 family 5 9606.ENSP00000389427 CEP44 399 Centrosomal protein 44 9606.ENSP00000389443 USP17L12 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 12; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000389445 UBAP2L 1087 Ubiquitin-associated protein 2-like; Plays an important role in the activity of long-term repopulating hematopoietic stem cells (LT-HSCs) 9606.ENSP00000389455 DIRC3 131 Disrupted in renal carcinoma 3 9606.ENSP00000389466 TGM7 710 Protein-glutamine gamma-glutamyltransferase Z; Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins; Belongs to the transglutaminase superfamily. Transglutaminase family 9606.ENSP00000389475 C3orf79 100 Putative uncharacterized protein C3orf79; Chromosome 3 open reading frame 79 9606.ENSP00000389513 CT47A4 288 Cancer/testis antigen family 47, member A4 9606.ENSP00000389554 C2CD4D 353 C2 calcium-dependent domain-containing protein 4D; C2 calcium dependent domain containing 4D 9606.ENSP00000389588 SEMA5B 1205 Semaphorin-5B; May act as positive axonal guidance cues; Semaphorins 9606.ENSP00000389600 TLR6 796 Toll-like receptor 6; Participates in the innate immune response to Gram- positive bacteria and fungi. Specifically recognizes diacylated and, to a lesser extent, triacylated lipopeptides. In response to diacylated lipopeptides, forms the activation cluster TLR2:TLR6:CD14:CD36, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), s [...] 9606.ENSP00000389625 OR2M3 312 Olfactory receptor 2M3; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000389630 DPY19L4 723 Probable C-mannosyltransferase DPY19L4; Probable C-mannosyltransferase that mediates C- mannosylation of tryptophan residues on target proteins 9606.ENSP00000389631 ARPC1B 372 Actin-related protein 2/3 complex subunit 1B; Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks; Belongs to the WD repeat ARPC1 family 9606.ENSP00000389649 ATP5J 116 ATP synthase-coupling factor 6, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of t [...] 9606.ENSP00000389709 RNF212 297 Probable E3 SUMO-protein ligase RNF212; SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with [...] 9606.ENSP00000389714 CTNNA3 895 Catenin alpha-3; May be involved in formation of stretch-resistant cell- cell adhesion complexes; Alpha catenins 9606.ENSP00000389715 KSR2 921 Kinase suppressor of Ras 2; Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8- mediated signaling. Acts as a negative regulator of MAP3K3- mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family 9606.ENSP00000389745 CYB561A3 263 Cytochrome b ascorbate-dependent protein 3; Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm. Probably uses ascorbate as electron donor (By similarity); Cytochrome b561 9606.ENSP00000389760 GATS 163 Putative protein GATS; GATS, stromal antigen 3 opposite strand; Belongs to the GATS family 9606.ENSP00000389787 PLEKHF1 279 Pleckstrin homology domain-containing family F member 1; May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase- independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8; Pleckstrin homology domain containing 9606.ENSP00000389810 DSN1 356 Kinetochore-associated protein DSN1 homolog; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis 9606.ENSP00000389813 ACAD10 1090 Acyl-CoA dehydrogenase family member 10; Acyl-CoA dehydrogenase only active with R- and S-2- methyl-C15-CoA 9606.ENSP00000389814 ADIPOQ 244 Adiponectin; Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis [...] 9606.ENSP00000389841 ZNF852 543 Zinc finger protein 852; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000389843 SLC38A4 547 Sodium-coupled neutral amino acid transporter 4; Sodium-dependent amino acid transporter. Mediates electrogenic symport of neutral amino acids and sodium ions. Has a broad specificity, with a preference for Ala, followed by His, Cys, Asn, Ser, Gly, Val, Thr, Gln and Met. May mediate sodium- independent transport of cationic amino acids, such as Arg and Lys. Amino acid uptake is pH-dependent, with low transport activities at pH 6.5, intermediate at pH 7.0 and highest between pH 7.5 and 8.5; Solute carriers 9606.ENSP00000389870 DLX3 287 Homeobox protein DLX-3; Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis; Belongs to the distal-less homeobox family 9606.ENSP00000389900 DCUN1D4 336 DCN1-like protein 4; Defective in cullin neddylation 1 domain containing 4 9606.ENSP00000389903 LETMD1 373 LETM1 domain-containing protein 1; Involved in tumorigenesis and may function as a negative regulator of the p53/TP53; Solute carriers 9606.ENSP00000389910 RCBTB2 556 RCC1 and BTB domain containing protein 2 9606.ENSP00000389913 PLEKHM1 1056 Pleckstrin homology domain-containing family M member 1; Proposed to act as a multivalent adapter protein that regulates Rab7-dependent and HOPS complex-dependent fusion events in the endolysosomal system and couples autophagic and the endocytic trafficking pathways. Required for late stages of endolysosomal maturation, facilitating both endocytosis-mediated degradation of growth factor receptors and autophagosome clearance. Seems to be involved in the terminal maturation of autophagosomes and to mediate autophagosome-lysosome fusion. Positively regulates lysosome peripheral distributi [...] 9606.ENSP00000389948 NT5C3B 300 7-methylguanosine phosphate-specific 5'-nucleotidase; Specifically hydrolyzes 7-methylguanosine monophosphate (m(7)GMP) to 7-methylguanosine and inorganic phosphate. The specific activity for m(7)GMP may protect cells against undesired salvage of m(7)GMP and its incorporation into nucleic acids. Also has weak activity for CMP. UMP and purine nucleotides are poor substrates 9606.ENSP00000389998 TMEM67 995 Meckelin; Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC) 9606.ENSP00000390011 CTU1 348 Cytoplasmic tRNA 2-thiolation protein 1; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Directly binds tRNAs and probably acts by catalyzing adenylation of tRNAs, an intermediate required for 2-thiolation. It is unclear whether it acts as a sulfurtransferase that transfers sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position 9606.ENSP00000390020 HLA-DOB 273 HLA class II histocompatibility antigen, DO beta chain; Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM 9606.ENSP00000390070 CT47A5 288 Cancer/testis antigen family 47, member A5 9606.ENSP00000390076 ZSCAN31 406 Zinc finger and SCAN domain-containing protein 31; May function as a transcription factor. May be involved in the development of multiple embryonic organs; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000390084 SHISA6 551 Protein shisa-6 homolog; Shisa family member 6 9606.ENSP00000390111 PLSCR5 271 Phospholipid scramblase family member 5; Belongs to the phospholipid scramblase family 9606.ENSP00000390158 HERC1 4861 Probable E3 ubiquitin-protein ligase HERC1; Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin- protein ligase which accepts ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates; WD repeat domain containing 9606.ENSP00000390179 ZNF527 609 Zinc finger protein 527; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000390204 HEPACAM2 485 HEPACAM family member 2; Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation; I-set domain containing 9606.ENSP00000390232 ZBBX 839 Zinc finger B-box domain containing 9606.ENSP00000390265 IDH1 414 Isocitrate dehydrogenase 1, cytosolic 9606.ENSP00000390331 ENSG00000239789 225 HCG1984214, isoform CRA_a; Mitochondrial ribosomal protein S17 9606.ENSP00000390407 TMEM213 107 Transmembrane protein 213 9606.ENSP00000390410 GPR141 305 Probable G-protein coupled receptor 141; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000390423 CATSPER4 472 Cation channel sperm-associated protein 4; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte; Belongs to the cation channel sperm-associated (TC 1.A.1.19) family 9606.ENSP00000390431 HLA-DQB2 227 Major histocompatibility complex, class II, DQ beta 2; Belongs to the MHC class II family 9606.ENSP00000390436 GLI2 1586 Zinc finger protein GLI2; Functions as transcription regulator in the hedgehog (Hh) pathway. Functions as transcriptional activator. May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development; Zinc fingers C2H2-type 9606.ENSP00000390475 CXXC1 660 CXXC-type zinc finger protein 1; Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG; PHD finger proteins 9606.ENSP00000390564 SLC16A5 505 Monocarboxylate transporter 6; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family 9606.ENSP00000390590 DDN 711 Dendrin; Promotes apoptosis of kidney glomerular podocytes. Podocytes are highly specialized cells essential to the ultrafiltration of blood, resulting in the extraction of urine and the retention of protein (By similarity) 9606.ENSP00000390600 SCN10A 1956 Sodium channel protein type 10 subunit alpha; Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium- selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms; Sodium voltage-gated channel alpha subunits 9606.ENSP00000390613 BTNL2 482 Butyrophilin-like protein 2; Negative regulator of T-cell proliferation; Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000390621 TDRD12 395 Putative ATP-dependent RNA helicase TDRD12; Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary [...] 9606.ENSP00000390625 HNRNPLL 542 Heterogeneous nuclear ribonucleoprotein L-like; RNA-binding protein that functions as regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. Required for alternative splicing of PTPRC 9606.ENSP00000390630 RIMBP3C 1639 RIMS binding protein 3C; Belongs to the RIMBP family 9606.ENSP00000390637 SLC14A1 445 Urea transporter 1; Urea channel that facilitates transmembrane urea transport down a concentration gradient. A constriction of the transmembrane channel functions as selectivity filter through which urea is expected to pass in dehydrated form. The rate of urea conduction is increased by hypotonic stress. Plays an important role in the kidney medulla collecting ducts, where it allows rapid equilibration between the lumen of the collecting ducts and the interstitium, and thereby prevents water loss driven by the high concentration of urea in the urine. Facilitates urea transport across [...] 9606.ENSP00000390651 IRAK4 460 Interleukin-1 receptor-associated kinase 4; Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino- mediated polyubiquit [...] 9606.ENSP00000390661 CLEC2L 214 C-type lectin domain family 2 member L 9606.ENSP00000390722 SLC25A17 307 Peroxisomal membrane protein PMP34; Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'- diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter- exchange mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro; Belongs to the mitochondrial carri [...] 9606.ENSP00000390762 ENSG00000064489 365 Myocyte-specific enhancer factor 2B; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription 9606.ENSP00000390778 MEIOB 471 Meiosis-specific with OB domain-containing protein; Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3'-5' exonuclease activity i [...] 9606.ENSP00000390783 SCFD1 642 Sec1 family domain-containing protein 1; Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity) 9606.ENSP00000390784 B3GALT4 378 Beta-1,3-galactosyltransferase 4; Involved in GM1/GD1B/GA1 ganglioside biosynthesis; Beta 3-glycosyltransferases 9606.ENSP00000390849 ABHD5 349 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. Regulates lipid droplet fusion (By similarity); Abhydrolase domain containing 9606.ENSP00000390932 LRRC23 343 Leucine-rich repeat-containing protein 23; Leucine rich repeat containing 23 9606.ENSP00000390941 ATCAY 371 Caytaxin; Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites; BCH domain containing 9606.ENSP00000391085 GOLGA6D 693 Golgin A6 family member D; Belongs to the GOLGA6 family 9606.ENSP00000391088 UNC80 3258 Protein unc-80 homolog; Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium 9606.ENSP00000391101 SLFN14 912 Protein SLFN14; Protein SLFN14: Shows no ribosome-associated and endoribonuclease activities; Belongs to the Schlafen family 9606.ENSP00000391121 RDH13 331 Retinol dehydrogenase 13; Does not exhibit retinol dehydrogenase (RDH) activity in vitro; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000391137 ASB10 467 Ankyrin repeat and SOCS box protein 10; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Ankyrin repeat domain containing 9606.ENSP00000391167 DENND4A 1906 C-myc promoter-binding protein; Probable guanine nucleotide exchange factor (GEF) which may activate RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form. According to PubMed:8056341, it may bind to ISRE-like element (interferon-stimulated response element) of MYC P2 promoter; DENN/MADD domain containing 9606.ENSP00000391200 ZNF692 524 Zinc finger protein 692; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000391209 CYB561D2 222 Cytochrome b561 family member D2 9606.ENSP00000391211 PSMC2 433 26S proteasome regulatory subunit 7; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC2 belongs to the heterohexameric ring of AAA (ATPases associated with [...] 9606.ENSP00000391227 MGAT5B 801 Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B; Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N- acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAcbeta1,2-Manalpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAcbeta1,2-Manalpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of [...] 9606.ENSP00000391249 SEPT9 586 Septin-9; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri; Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. Septin GTPase family 9606.ENSP00000391299 SAMD7 446 Sterile alpha motif domain-containing protein 7; Involved in the regulation of gene expression in the retina. It functions as a negative regulator of CRX-controlled genes; Sterile alpha motif domain containing 9606.ENSP00000391311 SEPT5 369 Septin-5; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. Septin GTPase family 9606.ENSP00000391397 MT1G 61 Metallothionein-1G; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids 9606.ENSP00000391404 C4orf51 202 Uncharacterized protein C4orf51; Chromosome 4 open reading frame 51 9606.ENSP00000391409 CDHR4 788 Cadherin-related family member 4; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (By similarity) 9606.ENSP00000391457 INO80C 228 Chromosome 18 open reading frame 37, isoform CRA_a; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair 9606.ENSP00000391481 TKT 631 Transketolase; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate; Belongs to the transketolase family 9606.ENSP00000391488 PNMA6A 399 Paraneoplastic antigen-like protein 6A; Paraneoplastic Ma antigens; Belongs to the PNMA family 9606.ENSP00000391490 AGR2 175 Anterior gradient protein 2 homolog; Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells (By similarity). Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion; Protein disulfide isomerases 9606.ENSP00000391498 KCNK16 322 Potassium channel subfamily K member 16; Outward rectifying potassium channel. Produces rapidly activating and non-inactivating outward rectifier K(+) currents; Potassium two pore domain channel subfamily K 9606.ENSP00000391504 CCDC173 552 Coiled-coil domain containing 173 9606.ENSP00000391524 DENND6B 585 Protein DENND6B; Guanine nucleotide exchange factor (GEF) for RAB14. Also has some, lesser GEF activity towards RAB35; DENN/MADD domain containing 9606.ENSP00000391549 SMIM19 107 Small integral membrane protein 19 9606.ENSP00000391583 PARVG 331 Gamma-parvin; Probably plays a role in the regulation of cell adhesion and cytoskeleton organization; Belongs to the parvin family 9606.ENSP00000391592 PTPN6 624 Tyrosine-protein phosphatase non-receptor type 6; Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II stimulation. Plays a key role in hematopoiesis; Protein tyrosine phosphatases, non-receptor type 9606.ENSP00000391594 ERV3-1 604 Endogenous retrovirus group 3 member 1 Env polyprotein; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its fusogenic properties. It can inhibit cell growth through decrease expression of cyclin B1 and increased expression of p21 in vitro; Envelope ERV derived genes 9606.ENSP00000391596 AMDHD2 594 N-acetylglucosamine-6-phosphate deacetylase; Hydrolyzes the N-glycolyl group from N- glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N- glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded; Belongs to the metallo-dependent hydrolases superfamily. NagA family 9606.ENSP00000391601 PEX5 660 Peroxisomal targeting signal 1 receptor; Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import 9606.ENSP00000391641 ZNF780B 833 Zinc finger protein 780B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000391664 ENSG00000235718 579 Membrane frizzled-related protein; May play a role in eye development 9606.ENSP00000391668 MTMR11 709 Myotubularin-related protein 11; Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential); Myotubularins 9606.ENSP00000391669 BCAR1 916 Breast cancer anti-estrogen resistance protein 1; Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion. Implicated in induction of cell migration. Overexpression confers antiestrogen resistance on breast cancer cells; Cas scaffolding proteins 9606.ENSP00000391676 JAK3 1124 Tyrosine-protein kinase JAK3; Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails o [...] 9606.ENSP00000391692 CCDC103 242 Coiled-coil domain containing 103; Dynein-attachment factor required for cilia motility; Belongs to the CCDC103/PR46b family 9606.ENSP00000391723 PUM1 1188 Pumilio homolog 1; Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3'-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5'-UGUANAUA-3', that is related to the Nanos Response Element (NRE). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation. Also mediates deadenylation-independent repression by promoting accessibility of miRNAs. Following growth fa [...] 9606.ENSP00000391747 LACC1 430 Laccase domain-containing protein 1; Central regulator of the metabolic function and bioenergetic state of macrophages. In macrophages, promotes flux through de novo lipogenesis to concomitantly drive high levels of both fatty-acid oxidation and glycolysis; Belongs to the LACC1 family 9606.ENSP00000391748 PILRB 227 Paired immunoglobin-like type 2 receptor beta; Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface; V-set domain containing 9606.ENSP00000391788 CCDC36 594 Interactor of HORMAD1 protein 1; Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance 9606.ENSP00000391800 APLN 122 Apelin; Endogenous ligands 9606.ENSP00000391806 ENSG00000250264 843 Uncharacterized protein; Belongs to the MHC class II family 9606.ENSP00000391826 IGF2 236 Insulin-like growth factor II; The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF-II is influenced by placental lactogen. Also involved in tissue differentiation. Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable) 9606.ENSP00000391869 FAM187A 242 Coiled-coil domain-containing protein 103; Dynein-attachment factor required for cilia motility; Belongs to the CCDC103/PR46b family 9606.ENSP00000391942 NECAP2 273 Adaptin ear-binding coat-associated protein 2; Involved in endocytosis 9606.ENSP00000391950 ANKRD36 1941 Ankyrin repeat domain-containing protein 36A; Ankyrin repeat domain containing 9606.ENSP00000392024 ZNF844 666 Zinc finger protein 844; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000392025 CYLD 956 Ubiquitin carboxyl-terminal hydrolase CYLD; Deubiquitinase that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Has endodeubiquitinase activity. Plays an important role in the regulation of pathways leading to NF-kappa-B activation. Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation. Negative regulator of Wnt signaling. Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules. Plays a role in the regulation of microtubule dynamics, and thereby contributes to the [...] 9606.ENSP00000392028 CHD7 2997 Chromodomain-helicase-DNA-binding protein 7; Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production; DNA helicases 9606.ENSP00000392043 ATP2B1 1220 Plasma membrane calcium-transporting ATPase 1; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell; ATPases Ca2+ transporting 9606.ENSP00000392065 REPS1 796 RalBP1-associated Eps domain-containing protein 1; May coordinate the cellular actions of activated EGF receptors and Ral-GTPases; EF-hand domain containing 9606.ENSP00000392066 DIP2A 1571 Disco-interacting protein 2 homolog A; May provide positional cues for axon pathfinding and patterning in the central nervous system 9606.ENSP00000392094 EFTUD2 972 116 kDa U5 small nuclear ribonucleoprotein component; Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily 9606.ENSP00000392105 C1orf106 578 Innate immunity activator protein; Expressed in peripheral macrophages and intestinal myeloid-derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF- kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion 9606.ENSP00000392147 PPP6C 342 Protein phosphatase 6 catalytic subunit 9606.ENSP00000392189 KRTAP9-3 159 Keratin-associated protein 9-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000392204 KLLN 178 Killin; DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single- stranded DNA 9606.ENSP00000392206 AGAP10 658 ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 9606.ENSP00000392252 TTLL8 850 Protein monoglycylase TTLL8; Monoglycylase which modifies both tubulin and non- tubulin proteins, generating side chains of glycine on the gamma- carboxyl groups of specific glutamate residues of target proteins. Monoglycylates tubulin, with a preference for alpha-tubulin toward beta-tubulin. Has the ability to modify non-tubulin proteins such as ANP32A, ANP32B, SET and NCL. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction (By simil [...] 9606.ENSP00000392257 PPIL6 337 Peptidyl-prolyl cis-trans isomerase-like 6; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Cyclophilin peptidylprolyl isomerases 9606.ENSP00000392270 STRAP 350 Serine-threonine kinase receptor-associated protein; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICl [...] 9606.ENSP00000392283 CT47A7 288 Cancer/testis antigen family 47, member A7 9606.ENSP00000392316 IFRD2 442 Interferon related developmental regulator 2; Armadillo-like helical domain containing 9606.ENSP00000392318 CSRP2BP 782 Cysteine-rich protein 2-binding protein; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle 9606.ENSP00000392330 BCAP31 313 B-cell receptor-associated protein 31; Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8- mediated apoptosis 9606.ENSP00000392335 ZNF487 208 Putative zinc finger protein 487; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000392353 PSMG4 162 Proteasome assembly chaperone 4 9606.ENSP00000392368 C14orf105 336 Uncharacterized protein CCDC198; Chromosome 14 open reading frame 105 9606.ENSP00000392371 ZSCAN30 494 Zinc finger and SCAN domain-containing protein 30; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000392395 CHFR 664 E3 ubiquitin-protein ligase CHFR; E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the 'Lys-48'-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA [...] 9606.ENSP00000392398 GPX5 221 Epididymal secretory glutathione peroxidase; Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione. May constitute a glutathione peroxidase-like protective system against peroxide damage in sperm membrane lipids 9606.ENSP00000392407 PRR20D 221 Proline rich 20D 9606.ENSP00000392410 ZNF587B 402 Zinc finger protein 587B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000392411 SLC13A2 641 Solute carrier family 13 member 2; Cotransport of sodium ions and dicarboxylates such as succinate and citrate; Solute carriers 9606.ENSP00000392423 RELN 3460 Reelin; Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation (By similarity); Belongs to the reel [...] 9606.ENSP00000392452 FAM219A 185 Protein FAM219A; Family with sequence similarity 219 member A 9606.ENSP00000392466 LDB1 411 LIM domain-binding protein 1; Binds to the LIM domain of a wide variety of LIM domain- containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state (By similarity) 9606.ENSP00000392495 TRAPPC2 174 Trafficking protein particle complex subunit 2; Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. Sedlin subfamily 9606.ENSP00000392500 NLGN1 823 Neuroligin-1; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and [...] 9606.ENSP00000392511 PRRT3 981 Proline rich transmembrane protein 3 9606.ENSP00000392513 AGAP4 663 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4; Putative GTPase-activating protein; Ankyrin repeat domain containing 9606.ENSP00000392549 TTLL3 915 Tubulin monoglycylase TTLL3; Monoglycylase which modifies alpha- and beta-tubulin, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction; Tubulin tyrosine ligase family 9606.ENSP00000392553 PPAPDC1B 264 Phospholipid phosphatase 5; Displays magnesium-independent phosphatidate phosphatase activity in vitro. Catalyzes the conversion of phosphatidic acid to diacylglycerol. May be a metastatic suppressor for hepatocellular carcinoma 9606.ENSP00000392568 DEFB130A 79 Beta-defensin 130A; Antimicrobial host-defense peptide. Has an antiplasmodial activity 9606.ENSP00000392617 SMARCD2 531 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation; Belongs to [...] 9606.ENSP00000392660 ARHGAP28 570 Rho GTPase-activating protein 28; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state 9606.ENSP00000392678 AKIRIN1 192 Akirin-1; Akirin 1 9606.ENSP00000392700 AMER3 861 APC membrane recruitment protein 3; Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane (By similarity) 9606.ENSP00000392709 NDUFS1 741 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized; NADH:u [...] 9606.ENSP00000392718 POTEI 1075 POTE ankyrin domain family member I; In the N-terminal section; belongs to the POTE family 9606.ENSP00000392726 POM121L2 1035 POM121-like protein 2; POM121 transmembrane nucleoporin like 2; Belongs to the POM121 family 9606.ENSP00000392762 DCT 552 L-dopachrome tautomerase; Catalyzes the conversion of L-dopachrome into 5,6- dihydroxyindole-2-carboxylic acid (DHICA). Involved in regulating eumelanin and phaeomelanin levels; Belongs to the tyrosinase family 9606.ENSP00000392770 MS4A6A 253 Membrane-spanning 4-domains subfamily A member 6A; May be involved in signal transduction as a component of a multimeric receptor complex; Belongs to the MS4A family 9606.ENSP00000392812 PIK3R5 880 Phosphoinositide 3-kinase regulatory subunit 5; Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity) 9606.ENSP00000392828 GPSM1 675 G-protein-signaling modulator 1; Guanine nucleotide dissociation inhibitor (GDI) which functions as a receptor-independent activator of heterotrimeric G- protein signaling. Keeps G(i/o) alpha subunit in its GDP-bound form thus uncoupling heterotrimeric G-proteins signaling from G protein-coupled receptors. Controls spindle orientation and asymmetric cell fate of cerebral cortical progenitors. May also be involved in macroautophagy in intestinal cells. May play a role in drug addiction; Belongs to the GPSM family 9606.ENSP00000392879 TCP11X2 407 T-complex 11 family, X-linked 2; Belongs to the TCP11 family 9606.ENSP00000392896 HSBP1 76 Heat shock factor-binding protein 1; Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process; Belongs to the HSBP1 family 9606.ENSP00000392906 PLEKHG2 1386 Pleckstrin homology domain-containing family G member 2; May be a transforming oncogene with exchange activity for CDC42 (By similarity). May be a guanine-nucleotide exchange factor (GEF) for RAC1 and CDC42. Activated by the binding to subunits beta and gamma of the heterotrimeric guanine nucleotide- binding protein (G protein). Involved in the regulation of actin polymerization; Pleckstrin homology domain containing 9606.ENSP00000392936 RFPL4A 287 Ret finger protein like 4A; Ring finger proteins 9606.ENSP00000392985 HTATIP2 276 Oxidoreductase HTATIP2; Oxidoreductase required for tumor suppression. NAPDH- bound form inhibits nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors. May act as a redox sensor linked to transcription through regulation of nuclear import. Isoform 1 is a metastasis suppressor with proapoptotic as well as antiangiogenic properties. Isoform 2 has an antiapoptotic effect; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000393066 SLC4A10 1118 Sodium-driven chloride bicarbonate exchanger; Electrogenic sodium/bicarbonate cotransporter in exchange for intracellular chloride. Plays an important role in regulating intracellular pH (By similarity); Solute carriers 9606.ENSP00000393097 GABRA1 456 Gamma-aminobutyric acid receptor subunit alpha-1; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel (By similarity); Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000393099 MAPKBP1 1514 Mitogen-activated protein kinase-binding protein 1; Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response. Involved in JNK signaling pathway (By similarity); WD repeat domain containing 9606.ENSP00000393128 LHFPL3 222 LHFPL tetraspan subfamily member 3 9606.ENSP00000393136 PRAMEF27 478 Homo sapiens PRAME family member 9/15-like (LOC101929983), mRNA; Belongs to the PRAME family 9606.ENSP00000393139 CDC7 574 Cell division cycle 7-related protein kinase; Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3 9606.ENSP00000393154 FBXO15 510 F-box only protein 15; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000393161 TMEM151B 566 Transmembrane protein 151B; Belongs to the TMEM151 family 9606.ENSP00000393163 ZNF630 657 Zinc finger protein 630; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000393183 VPRBP 1507 DDB1- and CUL4-associated factor 1; Acts both as a substrate recognition component of E3 ubiquitin-protein ligase complexes and as an atypical serine/threonine-protein kinase, playing key roles in various processes such as cell cycle, telomerase regulation and histone modification. Probable substrate-specific adapter of a DCX (DDB1- CUL4-X-box) E3 ubiquitin-protein ligase complex, named CUL4A-RBX1- DDB1-DCAF1/VPRBP complex, which mediates ubiquitination and proteasome-dependent degradation of proteins such as NF2. Involved in the turnover of methylated proteins: recognizes and binds me [...] 9606.ENSP00000393198 HES4 247 Hes family bHLH transcription factor 4; Basic helix-loop-helix proteins 9606.ENSP00000393222 CFAP221 840 Cilia- and flagella-associated protein 221; May play a role in cilium morphogenesis; Cilia and flagella associated 9606.ENSP00000393241 RPS18 152 40S ribosomal protein S18; Located at the top of the head of the 40S subunit, it contacts several helices of the 18S rRNA; S ribosomal proteins 9606.ENSP00000393260 ZNF7 697 Zinc finger protein 7; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000393275 NANOS1 292 Nanos homolog 1; May act as a translational repressor which regulates translation of specific mRNAs by forming a complex with PUM2 that associates with the 3'-UTR of mRNA targets. Capable of interfering with the proadhesive and anti-invasive functions of E-cadherin. Up-regulates the production of MMP14 to promote tumor cell invasion; Belongs to the nanos family 9606.ENSP00000393312 FGFR1 853 Fibroblast growth factor receptor 1; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 lea [...] 9606.ENSP00000393313 EPS15L1 910 Epidermal growth factor receptor substrate 15-like 1; Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2; EF-hand domain containing 9606.ENSP00000393315 CT47A1 288 Cancer/testis antigen family 47, member A1 9606.ENSP00000393316 TMX1 280 Thioredoxin-related transmembrane protein 1; May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions; Protein disulfide isomerases 9606.ENSP00000393324 EIF4E3 224 Eukaryotic translation initiation factor 4E type 3; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis. May act as an inhibitor of EIF4E1 activity (By similarity) 9606.ENSP00000393333 TBXA2R 407 Thromboxane A2 receptor; Receptor for thromboxane A2 (TXA2), a potent stimulator of platelet aggregation. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system. In the kidney, the binding of TXA2 to glomerular TP receptors causes intense vasoconstriction. Activates phospholipase C. Isoform 1 activates adenylyl cyclase. Isoform 2 inhibits adenylyl cyclase 9606.ENSP00000393379 KIF5C 957 Kinesin heavy chain isoform 5C; Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily 9606.ENSP00000393392 MYO1A 1043 Unconventional myosin-Ia; Involved in directing the movement of organelles along actin filaments; Myosins, class I 9606.ENSP00000393417 CASP14 242 Caspase-14; Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum. Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substrate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF. Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function. Involved in DNA deg [...] 9606.ENSP00000393453 SMYD1 490 Histone-lysine N-methyltransferase SMYD1; Methylates histone H3 at 'Lys-4' (H3K4me), seems able to perform both mono-, di-, and trimethylation. Acts as a transcriptional repressor. Essential for cardiomyocyte differentiation and cardiac morphogenesis; Belongs to the class V-like SAM-binding methyltransferase superfamily 9606.ENSP00000393474 CD163L1 1463 Scavenger receptor cysteine-rich type 1 protein M160; Scavenger receptor cysteine rich domain containing 9606.ENSP00000393511 ABLIM2 645 Actin-binding LIM protein 2; May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity; LIM domain containing 9606.ENSP00000393541 IFT27 186 Intraflagellar transport protein 27 homolog; Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6. Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6. Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25 (By similarity) 9606.ENSP00000393557 SLC4A4 1094 Electrogenic sodium bicarbonate cotransporter 1; Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH; Belongs to the anion exchanger (TC 2.A.31) family 9606.ENSP00000393559 PACS2 904 Phosphofurin acidic cluster sorting protein 2; Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct [...] 9606.ENSP00000393566 HLA-DPA1 260 HLA class II histocompatibility antigen, DP alpha 1 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for p [...] 9606.ENSP00000393583 CEP131 1080 Centrosomal protein of 131 kDa; Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation. In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation. In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner [...] 9606.ENSP00000393596 BIRC6 4857 Baculoviral IAP repeat-containing protein 6; Anti-apoptotic protein which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Has an unusual ubiquitin conjugation system in that it could combine in a single polypeptide, ubiquitin conjugating (E2) with ubiquitin ligase (E3) activity, forming a chimeric E2/E3 ubiquitin ligase. Its tragets include CASP9 and DIABLO/SMAC. Acts as an inhibitor of CASP3, CASP7 and CASP9. Important regulator for the final stages of cytokinesis. Crucial for normal vesicle targeting to the site of abscission, but also [...] 9606.ENSP00000393631 ADM5 153 Putative adrenomedullin-5-like protein; Probable non-functional remnant of adrenomedullin-5 9606.ENSP00000393667 FAM126B 530 Protein FAM126B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane; Belongs to the FAM126 family 9606.ENSP00000393675 FAM73A 633 Mitoguardin 1; Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD; Belongs to the mitoguardin family 9606.ENSP00000393719 CLEC17A 378 C-type lectin domain family 17, member A; Cell surface receptor which may be involved in carbohydrate-mediated communication between cells in the germinal center. Binds glycans with terminal alpha-linked mannose or fucose residues; C-type lectin domain containing 9606.ENSP00000393762 SESN1 551 Sestrin-1; Functions as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway through the GATOR complex. In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents TORC1 signaling. Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway. This stress-inducible metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitatin [...] 9606.ENSP00000393776 FCHO2 810 F-BAR domain only protein 2; Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP- 2-dependen [...] 9606.ENSP00000393785 NKIRAS1 192 NF-kappa-B inhibitor-interacting Ras-like protein 1; Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB 9606.ENSP00000393795 ZNF512B 892 Zinc finger protein 512B; May be involved in transcriptional regulation 9606.ENSP00000393832 PPP1R3G 358 Protein phosphatase 1 regulatory subunit 3G; Glycogen-targeting subunit for protein phosphatase 1 (PP1). Involved in the regulation of hepatic glycogenesis in a manner coupled to the fasting-feeding cycle and distinct from other glycogen-targeting subunits (By similarity) 9606.ENSP00000393835 ZNF506 444 Zinc finger protein 506; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000393840 BLOC1S3 202 Biogenesis of lysosome-related organelles complex 1 subunit 3; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking 9606.ENSP00000393845 PPIAL4G 164 Peptidyl-prolyl cis-trans isomerase A-like 4G; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily 9606.ENSP00000393847 PLA2G10 165 Group 10 secretory phospholipase A2; PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Has a powerful potency for releasing arachidonic acid from cell membrane phospholipids. Prefers phosphatidylethanolamine and phosphatidylcholine liposomes to those of phosphatidylserine 9606.ENSP00000393854 CENPBD1 187 CENPB DNA-binding domain-containing protein 1; Helix-turn-helix CENPB type domain containing 9606.ENSP00000393876 ZNF655 526 Zinc finger protein 655; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000393887 AHSG 367 Alpha-2-HS-glycoprotein; Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions; Cystatins, type 4 9606.ENSP00000393889 OR5K2 316 Olfactory receptor 5K2; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000393922 RUSC2 1516 Iporin; RUN and SH3 domain containing 2 9606.ENSP00000393952 TTC39A 613 Tetratricopeptide repeat domain containing 9606.ENSP00000393963 KIFC1 673 Kinesin-like protein KIFC1; Minus end-directed microtubule-dependent motor required for bipolar spindle formation. May contribute to movement of early endocytic vesicles (By similarity). Regulates cilium formation and structure (By similarity); Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. NCD subfamily 9606.ENSP00000393978 PRKD2 878 Serine/threonine-protein kinase D2; Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of cell proliferation via MAPK1/3 (ERK1/2) signaling, oxidative stress- induced NF-kappa-B activation, inhibition of HDAC7 transcriptional repression, signaling downstream of T-cell antigen receptor (TCR) and cytokine production, and plays a role in Golgi membrane trafficking, angiogenesis, secretory granule release and cell adhesion. May potentiate mitogenesis induced by the ne [...] 9606.ENSP00000393987 FAM19A2 131 Protein FAM19A2; Family with sequence similarity 19 member A2, C-C motif chemokine like 9606.ENSP00000394033 KCNK2 426 Potassium channel subfamily K member 2; Ion channel that contributes to passive transmembrane potassium transport. Reversibly converts between a voltage-insensitive potassium leak channel and a voltage- dependent outward rectifying potassium channel in a phosphorylation-dependent manner. In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled rece [...] 9606.ENSP00000394049 SLA 316 Src-like-adapter; Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. Involved in the negative regulation of positive selection and mitosis of T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins; SH2 domain containing 9606.ENSP00000394051 NOSTRIN 563 Nostrin; Nitric oxide synthase trafficking; F-BAR domain containing 9606.ENSP00000394071 GDI1 447 Rab GDP dissociation inhibitor alpha; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes 9606.ENSP00000394078 LRRC74B 392 Leucine-rich repeat-containing protein 74B; Leucine rich repeat containing 74B 9606.ENSP00000394085 JMJD6 414 Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6; Dioxygenase that can both act as a histone arginine demethylase and a lysyl-hydroxylase. Acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine residues of target proteins such as U2AF2/U2AF65 and LUC7L2. Acts as a regulator of RNA splicing by mediating 5-hydroxylation of U2AF2/U2AF65, affecting the pre-mRNA splicing activity of U2AF2/U2AF65. In addition to peptidyl-lysine 5-dioxygenase activity, may act as an RNA hydroxylase, as suggested by its ability to bind single strand RNA. Also acts as an argi [...] 9606.ENSP00000394107 ENSG00000249209 242 annotation not available 9606.ENSP00000394168 SLCO1B7 640 Solute carrier organic anion transporter family member 1B7 9606.ENSP00000394178 TMEM182 229 Transmembrane protein 182 9606.ENSP00000394183 CDKN2AIPNL 116 CDKN2AIP N-terminal-like protein; CDKN2A interacting protein N-terminal like 9606.ENSP00000394227 CSF2RA 434 Granulocyte-macrophage colony-stimulating factor receptor subunit alpha; Low affinity receptor for granulocyte-macrophage colony- stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells; Belongs to the type I cytokine receptor family. Type 5 subfamily 9606.ENSP00000394248 ZNF716 495 Zinc finger protein 716; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000394282 OR4F3 312 Olfactory receptor, family 4, subfamily F, member 3; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000394316 BZW1 451 Basic leucine zipper and W2 domain-containing protein 1; Enhances histone H4 gene transcription but does not seem to bind DNA directly 9606.ENSP00000394331 COMMD5 224 COMM domain-containing protein 5; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. Negatively regulates cell proliferation. Negatively regulates cell cycle G2/M phase transition probably by transactivating p21/CDKN1A through the p53/TP53-independent signaling pathway. Involved in kidney proximal tubule morphogenesis (By similarity). Down-regulates activation of NF-kappa-B; COMM domain containing 9606.ENSP00000394352 DIXDC1 683 Dixin; Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2; Belongs to the DIXDC1 family 9606.ENSP00000394380 ZNF625 372 Zinc finger protein 625; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000394390 KCTD15 283 BTB/POZ domain-containing protein KCTD15; During embryonic development, interferes with neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain 9606.ENSP00000394394 ANAPC7 599 Anaphase-promoting complex subunit 7; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains; Belongs to the APC7 family 9606.ENSP00000394417 MORF4L2 288 Mortality factor 4-like protein 2; Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative [...] 9606.ENSP00000394472 BTBD18 712 BTB/POZ domain-containing protein 18; Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene; BTB domain containing 9606.ENSP00000394484 DCLK3 648 Serine/threonine-protein kinase DCLK3; Doublecortin like kinase 3; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily 9606.ENSP00000394485 PDZK1 519 Na(+)/H(+) exchange regulatory cofactor NHE-RF3; A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resista [...] 9606.ENSP00000394487 FGD4 766 FYVE, RhoGEF and PH domain-containing protein 4; Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity); Pleckstrin homology domain containing 9606.ENSP00000394496 CORO1C 527 Coronin-1C; May be involved in cytokinesis, motility, and signal transduction; Belongs to the WD repeat coronin family 9606.ENSP00000394510 PRR12 2036 Proline-rich protein 12; Proline rich 12 9606.ENSP00000394546 NHSL1 1610 NHS-like protein 1; NHS like 1; Belongs to the NHS family 9606.ENSP00000394560 MAPK9 424 Mitogen-activated protein kinase 9; Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2. In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as JU [...] 9606.ENSP00000394623 NUTM2B 878 NUT family member 2B 9606.ENSP00000394624 OPRM1 493 Mu-type opioid receptor; Receptor for endogenous opioids such as beta-endorphin and endomorphin. Receptor for natural and synthetic opioids including morphine, heroin, DAMGO, fentanyl, etorphine, buprenorphin and methadone. Agonist binding to the receptor induces coupling to an inactive GDP-bound heterotrimeric G-protein complex and subsequent exchange of GDP for GTP in the G-protein alpha subunit leading to dissociation of the G-protein complex with the free GTP-bound G-protein alpha and the G-protein beta-gamma dimer activating downstream cellular effectors. The agonist- and cell typ [...] 9606.ENSP00000394653 IQCF5 148 IQ motif containing F5 9606.ENSP00000394720 SEMA4B 837 Semaphorin-4B; Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons; Semaphorins 9606.ENSP00000394734 CLK1 526 Dual specificity protein kinase CLK1; Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex and may be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing. Phosphorylates: SRSF1, SRSF3 and PTPN1. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells and adenovirus E1A pre-mRNA; CDC like kinases 9606.ENSP00000394751 IPCEF1 438 Interactor protein for cytohesin exchange factors 1; Enhances the promotion of guanine-nucleotide exchange by PSCD2 on ARF6 in a concentration-dependent manner; Pleckstrin homology domain containing 9606.ENSP00000394757 ZNF516 1163 Zinc finger protein 516; Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress; Zinc fingers C2H2-type 9606.ENSP00000394770 CMYA5 4069 Cardiomyopathy-associated protein 5; May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity); A-kinase anchoring proteins 9606.ENSP00000394791 SENP1 644 Sentrin-specific protease 1; Protease that catalyzes two essential functions in the SUMO pathway. The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. Deconjugates SUMO1 from HIPK2. Deconjugates SUMO1 from [...] 9606.ENSP00000394794 PTPN13 2490 Tyrosine-protein phosphatase non-receptor type 13; Tyrosine phosphatase which regulates negatively FAS- induced apoptosis and NGFR-mediated pro-apoptotic signaling. May regulate phosphoinositide 3-kinase (PI3K) signaling through dephosphorylation of PIK3R2; FERM domain containing 9606.ENSP00000394842 GCA 217 Grancalcin; Calcium-binding protein that may play a role in the adhesion of neutrophils to fibronectin. May play a role in the formation of focal adhesions; EF-hand domain containing 9606.ENSP00000394863 PPT1 306 Palmitoyl-protein thioesterase 1; Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons; Belongs to the palmitoyl-protein thioesterase family 9606.ENSP00000394869 EIF2B4 543 Translation initiation factor eIF-2B subunit delta; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP 9606.ENSP00000394888 DOCK8 2099 Dedicator of cytokinesis protein 8; Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP. During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane. Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CC [...] 9606.ENSP00000394899 TMEM51 253 Transmembrane protein 51 9606.ENSP00000394936 ORM2 201 Alpha-1-acid glycoprotein 2; Functions as transport protein in the blood stream. Binds various hydrophobic ligands in the interior of its beta- barrel domain. Also binds synthetic drugs and influences their distribution and availability. Appears to function in modulating the activity of the immune system during the acute-phase reaction; Lipocalins 9606.ENSP00000394954 GSG1L 331 Germ cell-specific gene 1-like protein; As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating 9606.ENSP00000395007 ZNF746 645 Zinc finger protein 746; Transcription repressor that specifically binds to the 5'-TATTTT[T/G]-3' consensus sequence on promoters and repress transcription of PGC-1-alpha (PPARGC1A), thereby playing a role in regulation of neuron death; Zinc fingers C2H2-type 9606.ENSP00000395012 KLHL24 600 Kelch-like protein 24; Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity. As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation. Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity); BTB domain containing 9606.ENSP00000395083 ARFIP1 373 Arfaptin-1; Putative target protein of ADP-ribosylation factor; Classical BAR domain containing 9606.ENSP00000395086 TRIM51 452 Tripartite motif-containing 51; Ring finger proteins 9606.ENSP00000395196 EARS2 523 Probable glutamate--tRNA ligase, mitochondrial; Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu); Aminoacyl tRNA synthetases, Class I 9606.ENSP00000395204 TMEM68 324 Transmembrane protein 68 9606.ENSP00000395219 IGFL2 130 Insulin growth factor-like family member 2; Potential ligand of the IGFLR1 cell membrane receptor 9606.ENSP00000395220 SYTL5 752 Synaptotagmin-like protein 5; May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids; Synaptotagmin like tandem C2 proteins 9606.ENSP00000395232 MTFR2 385 Mitochondrial fission regulator 2; May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity); Belongs to the MTFR1 family 9606.ENSP00000395244 TMEM229A 380 Transmembrane protein 229A 9606.ENSP00000395249 FAM134A 543 Reticulophagy regulator 2; Family with sequence similarity 134, member A; Belongs to the RETREG family 9606.ENSP00000395259 ZBED9 1325 SCAN domain-containing protein 3; Zinc finger BED-type containing 9; SCAN domain containing 9606.ENSP00000395281 C9orf116 136 UPF0691 protein C9orf116; Chromosome 9 open reading frame 116 9606.ENSP00000395340 FAM185A 392 Protein FAM185A; Family with sequence similarity 185 member A 9606.ENSP00000395389 LPAR3 353 Lysophosphatidic acid receptor 3; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. May play a role in the development of ovarian cancer. Seems to be coupled to the G(i)/G(o) and G(q) families of heteromeric G proteins 9606.ENSP00000395461 BTBD19 291 BTB/POZ domain-containing protein 19; BTB domain containing 19 9606.ENSP00000395473 MAN2B1 1011 Lysosomal alpha-mannosidase; Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages; Belongs to the glycosyl hydrolase 38 family 9606.ENSP00000395474 SNX10 201 Sorting nexin-10; Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption 9606.ENSP00000395505 PATE3 98 Prostate and testis expressed 3; Belongs to the PATE family 9606.ENSP00000395535 MECP2 498 Methyl-CpG-binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC) 9606.ENSP00000395538 TNRC18 2968 Trinucleotide repeat-containing gene 18 protein; Trinucleotide repeat containing 18 9606.ENSP00000395574 TCEB3 798 Elongin-A; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) 9606.ENSP00000395587 CTAGE9 777 CTAGE family member 9 9606.ENSP00000395590 IFI35 288 Interferon-induced 35 kDa protein; Not yet known 9606.ENSP00000395629 ZNF812 454 Zinc finger protein 812 9606.ENSP00000395654 SMARCA4 1647 Transcription activator BRG1; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons [...] 9606.ENSP00000395704 CXCR6 342 C-X-C chemokine receptor type 6; Receptor for the C-X-C chemokine CXCL16. Used as a coreceptor by SIVs and by strains of HIV-2 and m-tropic HIV-1 9606.ENSP00000395708 RAPGEF3 923 Rap guanine nucleotide exchange factor 3; Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the cAMP-induced dynamic control of endothelial barrier function through a pathway that is independent on Rho- mediated signaling. Required for the actin rearrangement at cell- cell junctions, such as stress fibers and junctio [...] 9606.ENSP00000395723 ZNF200 395 Zinc finger protein 200; Could have a role in spermatogenesis; Zinc fingers C2H2-type 9606.ENSP00000395733 ZNF737 536 Zinc finger protein 737; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000395772 GNL3 549 Guanine nucleotide-binding protein-like 3; May be required to maintain the proliferative capacity of stem cells. Stabilizes MDM2 by preventing its ubiquitination, and hence proteasomal degradation (By similarity); Belongs to the TRAFAC class YlqF/YawG GTPase family 9606.ENSP00000395835 CCDC129 1062 Coiled-coil domain containing 129 9606.ENSP00000395929 NSD1 2696 Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context; Lysine methyltransferases 9606.ENSP00000395983 SLC12A4 1087 Solute carrier family 12 member 4; Mediates electroneutral potassium-chloride cotransport when activated by cell swelling. May contribute to cell volume homeostasis in single cells. May be involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia (By similarity). Isoform 4 has no transport activity; Belongs to the SLC12A transporter family 9606.ENSP00000395995 CCDC141 1530 Coiled-coil domain-containing protein 141; Plays a critical role in radial migration and centrosomal function; Immunoglobulin like domain containing 9606.ENSP00000396045 PLA2G4B 781 Cytosolic phospholipase A2 beta; Calcium-dependent phospholipase A2 that selectively hydrolyzes glycerophospholipids in the sn-2 position with a preference for arachidonoyl phospholipids. Has a much weaker activity than PLA2G4A. Isoform 3 has calcium-dependent activity against palmitoyl-arachidonyl-phosphatidylethanolamine and low level lysophospholipase activity but no activity against phosphatidylcholine. Isoform 5 does have activity against phosphatidylcholine; C2 domain containing phospholipases 9606.ENSP00000396052 BRMS1 290 Breast cancer metastasis-suppressor 1; Transcriptional repressor. Down-regulates transcription activation by NF-kappa-B by promoting the deacetylation of RELA at 'Lys-310'. Promotes HDAC1 binding to promoter regions. Down- regulates expression of anti-apoptotic genes that are controlled by NF-kappa-B. Promotes apoptosis in cells that have inadequate adherence to a substrate, a process called anoikis, and may thereby inhibit metastasis. May be a mediator of metastasis suppression in breast carcinoma 9606.ENSP00000396068 UBR3 1888 E3 ubiquitin-protein ligase UBR3; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (By similarity). Does not bind to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). May play a role in Shh signaling by mediating the ubiquitination of Kif7 (By similarity). May be important for MYH9 function in certain tissues, possibly by regulating the ubiquitination of MYH9 and consequently affecting its interaction with MYO7A; Belongs to the UBR1 family 9606.ENSP00000396085 OR6V1 313 Olfactory receptor 6V1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000396103 MYT1L 1184 Myelin transcription factor 1-like protein; Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non- neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts an [...] 9606.ENSP00000396160 FBRSL1 1045 Fibrosin-1-like protein; Fibrosin like 1; Belongs to the AUTS2 family 9606.ENSP00000396163 CLEC2A 174 C-type lectin domain family 2 member A; Plays a role in modulating the extent of T-cell expansion. Enhances the expansion of TCR-stimulated T-cells by increasing their survival through enhanced expression of anti- apoptotic proteins. May modulate the capacity of T-cells to home to lymph nodes through SELL. Facilitates dedicated immune recognition of keratinocytes via interaction with its receptor KLRF2 by stimulating natural killer cell mediated cytotoxicity; C-type lectin domain containing 9606.ENSP00000396225 KIAA0141 515 Death ligand signal enhancer; Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation 9606.ENSP00000396234 DEPDC4 294 DEP domain containing 4 9606.ENSP00000396270 TSPAN14 270 Tetraspanin-14; Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Negatively regulates ADAM10- mediated cleavage of GP6 (By similarity). Promotes ADAM10-mediated cleavage of CDH5 (By similarity); Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000396301 IK 557 Protein Red; Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Required for normal mitotic cell cycle progression. Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint. Required for normal accumulation of SMU1 9606.ENSP00000396304 CLDN25 229 Putative claudin-25; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000396308 DHFR 187 Dihydrofolate reductase; Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Catalyzes an essential reaction for de novo glycine and purine synthesis, and for DNA precursor synthesis. Binds its own mRNA and that of DHFR2 9606.ENSP00000396320 SCN4A 1836 Sodium channel protein type 4 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. This sodium channel may be present in both denervated and innervated skeletal muscle; Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily 9606.ENSP00000396379 ZNF302 443 Zinc finger protein 302; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000396402 ZNF793 406 Zinc finger protein 793; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000396421 NXPE3 559 NXPE family member 3; Neurexophilin and PC-esterase domain family member 3 9606.ENSP00000396441 GPATCH4 375 G-patch domain containing 4 9606.ENSP00000396445 OSGIN2 549 Oxidative stress-induced growth inhibitor 2; May be involved in meiosis or the maturation of germ cells 9606.ENSP00000396452 HDHD1 251 Pseudouridine-5'-phosphatase; Dephosphorylates pseudouridine 5'-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine; Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family 9606.ENSP00000396467 MAPKAPK3 382 MAP kinase-activated protein kinase 3; Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38- alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. MAPKAPK2 and MAPKAPK3, share the same function and substrate specificity, but MAPKAPK3 kinase activity and level in protein expression are lower compared t [...] 9606.ENSP00000396523 SLC35G6 338 Solute carrier family 35 member G6 9606.ENSP00000396527 ENSG00000249319 307 annotation not available 9606.ENSP00000396593 DYTN 578 Dystrotelin; Zinc fingers ZZ-type 9606.ENSP00000396615 GLB1L3 653 Beta-galactosidase-1-like protein 3; Galactosidase beta 1 like 3 9606.ENSP00000396620 NFYC 354 Nuclear transcription factor Y subunit gamma; Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'- CCAAT-3' box motif found in the promoters of its target genes. NF- Y can function as both an activator and a repressor, depending on its interacting cofactors 9606.ENSP00000396622 MROH7 1323 Maestro heat like repeat family member 7 9606.ENSP00000396628 TEX264 313 Testis-expressed protein 264; Testis expressed 264 9606.ENSP00000396648 PRR23C 262 Proline-rich protein 23C; Proline rich 23C; Belongs to the PRR23 family 9606.ENSP00000396673 FTSJ3 847 pre-rRNA processing protein FTSJ3; Probable methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. SPB1 subfamily 9606.ENSP00000396688 C4A 1744 Complement C4-A; Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens 9606.ENSP00000396704 TOP2B 1621 DNA topoisomerase 2-beta; Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks; Belongs to the type II topoisomerase family 9606.ENSP00000396722 NTM 355 Neurotrimin; Neural cell adhesion molecule; Belongs to the immunoglobulin superfamily. IgLON family 9606.ENSP00000396732 PRDM7 492 Probable histone-lysine N-methyltransferase PRDM7; Probable histone methyltransferase; PR/SET domain family 9606.ENSP00000396747 ANKRD60 345 Ankyrin repeat domain-containing protein 60; Ankyrin repeat domain containing 9606.ENSP00000396749 KANSL3 878 KAT8 regulatory NSL complex subunit 3; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription 9606.ENSP00000396755 CNTD2 307 Cyclin N-terminal domain containing 2 9606.ENSP00000396843 NFIC 508 Nuclear factor 1 C-type; Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication; Belongs to the CTF/NF-I family 9606.ENSP00000396857 ZNF697 545 Zinc finger protein 697; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000396896 DNAJC4 241 DnaJ heat shock protein family member C4 9606.ENSP00000396915 SCN1B 268 Sodium channel subunit beta-1; Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons; Immunoglobulin like domain containing 9606.ENSP00000396918 URGCP 931 Up-regulator of cell proliferation; May be involved in cell cycle progression through the regulation of cyclin D1 expression. May participate in the development of hepatocellular carcinoma (HCC) by promoting hepatocellular growth and survival. May play an important role in development of gastric cancer 9606.ENSP00000396935 KIAA0226L 662 Protein RUBCNL-like; May act as a tumor suppressor 9606.ENSP00000396936 PRR29 236 Proline-rich protein 29; Proline rich 29 9606.ENSP00000396937 PSMD13 378 Proteasome 26S subunit, non-ATPase 13 9606.ENSP00000396954 ATF5 282 Cyclic AMP-dependent transcription factor ATF-5; Transcription factor that either stimulates or represses gene transcription through binding of different DNA regulatory elements such as cAMP response element (CRE) (consensus: 5'- GTGACGT[AC][AG]-3'), ATF5-specific response element (ARE) (consensus: 5'-C[CT]TCT[CT]CCTT[AT]-3') but also the amino acid response element (AARE), present in many viral and cellular promoters. Critically involved, often in a cell type-dependent manner, in cell survival, proliferation, and differentiation. Its transcriptional activity is enhanced by CCND3 and s [...] 9606.ENSP00000396976 BAHD1 780 Bromo adjacent homology domain-containing 1 protein; Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon- stimulated genes, including IFNL1, IFNL2 and IFNL3 9606.ENSP00000396995 PAPD5 698 Non-canonical poly(A) RNA polymerase PAPD5; Catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post- transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn't need a cofactor for polyadenylation activity (in vitro). Plays a role in replication-dependent histone mRNA degradation, probably through terminal uridylation of mature histone mRNAs. May play a role in sister chromatid cohesion; Belongs to the [...] 9606.ENSP00000397002 TEX22 150 Testis-expressed protein 22; Testis expressed 22 9606.ENSP00000397026 GRIK2 908 Glutamate receptor ionotropic, kainate 2; Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. [...] 9606.ENSP00000397039 SMIM34B 139 annotation not available 9606.ENSP00000397050 PPM1N 430 Protein phosphatase, Mg2+/Mn2+ dependent 1N 9606.ENSP00000397073 TRIM10 481 Tripartite motif-containing protein 10; Seems to play an important role in erythropoiesis; Belongs to the TRIM/RBCC family 9606.ENSP00000397082 SFTPA1 263 Pulmonary surfactant-associated protein A1; In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity); Belongs to the SFTPA family 9606.ENSP00000397103 GAGE12C 117 G antigen 12C; Belongs to the GAGE family 9606.ENSP00000397133 PRKAG3 489 5'-AMP-activated protein kinase subunit gamma-3; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a [...] 9606.ENSP00000397157 PERP 193 P53 apoptosis effector related to PMP-22; Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity) 9606.ENSP00000397172 BLCAP 87 Bladder cancer-associated protein; May regulate cell proliferation and coordinate apoptosis and cell cycle progression via a novel mechanism independent of both p53/TP53 and NF-kappa-B 9606.ENSP00000397178 ZNF300 620 Zinc finger protein 300; Has a transcriptional repressor activity; Zinc fingers C2H2-type 9606.ENSP00000397181 RGS4 302 Regulator of G-protein signaling 4; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(z)-alpha is inhibited by phosphorylation of the G-protein. Activity on G(z)-alpha and G(i)-alpha-1 is inhibited by palmitoylation of the G-protein 9606.ENSP00000397188 FAM104B 116 Family with sequence similarity 104 member B 9606.ENSP00000397239 KDM4E 506 Lysine-specific demethylase 4E; Histone demethylase that specifically demethylates 'Lys- 9' of histone H3, thereby playing a central role in histone code; Lysine demethylases 9606.ENSP00000397249 BZW2 419 Basic leucine zipper and W2 domain-containing protein 2; May be involved in neuronal differentiation 9606.ENSP00000397259 ATXN7L3 354 Ataxin-7-like protein 3; Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and EN [...] 9606.ENSP00000397261 SELENBP1 514 Selenium-binding protein 1; Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport (By similarity) 9606.ENSP00000397297 NTF3 270 Neurotrophin-3; Seems to promote the survival of visceral and proprioceptive sensory neurons; Belongs to the NGF-beta family 9606.ENSP00000397312 LRRN3 708 Leucine-rich repeat neuronal protein 3; Fibronectin type III domain containing 9606.ENSP00000397351 GRID2IP 1211 Delphilin; Postsynaptic scaffolding protein at the parallel fiber- Purkinje cell synapse, where it may serve to link GRID2 with actin cytoskeleton and various signaling molecules; PDZ domain containing 9606.ENSP00000397394 C19orf25 118 UPF0449 protein C19orf25; Chromosome 19 open reading frame 25; Belongs to the UPF0449 family 9606.ENSP00000397402 TSEN34 315 tRNA-splicing endonuclease subunit Sen34; Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural [...] 9606.ENSP00000397415 RLN3 142 Relaxin-3; May play a role in neuropeptide signaling processes. Ligand for LGR7, relaxin-3 receptor-1 (GPCR135) and relaxin-3 receptor-2 (GPCR142); Belongs to the insulin family 9606.ENSP00000397435 TSC22D1 1073 TSC22 domain family protein 1; Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter 9606.ENSP00000397441 COG6 657 Conserved oligomeric Golgi complex subunit 6; Required for normal Golgi function; Components of oligomeric golgi complex 9606.ENSP00000397453 UBE2W 191 Ubiquitin-conjugating enzyme E2 W; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8 and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini. Involved in degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation [...] 9606.ENSP00000397459 DUSP22 205 Dual specificity protein phosphatase 22; Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N- terminal kinase (SAPK/JNK) (By similarity); Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily 9606.ENSP00000397552 ACTL6A 429 Actin-like protein 6A; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors- specific chromatin rem [...] 9606.ENSP00000397563 PAPD4 484 Poly(A) RNA polymerase GLD2; Cytoplasmic poly(A) RNA polymerase that adds successive AMP monomers to the 3'-end of specific RNAs, forming a poly(A) tail. In contrast to the canonical nuclear poly(A) RNA polymerase, it only adds poly(A) to selected cytoplasmic mRNAs. Does not play a role in replication-dependent histone mRNA degradation; Belongs to the DNA polymerase type-B-like family. GLD2 subfamily 9606.ENSP00000397566 GTF2IRD1 976 General transcription factor II-I repeat domain-containing protein 1; May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity) 9606.ENSP00000397598 KY 661 Kyphoscoliosis peptidase; Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity); Belongs to the transglutaminase-like superfamily 9606.ENSP00000397655 ASB15 588 Ankyrin repeat and SOCS box protein 15; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000397673 ALKBH8 667 Alkylated DNA repair protein alkB homolog 8; Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain. Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA. Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in t [...] 9606.ENSP00000397679 ENDOU 410 Poly(U)-specific endoribonuclease; Endoribonuclease that cleaves single-stranded RNAs at uridylates and releases products that have 2'-3'-cyclic phosphate termini; Serine proteases 9606.ENSP00000397693 ZNF28 718 Zinc finger protein 28; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000397798 RPL17 184 60S ribosomal protein L17; Component of the large ribosomal subunit; Belongs to the universal ribosomal protein uL22 family 9606.ENSP00000397843 TMA7 64 Translation machinery associated 7 homolog 9606.ENSP00000397863 IL34 242 Interleukin-34; Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages. Promotes the release of proinflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1; Belongs to the IL-34 family 9606.ENSP00000397881 PET117 81 Protein PET117 homolog, mitochondrial; PET117 homolog 9606.ENSP00000397900 MRO 262 Maestro heat like repeat containing 9606.ENSP00000397908 LPIN1 975 Phosphatidate phosphatase LPIN1; Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fiss [...] 9606.ENSP00000397911 SP140L 580 SP140 nuclear body protein like; Bromodomain containing 9606.ENSP00000397925 ATP2C2 975 Calcium-transporting ATPase type 2C member 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium; ATPases Ca2+ transporting 9606.ENSP00000397927 POLDIP3 438 Polymerase delta-interacting protein 3; Is involved in regulation of translation. Is preferentially associated with CBC-bound spliced mRNA-protein complexes during the pioneer round of mRNA translation. Contributes to enhanced translational efficiency of spliced over nonspliced mRNAs. Recruits activated ribosomal protein S6 kinase beta-1 I/RPS6KB1 to newly synthesized mRNA. Involved in nuclear mRNA export; probably mediated by assoociation with the TREX complex; RNA binding motif containing 9606.ENSP00000397942 ENSG00000249240 227 Uncharacterized protein 9606.ENSP00000397947 PLEKHA8 519 Pleckstrin homology domain-containing family A member 8; Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans- Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by [...] 9606.ENSP00000397968 LOC728763 1655 Putative ciliary rootlet coiled-coil protein 2; Protein LOC728763 ; Belongs to the rootletin family 9606.ENSP00000398017 CLDN9 217 Claudin-9; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000398048 ALPK1 1244 Alpha-protein kinase 1; Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation 9606.ENSP00000398064 HIGD1A 107 HIG1 domain family member 1A, mitochondrial; Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May play a role in the assembly of respiratory supercomplexes 9606.ENSP00000398076 ATP9B 1147 Probable phospholipid-transporting ATPase IIB; ATPase phospholipid transporting 9B 9606.ENSP00000398083 TMEM243 118 Transmembrane protein 243; Belongs to the TMEM243 family 9606.ENSP00000398089 ZNF821 412 Zinc finger protein 821; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000398105 CHAC1 264 Glutathione-specific gamma-glutamylcyclotransferase 1; Catalyzes the cleavage of glutathione into 5-oxo-L- proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides. Glutathione depletion is an important factor for apoptosis initiation and execution. Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade. Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining No [...] 9606.ENSP00000398106 ZBED5 693 Zinc finger BED-type containing 5 9606.ENSP00000398124 E2F5 346 Transcription factor E2F5; Transcriptional activator that binds to E2F sites, these sites are present in the promoter of many genes whose products are involved in cell proliferation. May mediate growth factor- initiated signal transduction. It is likely involved in the early responses of resting cells to growth factor stimulation. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis; Belongs to the E2F/DP family 9606.ENSP00000398131 GSPT1 637 Eukaryotic peptide chain release factor GTP-binding subunit ERF3A; Involved in translation termination in response to the termination codons UAA, UAG and UGA. Stimulates the activity of ERF1. Involved in regulation of mammalian cell growth. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. ERF3 subfamily 9606.ENSP00000398181 ALKBH2 261 DNA oxidative demethylase ALKBH2; Dioxygenase that repairs alkylated DNA and RNA containing 1-methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1- ethenoadenine (in vitro). Has strong preference for double- stranded DNA. Has low efficiency with single-stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron; Alkylation repair homologs 9606.ENSP00000398211 TTC21A 1320 Tetratricopeptide repeat domain containing; Belongs to the TTC21 family 9606.ENSP00000398273 SOX5 763 Transcription factor SOX-5; Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro; SRY-boxes 9606.ENSP00000398342 PPP1R14D 200 Protein phosphatase 1 regulatory subunit 14D; Inhibitor of PPP1CA. Has inhibitory activity only when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction 9606.ENSP00000398350 C11orf68 293 UPF0696 protein C11orf68; Chromosome 11 open reading frame 68; Belongs to the UPF0696 family 9606.ENSP00000398401 FAM133B 247 Protein FAM133B; Family with sequence similarity 133 member B 9606.ENSP00000398410 KDM8 454 JmjC domain-containing protein 5; Histone demethylase required for G2/M phase cell cycle progression. Specifically demethylates dimethylated 'Lys-36' (H3K36me2) of histone H3, an epigenetic repressive mark, thereby acting as a transcription activator. Regulates expression of CCNA1 (cyclin-A1), leading to regulate cancer cell proliferation. In a complex with coregulator RCCD1, is also able to demethylate trimethylated 'Lys-36' (H3K36me3) of histone H3. Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions [...] 9606.ENSP00000398454 GOLGA8N 632 Golgin A8 family member N; Belongs to the GOLGA8 family 9606.ENSP00000398481 CADPS2 1296 Calcium-dependent secretion activator 2; Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)- dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity); C2 domain containing 9606.ENSP00000398495 DIABLO 239 Diablo homolog, mitochondrial; Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. Isoform 3 attenuates the stability and apoptosis- inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in [...] 9606.ENSP00000398502 FAM86A 330 Protein-lysine N-methyltransferase EEF2KMT; Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on 'Lys-525' 9606.ENSP00000398516 L3MBTL1 840 Lethal(3)malignant brain tumor-like protein 1; Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post- translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/HIST1H1E at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and bi [...] 9606.ENSP00000398523 CALCOCO2 470 Calcium-binding and coiled-coil domain-containing protein 2; Xenophagy-specific receptor required for autophagy- mediated intracellular bacteria degradation. Acts as an effector protein of galectin-sensed membrane damage that restricts the proliferation of infecting pathogens such as Salmonella typhimurium upon entry into the cytosol by targeting LGALS8- associated bacteria for autophagy. Initially orchestrates bacteria targeting to autophagosomes and subsequently ensures pathogen degradation by regulating pathogen-containing autophagosome maturation. Bacteria targeting to autophagosom [...] 9606.ENSP00000398526 ENSG00000256349 630 Bardet-Biedl syndrome 1 protein 9606.ENSP00000398559 CT47A3 288 Cancer/testis antigen family 47, member A3 9606.ENSP00000398560 SPATA13 1277 Spermatogenesis-associated protein 13; Acts as guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up- regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression; Pleckstrin homology domain containing 9606.ENSP00000398568 PRF1 555 Perforin-1; Plays a key role in secretory granule-dependent cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognized as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerize and form large pores. Promotes cytolysis and apoptosis of target cells by facilitating the uptake of cytotoxic granzymes; Belongs to the complement C6/C7/C8/C9 family 9606.ENSP00000398596 TAMM41 337 Phosphatidate cytidylyltransferase, mitochondrial; Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane (By similarity); Belongs to the TAM41 family 9606.ENSP00000398597 EXOSC6 272 Exosome complex component MTR3; Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytop [...] 9606.ENSP00000398610 ANXA11 505 Annexin A11; Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis; Belongs to the annexin family 9606.ENSP00000398617 FAM71E2 922 Protein FAM71E2; Family with sequence similarity 71 member E2; Belongs to the FAM71 family 9606.ENSP00000398619 KRTAP25-1 102 Keratin-associated protein 25-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity) 9606.ENSP00000398632 CD44 742 CD44 antigen; Receptor for hyaluronic acid (HA). Mediates cell-cell and cell-matrix interactions through its affinity for HA, and possibly also through its affinity for other ligands such as osteopontin, collagens, and matrix metalloproteinases (MMPs). Adhesion with HA plays an important role in cell migration, tumor growth and progression. In cancer cells, may play an important role in invadopodia formation. Also involved in lymphocyte activation, recirculation and homing, and in hematopoiesis. Altered expression or dysfunction causes numerous pathogenic phenotypes. Great protein hete [...] 9606.ENSP00000398637 ARL13A 256 ADP-ribosylation factor-like protein 13A; ADP ribosylation factor like GTPase 13A; ARF GTPase family 9606.ENSP00000398655 ITK 620 Tyrosine-protein kinase ITK/TSK; Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the a [...] 9606.ENSP00000398688 VWA5B2 1242 Von Willebrand factor A domain containing 5B2 9606.ENSP00000398698 TNF 233 Tumor necrosis factor; Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. It is mainly secreted by macrophages and can induce cell death of certain tumor cell lines. It is potent pyrogen causing fever by direct action or by stimulation of interleukin-1 secretion and is implicated in the induction of cachexia, Under certain conditions it can stimulate cell proliferation and induce cell differentiation. Impairs regulatory T-cells (Treg) function in individuals with rheumatoid arthritis via FOXP3 dephosphorylation. Upregulates the expression of protein phosphatase 1 (PP1), which de [...] 9606.ENSP00000398722 CHID1 418 Chitinase domain-containing protein 1; Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro); Belongs to the glycosyl hydrolase 18 family 9606.ENSP00000398736 CYR61 381 Protein CYR61; Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up- regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5. CYR61-mediated gene regulation is dependent on heparin-binding. Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. Promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell migrat [...] 9606.ENSP00000398744 ADAL 328 Adenosine deaminase-like protein; Putative nucleoside deaminase. May catalyze the hydrolytic deamination of adenosine or some similar substrate and play a role in purine metabolism (By similarity) 9606.ENSP00000398778 RELL1 271 RELT-like protein 1; RELT family; Belongs to the RELT family 9606.ENSP00000398789 SNX13 957 Sorting nexin-13; May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis (By similarity). Acts as a GAP for Galphas; Belongs to the sorting nexin family 9606.ENSP00000398798 ZNF142 1687 Zinc finger protein 142; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000398803 TSTA3 321 GDP-L-fucose synthase; Catalyzes the two-step NADP-dependent conversion of GDP- 4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000398824 PHF21A 680 PHD finger protein 21A; Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation; PHD finger proteins 9606.ENSP00000398837 KMT2B 2715 Histone-lysine N-methyltransferase 2B; Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resu [...] 9606.ENSP00000398861 IP6K3 410 Inositol hexakisphosphate kinase 3; Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4; Belongs to the inositol phosphokinase (IPK) family 9606.ENSP00000398880 CDK12 1490 Cyclin-dependent kinase 12; Cyclin-dependent kinase that phosphorylates the C- terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair and is required for the maintenance of genomic stability. Preferentially phosphorylates 'Ser-5' in CTD repeats that are already phosphorylated at 'Ser-7', but can also phosphorylate 'Ser-2'. Required for RNA splicing, possibly by phosphorylating SRSF1/SF2. Involved in regulation of MAP kinase activity, possibly leadin [...] 9606.ENSP00000398882 DOHH 302 Deoxyhypusine hydroxylase; Catalyzes the hydroxylation of the N(6)-(4-aminobutyl)- L-lysine intermediate to form hypusine, an essential post- translational modification only found in mature eIF-5A factor; Belongs to the deoxyhypusine hydroxylase family 9606.ENSP00000398890 HLA-DMB 263 HLA class II histocompatibility antigen, DM beta chain; Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO 9606.ENSP00000398930 SGCE 462 Epsilon-sarcoglycan; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix 9606.ENSP00000399013 CNTNAP5 1306 Contactin-associated protein-like 5; May play a role in the correct development and proper functioning of the peripheral and central nervous system and be involved in cell adhesion and intercellular communication 9606.ENSP00000399075 C18orf42 69 A-kinase anchor protein inhibitor 1; Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A- kinase anchoring protein (AKAP)-mediated subcellular localization of PKA 9606.ENSP00000399078 OR10J1 320 Olfactory receptor 10J1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000399136 SLC6A12 614 Sodium- and chloride-dependent betaine transporter; Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation; Solute carriers 9606.ENSP00000399168 HLA-B 362 HLA class I histocompatibility antigen, B-7 alpha chain; Involved in the presentation of foreign antigens to the immune system; C1-set domain containing 9606.ENSP00000399229 MXRA8 450 Matrix remodeling-associated protein 8; May play a role in the maturation and maintenance of blood-brain barrier; V-set domain containing 9606.ENSP00000399259 FCHSD1 690 FCH and double SH3 domains 1; F-BAR domain containing 9606.ENSP00000399324 FGF16 207 Fibroblast growth factor 16; Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development; Belongs to the heparin-binding growth factors family 9606.ENSP00000399356 CT62 136 Cancer/testis antigen 62 9606.ENSP00000399392 C3orf52 250 TPA-induced transmembrane protein; Chromosome 3 open reading frame 52 9606.ENSP00000399403 KLC2 622 Kinesin light chain 2; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity) 9606.ENSP00000399415 CCBL1 516 Kynurenine--oxoglutarate transaminase 1; Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites. Catalyzes the beta- elimination of S-conjugates and Se-conjugates of L- (seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond 9606.ENSP00000399421 CD36 472 Platelet glycoprotein 4; Multifunctional glycoprotein that acts as receptor for a broad range of ligands. Ligands can be of proteinaceous nature like thrombospondin, fibronectin, collagen or amyloid-beta as well as of lipidic nature such as oxidized low-density lipoprotein (oxLDL), anionic phospholipids, long-chain fatty acids and bacterial diacylated lipopeptides. They are generally multivalent and can therefore engage multiple receptors simultaneously, the resulting formation of CD36 clusters initiates signal transduction and internalization of receptor-ligand complexes. The dependen [...] 9606.ENSP00000399441 LRRC70 622 Leucine-rich repeat-containing protein 70; Renders cells highly sensitive to the activation by cytokines and lipopolysaccharide (LPS) 9606.ENSP00000399457 DDOST 456 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Required for efficient N-glycosylation; Glutamine amidotransferase like class 1 domain containing 9606.ENSP00000399465 ATF7 483 Cyclic AMP-dependent transcription factor ATF-7; Plays important functions in early cell signaling. Binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AG][AG]- 3'), a sequence present in many viral and cellular promoters. Activator of the NF-ELAM1/delta-A site of the E-selectin promoter. Has no intrinsic transcriptional activity, but activates transcription on formation of JUN or FOS heterodimers. Also can bind TRE promoter sequences when heterodimerized with members of the JUN family; Basic leucine zipper proteins 9606.ENSP00000399475 JMJD8 285 JmjC domain-containing protein 8; Jumonji domain containing 8 9606.ENSP00000399485 LY6H 161 Lymphocyte antigen 6H; Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response. May play a role in the intracellular trafficking of alpha-7-containing nAChRs and may inhibit their expression at the cell surface. Seems to inhibit alpha-7/CHRNA7 signaling in hippocampal neurons; LY6/PLAUR domain containing 9606.ENSP00000399511 TNIK 1360 TRAF2 and NCK-interacting protein kinase; Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate [...] 9606.ENSP00000399518 SATB1 795 DNA-binding protein SATB1; Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma (By similarity). Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSBS), at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcriptional repressor controlling nuclear and viral gene expression in a phosphorylated and acetylated status-dependent manner, by binding to matrix attachment regions (MARs) of DNA and [...] 9606.ENSP00000399547 ANKRD63 380 Ankyrin repeat domain-containing protein 63; Ankyrin repeat domain containing 9606.ENSP00000399585 MRS2 446 Magnesium transporter MRS2 homolog, mitochondrial; Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix. Required for normal expression of the mitochondrial respiratory complex I subunits; Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family 9606.ENSP00000399588 GAB3 587 GRB2-associated-binding protein 3; Pleckstrin homology domain containing 9606.ENSP00000399664 ZFP69B 534 Zinc finger protein ZFP69B; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000399679 PRG4 1404 Proteoglycan 4; Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to the cartilage surface 9606.ENSP00000399696 ENSG00000248235 291 Uncharacterized protein 9606.ENSP00000399700 PLAC8 115 Placenta-specific gene 8 protein; Placenta specific 8 9606.ENSP00000399709 BEST1 604 Bestrophin-1; Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate; Bestrophins 9606.ENSP00000399711 CT47A6 288 Cancer/testis antigen family 47, member A6 9606.ENSP00000399718 MBIP 344 MAP3K12-binding inhibitory protein 1; Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 9606.ENSP00000399745 CHRM2 466 Muscarinic acetylcholine receptor M2; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol; Cholinergic receptors muscarinic 9606.ENSP00000399797 MOV10 1003 Putative helicase MOV-10; Probable RNA helicase. Required for miRNA-mediated gene silencing by the RNA-induced silencing complex (RISC). Required for both miRNA-mediated translational repression and miRNA- mediated cleavage of complementary mRNAs by RISC; Belongs to the DNA2/NAM7 helicase family. SDE3 subfamily 9606.ENSP00000399805 CRYZ 329 Quinone oxidoreductase; Does not have alcohol dehydrogenase activity. Binds NADP and acts through a one-electron transfer process. Orthoquinones, such as 1,2-naphthoquinone or 9,10-phenanthrenequinone, are the best substrates (in vitro). May act in the detoxification of xenobiotics. Interacts with (AU)-rich elements (ARE) in the 3'-UTR of target mRNA species. Enhances the stability of mRNA coding for BCL2. NADPH binding interferes with mRNA binding 9606.ENSP00000399808 HOXC4 264 Homeobox protein Hox-C4; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000399862 CNOT10 804 CCR4-NOT transcription complex subunit 10; Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Is not required for association of CNOT7 to the CCR4- NOT complex 9606.ENSP00000399863 ZNF839 927 Zinc finger protein 839 9606.ENSP00000399888 HMGA1 107 High mobility group protein HMG-I/HMG-Y; HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions; Canonical high mobility group 9606.ENSP00000399903 NBEAL1 2694 Neurobeachin-like protein 1; Armadillo-like helical domain containing; Belongs to the WD repeat neurobeachin family 9606.ENSP00000399938 FLYWCH1 715 FLYWCH-type zinc finger 1 9606.ENSP00000399968 NCOA2 1464 Nuclear receptor coactivator 2; Transcriptional coactivator for steroid receptors and nuclear receptors. Coactivator of the steroid binding domain (AF- 2) but not of the modulating N-terminal domain (AF-1). Required with NCOA1 to control energy balance between white and brown adipose tissues. Critical regulator of glucose metabolism regulation, acts as RORA coactivator to specifically modulate G6PC expression. Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3. Positively regulates the circadian clock b [...] 9606.ENSP00000399970 PPP2R2D 453 Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform; B regulatory subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. The activity of PP2A complexes containing PPP2R2D (PR55- delta) fluctuate during the cell cycle: the activity is high in interphase and low in mitosis. During mitosis, activity of PP2A is inhibited via interaction with phosphorylated ENSA and ARPP19 inhibitors. Within the PP2A complexes, the B regulatory subunits modulate substrate selectivity and catalytic activity, and also m [...] 9606.ENSP00000399979 SLC52A1 448 Solute carrier family 52, riboflavin transporter, member 1; Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A) 9606.ENSP00000399982 TAF6 714 Transcription initiation factor TFIID subunit 6; TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors; Belongs to the TAF6 family 9606.ENSP00000400010 PTPRJ 1337 Receptor-type tyrosine-protein phosphatase eta; Tyrosine phosphatase which dephosphorylates or contributes to the dephosphorylation of CTNND1, FLT3, PDGFRB, MET, RET (variant MEN2A), KDR, LYN, SRC, MAPK1, MAPK3, EGFR, TJP1, OCLN, PIK3R1 and PIK3R2. Plays a role in cell adhesion, migration, proliferation and differentiation. Involved in vascular development. Regulator of macrophage adhesion and spreading. Positively affects cell-matrix adhesion. Positive regulator of platelet activation and thrombosis. Negative regulator of cell proliferation. Negative regulator of PDGF-stimulated cell [...] 9606.ENSP00000400041 KRTAP5-2 177 Keratin-associated protein 5-2; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family 9606.ENSP00000400046 CT47A8 288 Cancer/testis antigen family 47, member A8 9606.ENSP00000400057 ASRGL1 308 Isoaspartyl peptidase/L-asparaginase; Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L- Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activ [...] 9606.ENSP00000400088 TEN1-CDK3 305 TEN1-CDK3 readthrough (NMD candidate); Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0- G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E [...] 9606.ENSP00000400099 FAM65A 1239 Rho family-interacting cell polarization regulator 1; Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration. Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation. Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation; Belongs to the RIPOR family 9606.ENSP00000400101 SLC25A13 676 Calcium-binding mitochondrial carrier protein Aralar2; Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle; EF-hand domain containing 9606.ENSP00000400113 ZDHHC13 622 Palmitoyltransferase ZDHHC13; Palmitoyltransferase for HTT and GAD2. May play a role in Mg(2+) transport; Belongs to the DHHC palmitoyltransferase family. AKR/ZDHHC17 subfamily 9606.ENSP00000400142 EWSR1 661 RNA-binding protein EWS; Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes; Belongs to the RRM TET family 9606.ENSP00000400157 B3GNT9 402 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 9606.ENSP00000400168 ENSG00000248919 749 ATP5J2-PTCD1 readthrough 9606.ENSP00000400175 RHOA 193 Transforming protein RhoA; Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion. Stimulates PKN2 kinase activity. May be an activator of PLCE1. Activated by ARHGEF2, which promotes the exchange of GDP for GTP. Essential for the SPATA13-mediated r [...] 9606.ENSP00000400184 C17orf89 74 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1). Required to stabilize NDUFAF5 9606.ENSP00000400223 FJX1 437 Four-jointed box protein 1; Acts as an inhibitor of dendrite extension and branching; Belongs to the FJX1/FJ family 9606.ENSP00000400252 DNAI2 605 Dynein intermediate chain 2, axonemal; Part of the dynein complex of respiratory cilia; Belongs to the dynein intermediate chain family 9606.ENSP00000400258 DLGAP2 975 Disks large-associated protein 2; May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane; Belongs to the SAPAP family 9606.ENSP00000400312 ULK3 472 Serine/threonine-protein kinase ULK3; Serine/threonine protein kinase that acts as a regulator of Sonic hedgehog (SHH) signaling and autophagy. Acts as a negative regulator of SHH signaling in the absence of SHH ligand: interacts with SUFU, thereby inactivating the protein kinase activity and preventing phosphorylation of GLI proteins (GLI1, GLI2 and/or GLI3). Positively regulates SHH signaling in the presence of SHH: dissociates from SUFU, autophosphorylates and mediates phosphorylation of GLI2, activating it and promoting its nuclear translocation. Phosphorylates in vitro GLI2, as we [...] 9606.ENSP00000400325 ENSG00000251357 209 Uncharacterized protein 9606.ENSP00000400341 FOXA2 463 Hepatocyte nuclear factor 3-beta; Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity). In embryonic development is required for notochord formation. Invo [...] 9606.ENSP00000400365 LAMA2 3122 Laminin subunit alpha-2; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components 9606.ENSP00000400376 ERAP2 960 Endoplasmic reticulum aminopeptidase 2; Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I- binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic residues Arg and Lys; Aminopeptidases 9606.ENSP00000400391 ZNF146 292 Zinc finger protein 146; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000400433 HNRNPF 415 Heterogeneous nuclear ribonucleoprotein F; Component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Plays a role in the regulation of alternative splicing events. Binds G-rich sequences in pre-mRNAs and keeps target RNA in an unfolded state; RNA binding motif containing 9606.ENSP00000400448 TPRXL 139 Tetra-peptide repeat homeobox-like; PRD class homeoboxes and pseudogenes 9606.ENSP00000400459 SNAP91 907 Clathrin coat assembly protein AP180; Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Binding of AP180 to clathrin triskelia induces their assembly into 60-70 nm coats (By similarity) 9606.ENSP00000400467 RPL9 192 L ribosomal proteins 9606.ENSP00000400471 TMEM106C 250 Transmembrane protein 106C 9606.ENSP00000400482 CMTM3 182 CKLF like MARVEL transmembrane domain containing 3; Belongs to the chemokine-like factor family 9606.ENSP00000400500 THAP5 395 THAP domain-containing protein 5; Has sequence-specific DNA-binding activity and can function as transcriptional repressor (in vitro). May be a regulator of cell cycle: THAP5 overexpression in human cell lines causes cell cycle arrest at G2/M phase; THAP domain containing 9606.ENSP00000400513 FASTKD1 847 FAST kinase domain-containing protein 1, mitochondrial; FASTK mitochondrial RNA binding family 9606.ENSP00000400533 CCL24 119 C-C motif chemokine 24; Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000400591 SNRPE 92 Small nuclear ribonucleoprotein E; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3'-end processing. May indirectly play a role in hair development 9606.ENSP00000400592 CASP16 183 Caspase 16, apoptosis-related cysteine peptidase (putative) 9606.ENSP00000400646 PNPT1 783 Polyribonucleotide nucleotidyltransferase 1, mitochondrial; RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double- stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA [...] 9606.ENSP00000400713 EXOC3L2 409 Exocyst complex component 3-like protein 2; Armadillo-like helical domain containing; Belongs to the SEC6 family 9606.ENSP00000400717 GNA13 377 Guanine nucleotide-binding protein subunit alpha-13; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG). GNA13-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway. Inhibits CDH1-mediated cell adhesion in process independent from Rho a [...] 9606.ENSP00000400736 C1orf159 198 Uncharacterized protein C1orf159; Chromosome 1 open reading frame 159 9606.ENSP00000400803 LRRC69 347 Leucine-rich repeat-containing protein 69; Leucine rich repeat containing 69 9606.ENSP00000400806 APTX 342 Aprataxin; DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'- monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), b [...] 9606.ENSP00000400839 SLC35G2 412 Solute carrier family 35 member G2; May play a role in cell proliferation; Solute carriers 9606.ENSP00000400852 ZNF736 427 Zinc finger protein 736; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000400870 AARSD1 412 Alanyl-tRNA editing protein Aarsd1; Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) 9606.ENSP00000400878 ZNF234 700 Zinc finger protein 234; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000400880 USP17L11 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 11; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000400882 CAPNS2 248 Calpain small subunit 2; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity; EF-hand domain containing 9606.ENSP00000400887 PPIP5K1 1433 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis- diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylat [...] 9606.ENSP00000400892 TESPA1 521 Protein TESPA1; Required for the development and maturation of T-cells, its function being essential for the late stages of thymocyte development (By similarity). Plays a role in T-cell antigen receptor (TCR)-mediated activation of the ERK and NFAT signaling pathways, possibly by serving as a scaffolding protein that promotes the assembly of the LAT signalosome in thymocytes. May play a role in the regulation of inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake via the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment 9606.ENSP00000400895 OTOGL 2344 Otogelin-like protein; Otogelin like 9606.ENSP00000400906 UBE2L3 212 Ubiquitin-conjugating enzyme E2L 3; Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine: in contrast, it has activity with the RBR family E3 enzymes, such as PRKN and ARIH1, that function like function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-linked polyubiquitination. Involved in the [...] 9606.ENSP00000400908 MYBPC1 1173 Myosin-binding protein C, slow-type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role; Belongs to the immunoglobulin superfamily. MyBP family 9606.ENSP00000400921 SLAIN1 590 SLAIN motif-containing protein 1; Microtubule plus-end tracking protein that might be involved in the regulation of cytoplasmic microtubule dynamics, microtubule organization and microtubule elongation; Belongs to the SLAIN motif-containing family 9606.ENSP00000400932 SLC35G1 365 Solute carrier family 35 member G1; May play a role in intracellular calcium sensing and homeostasis. May act as a negative regulator of plasma membrane calcium-transporting ATPases preventing calcium efflux from the cell; Solute carriers 9606.ENSP00000400972 AGAP6 686 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6; Putative GTPase-activating protein; Ankyrin repeat domain containing 9606.ENSP00000400995 BTD 545 Biotinidase; Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation 9606.ENSP00000400997 ZNF780A 642 Zinc finger protein 780A; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000401010 CAPZB 301 F-actin-capping protein subunit beta; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization 9606.ENSP00000401018 GINS3 255 GINS complex subunit 3 9606.ENSP00000401023 HECTD2 780 Probable E3 ubiquitin-protein ligase HECTD2; Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 9606.ENSP00000401089 ANKRD34C 535 Ankyrin repeat domain-containing protein 34C; Ankyrin repeat domain containing; Belongs to the ANKRD34 family 9606.ENSP00000401112 SATB2 733 DNA-binding protein SATB2; Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper- layer neurons (UL1) specific genetic program and for th [...] 9606.ENSP00000401115 SS18L2 77 SS18-like protein 2; SS18 like 2; Belongs to the SS18 family 9606.ENSP00000401145 GAS2 313 Growth arrest-specific protein 2; May play a role in apoptosis by acting as a cell death substrate for caspases. Is cleaved during apoptosis and the cleaved form induces dramatic rearrangements of the actin cytoskeleton and potent changes in the shape of the affected cells. May be involved in the membrane ruffling process (By similarity) 9606.ENSP00000401191 WBSCR22 298 Probable 18S rRNA (guanine-N(7))-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA. Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity. Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity. Locus-specific steroid receptor coactivator. Potentiates transactivat [...] 9606.ENSP00000401197 USP19 1419 Ubiquitin carboxyl-terminal hydrolase 19; Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin- dependent degradation thereby playing a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic- reticulum-associated degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their ub [...] 9606.ENSP00000401264 CTPS2 586 CTP synthase 2; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides 9606.ENSP00000401277 CBLL1 491 E3 ubiquitin-protein ligase Hakai; Promotes ubiquitination of several tyrosine- phosphorylated Src substrates, including CDH1, CTTN and DOK1. Targets CDH1 for endocytosis and degradation; Ring finger proteins 9606.ENSP00000401303 SHC1 584 SHC-transforming protein 1; Signaling adapter that couples activated growth factor receptors to signaling pathways. Participates in a signaling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals. Isoform p46Shc and isoform p52Shc may thus function as initiators of the Ras signaling cascade in various non-neuronal systems. Isoform p66Shc does not mediate Ras activation, [...] 9606.ENSP00000401310 FRG2B 278 Protein FRG2-like-1; FSHD region gene 2 family member B 9606.ENSP00000401328 PRSS48 328 Serine protease 48; Belongs to the peptidase S1 family 9606.ENSP00000401335 C16orf90 182 Uncharacterized protein C16orf90; Chromosome 16 open reading frame 90 9606.ENSP00000401338 TMEM8A 771 Post-GPI attachment to proteins factor 6; Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells. Also indirectly involved in the tr [...] 9606.ENSP00000401371 TIA1 386 Nucleolysin TIA-1 isoform p40; Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis 9606.ENSP00000401381 LOC388813 152 annotation not available 9606.ENSP00000401399 MYD88 317 Myeloid differentiation primary response protein MyD88; Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response. Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Increases IL-8 transcription. Involved in IL-18-mediated signaling pathway. Activates IRF1 resulting in its rapid migration into the nucleus to mediate an efficient induction of IFN-beta, NOS2/INOS, and IL12A genes. MyD88-mediated signaling in intestinal epithelial cells is crucial for maintena [...] 9606.ENSP00000401435 VPS53 832 Vacuolar protein sorting-associated protein 53 homolog; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized tr [...] 9606.ENSP00000401437 LDB3 732 LIM domain-binding protein 3; LIM domain containing 9606.ENSP00000401445 ERN1 977 Serine/threonine-protein kinase/endoribonuclease IRE1; Senses unfolded proteins in the lumen of the endoplasmic reticulum via its N-terminal domain which leads to enzyme auto- activation. The active endoribonuclease domain splices XBP1 mRNA to generate a new C-terminus, converting it into a potent unfolded-protein response transcriptional activator and triggering growth arrest and apoptosis 9606.ENSP00000401470 RANGAP1 587 Ran GTPase-activating protein 1; GTPase activator for the nuclear Ras-related regulatory protein Ran, converting it to the putatively inactive GDP-bound state 9606.ENSP00000401477 TMEM232 657 Transmembrane protein 232 9606.ENSP00000401498 C11orf94 98 Uncharacterized protein C11orf94; Chromosome 11 open reading frame 94 9606.ENSP00000401502 SIGLEC6 453 Sialic acid-binding Ig-like lectin 6; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface; Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family 9606.ENSP00000401508 NAPRT 538 Nicotinate phosphoribosyltransferase; Catalyzes the conversion of nicotinic acid (NA) to NA mononucleotide (NaMN). Essential for NA to increase cellular NAD levels and prevent oxidative stress of the cells; Belongs to the NAPRTase family 9606.ENSP00000401513 STRC 1775 Stereocilin; Essential to the formation of horizontal top connectors between outer hair cell stereocilia; Belongs to the stereocilin family 9606.ENSP00000401514 DNAH1 4265 Dynein heavy chain 1, axonemal; Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme; Belongs to the dynein heavy chain family 9606.ENSP00000401535 ENSG00000248751 480 Uncharacterized protein 9606.ENSP00000401536 RFX8 473 DNA-binding protein RFX8; May be a transcription factor; Regulatory factor X family 9606.ENSP00000401564 RANBP1 278 Ran-specific GTPase-activating protein; Inhibits GTP exchange on Ran. Forms a Ran-GTP-RANBP1 trimeric complex. Increase GTP hydrolysis induced by the Ran GTPase activating protein RANGAP1. May act in an intracellular signaling pathway which may control the progression through the cell cycle by regulating the transport of protein and nucleic acids across the nuclear membrane 9606.ENSP00000401566 ECD 677 Protein ecdysoneless homolog; Regulator of p53/TP53 stability and function. Inhibits MDM2-mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP. May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes. Involved in regulation of cell cycle progression. Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins. The cell cycle -regulating function may depend on its RUVBL1-mediated association with the [...] 9606.ENSP00000401597 DTHD1 781 Death domain containing 1 9606.ENSP00000401633 MYO16 1880 Unconventional myosin-XVI; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. May be involved in targeting of the catalytic subunit of protein phosphatase 1 during brain development. Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis (By similarity); In the C-terminal section; belongs to the NYAP family 9606.ENSP00000401645 SERPINB2 415 Plasminogen activator inhibitor 2; Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell- derived PAI-1; Belongs to the serpin family. Ov-serpin subfamily 9606.ENSP00000401678 MYOCD 986 Myocardin; Smooth muscle cells (SM) and cardiac muscle cells- specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity); Myocardin family 9606.ENSP00000401701 PRSS42 293 Serine protease 42; Belongs to the peptidase S1 family 9606.ENSP00000401706 OR5H14 310 Olfactory receptor 5H14; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000401720 GK 559 Glycerol kinase; Key enzyme in the regulation of glycerol uptake and metabolism; Belongs to the FGGY kinase family 9606.ENSP00000401721 PAN2 1202 PAN2-PAN3 deadenylation complex catalytic subunit PAN2; Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent [...] 9606.ENSP00000401749 P4HA3 604 Prolyl 4-hydroxylase subunit alpha-3; Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins; Belongs to the P4HA family 9606.ENSP00000401764 CITED1 219 Cbp/p300-interacting transactivator 1; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional c [...] 9606.ENSP00000401770 C14orf2 75 6.8 kDa mitochondrial proteolipid; Chromosome 14 open reading frame 2 9606.ENSP00000401802 PSMC6 403 26S proteasome regulatory subunit 10B; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC6 belongs to the heterohexameric ring of AAA (ATPases associated wi [...] 9606.ENSP00000401831 ACSF2 640 Acyl-CoA synthetase family member 2, mitochondrial; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation; Acyl-CoA synthetase family 9606.ENSP00000401853 HYAL2 473 Hyaluronidase-2; Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R; Belongs to the glycosyl hydrolase 56 family 9606.ENSP00000401867 MXD3 206 Max dimerization protein 3; Transcriptional repressor. Binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000401878 KBTBD8 601 Kelch repeat and BTB domain-containing protein 8; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification. The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification; BTB domain containing 9606.ENSP00000401907 BMPR1B 532 Bone morphogenetic protein receptor type-1B; On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily 9606.ENSP00000401932 PRSS45 228 Uncharacterized protein; Serine protease 45 9606.ENSP00000401946 TNRC6B 1833 Trinucleotide repeat-containing gene 6B protein; Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes; Armadillo-like helical domain containing 9606.ENSP00000401947 ZNF223 482 Zinc finger protein 223; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000401966 OR1M1 313 Olfactory receptor 1M1; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000401980 MAVS 540 Mitochondrial antiviral-signaling protein; Required for innate immune defense against viruses. Acts downstream of DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFN-beta and RANTES (CCL5). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state. Upon viral infection, peroxisomal MAVS induces the rapid interferon- independent expression of defense factors that provi [...] 9606.ENSP00000402000 SEPT4 493 Septin-4; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation. May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli; Septins 9606.ENSP00000402020 C17orf58 97 UPF0450 protein C17orf58; Chromosome 17 open reading frame 58 9606.ENSP00000402033 PDZD2 2839 PDZ domain containing 2 9606.ENSP00000402038 MTO1 732 Protein MTO1 homolog, mitochondrial; Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs; Belongs to the MnmG family 9606.ENSP00000402060 PVR 417 Poliovirus receptor; Mediates NK cell adhesion and triggers NK cell effector functions. Binds two different NK cell receptors: CD96 and CD226. These interactions accumulates at the cell-cell contact site, leading to the formation of a mature immunological synapse between NK cell and target cell. This may trigger adhesion and secretion of lytic granules and IFN-gamma and activate cytoxicity of activated NK cells. May also promote NK cell-target cell modular exchange, and PVR transfer to the NK cell. This transfer is more important in some tumor cells expressing a lot of PVR, and may tri [...] 9606.ENSP00000402084 WEE1 646 Wee1-like protein kinase; Acts as a negative regulator of entry into mitosis (G2 to M transition) by protecting the nucleus from cytoplasmically activated cyclin B1-complexed CDK1 before the onset of mitosis by mediating phosphorylation of CDK1 on 'Tyr-15'. Specifically phosphorylates and inactivates cyclin B1-complexed CDK1 reaching a maximum during G2 phase and a minimum as cells enter M phase. Phosphorylation of cyclin B1-CDK1 occurs exclusively on 'Tyr-15' and phosphorylation of monomeric CDK1 does not occur. Its activity increases during S and G2 phases and decreases at M phase wh [...] 9606.ENSP00000402092 SAMD3 544 Sterile alpha motif domain containing 3 9606.ENSP00000402103 HK1 921 Hexokinase-1; Hexokinase 1 9606.ENSP00000402151 C5orf66 145 Putative uncharacterized protein C5orf66; Chromosome 5 open reading frame 66 9606.ENSP00000402152 SLC12A3 1030 Solute carrier family 12 member 3; Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption. Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity) 9606.ENSP00000402153 IQCJ 159 IQ motif containing J 9606.ENSP00000402154 MEF2B 368 Myocyte-specific enhancer factor 2B; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription; MADS box family 9606.ENSP00000402219 VSIG1 423 V-set and immunoglobulin domain containing 1; IgCAM CXADR-related subfamily 9606.ENSP00000402257 RUNX1T1 663 Protein CBFA2T1; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Can repress transactivation mediated by TCF12. Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal; Zinc fingers MYND-type 9606.ENSP00000402297 LACTBL1 546 Putative beta-lactamase-like 1; Lactamase beta like 1; Belongs to the beta-lactamase family 9606.ENSP00000402301 LAPTM4B 317 Lysosomal-associated transmembrane protein 4B; Required for optimal lysosomal function. Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation. Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTOR [...] 9606.ENSP00000402338 RPF2 306 Ribosome production factor 2 homolog; Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus 9606.ENSP00000402343 ZNF469 3925 Zinc finger protein 469; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000402346 COPG2 871 Coatomer subunit gamma-2; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also i [...] 9606.ENSP00000402355 CDRT15 188 CMT1A duplicated region transcript 15 9606.ENSP00000402373 ACTA2 377 Actin, aortic smooth muscle; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells; Belongs to the actin family 9606.ENSP00000402394 CHST15 561 Carbohydrate sulfotransferase 15; Sulfotransferase that transfers sulfate from 3'- phosphoadenosine 5'-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units. It also transfers sulfate to a unique non- reducing terminal sequence, GalNAc(4SO4)-GlcA(2SO4)-GalNAc(6SO4), to yield a highly sulfated structure similar to the structure found in thrombomodulin chondroitin sulfate. May also act as a B- cell receptor involved in BCR ligation-mediated early activation [...] 9606.ENSP00000402414 TRIM48 224 Tripartite motif containing 48; Belongs to the TRIM/RBCC family 9606.ENSP00000402457 GRAMD1B 745 GRAM domain containing 1B 9606.ENSP00000402460 CLSTN2 955 Calsyntenin-2; May modulate calcium-mediated postsynaptic signals; Cadherin related 9606.ENSP00000402505 CPAMD8 1932 C3 and PZP like, alpha-2-macroglobulin domain containing 8; Belongs to the protease inhibitor I39 (alpha-2- macroglobulin) family 9606.ENSP00000402515 SMG1 3661 Serine/threonine-protein kinase SMG1; Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction comple [...] 9606.ENSP00000402527 SENP6 1112 Sentrin-specific protease 6; Protease that deconjugates SUMO1, SUMO2 and SUMO3 from targeted proteins. Processes preferentially poly-SUMO2 and poly- SUMO3 chains, but does not efficiently process SUMO1, SUMO2 and SUMO3 precursors. Deconjugates SUMO1 from RXRA, leading to transcriptional activation. Involved in chromosome alignment and spindle assembly, by regulating the kinetochore CENPH-CENPI-CENPK complex. Desumoylates PML and CENPI, protecting them from degradation by the ubiquitin ligase RNF4, which targets polysumoylated proteins for proteasomal degradation. Desumoylates also RPA1 [...] 9606.ENSP00000402537 MTMR10 777 Myotubularin-related protein 10; Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential); Myotubularins 9606.ENSP00000402584 MDGA1 955 MAM domain-containing glycosylphosphatidylinositol anchor protein 1; Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2; I-set domain containing 9606.ENSP00000402608 CPS1 1506 Carbamoyl-phosphate synthase [ammonia], mitochondrial; Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell 9606.ENSP00000402644 ENSG00000251537 953 Uncharacterized protein 9606.ENSP00000402653 WDR83 315 WD repeat domain-containing protein 83; Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activato [...] 9606.ENSP00000402661 TMEM177 311 Transmembrane protein 177 9606.ENSP00000402674 BHMG1 638 Basic helix-loop-helix and HMG box domain-containing protein 1 9606.ENSP00000402703 NBPF6 638 Neuroblastoma breakpoint family member 6; NBPF member 6 9606.ENSP00000402756 NR2C2AP 167 Nuclear receptor 2C2-associated protein; May act as a repressor of NR2C2-mediated transactivation by suppressing the binding between NR2C2/TR4 and the TR4-response element in target genes; Belongs to the NR2C2AP family 9606.ENSP00000402758 PMEL 668 Melanocyte protein PMEL; Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity 9606.ENSP00000402790 TMEM235 223 Transmembrane protein 235; Belongs to the PMP-22/EMP/MP20 family 9606.ENSP00000402855 TREML1 311 Trem-like transcript 1 protein; Cell surface receptor that may play a role in the innate and adaptive immune response; V-set domain containing 9606.ENSP00000402861 PLCL1 1095 Inactive phospholipase C-like protein 1; Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C; C2 domain containing phospholipases 9606.ENSP00000402915 C2orf74 194 Uncharacterized protein C2orf74; Chromosome 2 open reading frame 74 9606.ENSP00000402935 TBC1D5 817 TBC1 domain family member 5; May act as a GTPase-activating protein (GAP) for Rab family protein(s). May act as a GAP for RAB7A. Can displace RAB7A and retromer CSC subcomplex from the endosomal membrane to the cytosol; at least retromer displacement seems to require its catalytic activity. Required for retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN); the function seems to require its catalytic activity. Involved in regulation of autophagy. May act as a molecular switch between endosomal and autophagosomal transport and is involved in reprogrammin [...] 9606.ENSP00000402949 FAM58A 228 Cyclin-Q; Activating cyclin for the cyclin-associated kinase CDK10; Belongs to the cyclin family. Cyclin-like FAM58 subfamily 9606.ENSP00000403042 PHTF2 751 Putative homeodomain transcription factor 2; May play a role in transcription regulation 9606.ENSP00000403067 FRMD5 570 FERM domain-containing protein 5; May be involved in regulation of cell migration. May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation; FERM domain containing 9606.ENSP00000403077 VKORC1L1 177 Vitamin K epoxide reductase complex subunit 1 like 1 9606.ENSP00000403104 SIGIRR 410 Single Ig IL-1-related receptor; Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Attenuates the recruitment of receptor-proximal signaling components to the TLR4 receptor, probably through an TIR-TIR domain interaction with TLR4. Through its extracellular domain interferes with the heterodimerization of Il1R1 and IL1RAP 9606.ENSP00000403117 MFSD1 514 Major facilitator superfamily domain containing 1 9606.ENSP00000403130 TMEM233 109 Interferon induced transmembrane protein domain containing 9606.ENSP00000403151 C10orf105 133 Uncharacterized protein C10orf105; Chromosome 10 open reading frame 105 9606.ENSP00000403172 RPL6 288 60S ribosomal protein L6; Component of the large ribosomal subunit 9606.ENSP00000403181 ENSG00000233438 261 Uncharacterized protein 9606.ENSP00000403208 MAP10 1047 Microtubule-associated protein 10; Microtubule-associated protein (MAP) that plays a role in the regulation of cell division; promotes microtubule stability and participates in the organization of the spindle midzone and normal progress of cytokinesis 9606.ENSP00000403210 EMC9 208 ER membrane protein complex subunit 9 9606.ENSP00000403293 FBXO43 708 F-box only protein 43; Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (Probable); F-boxes other 9606.ENSP00000403302 ANKRD36C 1778 Ankyrin repeat domain-containing protein 36C; Ankyrin repeat domain containing 9606.ENSP00000403310 SNRNP35 251 Small nuclear ribonucleoprotein U11/U12 subunit 35; RNA binding motif containing 9606.ENSP00000403323 ARHGAP27 889 Rho GTPase-activating protein 27; Rho GTPase-activating protein which may be involved in clathrin-mediated endocytosis. GTPase activators for the Rho-type GTPases act by converting them to an inactive GDP-bound state. Has activity toward CDC42 and RAC1 (By similarity); Pleckstrin homology domain containing 9606.ENSP00000403396 FAM126A 521 Hyccin; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P. Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system. May also have a role in the beta-catenin/Lef signaling pathway (Probable) 9606.ENSP00000403397 ZDHHC17 632 Palmitoyltransferase ZDHHC17; Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT. Palmitoylates MPP1 in erythrocytes. May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane. May play a role in Mg(2+) transport; Ankyrin repeat domain containing 9606.ENSP00000403400 CCPG1 807 Cell cycle progression protein 1; Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42 (By similarity). May be involved in cell cycle regulation; Belongs to the CCPG1 family 9606.ENSP00000403441 ZNF30 624 Zinc finger protein 30; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000403453 ODF2 829 Outer dense fiber protein 2; Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to th [...] 9606.ENSP00000403459 GRB7 555 Growth factor receptor-bound protein 7; Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phos [...] 9606.ENSP00000403465 CC2D2A 1620 Coiled-coil and C2 domain-containing protein 2A; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity) 9606.ENSP00000403495 LTA 205 Lymphotoxin-alpha; Cytokine that in its homotrimeric form binds to TNFRSF1A/TNFR1, TNFRSF1B/TNFBR and TNFRSF14/HVEM. In its heterotrimeric form with LTB binds to TNFRSF3/LTBR. Lymphotoxin is produced by lymphocytes and cytotoxic for a wide range of tumor cells in vitro and in vivo; Tumor necrosis factor superfamily 9606.ENSP00000403524 BRAP 592 BRCA1-associated protein; Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein. Also acts as a Ras responsive E3 ubiquitin ligase that, on activation of Ras, is modified by auto- polyubiquitination resulting in the release of inhibition of Raf/MEK complex formation. May also act as a cytoplasmic retention protein with a role in regulating nuclear transport; Ring finger proteins 9606.ENSP00000403536 GAMT 269 Guanidinoacetate N-methyltransferase; Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor. Important in nervous system development; Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family 9606.ENSP00000403566 C20orf173 202 Uncharacterized protein C20orf173; Chromosome 20 open reading frame 173 9606.ENSP00000403614 MRPL55 164 Mitochondrial ribosomal protein L55 9606.ENSP00000403636 SYNGAP1 1343 Ras/Rap GTPase-activating protein SynGAP; Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR- mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits (By similarity); C2 and [...] 9606.ENSP00000403644 DDC 480 Aromatic-L-amino-acid decarboxylase; Catalyzes the decarboxylation of L-3,4- dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine 9606.ENSP00000403645 TANGO2 317 Transport and golgi organization 2 homolog 9606.ENSP00000403649 CGB8 165 Choriogonadotropin subunit beta variant 2; Chorionic gonadotropin beta subunit 8; Belongs to the glycoprotein hormones subunit beta family 9606.ENSP00000403681 PRM2 140 Protamine-2; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex 9606.ENSP00000403683 NABP1 204 SOSS complex subunit B2; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-s [...] 9606.ENSP00000403701 ARRB2 430 Beta-arrestin-2; Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta-arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G- protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and rec [...] 9606.ENSP00000403760 USP17L10 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 10; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000403802 FBXO10 956 F-box only protein 10; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex. The SCF(FBXO10) complex mediates ubiquitination and degradation of BCL2, an antiapoptotic protein, thereby playing a role in apoptosis by controlling the stability of BCL2; F-boxes other 9606.ENSP00000403852 POLR2F 127 DNA-directed RNA polymerases I, II, and III subunit RPABC2; DNA-dependent RNA polymerases catalyze the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II, and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPB6 is part of the [...] 9606.ENSP00000403902 PPP1R13L 828 RelA-associated inhibitor; Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis 9606.ENSP00000403910 ATP5SL 263 Distal membrane-arm assembly complex protein 2; Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I; Belongs to the ATP synthase subunit s family 9606.ENSP00000403925 TBCEL 424 Tubulin-specific chaperone cofactor E-like protein; Acts as a regulator of tubulin stability 9606.ENSP00000403932 EFCAB3 490 EF-hand calcium-binding domain-containing protein 3; EF-hand calcium binding domain 3 9606.ENSP00000403937 C11orf74 221 Uncharacterized protein C11orf74; Chromosome 11 open reading frame 74 9606.ENSP00000403954 TENM1 2732 Teneurin-1; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity) 9606.ENSP00000403980 CLDN34 214 Claudin-34; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity 9606.ENSP00000403987 C15orf40 167 UPF0235 protein C15orf40; Chromosome 15 open reading frame 40 9606.ENSP00000404042 TMED4 227 Transmembrane emp24 domain-containing protein 4; Involved in vesicular protein trafficking, mainly in the early secretory pathway. targeting. Involved in the maintenance of the Golgi apparatus. Appears to play a role in the biosynthesis of secreted cargo including processing. Involved in endoplasmic reticulum stress response. May play a role in the regulation of heat-shock response and apoptosis (By similarity); Transmembrane p24 trafficking proteins 9606.ENSP00000404074 ZSCAN9 445 Zinc finger and SCAN domain containing 9 9606.ENSP00000404079 DNAJB5 462 DnaJ heat shock protein family member B5 9606.ENSP00000404092 SMC6 1091 Structural maintenance of chromosomes protein 6; Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Req [...] 9606.ENSP00000404100 PAX6 436 Paired box protein Pax-6; Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes; Belongs to the paired homeobox family 9606.ENSP00000404102 OR2V1 315 Olfactory receptor 2V1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000404121 ILF3 898 Interleukin enhancer-binding factor 3; RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back- splicing circularization of pre-mRNAs. Within the nucleus, promotes circRNAs processing by stabilizing the regulatory elements residing in the flanking introns of the circularized exons. Plays thereby a role in the back-splicing of a subset of circRNAs. As a consequence, participates in a wide range of transcriptional and post-transcriptional processes. Upon viral infection, ILF3 accumulates in the cytoplasm and participates i [...] 9606.ENSP00000404122 IFT74 600 Intraflagellar transport protein 74 homolog; Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis; Belongs to the IFT74 family 9606.ENSP00000404123 GAGE12F 117 G antigen 12F; Belongs to the GAGE family 9606.ENSP00000404127 ENSG00000242852 641 Zinc finger protein 709; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000404151 CEP170B 1554 Centrosomal protein of 170 kDa protein B; Plays a role in microtubule organization 9606.ENSP00000404179 DOCK4 1966 Dedicator of cytokinesis protein 4; Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP; DOCK C2 domain containing 9606.ENSP00000404190 RACGAP1 632 Rac GTPase-activating protein 1; Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Required for proper attachment of the midbody to the cell membrane during cytokinesis. Plays key roles in controlling cell growth and differentiation of hematopoietic cells through mechanisms other than regulating Rac GTPase activity. Also involved in the regulation of growth-related processes in adipocytes and myoblasts. May be involved in regulating spermatogene [...] 9606.ENSP00000404203 CKMT2 419 Creatine kinase S-type, mitochondrial; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa; Belongs to the ATP:guanido phosphotransferase family 9606.ENSP00000404220 CCDC155 562 Protein KASH5; As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis and for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redunda [...] 9606.ENSP00000404232 EFHC2 749 EF-hand domain-containing family member C2; EF-hand domain containing 2 9606.ENSP00000404236 LILRA5 299 Leukocyte immunoglobulin-like receptor subfamily A member 5; May play a role in triggering innate immune responses. Does not seem to play a role for any class I MHC antigen recognition; Activating leukocyte immunoglobulin like receptors 9606.ENSP00000404247 ARL17B 177 ADP-ribosylation factor-like protein 17; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity); ARF GTPase family 9606.ENSP00000404251 VGLL4 296 Transcription cofactor vestigial-like protein 4; May act as a specific coactivator for the mammalian TEFs; Vestigial like family 9606.ENSP00000404281 PRR20E 221 Proline rich 20E 9606.ENSP00000404296 PLEKHA5 1282 Pleckstrin homology domain containing A5 9606.ENSP00000404304 ARMCX4 2290 Armadillo repeat containing, X-linked 4; Belongs to the eutherian X-chromosome-specific Armcx family 9606.ENSP00000404375 RPL36A 142 Ribosomal protein L36a 9606.ENSP00000404381 DNAJB14 379 DnaJ homolog subfamily B member 14; Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway. Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers. While stabilization of nas [...] 9606.ENSP00000404432 LIMS3L 117 LIM and senescent cell antigen-like domains 3-like 9606.ENSP00000404438 SOHLH1 387 Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1; Transcription factor expressed in undifferentiated spermatogonia required for spermatogonial development; Basic helix-loop-helix proteins 9606.ENSP00000404439 NPIPB4 1138 Nuclear pore complex interacting protein family member B4 9606.ENSP00000404464 CCBE1 406 Collagen and calcium-binding EGF domain-containing protein 1; Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis; Belongs to the CCBE1 family 9606.ENSP00000404503 BBC3 261 Bcl-2-binding component 3; Essential mediator of p53/TP53-dependent and p53/TP53- independent apoptosis. Isoform 3 fails to show any growth- inhibitory or apoptotic activity; BCL2 homology region 3 only 9606.ENSP00000404517 KRTAP21-3 58 Keratin-associated protein 21-3; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000404570 MYH13 1938 Myosin-13; Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles; Myosin heavy chains 9606.ENSP00000404583 C5orf60 277 Putative uncharacterized protein C5orf60; Chromosome 5 open reading frame 60 9606.ENSP00000404658 EZH1 747 Histone-lysine N-methyltransferase EZH1; Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH1 complex, which methylates 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Required for embryonic stem cell derivation and self-renewal, suggesting that it is involved in safeguarding embryonic stem cell identity. Compared to EZH2-containing complexes, it is less abundant in embryonic stem cells, has weak methyltransferase a [...] 9606.ENSP00000404676 PGGT1B 377 Geranylgeranyl transferase type-1 subunit beta; Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to a cysteine at the fourth position from the C-terminus of proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. Known substrates include RAC1, RAC2, RAP1A and RAP1B 9606.ENSP00000404700 SLMO1 172 PRELI domain containing protein 3A; In vitro, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space. Phosphatidic acid import is required for cardiolipin (CL) synthesis in the mitochondrial inner membrane; Belongs to the slowmo family 9606.ENSP00000404704 VPS8 1426 Vacuolar protein sorting-associated protein 8 homolog; Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpo [...] 9606.ENSP00000404705 NAALADL2 795 Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2; May be catalytically inactive; Belongs to the peptidase M28 family. M28B subfamily 9606.ENSP00000404718 MGAT1 445 Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans; Mannosyl-glycoprotein N-acetylglucosaminyltransferases 9606.ENSP00000404782 AKAP2 961 A-kinase anchor protein 2; Binds to regulatory subunit (RII) of protein kinase A. May be involved in establishing polarity in signaling systems or in integrating PKA-RII isoforms with downstream effectors to capture, amplify and focus diffuse, trans-cellular signals carried by cAMP (By similarity); A-kinase anchoring proteins 9606.ENSP00000404833 TAPBP 504 Tapasin; Involved in the association of MHC class I with transporter associated with antigen processing (TAP) and in the assembly of MHC class I with peptide (peptide loading); C1-set domain containing 9606.ENSP00000404843 HEMK1 338 HemK methyltransferase family member 1; N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrial translation release factor MTRF1L; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000404854 NDRG1 394 Protein NDRG1; Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53- mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regu [...] 9606.ENSP00000404860 SCHIP1 244 Schwannomin interacting protein 1, isoform CRA_c; May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments. May also play a role in axon outgrowth and guidance (By similarity) 9606.ENSP00000404873 ENSG00000277669 165 Uncharacterized protein; Nicotinate-nucleotide pyrophosphorylase [carboxylating] 9606.ENSP00000404911 C6orf49 384 Prickle planar cell polarity protein 4; Belongs to the prickle / espinas / testin family 9606.ENSP00000404923 TECPR1 1165 Tectonin beta-propeller repeat-containing protein 1; Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation; Belongs to the TECPR1 family 9606.ENSP00000404991 TMEM120B 339 Transmembrane protein 120B; Necessary for efficient adipogenesis; Belongs to the TMEM120 family 9606.ENSP00000405012 WDR87 2912 WD repeat-containing protein 87; Armadillo-like helical domain containing 9606.ENSP00000405032 GSG1 339 Germ cell-specific gene 1 protein; May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum 9606.ENSP00000405068 NOP14 857 Nucleolar protein 14; Involved in nucleolar processing of pre-18S ribosomal RNA. Has a role in the nuclear export of 40S pre-ribosomal subunit to the cytoplasm (By similarity); Belongs to the NOP14 family 9606.ENSP00000405095 TAS2R39 338 Taste receptor type 2 member 39; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000405111 DHX57 1386 Putative ATP-dependent RNA helicase DHX57; Probable ATP-binding RNA helicase; Belongs to the DEAD box helicase family. DEAH subfamily 9606.ENSP00000405165 LIMS3 117 LIM and senescent cell antigen-like-containing domain protein 3; LIM zinc finger domain containing 3 9606.ENSP00000405202 SPANXB2 103 Sperm protein associated with the nucleus on the X chromosome B1; SPANX family, member B2 9606.ENSP00000405210 SPANXN4 99 Sperm protein associated with the nucleus on the X chromosome N4; SPANX family member N4; Belongs to the SPAN-X family 9606.ENSP00000405218 ZNF347 840 Zinc finger protein 347; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000405222 DCAF8L1 600 DDB1- and CUL4-associated factor 8-like protein 1; DDB1 and CUL4 associated factor 8 like 1; Belongs to the WD repeat DCAF8 family 9606.ENSP00000405252 AKAP7 348 A-kinase anchor protein 7 isoform gamma; Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane- associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium; A-kinase anchoring proteins 9606.ENSP00000405289 ZNF778 757 Zinc finger protein 778; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000405327 ETV1 477 ETS translocation variant 1; Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'; Belongs to the ETS family 9606.ENSP00000405330 ESR1 595 Estrogen receptor; Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA- binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial a [...] 9606.ENSP00000405338 INPP5D 1189 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol- 3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Acts as a negative regulator of B-cell antigen receptor signaling. Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Acts as a negative regulator of mye [...] 9606.ENSP00000405388 CA10 328 Carbonic anhydrase-related protein 10; Does not have a catalytic activity; Belongs to the alpha-carbonic anhydrase family 9606.ENSP00000405405 PHLDB2 1253 Pleckstrin homology-like domain family B member 2; Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity); Pleckstrin homology domain containing 9606.ENSP00000405423 HHATL 504 Protein-cysteine N-palmitoyltransferase HHAT-like protein; Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN; Belongs to the membrane-bound acyltransferase family. HHAT subfamily 9606.ENSP00000405424 OXR1 874 Oxidation resistance protein 1; May be involved in protection from oxidative damage 9606.ENSP00000405482 SVOPL 492 Putative transporter SVOPL; SVOP like; Belongs to the major facilitator superfamily 9606.ENSP00000405514 PPP1R9A 1374 Neurabin-1; Binds to actin filaments (F-actin) and shows cross- linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1- alpha activity (By similarity); PDZ domain containing 9606.ENSP00000405573 GPI 569 Glucose-6-phosphate isomerase; Besides it's role as a glycolytic enzyme, mammalian GPI can function as a tumor-secreted cytokine and an angiogenic factor (AMF) that stimulates endothelial cell motility. GPI is also a neurotrophic factor (Neuroleukin) for spinal and sensory neurons 9606.ENSP00000405574 TBL1XR1 514 F-box-like/WD repeat-containing protein TBL1XR1; F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation; Belongs to the WD repeat EBI family 9606.ENSP00000405575 CHMP3 251 Charged multivesicular body protein 3; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function [...] 9606.ENSP00000405577 CLMP 373 CXADR-like membrane protein; May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development; I-set domain containing 9606.ENSP00000405620 DHX30 1194 Putative ATP-dependent RNA helicase DHX30; Plays an important role in the assembly of the mitochondrial large ribosomal subunit. Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA; DEAH-box helicases 9606.ENSP00000405635 CNEP1R1 142 CTD nuclear envelope phosphatase 1 regulatory subunit 1 9606.ENSP00000405674 NOL7 257 Nucleolar protein 7 9606.ENSP00000405676 ENSG00000254706 150 Uncharacterized protein; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein 9606.ENSP00000405699 ZNF837 531 Zinc finger protein 837; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000405708 CCDC39 941 Coiled-coil domain-containing protein 39; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly 9606.ENSP00000405726 CDC45 598 Cell division control protein 45 homolog; Required for initiation of chromosomal DNA replication 9606.ENSP00000405738 ESRP1 681 Epithelial splicing regulatory protein 1; mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2; Belongs to the ESRP family 9606.ENSP00000405812 SLC4A8 1093 Electroneutral sodium bicarbonate exchanger 1; Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+):HCO3(-) stoichiometry of 2:1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity; Solute carriers 9606.ENSP00000405841 RXFP1 784 Relaxin receptor 1; Receptor for relaxins. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. Binding of the ligand may also activate a tyrosine kinase pathway that inhibits the activity of a phosphodiesterase that degrades cAMP; Relaxin family peptide receptors 9606.ENSP00000405890 PBX1 430 Pre-B-cell leukemia transcription factor 1; Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhanc [...] 9606.ENSP00000405899 AQP12A 307 Aquaporin-12A; Aquaporins facilitate the transport of water and small neutral solutes across cell membranes; Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily 9606.ENSP00000405926 TMED7 224 Transmembrane emp24 domain-containing protein 7; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post- translational modifications; Transmembrane p24 trafficking proteins 9606.ENSP00000405950 PNCK 426 Calcium/calmodulin-dependent protein kinase type 1B; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates CREB1 and SYN1/synapsin I. Phosphorylates and activates CAMK1 (By similarity) 9606.ENSP00000405963 RASGRF1 1273 Ras-specific guanine nucleotide-releasing factor 1; Promotes the exchange of Ras-bound GDP by GTP; Pleckstrin homology domain containing 9606.ENSP00000405965 SUMO2 95 Small ubiquitin-related modifier 2; Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2, CBX4 or ZNF451. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Polyme [...] 9606.ENSP00000405969 ACBD4 341 acyl-CoA binding domain containing 4 9606.ENSP00000405987 LRRD1 860 Leucine rich repeats and death domain containing 1 9606.ENSP00000406012 IFT140 1462 Intraflagellar transport protein 140 homolog; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance. May play a role in ciliary assembly. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity); Intraflagellar transport proteins 9606.ENSP00000406022 UNC5C 931 Netrin receptor UNC5C; Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion. Also involved in corticospinal tract axon guidances independently of DCC. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand; Belongs to the unc-5 family 9606.ENSP00000406026 SH2D5 423 SH2 domain-containing protein 5; May be involved in synaptic plasticity regulation through the control of Rac-GTP levels 9606.ENSP00000406027 EPM2AIP1 607 EPM2A interacting protein 1 9606.ENSP00000406037 KAT8 467 Histone acetyltransferase KAT8; Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex. Can also acetylate TP53/p53 at 'Lys-120' 9606.ENSP00000406046 POLD1 1107 DNA polymerase delta catalytic subunit; As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities. Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proo [...] 9606.ENSP00000406047 TSGA13 275 Testis-specific gene 13 protein; Testis specific 13 9606.ENSP00000406050 HTR3E 482 5-hydroxytryptamine receptor 3E; This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor is a ligand-gated ion channel, which when activated causes fast, depolarizing responses. It is a cation-specific, but otherwise relatively nonselective, ion channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3E sub-subfamily 9606.ENSP00000406052 TDRD5 1035 Tudor domain-containing protein 5; Required during spermiogenesis to participate in the repression transposable elements and prevent their mobilization, which is essential for the germline integrity. Probably acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for chromatoid body (CB) assembly (By similarity); Tudor domain containing 9606.ENSP00000406084 WDR20 600 WD repeat-containing protein 20; Regulator of deubiquitinating complexes. Activates deubiquitinating activity of complexes containing USP12. Anchors at the base of the ubiquitin-contacting loop of USP12 and remotely modulates the catalytic center of the enzyme; WD repeat domain containing 9606.ENSP00000406145 CTXN2 81 Cortexin-2; Cortexin 2 9606.ENSP00000406157 PAPSS2 619 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2; Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate- activation pathway. May have [...] 9606.ENSP00000406162 PRMT1 371 Protein arginine N-methyltransferase 1; Arginine methyltransferase that methylates (mono and asymmetric dimethylation) the guanidino nitrogens of arginyl residues present in proteins such as ESR1, histone H2, H3 and H4, PIAS1, HNRNPA1, HNRNPD, NFATC2IP, SUPT5H, TAF15, EWS, HABP4 and SERBP1. Constitutes the main enzyme that mediates monomethylation and asymmetric dimethylation of histone H4 'Arg-4' (H4R3me1 and H4R3me2a, respectively), a specific tag for epigenetic transcriptional activation. Together with dimethylated PIAS1, represses STAT1 transcriptional activity, in the late phase o [...] 9606.ENSP00000406164 GMNC 334 Geminin coiled-coil domain-containing protein 1; Regulator of DNA replication. Promotes initiation of chromosomal DNA replication by mediating TOPBP1- and CDK2- dependent recruitment of CDC45L onto replication origins (By similarity) 9606.ENSP00000406191 TRPV4 871 Transient receptor potential cation channel subfamily V member 4; Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification. Also activated by heat, low pH, citrate and phorbol esters. Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism. Promotes cell-cell junction formation in skin keratinocytes and plays an important role in th [...] 9606.ENSP00000406197 PAQR8 354 Membrane progestin receptor beta; Plasma membrane progesterone (P4) receptor coupled to G proteins. Seems to act through a G(i) mediated pathway. May be involved in oocyte maturation (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone; Belongs to the ADIPOR family 9606.ENSP00000406201 ZNF160 818 Zinc finger protein 160; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000406209 EPN1 662 Epsin-1; Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis; Belongs to the epsin family 9606.ENSP00000406220 SLC13A5 568 Solute carrier family 13 member 5; High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol; Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily 9606.ENSP00000406229 FAT1 4588 Protocadherin Fat 1; Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact; Cadherin related 9606.ENSP00000406261 ENPP3 875 Ectonucleotide pyrophosphatase/phosphodiesterase family member 3; Cleaves a variety of phosphodiester and phosphosulfate bonds including deoxynucleotides, nucleotide sugars, and NAD; CD molecules 9606.ENSP00000406286 ZBTB7B 573 Zinc finger and BTB domain-containing protein 7B; Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. Development of immature T-cell precursors (thymocytes) to either the CD4 helper or CD8 killer T-cell lineages correlates precisely with their T-cell receptor specificity for major histocompatibility complex class II or class I molecules, respectively. Transcriptional repressor of the collagen COL1A1 and COL1A2 genes. May also function as [...] 9606.ENSP00000406293 TCEA3 348 Transcription elongation factor A protein 3; Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus 9606.ENSP00000406318 ZNF880 577 Zinc finger protein 880; Zinc fingers C2H2-type 9606.ENSP00000406327 COX20 118 Cytochrome c oxidase protein 20 homolog; Mitochondrial respiratory chain complex assembly factors; Belongs to the COX20 family 9606.ENSP00000406367 GPR124 1338 Adhesion G protein-coupled receptor A2; Endothelial receptor which functions as a WNT7-specific coactivator of canonical Wnt signaling (By similarity). Required for normal endothelial cell sprouting and migration in the forebrain and neural tube (By similarity). Has a major role in establishing the blood-brain barrier (By similarity). Binds to the glycosaminoglycans heparin, heparin sulfate, chondroitin sulfate and dermatan sulfate; Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily 9606.ENSP00000406463 DNAJC7 494 DnaJ homolog subfamily C member 7; Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone- substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity); DNAJ heat shock proteins 9606.ENSP00000406472 CDK15 429 Cyclin-dependent kinase 15; Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at 'Thr-34'; Cyclin dependent kinases 9606.ENSP00000406478 LILRB5 591 Leukocyte immunoglobulin-like receptor subfamily B member 5; May act as receptor for class I MHC antigens; CD molecules 9606.ENSP00000406482 THSD7A 1657 Thrombospondin type-1 domain-containing protein 7A; The soluble form promotes endothelial cell migration and filopodia formationduring angiogenesis via a FAK-dependent mechanism 9606.ENSP00000406490 PMS1 932 PMS1 protein homolog 1; Probably involved in the repair of mismatches in DNA 9606.ENSP00000406541 C11orf21 178 Uncharacterized protein C11orf21; Chromosome 11 open reading frame 21 9606.ENSP00000406546 SLC23A3 618 Solute carrier family 23 member 3; Belongs to the xanthine/uracil permease family. Nucleobase:cation symporter-2 (NCS2) (TC 2.A.40) subfamily 9606.ENSP00000406549 TAF1 1895 Transcription initiation factor TFIID subunit 1; Largest component and core scaffold of the TFIID basal transcription factor complex. Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2- mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. Possesses DNA-binding activity. Essential for progression of the G1 phase of the cell cycle. Exhibits histone acetyltransferase activity towards histones H3 and H4; Belongs to the TAF1 family 9606.ENSP00000406577 CKMT1A 417 Creatine kinase U-type, mitochondrial; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa 9606.ENSP00000406581 ENSG00000279765 501 cDNA FLJ53879, highly similar to Chromodomain-helicase-DNA-binding protein 2 (EC 3.6.1.-); DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity) 9606.ENSP00000406598 C4orf27 346 Histone PARylation factor 1; Acts as a cofactor for serine ADP-ribosylation by conferring serine specificity on PARP1 and PARP2: interacts with PARP1 and PARP1 and is able to change amino acid specificity toward serine. Promotes histone serine ADP- ribosylation in response to DNA damage, limiting DNA damage- induced PARP1 hyper-automodification, and ensuring genome stability 9606.ENSP00000406665 RNF224 156 Ring finger protein 224 9606.ENSP00000406674 MOGAT1 335 2-acylglycerol O-acyltransferase 1; Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Probably not involved in absorption of dietary fat in the small intestine (By similarity); Belongs to the diacylglycerol acyltransferase family 9606.ENSP00000406718 C5orf67 127 Uncharacterized protein LOC101928448 9606.ENSP00000406723 GTF2IRD2 949 General transcription factor II-I repeat domain-containing protein 2A; GTF2I repeat domain containing 2 9606.ENSP00000406773 DCD 121 Dermcidin; DCD-1 displays antimicrobial activity thereby limiting skin infection by potential pathogens in the first few hours after bacterial colonization. Highly effective against E.coli, E.faecalis, S.aureus and C.albicans. Optimal pH and salt concentration resemble the conditions in sweat. Also exhibits proteolytic activity, cleaving on the C-terminal side of Arg and, to a lesser extent, Lys residues 9606.ENSP00000406861 MUC6 2439 Mucin-6; May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis; Mucins 9606.ENSP00000406873 ENSG00000259288 681 P21 protein (Cdc42/Rac)-activated kinase 6; Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 s [...] 9606.ENSP00000406885 TMEM41A 264 Transmembrane protein 41A; Belongs to the TMEM41 family 9606.ENSP00000406909 PHOSPHO1 292 Phosphoethanolamine/phosphocholine phosphatase; Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization; HAD Asp-based non-protein phosphatases 9606.ENSP00000406925 C4orf26 176 Odontogenesis associated phosphoprotein; May promote nucleation of hydroxyapatite 9606.ENSP00000406933 NT5DC2 557 5'-nucleotidase domain containing 2 9606.ENSP00000406970 LAX1 398 Lymphocyte transmembrane adapter 1; Negatively regulates TCR (T-cell antigen receptor)- mediated signaling in T-cells and BCR (B-cell antigen receptor)- mediated signaling in B-cells 9606.ENSP00000406986 GPR6 377 G-protein coupled receptor 6; Orphan receptor with constitutive G(s) signaling activity that activate cyclic AMP. Promotes neurite outgrowth and blocks myelin inhibition in neurons (By similarity); G protein-coupled receptors, Class A orphans 9606.ENSP00000407067 FAM86B1 296 Putative protein N-methyltransferase FAM86B1; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000407107 HHLA1 543 HERV-H LTR-associating 1 9606.ENSP00000407112 NAPEPLD 393 N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D; Hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) to produce N-acylethanolamines (NAEs) and phosphatidic acid. Responsible for the generation of anandamide (N- arachidonoylethanolamine), the ligand of cannabinoid and vanilloid receptors (By similarity) 9606.ENSP00000407118 SYBU 663 Syntabulin; Part of a kinesin motor-adapter complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development 9606.ENSP00000407130 ZNF410 516 Zinc finger protein 410; Transcription factor that activates transcription of matrix-remodeling genes such as MMP1 during fibroblast senescence; Zinc fingers C2H2-type 9606.ENSP00000407182 TNPO2 897 Transportin-2; Probably functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hy [...] 9606.ENSP00000407193 ARSG 525 Arylsulfatase G; Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4- methylumbelliferyl sulfate; Sulfatases 9606.ENSP00000407213 IQCA1 830 IQ motif containing with AAA domain 1 9606.ENSP00000407301 FAM198A 575 Protein FAM198A; Family with sequence similarity 198 member A; Belongs to the FAM198 family 9606.ENSP00000407323 EBNA1BP2 361 Probable rRNA-processing protein EBP2; Required for the processing of the 27S pre-rRNA; Belongs to the EBP2 family 9606.ENSP00000407353 LMNTD1 409 Lamin tail domain containing 1 9606.ENSP00000407375 GPX1 203 Glutathione peroxidase 1; Protects the hemoglobin in erythrocytes from oxidative breakdown; Belongs to the glutathione peroxidase family 9606.ENSP00000407422 MUC7 377 Mucin-7; May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. Binds P.aeruginosa pili; Mucins 9606.ENSP00000407487 UNC45A 944 Protein unc-45 homolog A; Acts as co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell proliferation. Necessary for normal myotube formation and myosin accumulation during muscle cell development. May play a role in erythropoiesis in stroma cells in the spleen (By similarity); Armadillo-like helical domain containing 9606.ENSP00000407497 SPINK8 97 Serine protease inhibitor Kazal-type 8; Probable serine protease inhibitor; Serine peptidase inhibitors, Kazal type 9606.ENSP00000407509 PNPLA6 1375 Neuropathy target esterase; Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy; Patatin like phospholipase domain containing 9606.ENSP00000407521 NUTM2E 878 NUT family member 2E; Belongs to the NUT family 9606.ENSP00000407545 ZBTB22 634 Zinc finger and BTB domain-containing protein 22; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000407546 CHRNA7 531 Neuronal acetylcholine receptor subunit alpha-7; After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is blocked by alpha-bungarotoxin; Cholinergic receptors nicotinic subunits 9606.ENSP00000407552 GAS7 476 Growth arrest-specific protein 7; May play a role in promoting maturation and morphological differentiation of cerebellar neurons; F-BAR domain containing 9606.ENSP00000407560 SLC25A44 322 Solute carrier family 25 member 44 9606.ENSP00000407586 HRAS 189 GTPase HRas; Involved in the activation of Ras protein signal transduction. Ras proteins bind GDP/GTP and possess intrinsic GTPase activity; Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000407592 ENSG00000197584 235 Potassium large conductance calcium-activated channel, subfamily M, beta member 2; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons; Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB2 subfamily 9606.ENSP00000407613 METTL6 284 Methyltransferase-like protein 6; Probable methyltransferase 9606.ENSP00000407653 PRR22 422 Proline-rich protein 22; Proline rich 22 9606.ENSP00000407685 TNXB 673 Tenascin-X; Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors; Fibrinogen C domain containing 9606.ENSP00000407726 VWA5A 786 Von Willebrand factor A domain-containing protein 5A; May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis 9606.ENSP00000407761 ACOXL 580 Acyl-coenzyme A oxidase-like protein; acyl-CoA oxidase like; Belongs to the acyl-CoA oxidase family 9606.ENSP00000407763 CCDC122 273 Coiled-coil domain containing 122 9606.ENSP00000407818 USP46 366 Ubiquitin carboxyl-terminal hydrolase 46; Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2; Ubiquitin specific peptidases 9606.ENSP00000407822 CNTN6 1028 Contactin-6; Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity); Belongs to the immunoglobulin superfamily. Contactin family 9606.ENSP00000407978 NKX1-1 411 NK1 transcription factor-related protein 1; NKL subclass homeoboxes and pseudogenes; Belongs to the NK-1 homeobox family 9606.ENSP00000408002 VRK2 508 Serine/threonine-protein kinase VRK2; Serine/threonine kinase that regulates several signal transduction pathways. Isoform 1 modulates the stress response to hypoxia and cytokines, such as interleukin-1 beta (IL1B) and this is dependent on its interaction with MAPK8IP1, which assembles mitogen-activated protein kinase (MAPK) complexes. Inhibition of signal transmission mediated by the assembly of MAPK8IP1-MAPK complexes reduces JNK phosphorylation and JUN-dependent transcription. Phosphorylates 'Thr-18' of p53/TP53, histone H3, and may also phosphorylate MAPK8IP1. Phosphorylates BANF1 [...] 9606.ENSP00000408005 SLC9A3R2 337 Na(+)/H(+) exchange regulatory cofactor NHE-RF2; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May also act as scaffold protein in the nucleus; PDZ domain containing 9606.ENSP00000408025 FBP1 338 Fructose-1,6-bisphosphatase 1; Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating neuropeptides and thus seems to provide a feedback mechanism [...] 9606.ENSP00000408058 METTL11B 283 Alpha N-terminal protein methyltransferase 1B; Alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]- Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and Pro in the Pro-Pro-Lys motif. May activate NTMT1 by priming its substrates for trimethylation 9606.ENSP00000408108 WDR26 661 WD repeat-containing protein 26; G-beta-like protein involved in cell signal transduction. Acts as a negative regulator in MAPK signaling pathway. Functions as a scaffolding protein to promote G beta:gamma- mediated PLCB2 plasma membrane translocation and subsequent activation in leukocytes. Acts as a negative regulator of the canonical Wnt signaling pathway through preventing ubiquitination of beta-catenin CTNNB1 by the beta-catenin destruction complex, thus negatively regulating CTNNB1 degradation. Serves as a scaffold to coordinate PI3K/AKT pathway-driven cell growth and migration. [...] 9606.ENSP00000408132 GOLGA6B 693 Golgin A6 family member B; Belongs to the GOLGA6 family 9606.ENSP00000408146 HLA-DPB1 258 HLA class II histocompatibility antigen, DP beta 1 chain; Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for pr [...] 9606.ENSP00000408204 CT47A9 288 Cancer/testis antigen family 47, member A9 9606.ENSP00000408205 LPAR4 370 Lysophosphatidic acid receptor 4; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The rank order of potency for agonists of this receptor is 1-oleoyl- > 1-stearoyl- > 1-palmitoyl- > 1-myristoyl- > 1- alkyl- > 1-alkenyl-LPA 9606.ENSP00000408236 CYTH2 399 Cytohesin-2; Acts as a guanine-nucleotide exchange factor (GEF). Promotes guanine-nucleotide exchange on ARF1, ARF3 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane. Involved in neurite growth (By similarity); Pleckstrin homology domain containing 9606.ENSP00000408288 PPP1R3E 279 Protein phosphatase 1 regulatory subunit 3E; Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis; Protein phosphatase 1 regulatory subunits 9606.ENSP00000408292 TRIM32 653 E3 ubiquitin-protein ligase TRIM32; Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May ubiquitinate BBS2. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo; Belongs to the TRIM/RBCC family 9606.ENSP00000408295 RFC5 340 Replication factor C subunit 5; The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1; AAA ATPases 9606.ENSP00000408342 PRAM1 670 PML-RARA-regulated adapter molecule 1; May be involved in myeloid differentiation. May be involved in integrin signaling in neutrophils. Binds to PtdIns(4)P 9606.ENSP00000408367 CHTF8 121 Chromosome transmission fidelity protein 8 homolog; Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single- stranded and primed DNAs and has weak ATPase activity that is stimulated the presence of primed DNA, replication protein A (RPA) and proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent lo [...] 9606.ENSP00000408411 LAMP2 411 Lysosome-associated membrane glycoprotein 2; Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live. Functions by binding target proteins, such as GAPDH and MLLT11, and targeting them for lysosomal degradation. Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy. Cells that lack LAMP2 express normal levels o [...] 9606.ENSP00000408429 VWA9 461 Integrator complex subunit 14; Probable component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing; Belongs to the INTS14 family 9606.ENSP00000408511 ENSG00000237847 169 Family with sequence similarity 231, member A 9606.ENSP00000408526 IMPA1 336 Inositol monophosphatase 1; Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Has broad substrate specificity and can use myo- inositol monophosphates, myo-inositol 1,3-diphosphate, myo- inositol 1,4-diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1- phosphate, beta-glycerophosphate, and 2'-AMP as substrates 9606.ENSP00000408527 C2orf61 248 Protein STPG4; Maternal factor that plays a role in epigenetic chromatin reprogramming during early development of the zygote. Involved in the regulation of gametic DNA demethylation by inducing the conversion of the modified genomic base 5- methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) 9606.ENSP00000408576 LARS2 903 Probable leucine--tRNA ligase, mitochondrial; leucyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000408581 TMEM132D 1099 Transmembrane protein 132D; May serve as a cell-surface marker for oligodendrocyte differentiation; Protein phosphatase 1 regulatory subunits 9606.ENSP00000408598 PABPN1L 278 Embryonic polyadenylate-binding protein 2; Binds the poly(A) tail of mRNA; RNA binding motif containing 9606.ENSP00000408617 HDAC9 1069 Histone deacetylase 9; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription; Belongs to the histone deacetylase family. HD type 2 subfamily 9606.ENSP00000408695 PRKCA 672 Protein kinase C alpha type; Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation and cell growth arrest by positive and negative regulation of the cell [...] 9606.ENSP00000408697 NUGGC 796 Nuclear GTPase SLIP-GC; Nuclear GTPase found in germinal center B-cells, where it may inhibit function of the activation-induced cytidine deaminase AICDA. Reduces somatic hypermutation in B-cells which may enhance genome stability (By similarity) 9606.ENSP00000408792 SP8 508 Transcription factor Sp8; Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity); Sp transcription factors 9606.ENSP00000408860 CYP21A2 495 Steroid 21-hydroxylase; Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids; Cytochrome P450 family 21 9606.ENSP00000408910 DCTN2 406 Dynactin subunit 2; Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development; Dynactin 9606.ENSP00000408979 KIF5A 1032 Kinesin heavy chain isoform 5A; Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily 9606.ENSP00000409000 IFNL3 196 Interferon lambda-3; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN- stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type- s [...] 9606.ENSP00000409007 GDNF 228 Glial cell line-derived neurotrophic factor; Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake; Belongs to the TGF-beta family. GDNF subfamily 9606.ENSP00000409016 TBRG1 411 Transforming growth factor beta regulator 1; Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability; Belongs to the TBRG1 family 9606.ENSP00000409107 ZBTB42 422 Zinc finger and BTB domain-containing protein 42; Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes; BTB domain containing 9606.ENSP00000409126 ANO6 931 Anoctamin-6; Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chlorid [...] 9606.ENSP00000409131 WSB2 421 WD repeat and SOCS box-containing protein 2; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; WD repeat domain containing 9606.ENSP00000409171 PLXNB2 1838 Plexin-B2; Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signaling. Binding to class 4 semaphorins promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Required for normal differentiation and migration of neuronal cells during brain corticogenesis and for normal embryonic brain development. Regulates the migration of cerebellar granule cells in the developing brain. Plays a role in RHOA activation and subsequent changes of the actin cytoskeleton. Plays a role in axon guidance, invasive growth and cell migrati [...] 9606.ENSP00000409225 C10orf55 151 Uncharacterized protein C10orf55; Chromosome 10 open reading frame 55 9606.ENSP00000409231 TRAPPC13 418 Trafficking protein particle complex 13 9606.ENSP00000409279 OTUD4 1049 OTU domain-containing protein 4; Deubiquitinating enzyme that specifically hydrolyzes 'Lys-48'-linked polyubiquitin; OTU domain containing 9606.ENSP00000409315 RBM18 190 Probable RNA-binding protein 18; RNA binding motif containing 9606.ENSP00000409316 OR4F29 312 Olfactory receptor 4F3/4F16/4F29; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000409318 ZNF230 474 Zinc finger protein 230; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000409346 CISH 275 Cytokine-inducible SH2-containing protein; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by suppressing its tyrosine phosphorylation. May be a substrate- recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteas [...] 9606.ENSP00000409378 CHRM4 479 Muscarinic acetylcholine receptor M4; The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is inhibition of adenylate cyclase; Cholinergic receptors muscarinic 9606.ENSP00000409382 CRACR2A 731 EF-hand calcium-binding domain-containing protein 4B; Ca(2+)-binding protein that plays a key role in store- operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca(2+) concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca(2+) resulting from opening of CRAC channels, dissociates from OR [...] 9606.ENSP00000409423 FAM47E 393 Protein FAM47E; Family with sequence similarity 47 member E 9606.ENSP00000409463 ZNF740 193 Zinc finger protein 740; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000409542 LOC388849 402 Coiled-coil domain-containing protein 188; Uncharacterized protein LOC388849 9606.ENSP00000409544 CLDN4 209 Claudin-4; Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity 9606.ENSP00000409555 HERPUD1 391 Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein; Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway 9606.ENSP00000409581 ARRB1 418 Beta-arrestin-1; Functions in regulating agonist-mediated G-protein coupled receptor (GPCR) signaling by mediating both receptor desensitization and resensitization processes. During homologous desensitization, beta-arrestins bind to the GPRK-phosphorylated receptor and sterically preclude its coupling to the cognate G- protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalization by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and rec [...] 9606.ENSP00000409652 ZNF766 468 Zinc finger protein 766; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000409666 SUMO3 141 Small ubiquitin-like modifier 3 9606.ENSP00000409667 SYNJ1 1612 Synaptojanin-1; Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity); Belongs to the synaptojanin family 9606.ENSP00000409738 TMBIM1 311 Protein lifeguard 3; Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling; Transmembrane BAX inhibitor motif containing 9606.ENSP00000409799 RPP21 162 Ribonuclease P protein subunit p21; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends; Belongs to the eukaryotic/archaeal RNase P protein component 4 family 9606.ENSP00000409832 GAGE12J 117 G antigen 12J 9606.ENSP00000409896 CCNB1IP1 277 E3 ubiquitin-protein ligase CCNB1IP1; Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL- gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates [...] 9606.ENSP00000409906 USP53 1073 Inactive ubiquitin carboxyl-terminal hydrolase 53; Tight junction-associated protein that is involved in the survival of auditory hair cells and hearing. Maybe by modulating the barrier properties and mechanical stability of tight junctions (By similarity). Has no peptidase activity; Ubiquitin specific peptidases 9606.ENSP00000409924 ENSG00000108825 586 PTGES3L-AARSD1 readthrough; Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) 9606.ENSP00000409937 ALS2CR11 1820 C2 calcium-dependent domain-containing protein 6; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 9606.ENSP00000409952 VPS52 723 Vacuolar protein sorting-associated protein 52 homolog; Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized tr [...] 9606.ENSP00000409964 CFAP97 532 Cilia and flagella associated protein 97 9606.ENSP00000410007 FBXO46 603 F-box only protein 46; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000410024 PHGR1 82 Proline, histidine and glycine rich 1 9606.ENSP00000410041 SKIDA1 908 SKI/DACH domain containing 1 9606.ENSP00000410059 EEF1D 647 Elongation factor 1-delta; Isoform 1: EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1- alpha for another round of transfer of aminoacyl-tRNAs to the ribosome; Belongs to the EF-1-beta/EF-1-delta family 9606.ENSP00000410083 VEZT 779 Vezatin; Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site; Belongs to the vezatin family 9606.ENSP00000410111 TBC1D26 250 TBC1 domain family member 26; May act as a GTPase-activating protein for Rab family protein(s); Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000410157 ABTB2 1025 Ankyrin repeat and BTB/POZ domain-containing protein 2; May be involved in the initiation of hepatocyte growth; Ankyrin repeat domain containing 9606.ENSP00000410186 AK9 1911 Adenylate kinase 9; Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has both nucleoside monophosphate and diphosphate kinase activities. Catalyzes the phosphorylation of AMP, dAMP, CMP and dCMP with ATP as phosphate donor and of CMP with GTP as phosphate donor. Also catalyzes the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and TTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor. Shows substrate preference of CDP > UDP > ADP > GDP > TDP; Belongs to the adenylate kin [...] 9606.ENSP00000410198 ZSCAN2 614 Zinc finger and SCAN domain-containing protein 2; May be involved in transcriptional regulation during the post-meiotic stages of spermatogenesis; SCAN domain containing 9606.ENSP00000410216 POC5 575 Centrosomal protein POC5; Essential for the assembly of the distal half of centrioles, required for centriole elongation; Belongs to the POC5 family 9606.ENSP00000410257 SCN5A 2016 Sodium channel protein type 5 subunit alpha; This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels; Sodium voltage-gated channe [...] 9606.ENSP00000410269 TMEM176B 270 Transmembrane protein 176B; May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity); Membrane spanning 4-domains 9606.ENSP00000410294 FGFR2 822 Fibroblast growth factor receptor 2; Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell p [...] 9606.ENSP00000410309 PDE1A 545 Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A; Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a higher affinity for cGMP than for cAMP; Phosphodiesterases 9606.ENSP00000410339 TOMM40 361 Mitochondrial import receptor subunit TOM40 homolog; Channel-forming protein essential for import of protein precursors into mitochondria; Belongs to the Tom40 family 9606.ENSP00000410396 CMSS1 279 Protein CMSS1; Cms1 ribosomal small subunit homolog 9606.ENSP00000410400 CT47A11 288 Cancer/testis antigen family 47, member A11 9606.ENSP00000410402 MAP2K4 410 Dual specificity mitogen-activated protein kinase kinase 4; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylati [...] 9606.ENSP00000410409 TAF1D 278 TATA box-binding protein-associated factor RNA polymerase I subunit D; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits 9606.ENSP00000410446 TRIM26 539 Tripartite motif-containing protein 26; E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA- encoded pattern-recognition receptors (PRRs). Promotes nuclear IRF3 ubiquitination and proteasomal degradation. Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1; Belongs to the TRIM/RBCC family 9606.ENSP00000410452 STMN1 174 Stathmin; Involved in the regulation of the microtubule (MT) filament system by destabilizing microtubules. Prevents assembly and promotes disassembly of microtubules. Phosphorylation at Ser- 16 may be required for axon formation during neurogenesis. Involved in the control of the learned and innate fear (By similarity); Belongs to the stathmin family 9606.ENSP00000410466 ZNF90 601 Zinc finger protein 90; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000410470 FAHD2B 314 Fumarylacetoacetate hydrolase domain-containing protein 2B; May have hydrolase activity 9606.ENSP00000410481 LTB 244 Lymphotoxin-beta; Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. Isoform 2 is probably non-functional; Tumor necrosis factor superfamily 9606.ENSP00000410533 RNF223 249 Ring finger protein 223 9606.ENSP00000410545 ZNF814 855 Zinc finger protein 814; Zinc fingers C2H2-type 9606.ENSP00000410561 CDK3 305 Cyclin-dependent kinase 3; Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0- G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E2F3 in a RB1 [...] 9606.ENSP00000410584 CELF4 486 CUGBP Elav-like family member 4; RNA-binding protein implicated in the regulation of pre- mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic site [...] 9606.ENSP00000410603 FAM131B 360 Protein FAM131B; Family with sequence similarity 131 member B; Belongs to the FAM131 family 9606.ENSP00000410689 AFAP1 814 Actin filament-associated protein 1; Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells; Pleckstrin homology domain containing 9606.ENSP00000410715 SFRP4 346 Secreted frizzled-related protein 4; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake 9606.ENSP00000410732 GABRG2 515 Gamma-aminobutyric acid receptor subunit gamma-2; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily 9606.ENSP00000410734 ZNF562 426 Zinc finger protein 562; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000410758 LSM5 91 U6 snRNA-associated Sm-like protein LSm5; Plays a role in U6 snRNP assembly and function. Binds to the 3' end of U6 snRNA, thereby facilitating formation of the spliceosomal U4/U6 duplex formation in vitro; LSm proteins 9606.ENSP00000410759 ATXN7L1 861 Ataxin-7-like protein 1; Ataxin 7 like 1 9606.ENSP00000410764 ENSG00000272752 227 Paired immunoglobulin-like type 2 receptor beta; Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface 9606.ENSP00000410768 FAM135A 1515 Protein FAM135A; Family with sequence similarity 135 member A; Belongs to the FAM135 family 9606.ENSP00000410769 CNBP 179 Cellular nucleic acid-binding protein; Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression; Ring finger proteins 9606.ENSP00000410804 PNPLA8 782 Calcium-independent phospholipase A2-gamma; Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids; Patatin like phospholipase domain containing 9606.ENSP00000410811 FIGNL1 674 Fidgetin-like protein 1; Involved in DNA double-strand break (DBS) repair via homologous recombination (HR). Recruited at DSB sites independently of BRCA2, RAD51 and RAD51 paralogs in a H2AX- dependent manner. May regulate osteoblast proliferation and differentiation. May play a role in the control of male meiosis dynamic (By similarity); Belongs to the AAA ATPase family 9606.ENSP00000410815 ENSG00000244255 1266 Complement factor B; Uncharacterized protein; cDNA FLJ55673, highly similar to Complement factor B ; Belongs to the peptidase S1 family 9606.ENSP00000410818 MAD2L1BP 306 MAD2L1-binding protein; May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex; Belongs to the MAD2L1BP family 9606.ENSP00000410833 GBE1 702 1,4-alpha-glucan-branching enzyme; Required for normal glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable); Belongs to the glycosyl hydrolase 13 family. GlgB subfamily 9606.ENSP00000410852 TMEM132C 1108 Transmembrane protein 132C; Protein phosphatase 1 regulatory subunits 9606.ENSP00000410858 NHLRC4 123 NHL-repeat-containing protein 4; NHL repeat containing 4 9606.ENSP00000410862 RUNDC3A 446 RUN domain-containing protein 3A; May act as an effector of RAP2A in neuronal cells; Belongs to the RUNDC3 family 9606.ENSP00000410890 ZNF783 546 Protein ZNF783; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000410910 MUSTN1 82 Musculoskeletal embryonic nuclear protein 1; May be involved in the development and regeneration of the musculoskeletal system 9606.ENSP00000410926 LMLN 692 Leishmanolysin-like peptidase; Metalloprotease essential for the coordination of mitotic progression, and also plays a role in cell migration 9606.ENSP00000410943 TSPYL4 414 Testis-specific Y-encoded-like protein 4; TSPY like 4 9606.ENSP00000410964 ERLIN1 348 Erlin-1; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex; Belongs to the band 7/mec-2 family 9606.ENSP00000411004 XG 195 Glycoprotein Xg; Pseudoautosomal region 1; Belongs to the CD99 family 9606.ENSP00000411010 DNTTIP2 756 Deoxynucleotidyltransferase terminal-interacting protein 2; Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein 9606.ENSP00000411012 NSMAF 948 Protein FAN; Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N- smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE; BEACH domain containing 9606.ENSP00000411032 ZNF284 593 Zinc finger protein 284; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000411070 LCE6A 80 Late cornified envelope protein 6A; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000411073 BCL7B 213 B-cell CLL/lymphoma 7 protein family member B; Positive regulator of apoptosis. Plays a role in the Wnt signaling pathway, negatively regulating the expression of Wnt signaling components CTNNB1 and HMGA1. Involved in cell cycle progression, maintenance of the nuclear structure and stem cell differentiation. May play a role in lung tumor development or progression (By similarity); Belongs to the BCL7 family 9606.ENSP00000411084 ZNF799 643 Zinc finger protein 799; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000411096 ABCA13 5058 ATP binding cassette subfamily A member 13 9606.ENSP00000411099 TLK1 766 Serine/threonine-protein kinase tousled-like 1; Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S- phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10' 9606.ENSP00000411112 C17orf112 114 Uncharacterized protein C17orf112; Chromosome 17 open reading frame 112 9606.ENSP00000411124 BEGAIN 593 Brain-enriched guanylate kinase-associated protein; May sustain the structure of the postsynaptic density (PSD) 9606.ENSP00000411132 ZNF619 616 Zinc finger protein 619; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000411140 NPIPB15 443 Nuclear pore complex interacting protein family member B15 9606.ENSP00000411145 FEZF1 475 Fez family zinc finger protein 1; Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity); Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000411152 ITPKB 946 Inositol-trisphosphate 3-kinase B 9606.ENSP00000411197 TBC1D9 1266 TBC1 domain family member 9; May act as a GTPase-activating protein for Rab family protein(s); EF-hand domain containing 9606.ENSP00000411198 KRTAP4-16P 235 Keratin associated protein 4-16, pseudogene 9606.ENSP00000411250 NBR1 966 Next to BRCA1 gene 1 protein; Acts probably as a receptor for selective autophagosomal degradation of ubiquitinated targets; Zinc fingers ZZ-type 9606.ENSP00000411253 TBCCD1 557 TBCC domain-containing protein 1; Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration 9606.ENSP00000411268 BEND3 828 BEN domain-containing protein 3; Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by controlling its USP21-mediated deubiquitination. Binds to unmethylated major satellite DNA and is involved in the recruitment of the Polycomb repressive complex 2 (PRC2) to major satellites (By similarity). Stimulates the ERCC6L translocase and ATPase activities; BEN domain containing 9606.ENSP00000411355 PTPRC 1306 Receptor-type tyrosine-protein phosphatase C; Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity); Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily 9606.ENSP00000411372 FAM200A 573 Protein FAM200A; Family with sequence similarity 200 member A; Belongs to the FAM200 family 9606.ENSP00000411397 MARK3 753 MAP/microtubule affinity-regulating kinase 3; Involved in the specific phosphorylation of microtubule- associated proteins for tau, MAP2 and MAP4. Phosphorylates CDC25C on 'Ser-216'. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 9606.ENSP00000411409 ZNF598 904 E3 ubiquitin-protein ligase ZNF598; E3 ubiquitin-protein ligase that plays a key role in the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation. Required for ribosomes to terminally stall during translation of poly(A) sequences by mediating monoubiquitination of 40S ribosomal protein RPS10/eS10, RPS20/uS10 and RPS3/uS3. Stalling precludes synthesis of a long poly-lysine tail and initiates the RQC pathway to degrade the potentially detrimental aberrant nascent polypeptide. Also acts as a component of the 4EHP-GYF2 complex, a multipr [...] 9606.ENSP00000411418 RAB3GAP1 988 Rab3 GTPase-activating protein catalytic subunit; Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters 9606.ENSP00000411439 PATE4 98 Prostate and testis expressed protein 4; May modulate the function of nicotinic acetylcholine receptors. May enhance sperm motility; LY6/PLAUR domain containing 9606.ENSP00000411471 ABCF3 709 ATP-binding cassette sub-family F member 3; Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B; ATP binding cassette subfamily F 9606.ENSP00000411506 FAM153A 310 Protein FAM153A; Family with sequence similarity 153 member A; Belongs to the FAM153 family 9606.ENSP00000411528 GJC1 396 Gap junction gamma-1 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Gamma-type subfamily 9606.ENSP00000411532 TOP2A 1531 DNA topoisomerase 2-alpha; Control of topological states of DNA by transient breakage and subsequent rejoining of DNA strands. Topoisomerase II makes double-strand breaks. Essential during mitosis and meiosis for proper segregation of daughter chromosomes. May play a role in regulating the period length of ARNTL/BMAL1 transcriptional oscillation (By similarity); Topoisomerases 9606.ENSP00000411565 DHRS12 317 Dehydrogenase/reductase SDR family member 12; Putative oxidoreductase; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000411584 MSANTD1 278 Myb/SANT-like DNA-binding domain-containing protein 1; Myb/SANT DNA binding domain containing 1 9606.ENSP00000411593 GLRA1 457 Glycine receptor subunit alpha-1; Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine. Channel characteristics depend on the subunit composition; heteropentameric channels are activated by lower glycine levels and display faster desensitization. Plays an important role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. Channel activity is potentiated by ethanol. Potentiation of channel activity by intoxic [...] 9606.ENSP00000411613 AOC1 770 Amiloride-sensitive amine oxidase [copper-containing]; Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function; Belongs to the copper/topaquinone oxidase family 9606.ENSP00000411672 ATP6V0E2 213 ATPase H+ transporting V0 subunit e2; V-type ATPases 9606.ENSP00000411770 COLEC11 285 Collectin-11; Lectin that binds to various sugars including fucose and mannose. Has a higher affinity for fucose compared to mannose. Does not bind to glucose, N-acetylglucosamine and N- acetylgalactosamine. Also binds lipopolysaccharides (LPS). Involved in fundamental development serving as a guidance cue for neural crest cell migration (By similarity); C-type lectin domain containing 9606.ENSP00000411788 GPR35 340 G-protein coupled receptor 35; Acts as a receptor for kynurenic acid, an intermediate in the tryptophan metabolic pathway. The activity of this receptor is mediated by G-proteins that elicit calcium mobilization and inositol phosphate production through G(qi/o) proteins 9606.ENSP00000411816 CSGALNACT1 532 Chondroitin sulfate N-acetylgalactosaminyltransferase 1; Transfers 1,4-N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of glucuronic acid (GlcUA). Required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains. Important role in chondroitin chain biosynthesis in cartilage formation and subsequent endochondral ossification. Moreover, is involved in the metabolism of aggrecan (By similarity) 9606.ENSP00000411821 ALDH3A1 453 Aldehyde dehydrogenase, dimeric NADP-preferring; ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long chain aldehydes into non-toxic fatty acids. Preferentially oxidizes aromatic aldehyde substrates. Comprises about 50 percent of corneal epithelial soluble proteins (By similarity). May play a role in preventing corneal damage caused by ultraviolet light (By similarity) 9606.ENSP00000411822 ISY1-RAB43 331 Pre-mRNA-splicing factor ISY1 homolog; May play a role in pre-mRNA splicing 9606.ENSP00000411825 PDCD6IP 873 Programmed cell death 6-interacting protein; Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires [...] 9606.ENSP00000411827 GPR137 475 Integral membrane protein GPR137; G protein-coupled receptor 137; Belongs to the GPR137 family 9606.ENSP00000411831 KIF21B 1637 Kinesin-like protein KIF21B; Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma- aminobutyric acid (GABA(A)) receptor to cell surface; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family 9606.ENSP00000411848 MARCH8 573 E3 ubiquitin-protein ligase MARCH8; E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS; Membrane associated ring-CH-type fingers 9606.ENSP00000411850 C10orf131 176 Protein CC2D2B; Chromosome 10 open reading frame 131 9606.ENSP00000411898 EPGN 154 Epigen; Promotes the growth of epithelial cells. May stimulate the phosphorylation of EGFR and mitogen-activated protein kinases 9606.ENSP00000411909 CT47A10 288 Cancer/testis antigen family 47, member A10 9606.ENSP00000411932 LMOD2 547 Leiomodin-2; Mediates nucleation of actin filaments and thereby promotes actin polymerization. Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function 9606.ENSP00000411940 IFNA17 189 Interferon alpha-17; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000411948 SAPCD1 178 Suppressor APC domain containing 1 9606.ENSP00000412064 PRR13 148 Proline-rich protein 13; Negatively regulates TSP1 expression at the level of transcription. This down-regulation was shown to reduce taxane- induced apoptosis 9606.ENSP00000412130 MRVI1 912 Protein MRVI1; Plays a role as NO/PRKG1-dependent regulator of IP3- induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation 9606.ENSP00000412150 CCDC121 440 Coiled-coil domain containing 121 9606.ENSP00000412178 DGKZ 1117 Diacylglycerol kinase zeta; Displays a strong preference for 1,2-diacylglycerols over 1,3-diacylglycerols, but lacks substrate specificity among molecular species of long chain diacylglycerols. Isoform 2 but not isoform 1 regulates RASGRP1 activity; Belongs to the eukaryotic diacylglycerol kinase family 9606.ENSP00000412189 PGAM4 254 Phosphoglycerate mutase family member 4; Bisphosphoglycerate phosphatases 9606.ENSP00000412209 IL5RA 420 Interleukin-5 receptor subunit alpha; This is the receptor for interleukin-5. The alpha chain binds to IL5; Belongs to the type I cytokine receptor family. Type 5 subfamily 9606.ENSP00000412215 C4orf45 186 Uncharacterized protein C4orf45; Chromosome 4 open reading frame 45 9606.ENSP00000412237 IL10 178 Interleukin-10; Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells; Belongs to the IL-10 family 9606.ENSP00000412292 DEPDC1 811 DEP domain-containing protein 1A; May be involved in transcriptional regulation as a transcriptional corepressor. The DEPDC1A-ZNF224 complex may play a critical role in bladder carcinogenesis by repressing the transcription of the A20 gene, leading to transport of NF-KB protein into the nucleus, resulting in suppression of apoptosis of bladder cancer cells 9606.ENSP00000412302 MBD3 291 Methyl-CpG-binding domain protein 3; Acts as transcriptional repressor and plays a role in gene silencing. Does not bind to DNA by itself. Binds to DNA with a preference for sites containing methylated CpG dinucleotides (in vitro). Binds to a lesser degree DNA containing unmethylated CpG dinucleotides. Recruits histone deacetylases and DNA methyltransferases; Methyl-CpG binding domain containing 9606.ENSP00000412324 PPP2R5C 555 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage- induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signaling pathway through ERK dephosphorylation 9606.ENSP00000412326 ARPP21 813 cAMP-regulated phosphoprotein 21; Isoform 2 may act as a competitive inhibitor of calmodulin-dependent enzymes such as calcineurin in neurons 9606.ENSP00000412361 SIGLEC11 698 Sialic acid-binding Ig-like lectin 11; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,8- linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules; C2-set domain containing 9606.ENSP00000412363 ZNF438 828 Zinc finger protein 438; Isoform 1 acts as a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000412365 CDKL2 493 Cyclin-dependent kinase-like 2; Cyclin dependent kinase like 2; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily 9606.ENSP00000412388 C9orf172 976 Uncharacterized protein C9orf172; Chromosome 9 open reading frame 172 9606.ENSP00000412457 ENSG00000248993 175 HLA class II histocompatibility antigen, DM beta chain 9606.ENSP00000412461 ARHGAP22 714 Rho GTPase-activating protein 22; Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity); Pleckstrin homology domain containing 9606.ENSP00000412524 TMEM169 297 Transmembrane protein 169 9606.ENSP00000412566 SNRPB 240 Small nuclear ribonucleoprotein-associated proteins B and B; Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3'-end processing 9606.ENSP00000412673 GABRR1 479 Gamma-aminobutyric acid receptor subunit rho-1; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Rho-1 GABA receptor could play a role in retinal neurotransmission; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000412698 MMS19 1030 MMS19 nucleotide excision repair protein homolog; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER) and RNA polymerase II (POL II) transcription. As part of the mitotic spindle [...] 9606.ENSP00000412724 FAM115C 845 TRPM8 channel-associated factor 2; Isoform 2: Negatively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration stimulation in a TRPM8-dependent manner 9606.ENSP00000412733 OSBPL9 746 Oxysterol-binding protein-related protein 9; Pleckstrin homology domain containing; Belongs to the OSBP family 9606.ENSP00000412752 OR4A47 309 Olfactory receptor 4A47; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000412763 MALRD1 2156 MAM and LDL-receptor class A domain-containing protein 1; Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis 9606.ENSP00000412869 IKZF2 526 Zinc finger protein Helios; Associates with Ikaros at centromeric heterochromatin; Zinc fingers C2H2-type 9606.ENSP00000412886 CAMTA2 1241 Calmodulin-binding transcription activator 2; Transcription activator. May act as tumor suppressor; Belongs to the CAMTA family 9606.ENSP00000412894 RPP14 124 Ribonuclease P protein subunit p14; Part of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends 9606.ENSP00000412897 IFNA4 189 Interferon alpha-4; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Belongs to the alpha/beta interferon family 9606.ENSP00000412922 URM1 146 Ubiquitin-related modifier 1; Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln). Serves as sulfur donor in tRNA 2- thiolation reaction by being thiocarboxylated (-COSH) at its C- terminus by MOCS3. The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U. Also acts as a ubiquitin-like protein (UBL) that is covalently conjugated via an isopeptide bond to lysine residues of target proteins such as MOCS3, ATPBD3, CTU2, USP15 and CAS. The thiocarboxylated form serves as substrate for [...] 9606.ENSP00000412927 HLA-G 338 HLA class I histocompatibility antigen, alpha chain G; Involved in the presentation of foreign antigens to the immune system. Plays a role in maternal tolerance of the fetus by mediating protection from the deleterious effects of natural killer cells, cytotoxic T-lymphocytes, macrophages and mononuclear cells; Belongs to the MHC class I family 9606.ENSP00000412940 FREM1 2179 FRAS1-related extracellular matrix protein 1; Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development; Belongs to the FRAS1 family 9606.ENSP00000412957 BIRC8 236 Baculoviral IAP repeat-containing protein 8; Protects against apoptosis mediated by BAX; Belongs to the IAP family 9606.ENSP00000412999 ZNF805 627 Zinc finger protein 805; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000413001 AGBL1 1066 Cytosolic carboxypeptidase 4; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5; Armadillo-like helical domain containing 9606.ENSP00000413017 CCDC28B 241 Coiled-coil domain-containing protein 28B; Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex 9606.ENSP00000413029 C7orf25 479 UPF0415 protein C7orf25; Chromosome 7 open reading frame 25; Belongs to the UPF0415 family 9606.ENSP00000413035 RBFOX2 451 RNA binding protein fox-1 homolog 2; RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Prevents binding of U2AF2 to the 3'-splice site. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (By similarity). RNA-binding protein that seems to act as a coregulatory factor of ER-alpha 9606.ENSP00000413049 SLC25A48 157 Solute carrier family 25 member 48 9606.ENSP00000413064 NAT8L 302 N-acetylaspartate synthetase; Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake; Belongs to the camello family 9606.ENSP00000413073 ZNF445 1031 Zinc finger protein 445; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000413079 MICA 332 MHC class I polypeptide-related sequence A; Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T- cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis; Belongs to the MHC class I family. MIC subfamily 9606.ENSP00000413098 SCAF8 1349 Protein SCAF8; May play a role in mRNA processing; RNA binding motif containing 9606.ENSP00000413100 C16orf91 132 Protein CCSMST1; Chromosome 16 open reading frame 91 9606.ENSP00000413150 C1orf226 315 Uncharacterized protein C1orf226; Chromosome 1 open reading frame 226 9606.ENSP00000413152 FKBP7 222 Peptidylprolyl isomerase; EF-hand domain containing 9606.ENSP00000413156 RAB34 268 Ras-related protein Rab-34; Protein transport. Involved in the redistribution of lysosomes to the peri-Golgi region (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes; RAB, member RAS oncogene GTPases 9606.ENSP00000413163 TMEM130 435 Transmembrane protein 130 9606.ENSP00000413196 FAM160A1 1040 Protein FAM160A1; Family with sequence similarity 160 member A1; Belongs to the UPF0518 family 9606.ENSP00000413218 FAM213B 246 Prostamide/prostaglandin F synthase; Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity); Belongs to the peroxiredoxin-like FAM213 family. Prostamide/prostaglandin F synthase subfamily 9606.ENSP00000413228 C3orf55 135 Putative uncharacterized protein PQLC2L; Chromosome 3 open reading frame 55 9606.ENSP00000413405 PIGZ 579 GPI mannosyltransferase 4; Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues; Belongs to the glycosyltransferase 22 family. PIGZ subfamily 9606.ENSP00000413411 ZNF724P 619 Zinc finger protein 724; May be involved in transcriptional regulation 9606.ENSP00000413418 ZFHX2 2572 Zinc finger homeobox protein 2; May be involved in transcriptional regulation; ZF class homeoboxes and pseudogenes 9606.ENSP00000413436 RPL10 214 60S ribosomal protein L10; Component of the large ribosomal subunit. Plays a role in the formation of actively translating ribosomes. May play a role in the embryonic brain development 9606.ENSP00000413445 KIAA1324L 1029 UPF0577 protein KIAA1324-like; KIAA1324 like; Belongs to the UPF0577 family 9606.ENSP00000413479 KRT3 628 Keratin, type II cytoskeletal 3; Keratins, type II 9606.ENSP00000413496 FGF12 243 Fibroblast growth factor 12; Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation 9606.ENSP00000413520 HID1 788 Protein HID1; May play an important role in the development of cancers in a broad range of tissues 9606.ENSP00000413537 APRG1 170 AP20 region protein 1; Chromosome 3 open reading frame 35 9606.ENSP00000413572 NLE1 485 Notchless protein homolog 1; Plays a role in regulating Notch activity. Plays a role in regulating the expression of CDKN1A and several members of the Wnt pathway, probably via its effects on Notch activity. Required during embryogenesis for inner mass cell survival (By similarity); Belongs to the NLE1/RSA4 family 9606.ENSP00000413575 CROT 640 Peroxisomal carnitine O-octanoyltransferase; Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Converts the end product of pristanic acid beta oxidation, 4,8-dimethylnonanoyl- CoA, to its corresponding carnitine ester; Belongs to the carnitine/choline acetyltransferase family 9606.ENSP00000413592 RFESD 210 Rieske domain-containing protein; Rieske Fe-S domain containing 9606.ENSP00000413606 STXBP2 604 Syntaxin-binding protein 2; Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells 9606.ENSP00000413625 FNBP1 617 Formin-binding protein 1; May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane [...] 9606.ENSP00000413632 MCMDC2 681 Minichromosome maintenance domain-containing protein 2; Plays an important role in meiotic recombination and associated DNA double-strand break repair; MCM family 9606.ENSP00000413660 ZNF492 531 Zinc finger protein 492; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000413697 TOM1 493 Target of Myb protein 1; May be involved in intracellular trafficking. Probable association with membranes; Belongs to the TOM1 family 9606.ENSP00000413707 LRRC15 587 Leucine-rich repeat-containing protein 15; Leucine rich repeat containing 15 9606.ENSP00000413720 CDKN1C 316 Cyclin-dependent kinase inhibitor 1C; Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non- proliferative state throughout life; Belongs to the CDI family 9606.ENSP00000413728 C12orf71 269 Uncharacterized protein C12orf71; Chromosome 12 open reading frame 71 9606.ENSP00000413861 SIGLEC9 479 Sialic acid-binding Ig-like lectin 9; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface; CD molecules 9606.ENSP00000413896 FAM25BP 89 Family with sequence similarity 25 member B, pseudogene 9606.ENSP00000413908 BCS1L 419 Mitochondrial chaperone BCS1; Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex; AAA ATPases 9606.ENSP00000413929 RCOR3 553 REST corepressor 3; May act as a component of a corepressor complex that represses transcription; Belongs to the CoREST family 9606.ENSP00000413937 INPP5K 448 Inositol polyphosphate 5-phosphatase K; Inositol 5-phosphatase which acts on inositol 1,4,5- trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5- trisphosphate. Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity) 9606.ENSP00000414019 GDPD2 590 Glycerophosphoinositol inositolphosphodiesterase GDPD2; Has glycerophosphoinositol inositolphosphodiesterase activity and specifically hydrolyzes glycerophosphoinositol, with no activity for other substrates such as glycerophosphoinositol 4- phosphate, glycerophosphocholine, glycerophosphoethanolamine, and glycerophosphoserine. Accelerates the program of osteoblast differentiation and growth. May play a role in remodeling of the actin cytoskeleton (By similarity) 9606.ENSP00000414022 PERM1 790 PGC-1 and ERR-induced regulator in muscle protein 1; Regulates the expression of selective PPARGC1A/B and ESRRA/B/G target genes with roles in glucose and lipid metabolism, energy transfer, contractile function, muscle mitochondrial biogenesis and oxidative capacity. Required for the efficient induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4 9606.ENSP00000414034 PRR26 221 Proline-rich protein 26; Proline rich 26 9606.ENSP00000414055 NRBP2 501 Nuclear receptor-binding protein 2; May regulate apoptosis of neural progenitor cells during their differentiation; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000414066 ACN9 125 Succinate dehydrogenase assembly factor 3, mitochondrial; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF1 9606.ENSP00000414068 ENSG00000255835 359 Uncharacterized protein 9606.ENSP00000414109 HJURP 748 Holliday junction recognition protein; Centromeric protein that plays a central role in the incorporation and maintenance of histone H3-like variant CENPA at centromeres. Acts as a specific chaperone for CENPA and is required for the incorporation of newly synthesized CENPA molecules into nucleosomes at replicated centromeres. Prevents CENPA-H4 tetramerization and prevents premature DNA binding by the CENPA-H4 tetramer. Directly binds Holliday junctions 9606.ENSP00000414147 SPG20 666 Spartin; May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis 9606.ENSP00000414150 ERG 486 Transcriptional regulator ERG; Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure; ETS transcription factor family 9606.ENSP00000414202 PPP6R1 881 Serine/threonine-protein phosphatase 6 regulatory subunit 1; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6- mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha 9606.ENSP00000414236 HSBP1L1 74 Heat shock factor binding protein 1 like 1; Belongs to the HSBP1 family 9606.ENSP00000414237 INTS2 1204 Integrator complex subunit 2; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex 9606.ENSP00000414253 CT47A2 288 Cancer/testis antigen family 47, member A2 9606.ENSP00000414287 MST1 725 Hepatocyte growth factor-like protein; Macrophage stimulating 1 9606.ENSP00000414302 SRSF12 261 Serine/arginine-rich splicing factor 12; Splicing factor that seems to antagonize SR proteins in pre-mRNA splicing regulation; RNA binding motif containing 9606.ENSP00000414303 BDNF 329 Brain-derived neurotrophic factor; During development, promotes the survival and differentiation of selected neuronal populations of the peripheral and central nervous systems. Participates in axonal growth, pathfinding and in the modulation of dendritic growth and morphology. Major regulator of synaptic transmission and plasticity at adult synapses in many regions of the CNS. The versatility of BDNF is emphasized by its contribution to a range of adaptive neuronal responses including long-term potentiation (LTP), long-term depression (LTD), certain forms of short-term synaptic plastic [...] 9606.ENSP00000414321 RPS24 289 40S ribosomal protein S24; Required for processing of pre-rRNA and maturation of 40S ribosomal subunits; Belongs to the eukaryotic ribosomal protein eS24 family 9606.ENSP00000414330 RIMKLA 391 N-acetylaspartylglutamate synthase A; Catalyzes the synthesis of N-acetyl-L-aspartyl-L- glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate; Belongs to the RimK family 9606.ENSP00000414350 MUC20 709 Mucin-20; May regulate MET signaling cascade. Seems to decrease hepatocyte growth factor (HGF)-induced transient MAPK activation. Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway. Inhibits HGF-induced proliferation of MMP1 and MMP9 expression; Mucins 9606.ENSP00000414359 PSMA1 269 Proteasome subunit alpha type-1; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing pro [...] 9606.ENSP00000414378 EFNA4 207 Ephrin-A4; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils; Ephrins 9606.ENSP00000414390 C11orf70 267 Uncharacterized protein C11orf70; Chromosome 11 open reading frame 70 9606.ENSP00000414392 USP17L13 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 13; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000414398 DNAJB11 358 DnaJ homolog subfamily B member 11; Serves as a co-chaperone for HSPA5. Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed. May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity; DNAJ heat shock proteins 9606.ENSP00000414451 FAM177B 158 Protein FAM177B; Family with sequence similarity 177 member B 9606.ENSP00000414509 CT47A12 288 Cancer/testis antigen family 47, member A12 9606.ENSP00000414516 SS18 418 Protein SSXT; Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2 function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional coactivation; BAF complex 9606.ENSP00000414517 MAMLD1 998 Mastermind-like domain-containing protein 1; Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ; Belongs to the mastermind family 9606.ENSP00000414558 ABHD4 342 Protein ABHD4; Lysophospholipase selective for N-acyl phosphatidylethanolamine (NAPE). Contributes to the biosynthesis of N-acyl ethanolamines, including the endocannabinoid anandamide by hydrolyzing the sn-1 and sn-2 acyl chains from N-acyl phosphatidylethanolamine (NAPE) generating glycerophospho-N-acyl ethanolamine (GP-NAE), an intermediate for N-acyl ethanolamine biosynthesis. Hydrolyzes substrates bearing saturated, monounsaturated, polyunsaturated N-acyl chains. Shows no significant activity towards other lysophospholipids, including lysophosphatidylcholine, lysophosphatidylethan [...] 9606.ENSP00000414597 EFCC1 598 EF-hand and coiled-coil domain containing 1 9606.ENSP00000414624 PRPSAP1 385 Phosphoribosyl pyrophosphate synthase-associated protein 1; Seems to play a negative regulatory role in 5- phosphoribose 1-diphosphate synthesis 9606.ENSP00000414635 LRRC34 464 Leucine-rich repeat-containing protein 34; Highly expressed in stem cells where it may be involved in regulation of pluripotency. In embryonic stem cells (ESCs), important for normal expression of the pluripotency regulators POU5F1/OCT4 and KLF4. Also important for expression of the ectodermal marker gene NES and the endodermal marker gene GATA4. Promotes stem cell proliferation in vitro 9606.ENSP00000414657 OSR2 433 Protein odd-skipped-related 2; Odd-skipped related transciption factor 2; Zinc fingers C2H2-type 9606.ENSP00000414670 LMOD3 560 Leiomodin-3; Essential for the organization of sarcomeric actin thin filaments in skeletal muscle. Increases the rate of actin polymerization; Belongs to the tropomodulin family 9606.ENSP00000414721 WBP1L 363 WW domain binding protein 1 like; WBP1/VOPP1 family 9606.ENSP00000414786 TMEM64 380 Transmembrane protein 64; Positively regulates TNFSF11-induced osteoclast differentiation. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with SERCA2 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca (2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca (2+) signaling cascades that promote osteoclast differentiation and activation. Negatively regulates [...] 9606.ENSP00000414851 ELP2 891 Elongator complex protein 2; Regulates the ligand-dependent activation of STAT3; Belongs to the WD repeat ELP2 family 9606.ENSP00000414856 SPARCL1 664 SPARC-like protein 1; SPARC family 9606.ENSP00000414884 HYLS1 299 Hydrolethalus syndrome protein 1; Plays a role in ciliogenesis 9606.ENSP00000414886 KCNIP1 241 Potassium voltage-gated channel interacting protein 1; EF-hand domain containing 9606.ENSP00000414887 ZNF879 563 Zinc finger protein 879; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000414891 GVQW1 195 Protein GVQW1; GVQW motif containing 1 9606.ENSP00000414904 CTSO 321 Cathepsin O; Proteolytic enzyme possibly involved in normal cellular protein degradation and turnover; Belongs to the peptidase C1 family 9606.ENSP00000414906 DCTN4 467 Dynactin subunit 4; Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton 9606.ENSP00000414909 C1orf167 1468 Uncharacterized protein C1orf167; Chromosome 1 open reading frame 167 9606.ENSP00000414920 SPATA24 205 Spermatogenesis-associated protein 24; Binds DNA with high affinity but does not bind to TATA boxes. Synergises with GMNN and TBP in activation of TATA box- containing promoters and with GMNN and TBPL1 in activation of the NF1 TATA-less promoter. May play a role in cytoplasm movement and removal during spermiogenesis (By similarity) 9606.ENSP00000414921 PTBP3 558 Polypyrimidine tract-binding protein 3; RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U) 9606.ENSP00000414922 USP41 358 Putative ubiquitin carboxyl-terminal hydrolase 41; May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins (By similarity); Ubiquitin specific peptidases 9606.ENSP00000414964 CCDC107 283 Coiled-coil domain containing 107 9606.ENSP00000414982 KLC1 618 Kinesin light chain 1; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity; Tetratricopeptide repeat domain containing 9606.ENSP00000415011 SLC30A8 369 Zinc transporter 8; Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta- cells; Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily 9606.ENSP00000415026 PRRT4 899 Proline rich transmembrane protein 4 9606.ENSP00000415027 C16orf96 1141 Uncharacterized protein C16orf96; Chromosome 16 open reading frame 96 9606.ENSP00000415030 TMEM171 324 Transmembrane protein 171 9606.ENSP00000415034 NBEAL2 2754 Neurobeachin-like protein 2; Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis; Armadillo-like helical domain containing 9606.ENSP00000415049 GSDMB 416 Gasdermin-B; The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores. The physiological relevance of this observation is unknown (Probable); Gasdermins 9606.ENSP00000415056 EXD1 572 piRNA biogenesis protein EXD1; RNA-binding component of the PET complex, a multiprotein complex required for the processing of piRNAs during spermatogenesis. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposable elements, preventing their mobilization, which is essential for the germline integrity (By similarity). The PET complex is required during the secondary piRNAs metabolic process for the PIWIL2 slicing- triggered lo [...] 9606.ENSP00000415070 ENSG00000270011 481 ZNF559-ZNF177 readthrough; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000415078 CACTIN 758 Cactin; Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing; Belongs to the CACTIN family 9606.ENSP00000415090 MYO7B 2116 Unconventional myosin-VIIb; Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. May link the complex to the actin core bundle of microvilli (Probable); FERM domain containing 9606.ENSP00000415106 KBTBD4 534 Kelch repeat and BTB domain containing 4 9606.ENSP00000415115 METTL21A 218 Protein N-lysine methyltransferase METTL21A; Protein-lysine methyltransferase that selectively trimethylates residues in heat shock protein 70 (HSP70) family members. Contributes to the in vivo trimethylation of Lys residues in HSPA1 and HSPA8. In vitro methylates 'Lys-561' in HSPA1, 'Lys- 564' in HSPA2, 'Lys-585' in HSPA5, 'Lys-563' in HSPA6 and 'Lys- 561' in HSPA8 9606.ENSP00000415139 TICAM2 235 TIR domain-containing adapter molecule 2; Functions as sorting adapter in LPS-TLR4 signaling to regulate the MYD88-independent pathway during the innate immune response to LPS. Physically bridges TLR4 and TICAM1 and functionally transmits LPS-TRL4 signal to TICAM1; signaling is proposed to occur in early endosomes after endocytosis of TLR4. May also be involved in IL1-triggered NF-kappa-B activation, functioning upstream of IRAK1, IRAK2, TRAF6, and IKBKB; however, reports are controversial. Involved in IL-18 signaling and is proposed to function as a sorting adaptor for MYD88 in IL-18 [...] 9606.ENSP00000415151 CBFB 187 Core-binding factor subunit beta; CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM- CSF promoters. CBFB enhances DNA binding by RUNX1; Belongs to the CBF-beta family 9606.ENSP00000415178 ENSG00000249590 338 Uncharacterized protein 9606.ENSP00000415203 PIGG 983 GPI ethanolamine phosphate transferase 2; Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose; Belongs to the PIGG/PIGN/PIGO family. PIGG subfamily 9606.ENSP00000415207 NPIPB7 421 Nuclear pore complex interacting protein family member B7 9606.ENSP00000415243 SKIL 684 Ski-like protein; May have regulatory role in cell division or differentiation in response to extracellular signals; Belongs to the SKI family 9606.ENSP00000415283 ICAM2 275 Intercellular adhesion molecule 2; ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen- specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance; CD molecules 9606.ENSP00000415299 FAM221B 402 Protein FAM221B; Family with sequence similarity 221 member B; Belongs to the FAM221 family 9606.ENSP00000415332 SESTD1 696 SEC14 domain and spectrin repeat-containing protein 1; May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP2s) and phosphatidic acid, but not less polar lipids including phosphatidylcholine, phosphatidylserine, and phosphatidylinositol. The binding to PIP2s is calcium dependent. Might be involved in the plasma membrane localization of CTNNB1 9606.ENSP00000415430 GTSE1 739 G2 and S phase-expressed protein 1; May be involved in p53-induced cell cycle arrest in G2/M phase by interfering with microtubule rearrangements that are required to enter mitosis. Overexpression delays G2/M phase progression 9606.ENSP00000415433 INTS12 462 Integrator complex subunit 12; Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex 9606.ENSP00000415434 USP40 1247 Ubiquitin carboxyl-terminal hydrolase 40; May be catalytically inactive; Belongs to the peptidase C19 family 9606.ENSP00000415436 KANSL2 492 KAT8 regulatory NSL complex subunit 2; As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription 9606.ENSP00000415454 GCNT1 428 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase; Glycosyltransferase that catalyzes the transfer of an N- acetylglucosamine moiety onto mucin-type core 1 O-glycan to form the branched mucin-type core 2 O-glycan. Mucin-type core 2 O- glycans play an important role in leukocyte extravasation as they serve as scaffolds for the display of the selectin ligand sialyl Lewis X by leukocytes; Glucosaminyl transferases/xylosyltransferases 9606.ENSP00000415491 PHYHIP 330 Phytanoyl-CoA hydroxylase-interacting protein; Its interaction with PHYH suggests a role in the development of the central system 9606.ENSP00000415517 C6orf10 563 Uncharacterized protein C6orf10; Chromosome 6 open reading frame 10 9606.ENSP00000415528 CCDC81 652 Coiled-coil domain containing 81 9606.ENSP00000415536 POLR2H 175 DNA-directed RNA polymerases I, II, and III subunit RPABC3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively; Belongs to the eukaryotic RPB8 RNA polymerase subunit family 9606.ENSP00000415556 DCAF11 546 DDB1- and CUL4-associated factor 11; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000415579 CTCFL 700 Transcriptional repressor CTCFL; Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases a [...] 9606.ENSP00000415609 IQCF3 154 IQ motif containing F3 9606.ENSP00000415662 C17orf105 164 Uncharacterized protein C17orf105; Chromosome 17 open reading frame 105 9606.ENSP00000415769 ITIH3 890 Inter-alpha-trypsin inhibitor heavy chain H3; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes 9606.ENSP00000415774 ZNF732 585 Zinc finger protein 732; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000415786 SERPINE2 409 Glia-derived nexin; Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin; Belongs to the serpin family 9606.ENSP00000415822 ATXN1L 689 Ataxin-1-like; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development (By similarity) 9606.ENSP00000415823 IGFL1 110 Insulin growth factor-like family member 1; Probable ligand of the IGFLR1 cell membrane receptor 9606.ENSP00000415836 ZNF276 614 Zinc finger protein 276; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000415840 ENSG00000250644 262 Uncharacterized protein 9606.ENSP00000415899 PUS7L 701 Pseudouridylate synthase 7 like 9606.ENSP00000415900 IL31RA 764 Interleukin-31 receptor subunit alpha; Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5. May function in skin immunity. Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor cell survival in vitro (By similarity); Belongs to the type I cytokine receptor family. Type 2 subfamily 9606.ENSP00000415941 C4B 1744 Complement C4-B; Non-enzymatic component of the C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens 9606.ENSP00000415968 STRBP 672 Spermatid perinuclear RNA-binding protein; Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity) 9606.ENSP00000415998 SLC48A1 146 Heme transporter HRG1; Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment; Solute carriers 9606.ENSP00000416002 SLC35A2 421 UDP-galactose translocator; Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily 9606.ENSP00000416015 MICAL3 2002 [F-actin]-monooxygenase MICAL3; Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Seems to act as Rab effector protein and plays a role in vesicle trafficking. Involved in exocytic vesicles tethering and fusion: the monooxygenase activity is required for this process and implicates RAB8A associated with exocytotic vesicles. Required fo [...] 9606.ENSP00000416033 PROB1 1015 Proline rich basic protein 1 9606.ENSP00000416040 KIAA1549 1950 UPF0606 protein KIAA1549; KIAA1549 9606.ENSP00000416050 TM2D2 214 TM2 domain containing 2 9606.ENSP00000416066 SERPINA1 418 Alpha-1-antitrypsin; Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin; Belongs to the serpin family 9606.ENSP00000416097 GOLGA2 1002 Golgin subfamily A member 2; Peripheral membrane component of the cis-Golgi stack that acts as a membrane skeleton that maintains the structure of the Golgi apparatus, and as a vesicle thether that facilitates vesicle fusion to the Golgi membrane. Together with p115/USO1 and STX5, involved in vesicle tethering and fusion at the cis-Golgi membrane to maintain the stacked and inter-connected structure of the Golgi apparatus. Plays a central role in mitotic Golgi disassembly: phosphorylation at Ser-37 by CDK1 at the onset of mitosis inhibits the interaction with p115/USO1, preventing teth [...] 9606.ENSP00000416125 ARHGEF38 777 Rho guanine nucleotide exchange factor 38; May act as a guanine-nucleotide releasing factor; Classical BAR domain containing 9606.ENSP00000416126 PRAP1 151 Proline-rich acidic protein 1; May play an important role in maintaining normal growth homeostasis in epithelial cells 9606.ENSP00000416154 TMEM238 176 Transmembrane protein 238 9606.ENSP00000416168 TRANK1 2925 Tetratricopeptide repeat and ankyrin repeat containing 1 9606.ENSP00000416193 P2RX6 441 P2X purinoceptor 6; Receptor for ATP that acts as a ligand-gated ion channel; Belongs to the P2X receptor family 9606.ENSP00000416249 GAGE12G 117 G antigen 12G; Belongs to the GAGE family 9606.ENSP00000416250 EIF2B1 305 Translation initiation factor eIF-2B subunit alpha; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP 9606.ENSP00000416255 EIF4G1 1606 Eukaryotic translation initiation factor 4 gamma 1; Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome; Parkinson disease associated genes 9606.ENSP00000416289 WDR27 895 WD repeat-containing protein 27; WD repeat domain containing 9606.ENSP00000416293 SLC2A1 492 Solute carrier family 2, facilitated glucose transporter member 1; Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily 9606.ENSP00000416330 TGFBI 683 Transforming growth factor-beta-induced protein ig-h3; Plays a role in cell adhesion. May play a role in cell-collagen interactions (By similarity) 9606.ENSP00000416341 NELL2 866 Protein kinase C-binding protein NELL2; Required for neuron survival through the modulation of MAPK pathways (By similarity). Involved in the regulation of hypothalamic GNRH secretion and the control of puberty (By similarity) 9606.ENSP00000416387 FBLIM1 374 Filamin-binding LIM protein 1; Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of filamin- containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion; LIM domain containing 9606.ENSP00000416418 SLC9A8 597 Sodium/hydrogen exchanger 8; Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Plays an important role in signal transduction; Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family 9606.ENSP00000416429 RPL32 135 Ribosomal protein L32; Belongs to the eukaryotic ribosomal protein eL32 family 9606.ENSP00000416508 ATP13A3 1226 Probable cation-transporting ATPase 13A3; ATPase orphan transporters 9606.ENSP00000416515 FDXR 534 NADPH:adrenodoxin oxidoreductase, mitochondrial; Serves as the first electron transfer protein in all the mitochondrial P450 systems. Including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver; Belongs to the ferredoxin--NADP reductase type 1 family 9606.ENSP00000416523 SEMA4D 862 Semaphorin-4D; Cell surface receptor for PLXN1B and PLXNB2 that plays an important role in cell-cell signaling. Promotes reorganization of the actin cytoskeleton and plays a role in axonal growth cone guidance in the developing central nervous system. Regulates dendrite and axon branching and morphogenesis. Promotes the migration of cerebellar granule cells and of endothelial cells. Plays a role in the immune system; induces B-cells to aggregate and improves their viability (in vitro). Promotes signaling via SRC and PTK2B/PYK2, which then mediates activation of phosphatidylinositol 3-k [...] 9606.ENSP00000416534 DDX46 1032 Probable ATP-dependent RNA helicase DDX46; Plays an essential role in splicing, either prior to, or during splicing A complex formation; Belongs to the DEAD box helicase family. DDX46/PRP5 subfamily 9606.ENSP00000416558 FBXO24 618 F-box only protein 24; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000416561 CFB 764 Complement factor B; Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B- lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes; Belongs to the peptidase S1 family 9606.ENSP00000416583 DERA 318 Deoxyribose-phosphate aldolase; Catalyzes a reversible aldol reaction between acetaldehyde and D-glyceraldehyde 3-phosphate to generate 2-deoxy- D-ribose 5-phosphate. Participates in stress granule (SG) assembly. May allow ATP production from extracellular deoxyinosine in conditions of energy deprivation 9606.ENSP00000416606 FSHB 129 Follitropin subunit beta; Stimulates development of follicle and spermatogenesis in the reproductive organs; Belongs to the glycoprotein hormones subunit beta family 9606.ENSP00000416658 NME6 194 Nucleoside diphosphate kinase 6; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Inhibitor of p53-induced apoptosis; NME/NM23 family 9606.ENSP00000416662 ZNF713 430 Zinc finger protein 713; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000416673 PATL2 543 Protein PAT1 homolog 2; RNA-binding protein that acts as a translational repressor; Armadillo-like helical domain containing 9606.ENSP00000416683 IGFALS 643 Insulin-like growth factor-binding protein complex acid labile subunit; Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion 9606.ENSP00000416696 RIC1 1423 RAB6A-GEF complex partner protein 1; The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1- RGP1 complex participates in the recycling of mannose-6-phosphate receptors. Required for phosphorylation and localization of GJA1; WD repeat domain containing 9606.ENSP00000416706 ACTBL2 376 Beta-actin-like protein 2; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells 9606.ENSP00000416707 XKR6 641 XK-related protein 6; XK related family; Belongs to the XK family 9606.ENSP00000416739 RECQL 649 ATP-dependent DNA helicase Q1; DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction; Belongs to the helicase family. RecQ subfamily 9606.ENSP00000416741 HS3ST6 359 Heparan sulfate glucosamine 3-O-sulfotransferase 6; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes Simplex Virus-1 (HSV-1) and permits its entry. Unlike 3- OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate; Sulfotransferases, membrane bound 9606.ENSP00000416750 STK33 514 Serine/threonine-protein kinase 33; Serine/threonine protein kinase which phosphorylates VIME. May play a specific role in the dynamic behavior of the intermediate filament cytoskeleton by phosphorylation of VIME (By similarity). Not essential for the survival of KRAS-dependent AML cell lines 9606.ENSP00000416753 MUC15 361 Mucin-15; May play a role in the cell adhesion to the extracellular matrix; Mucins 9606.ENSP00000416787 GALNT11 608 Polypeptide N-acetylgalactosaminyltransferase 11; Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N- acetylgalactosaminyltransferases catalyze the transfer of an N- acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme [...] 9606.ENSP00000416797 CAMSAP3 1276 Calmodulin-regulated spectrin-associated protein 3; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization. Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization. Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization. In addition, it also reduces the velocity of microtubule [...] 9606.ENSP00000416799 SPATA2 520 Spermatogenesis-associated protein 2; May have a role in the regulation of spermatogenesis; Belongs to the SPATA2 family 9606.ENSP00000416809 ZNF679 411 Zinc finger protein 679; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000416951 ZC3H18 977 Zinc finger CCCH-type containing 18 9606.ENSP00000416959 TRA2B 288 Transformer-2 protein homolog beta; Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre- mRNA; Belongs to the splicing factor SR family 9606.ENSP00000416984 MEPE 525 Matrix extracellular phosphoglycoprotein; Promotes renal phosphate excretion and modulates mineralization; SIBLING family 9606.ENSP00000416996 ACKR2 384 Atypical chemokine receptor 2; Atypical chemokine receptor that controls chemokine levels and localization via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalizing receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines including CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL17, CCL22, CCL23, CCL24, SCYA2/MCP-1, SCY3/MIP-1-alpha, SCYA5/RANTES and SCYA7/M [...] 9606.ENSP00000417003 PLEKHM3 761 Pleckstrin homology domain containing M3 9606.ENSP00000417035 C19orf81 198 Putative uncharacterized protein C19orf81; Chromosome 19 open reading frame 81 9606.ENSP00000417038 PHACTR2 645 Phosphatase and actin regulator 2 9606.ENSP00000417050 ENSG00000250349 279 Tetraspanin; Uncharacterized protein; cDNA FLJ59144, highly similar to Tetraspanin-7 9606.ENSP00000417052 EBP 230 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers; Belongs to the EBP family 9606.ENSP00000417061 KIAA1751 1584 Cilia- and flagella-associated protein 74; As part of the central apparatus of the cilium axoneme may play a role in cilium movement 9606.ENSP00000417063 SPATA6L 334 Spermatogenesis-associated 6-like protein; Spermatogenesis associated 6 like 9606.ENSP00000417078 DHX36 1008 ATP-dependent RNA helicase DHX36; Proposed to have a global role in regulating mRNA expression including transcriptional regulation and mRNA stability. Binds with high affinity to and resolves tetramolecular RNA and DNA quadruplex structures. Unwinds intramolecular quadruplexes derived from the ZIC1 and the MYC promoters. Binds to quadruplex structures in the promoters of YY1 and ALPL genes and regulates their expression. Binds to telomerase RNA template component (TERC) 5'-end (nucleotides 1-43) and unwinds an internal quadruplex formation in TERC 5'-end to promote P1 helix formation; [...] 9606.ENSP00000417085 SLC15A2 729 Solute carrier family 15 member 2; Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides; Belongs to the PTR2/POT transporter (TC 2.A.17) family 9606.ENSP00000417128 DEFB121 76 Beta-defensin 121; Has antibacterial activity; Belongs to the beta-defensin family 9606.ENSP00000417132 BAP1 729 Ubiquitin carboxyl-terminal hydrolase BAP1; Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'- linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chai [...] 9606.ENSP00000417138 PLTP 493 Phospholipid transfer protein; Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol, phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL, thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from peripheral cells and tissues that [...] 9606.ENSP00000417142 NDUFA5 116 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone 9606.ENSP00000417161 GPR143 404 G-protein coupled receptor 143; Receptor for tyrosine, L-DOPA and dopamine. After binding to L-DOPA, stimulates Ca(2+) influx into the cytoplasm, increases secretion of the neurotrophic factor SERPINF1 and relocalizes beta arrestin at the plasma membrane; this ligand- dependent signaling occurs through a G(q)-mediated pathway in melanocytic cells. Its activity is mediated by G proteins which activate the phosphoinositide signaling pathway. Plays also a role as an intracellular G protein-coupled receptor involved in melanosome biogenesis, organization and transport; 7TM orphan receptors 9606.ENSP00000417175 VAPB 243 Vesicle-associated membrane protein-associated protein B/C; Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation 9606.ENSP00000417182 DPCR1 1393 Diffuse panbronchiolitis critical region 1 9606.ENSP00000417183 DUSP7 419 Dual specificity protein phosphatase 7; Regulates the activity of the MAP kinase family in response to changes in the cellular environment. PYST2-S may act as a negative regulator of PYST2-L although it is unclear whether this is by competing for transcription, translation or activation factors 9606.ENSP00000417185 VWA1 445 Von Willebrand factor A domain-containing protein 1; Promotes matrix assembly; Fibronectin type III domain containing 9606.ENSP00000417190 ATPAF2 289 ATP synthase mitochondrial F1 complex assembly factor 2; May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase); Belongs to the ATP12 family 9606.ENSP00000417192 ZNF80 273 Zinc finger protein 80; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000417196 PCBP4 403 Poly(rC)-binding protein 4; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC 9606.ENSP00000417207 HOXB3 431 Homeobox protein Hox-B3; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family 9606.ENSP00000417214 PARP15 678 Poly [ADP-ribose] polymerase 15; Possesses ADP-ribosyltransferase activity. Transcriptional repressor; Poly(ADP-ribose) polymerases 9606.ENSP00000417222 CPB1 417 M14 carboxypeptidases; Belongs to the peptidase M14 family 9606.ENSP00000417229 EIF2A 585 Eukaryotic translation initiation factor 2A; Functions in the early steps of protein synthesis of a small number of specific mRNAs. Acts by directing the binding of methionyl-tRNAi to 40S ribosomal subunits. In contrast to the eIF- 2 complex, it binds methionyl-tRNAi to 40 S subunits in a codon- dependent manner, whereas the eIF-2 complex binds methionyl-tRNAi to 40 S subunits in a GTP-dependent manner. May act by impiging the expression of specific proteins; WD repeat domain containing 9606.ENSP00000417235 MED12L 2145 Mediator of RNA polymerase II transcription subunit 12-like protein; May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By [...] 9606.ENSP00000417240 RPSAP58 295 Ribosomal protein SA pseudogene 58 9606.ENSP00000417261 GPR156 814 Probable G-protein coupled receptor 156; Orphan receptor; Belongs to the G-protein coupled receptor 3 family. GABA-B receptor subfamily 9606.ENSP00000417273 NCK1 377 Cytoplasmic protein NCK1; Adapter protein which associates with tyrosine- phosphorylated growth factor receptors, such as KDR and PDGFRB, or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in the DNA damage response, not in the detection of the damage by ATM/ATR, but for efficient activation of downstream effectors, such as that of CHEK2. Plays a role in ELK1-dependent transcriptional activation in response to activated Ras signaling. Modulates the activation of EIF2AK2/PKR by dsRNA. May play a role in ce [...] 9606.ENSP00000417289 CTAGE8 777 CTAGE family member 8 9606.ENSP00000417291 REPIN1 624 Replication initiator 1; Sequence-specific double-stranded DNA-binding protein required for initiation of chromosomal DNA replication. Binds on 5'-ATT-3' reiterated sequences downstream of the origin of bidirectional replication (OBR) and a second, homologous ATT sequence of opposite orientation situated within the OBR zone. Facilitates DNA bending; Zinc fingers C2H2-type 9606.ENSP00000417303 KLF8 359 Krueppel-like factor 8; Transcriptional repressor and activator. Binds to CACCC- boxes promoter elements. Also binds the GT-box of cyclin D1 promoter and mediates cell cycle progression at G(1) phase as a downstream target of focal adhesion kinase (FAK); Belongs to the Sp1 C2H2-type zinc-finger protein family 9606.ENSP00000417330 KRTAP5-7 165 Keratin-associated protein 5-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 5 family 9606.ENSP00000417335 ROBO2 1394 Roundabout homolog 2; Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development; Belongs to the immunoglobulin superfamily. ROBO family 9606.ENSP00000417354 GOLIM4 696 Golgi integral membrane protein 4; Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi 9606.ENSP00000417378 ATP6V1F 147 ATPase H+ transporting V1 subunit F; V-type ATPases 9606.ENSP00000417401 HELZ2 2649 Helicase with zinc finger domain 2; Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA; Belongs to the DNA2/NAM7 helicase family 9606.ENSP00000417404 HFE 348 Hereditary hemochromatosis protein; Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin; Belongs to the MHC class I family 9606.ENSP00000417418 DNAJB8 232 DnaJ homolog subfamily B member 8; Efficient suppressor of aggregation and toxicity of disease-associated polyglutamine proteins; DNAJ heat shock proteins 9606.ENSP00000417451 RBMXL3 1067 RNA binding motif protein, X-linked like 3 9606.ENSP00000417464 RRP1 461 Ribosomal RNA processing protein 1 homolog A; Plays a critical role in the generation of 28S rRNA; Belongs to the RRP1 family 9606.ENSP00000417470 ZNF786 782 Zinc finger protein 786; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000417480 FHIT 147 Bis(5'-adenosyl)-triphosphatase; Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'- adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptos [...] 9606.ENSP00000417492 FSD1L 530 FSD1-like protein; Fibronectin type III and SPRY domain containing 1 like 9606.ENSP00000417498 MUC4 5412 Mucin-4; May play a role in tumor progression. Ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation. Has anti-adhesive properties. Seems to alter cellular behavior through both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and in its ability to act as an intramembrane ligand for ERBB2. Plays an important role in cell proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. The MUC4-ERBB2 complex causes site-specific phosphorylation of the ERBB2 'Tyr-1248'. In [...] 9606.ENSP00000417509 FAM208A 1512 Protein TASOR; Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3; Belongs to the FAM208 family 9606.ENSP00000417510 SUPT20H 811 SPT20 homolog, SAGA complex component 9606.ENSP00000417517 ENSG00000173366 1186 Toll-like receptor 9; Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Controls lymphocyte response to Helicobacter infection (By similarity). Upon CpG stimulation, induces B-cell proliferation, activation, survival and an [...] 9606.ENSP00000417518 CLASP2 1293 CLIP-associating protein 2; Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at le [...] 9606.ENSP00000417548 DNAJC24 149 DnaJ homolog subfamily C member 24; Stimulates the ATPase activity of several Hsp70-type chaperones. This ability is enhanced by iron-binding. The iron- bound form is redox-active and can function as electron carrier. Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta); Belongs to the DPH4 family 9606.ENSP00000417556 ENSG00000251184 107 Uncharacterized protein 9606.ENSP00000417569 STIM2 754 Stromal interaction molecule 2; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRA [...] 9606.ENSP00000417573 YIPF6 236 Protein YIPF6; May be required for stable YIPF1 and YIPF2 protein expression; Yip1 domain containing 9606.ENSP00000417580 IAH1 248 Isoamyl acetate-hydrolyzing esterase 1 homolog; Probable lipase 9606.ENSP00000417581 FAM199X 388 Protein FAM199X; Family with sequence similarity 199, X-linked; Belongs to the FAM199 family 9606.ENSP00000417583 ST6GALNAC5 336 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5; Involved in the biosynthesis of ganglioside GD1a from GM1b. It exhibits higher activity with glycolipids than with glycoproteins (By similarity); Sialyltransferases 9606.ENSP00000417601 FBXL2 423 F-box/LRR-repeat protein 2; Calcium-activated substrate recognition component of the SCF (SKP1-cullin-F-box protein) E3 ubiquitin-protein ligase complex, SCF(FBXL2), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Unlike many F-box proteins, FBXL2 does not seem to target phosphodegron within its substrates but rather calmodulin-binding motifs and is thereby antagonized by calmodulin. This is the case for the cyclins CCND2 and CCND3 which polyubiquitination and subsequent degradation are inhibited by calmodulin. Through CCND2 and CCND3 degrad [...] 9606.ENSP00000417602 MRPL47 250 Mitochondrial ribosomal protein L47 9606.ENSP00000417604 C6orf1 159 Uncharacterized protein SMIM29; Chromosome 6 open reading frame 1 9606.ENSP00000417610 RAB23 237 Ras-related protein Rab-23; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 pr [...] 9606.ENSP00000417626 TMEM176A 235 Transmembrane protein 176A; Membrane spanning 4-domains 9606.ENSP00000417638 SLC26A8 970 Testis anion transporter 1; Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. May form a moleculer complex involved in the regulation of chloride and bicarbonate ions fluxes [...] 9606.ENSP00000417653 DBNL 439 Drebrin-like protein; Adapter protein that binds F-actin and DNM1, and thereby plays a role in receptor-mediated endocytosis. Plays a role in the reorganization of the actin cytoskeleton, formation of cell projections, such as neurites, in neuron morphogenesis and synapse formation via its interaction with WASL and COBL. Does not bind G- actin and promote actin polymerization by itself. Required for the formation of organized podosome rosettes (By similarity). May act as a common effector of antigen receptor-signaling pathways in leukocytes. Acts as a key component of the immunological [...] 9606.ENSP00000417654 SLC35A5 424 Probable UDP-sugar transporter protein SLC35A5; Solute carrier family 35 member A5 9606.ENSP00000417656 COX7B 80 Cytochrome c oxidase subunit 7B, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates 9606.ENSP00000417658 PTCHD3 767 Patched domain-containing protein 3; May play a role in sperm development or sperm function 9606.ENSP00000417659 PPM1L 360 Protein phosphatase 1L; Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6; Protein phosphatases, Mg2+/Mn2+ dependent 9606.ENSP00000417677 ZBTB8OS 179 Protein archease; Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB. Together with DDX1, acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation; Belongs to the archease family 9606.ENSP00000417686 SLBP 270 Histone RNA hairpin-binding protein; RNA-binding protein involved in the histone pre-mRNA processing. Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3'-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery. Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expressio [...] 9606.ENSP00000417696 ZNF525 479 Zinc finger protein 525; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000417706 DCUN1D2 259 DCN1-like protein 2; Potently stimulates the neddylation of cullin components of SCF-type E3 ubiquitin ligase complexes from the NEDD8- conjugating E2 enzyme UBC12. Neddylation of cullins play an essential role in the regulation of SCF-type complexes activity 9606.ENSP00000417710 DPPA2 298 Developmental pluripotency-associated protein 2; Binds to target gene promoters, including NKX2-5 and SYCE1, but not GATA4, and may be involved in the maintenance of the active epigenetic status of these genes 9606.ENSP00000417711 FAM205A 1335 Protein FAM205A; Family with sequence similarity 205 member A 9606.ENSP00000417748 DDI2 399 DNA damage inducible 1 homolog 2; Belongs to the DDI1 family 9606.ENSP00000417763 NAA10 235 N-alpha-acetyltransferase 10; Catalytic subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. Acetylates amino termini that are devoid of initiator methionine. The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation. Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration. Acetylates, and stabili [...] 9606.ENSP00000417764 ALG2 416 Alpha-1,3/1,6-mannosyltransferase ALG2; Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily 9606.ENSP00000417769 IQUB 791 IQ and ubiquitin-like domain-containing protein; May play roles in cilia formation and/or maintenance 9606.ENSP00000417806 SMIM4 70 Small integral membrane protein 4 9606.ENSP00000417864 ANP32A 249 Acidic leucine-rich nuclear phosphoprotein 32 family member A; Implicated in a number of cellular processes, including proliferation, differentiation, caspase-dependent and caspase- independent apoptosis, suppression of transformation (tumor suppressor), inhibition of protein phosphatase 2A, regulation of mRNA trafficking and stability in association with ELAVL1, and inhibition of acetyltransferases as part of the INHAT (inhibitor of histone acetyltransferases) complex. Plays a role in E4F1- mediated transcriptional repression; Belongs to the ANP32 family 9606.ENSP00000417898 PAEP 180 Glycodelin; Glycoprotein that regulates critical steps during fertilization and also has immunomonomodulatory effects. Four glycoforms, namely glycodelin-S, -A, -F and -C have been identified in reproductive tissues that differ in glycosylation and biological activity. Glycodelin-A has contraceptive and immunosuppressive activities. Glycodelin-C stimulates binding of spermatozoa to the zona pellucida. Glycodelin-F inhibits spermatozoa- zona pellucida binding and significantly suppresses progesterone- induced acrosome reaction of spermatozoa. Glycodelin-S in seminal plasma maintains the [...] 9606.ENSP00000417901 GPHN 769 Gephyrin; Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released; In the C-terminal section; belongs to the MoeA family 9606.ENSP00000417914 ASB11 323 Ankyrin repeat and SOCS box protein 11; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000417919 TSPYL6 410 Testis-specific Y-encoded-like protein 6; TSPY like 6 9606.ENSP00000417955 VWA3B 1294 Von Willebrand factor A domain containing 3B 9606.ENSP00000417963 PPP2R5D 602 Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment; Belongs to the phosphatase 2A regulatory subunit B56 family 9606.ENSP00000417980 EHMT1 1298 Histone-lysine N-methyltransferase EHMT1; Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding [...] 9606.ENSP00000418001 GK5 529 Glycerol kinase 5 9606.ENSP00000418008 MRPS22 360 Mitochondrial ribosomal protein S22; Belongs to the mitochondrion-specific ribosomal protein mS22 family 9606.ENSP00000418009 RARRES2 163 Retinoic acid receptor responder protein 2; Adipocyte-secreted protein (adipokine) that regulates adipogenesis, metabolism and inflammation through activation of the chemokine-like receptor 1 (CMKLR1). Its other ligands include G protein-coupled receptor 1 (GPR1) and chemokine receptor-like 2 (CCRL2). Positively regulates adipocyte differentiation, modulates the expression of adipocyte genes involved in lipid and glucose metabolism and might play a role in angiogenesis, a process essential for the expansion of white adipose tissue. Also acts as a proinflammatory adipokine, causing an i [...] 9606.ENSP00000418018 IFNE 208 Interferon epsilon; Type I interferon required for maintaining basal levels of IFN-regulated genes, including 2'-5'-oligoadenylate synthetase, IRF7 and ISG15, in the female reproductive tract. Directly mediates protection against viral and bacterial genital infections (By similarity) 9606.ENSP00000418070 PVRL3 549 Nectin-3; Plays a role in cell-cell adhesion through heterophilic trans-interactions with nectin-like proteins or nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions. Trans-interaction with PVR induces activation of CDC42 and RAC small G proteins through common signaling molecules such as SRC and RAP1. Also involved in the formation of cell-cell junctions, including adherens junctions and synapses. Induces endocytosis- mediated down-regulation of PVR from the cell surface, resulting in reduction of cell movement and proliferation. Plays a role in the morpholo [...] 9606.ENSP00000418081 CACNA2D2 1150 Voltage-dependent calcium channel subunit alpha-2/delta-2; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Overexpression induces apoptosis 9606.ENSP00000418082 RPL37A 92 Ribosomal protein L37a 9606.ENSP00000418086 C3orf14 128 Uncharacterized protein C3orf14; Chromosome 3 open reading frame 14 9606.ENSP00000418112 PTPRG 1445 Receptor-type tyrosine-protein phosphatase gamma; Possesses tyrosine phosphatase activity; Fibronectin type III domain containing 9606.ENSP00000418187 ZNF717 110 Zinc finger protein 717; Zinc fingers C2H2-type 9606.ENSP00000418193 SPRR2F 72 Small proline-rich protein 2F; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity); Small proline rich proteins 9606.ENSP00000418194 PARP14 1801 Poly [ADP-ribose] polymerase 14; ADP-ribosyltransferase. By mono-ADP-ribosylating STAT1 at 'Glu-657' and 'Glu-705' and thus decreasing STAT1 phosphorylation, negatively regulates pro-inflammatory cytokines production in macrophages in response to IFNG stimulation. Mono-ADP- ribosylates STAT6 (By similarity). Enhances STAT6-dependent transcription (By similarity). In macrophages, positively regulates MRC1 expression in response to IL4 stimulation by promoting STAT6 phosphorylation. Mono-ADP- ribosylates PARP9; Poly(ADP-ribose) polymerases 9606.ENSP00000418221 RPL7L1 246 Ribosomal protein L7 like 1 9606.ENSP00000418259 ZFP57 536 ZFP57 zinc finger protein; Zinc fingers C2H2-type 9606.ENSP00000418268 MCM10 875 Protein MCM10 homolog; Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. Additionally, plays a role in preventing DNA damage during replication. Key effector of the RBBP6 and ZBTB38-mediated regulation of DNA-replication and common fragile sites stability; acts as a direct target of transcriptional repression by ZBTB38; Belongs to the MCM10 family 9606.ENSP00000418287 CIAO1 339 Probable cytosolic iron-sulfur protein assembly protein CIAO1; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation; Belongs to the WD repeat CIA1 family 9606.ENSP00000418348 CMC1 106 COX assembly mitochondrial protein homolog; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly 9606.ENSP00000418379 TAF1L 1826 Transcription initiation factor TFIID subunit 1-like; May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced; Belongs to the TAF1 family 9606.ENSP00000418397 IVD 426 Isovaleryl-CoA dehydrogenase, mitochondrial; Acyl-CoA dehydrogenase family 9606.ENSP00000418401 SRPRB 271 Signal recognition particle receptor subunit beta; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity) 9606.ENSP00000418428 CHCHD10 142 Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial; May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure; Mitochondrial coiled-coil-helix-coiled-coil-helix domain containing proteins 9606.ENSP00000418438 NDUFA3 84 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000418447 PPP2CA 309 Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform; PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate SV40 large T antigen and p53/TP53. Activates RAF1 by dephosphorylating it at 'Ser-259'; Belongs to the PPP phosphatase family. PP-1 subfamily 9606.ENSP00000418491 LCN10 200 Epididymal-specific lipocalin-10; Lipocalin 10; Belongs to the calycin superfamily. Lipocalin family 9606.ENSP00000418525 MME 750 Neprilysin; Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond. Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9. Involved in the degradation of atrial natriuretic factor (ANF). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers; Belongs to the peptidase M13 family 9606.ENSP00000418529 NSFL1C 372 NSFL1 cofactor p47; Reduces the ATPase activity of VCP. Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP- mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro); Belongs to the NSFL1C family 9606.ENSP00000418532 UGT1A3 534 UDP-glucuronosyltransferase 1-3; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 9606.ENSP00000418563 U2SURP 1029 U2 snRNP-associated SURP motif-containing protein; U2 snRNP associated SURP domain containing; Belongs to the splicing factor SR family 9606.ENSP00000418575 FAM19A1 133 Protein FAM19A1; Family with sequence similarity 19 member A1, C-C motif chemokine like 9606.ENSP00000418593 SNX21 373 Sorting nexin-21; Binds to membranes enriched in phosphatidylinositol 3- phosphate (PtdIns(P3)) and phosphatidylinositol 4,5-bisphosphate. May be involved in several stages of intracellular trafficking; Belongs to the sorting nexin family 9606.ENSP00000418648 UBN2 1347 Ubinuclein-2; Ubinuclein 2; Belongs to the ubinuclein family 9606.ENSP00000418661 PTRH1 214 peptidyl-tRNA hydrolase 1 homolog; Belongs to the PTH family 9606.ENSP00000418663 BOC 1114 Brother of CDO; Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells; Fibronectin type III domain containing 9606.ENSP00000418668 MURC 364 Caveolae-associated protein 4; Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes (By similarity). Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway; Belongs to the CA [...] 9606.ENSP00000418669 SEPHS2 483 Selenide, water dikinase 2; Synthesizes selenophosphate from selenide and ATP; Selenoproteins 9606.ENSP00000418678 EFCAB10 127 EF-hand calcium-binding domain-containing protein 10; EF-hand calcium binding domain 10 9606.ENSP00000418693 RWDD2B 319 RWD domain containing 2B 9606.ENSP00000418695 PSMD6 442 Proteasome 26S subunit, non-ATPase 6 9606.ENSP00000418719 ZNF273 569 Zinc finger protein 273; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000418721 PURG 347 Purine-rich element-binding protein gamma; Purine rich element binding protein G 9606.ENSP00000418734 MYSM1 828 Histone H2A deubiquitinase MYSM1; Metalloprotease that specifically deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator. Preferentially deubiquitinates monoubiquitinated H2A in hyperacetylated nucleosomes. Deubiquitination of histone H2A leads to facilitate the phosphorylation and dissociation of histone H1 from the nucleosome. Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation; Myb/SANT domain containing 9606.ENSP00000418735 ADAMTS9 1935 A disintegrin and metalloproteinase with thrombospondin motifs 9; Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428- Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000418748 ESRP2 717 Epithelial splicing regulatory protein 2; mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 9606.ENSP00000418751 BTBD9 612 BTB/POZ domain-containing protein 9; BTB domain containing 9 9606.ENSP00000418754 PTK7 1078 Inactive tyrosine-protein kinase 7; Inactive tyrosine kinase involved in Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathway. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis; I-set domain containing 9606.ENSP00000418767 TREML2 321 Trem-like transcript 2 protein; Cell surface receptor that may play a role in the innate and adaptive immune response. Acts as a counter-receptor for CD276 and interaction with CD276 on T-cells enhances T-cell activation; V-set domain containing 9606.ENSP00000418770 PARK7 189 Protein/nucleic acid deglycase DJ-1; Protein and nucleotide deglycase that catalyzes the deglycation of the Maillard adducts formed between amino groups of proteins or nucleotides and reactive carbonyl groups of glyoxals. Thus, functions as a protein deglycase that repairs methylglyoxal- and glyoxal-glycated proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminoca [...] 9606.ENSP00000418803 TIMMDC1 285 Complex I assembly factor TIMMDC1, mitochondrial; Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I 9606.ENSP00000418813 SELK 94 Selenoprotein K; Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration (By similarity). Involved in endoplasmic reticulum- associated degradation (ERAD) of soluble glycosylated proteins. Required for palmitoylation and cell surface expression of CD36 and involved in macrophage uptake of low- density lipoprotein and in foam cell formation (By similarity). Together with ZDHHC6, required for palmitoylation of ITPR1 in immune cells, leading to regulate ITPR1 stability and function. Plays a role in protection of cells from E [...] 9606.ENSP00000418823 FTO 505 Alpha-ketoglutarate-dependent dioxygenase FTO; Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards single- stranded RNA containing 3-methyluracil, followed by single- stranded DNA containing 3-methylthymine. Has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. Has no activity towards 1- methylguanine. Has no detectable activity towards doubl [...] 9606.ENSP00000418842 NDUFA6 154 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; LYR motif containing 9606.ENSP00000418868 RPL29 159 60S ribosomal protein L29; Component of the large ribosomal subunit 9606.ENSP00000418875 PRSS50 385 Probable threonine protease PRSS50; May be involved in proteolysis through its threonine endopeptidase activity; Belongs to the peptidase S1 family 9606.ENSP00000418910 SELT 195 Thioredoxin reductase-like selenoprotein T; Selenoprotein with thioredoxin reductase-like oxidoreductase activity (By similarity). Protects dopaminergic neurons against oxidative stress ans cell death. Involved in ADCYAP1/PACAP-induced calcium mobilization and neuroendocrine secretion (By similarity). Plays a role in fibroblast anchorage and redox regulation (By similarity). In gastric smooth muscle, modulates the contraction processes through the regulation of calcium release and MYLK activation (By similarity). In pancreatic islets, involved in the control of glucose homeostasis, con [...] 9606.ENSP00000418915 CDKN2A 167 Cyclin-dependent kinase inhibitor 2A; Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein 9606.ENSP00000418944 PEG10 401 Retrotransposon-derived protein PEG10; Prevents apoptosis in hepatocellular carcinoma (HCC) cells through interaction with SIAH1, a mediator of apoptosis. May also have a role in cell growth promotion and hepatoma formation. Inhibits the TGF-beta signaling by interacting with the TGF-beta receptor ALK1. When overexpressed, induces the formation of cellular extension, such as filipodia in association with ALK1. Involved at the immediate early stage of adipocyte differentiation (By similarity). May bind to the 5'-GCCTGTCTTT-3' DNA sequence of the MB1 domain in the myelin basic protein (M [...] 9606.ENSP00000418960 BRCA1 1884 Breast cancer type 1 susceptibility protein; E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic [...] 9606.ENSP00000418983 C6orf222 652 Uncharacterized protein C6orf222; Chromosome 6 open reading frame 222 9606.ENSP00000418994 SYNPR 285 Synaptoporin; Intrinsic membrane protein of small synaptic vesicles. Probable vesicular channel protein (By similarity); Belongs to the synaptophysin/synaptobrevin family 9606.ENSP00000419000 LSAMP 338 Limbic system-associated membrane protein; Mediates selective neuronal growth and axon targeting. Contributes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for normal growth of the hyppocampal mossy fiber projection (By similarity); Belongs to the immunoglobulin superfamily. IgLON family 9606.ENSP00000419004 NMD3 503 60S ribosomal export protein NMD3; Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit 9606.ENSP00000419005 DIEXF 756 Digestive organ expansion factor homolog; Regulates the p53 pathway to control the expansion growth of digestive organs 9606.ENSP00000419027 PCCB 559 propionyl-CoA carboxylase beta subunit 9606.ENSP00000419038 GFM1 751 Elongation factor G, mitochondrial; Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A- site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mit [...] 9606.ENSP00000419045 GCH1 250 GTP cyclohydrolase 1; Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown; Belongs to the GTP cyclohydrolase I family 9606.ENSP00000419081 CALML4 196 Calmodulin-like protein 4; EF-hand domain containing; Belongs to the calmodulin family 9606.ENSP00000419085 TIGIT 244 T-cell immunoreceptor with Ig and ITIM domains; Binds with high affinity to the poliovirus receptor (PVR) which causes increased secretion of IL10 and decreased secretion of IL12B and suppresses T-cell activation by promoting the generation of mature immunoregulatory dendritic cells; V-set domain containing 9606.ENSP00000419087 NDUFB2 105 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000419088 FAM162A 154 Protein FAM162A; Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues. May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition. May be involved in hypoxia-induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus; however, the involvement of caspases has been reported conflictingly 9606.ENSP00000419101 CACNA2D3 1091 Voltage-dependent calcium channel subunit alpha-2/delta-3; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity); Calcium voltage-gated channel auxiliary alpha2delta subunits 9606.ENSP00000419117 RPL35A 110 60S ribosomal protein L35a; Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site 9606.ENSP00000419124 FAM107A 175 Protein FAM107A; When transfected into cell lines in which it is not expressed, suppresses cell growth. May play a role in tumor development 9606.ENSP00000419126 C10orf88 445 Uncharacterized protein C10orf88; Chromosome 10 open reading frame 88 9606.ENSP00000419153 ZBTB20 741 Zinc finger and BTB domain-containing protein 20; May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity); BTB domain containing 9606.ENSP00000419160 SPATA45 98 Spermatogenesis-associated protein 45; Spermatogenesis associated 45; Belongs to the SPATA45 family 9606.ENSP00000419162 WDR86 482 WD repeat-containing protein 86; WD repeat domain containing 9606.ENSP00000419184 SMYD3 369 Histone-lysine N-methyltransferase SMYD3; Histone methyltransferase. Specifically methylates 'Lys- 4' of histone H3, inducing di- and tri-methylation, but not monomethylation. Also methylates 'Lys-5' of histone H4. Plays an important role in transcriptional activation as a member of an RNA polymerase complex. Binds DNA containing 5'- CCCTCC-3' or 5'-GAGGGG-3' sequences; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family 9606.ENSP00000419185 ONECUT2 504 One cut domain family member 2; Transcriptional activator. Activates the transcription of a number of liver genes such as HNF3B; CUT class homeoboxes and pseudogenes 9606.ENSP00000419194 MSMP 139 Microseminoprotein, prostate associated; Belongs to the beta-microseminoprotein family 9606.ENSP00000419195 CAMKV 501 CaM kinase-like vesicle-associated protein; Does not appear to have detectable kinase activity; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000419199 ASB14 587 Ankyrin repeat and SOCS box protein 14; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000419235 FAM115A 921 TRPM8 channel-associated factor 1; Positively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration inhibition in a TRPM8-dependent manner 9606.ENSP00000419249 RIIAD1 92 RIIa domain-containing protein 1; Regulatory subunit of type II PKA R-subunit domain containing 1 9606.ENSP00000419266 EVX1 407 Homeobox even-skipped homolog protein 1; May play a role in the specification of neuronal cell types; HOXL subclass homeoboxes 9606.ENSP00000419270 PRKRIP1 184 PRKR-interacting protein 1; Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity); Zinc fingers C2H2-type 9606.ENSP00000419279 TTC26 554 Intraflagellar transport protein 56; Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI3 at the ciliary tip and its dissociation from SUFU; Belongs to the IFT56 family 9606.ENSP00000419298 POU5F1B 359 Putative POU domain, class 5, transcription factor 1B; Shows weak transcriptional activator activity; POU class homeoboxes and pseudogenes 9606.ENSP00000419313 TRPC1 793 Short transient receptor potential channel 1; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Seems to be also activated by intracellular calcium store depletion; Transient receptor potential cation channels 9606.ENSP00000419325 SUCLG2 440 Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial; GTP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit 9606.ENSP00000419361 ADCY5 1261 Adenylate cyclase type 5; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates signaling downstream of ADRB1. Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion; Adenylate cyclases 9606.ENSP00000419370 MALSU1 234 Mitochondrial assembly of ribosomal large subunit protein 1; May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome; Belongs to the Iojap/RsfS family 9606.ENSP00000419371 AZI2 392 5-azacytidine-induced protein 2; Adapter protein which binds TBK1 and IKBKE playing a role in antiviral innate immunity. Activates serine/threonine- protein kinase TBK1 and facilitates its oligomerization. Enhances the phosphorylation of NF-kappa-B p65 subunit RELA by TBK1. Promotes TBK1-induced as well as TNF-alpha or PMA-induced activation of NF-kappa-B. Participates in IFNB promoter activation via TICAM1 9606.ENSP00000419378 CLIC3 236 Chloride intracellular channel protein 3; Can insert into membranes and form chloride ion channels. May participate in cellular growth control; Belongs to the chloride channel CLIC family 9606.ENSP00000419395 CDNF 187 Cerebral dopamine neurotrophic factor; Trophic factor for dopamine neurons. Prevents the 6- hydroxydopamine (6-OHDA)-induced degeneration of dopaminergic neurons. When administered after 6-OHDA-lesioning, restores the dopaminergic function and prevents the degeneration of dopaminergic neurons in substantia nigra (By similarity) 9606.ENSP00000419397 ZNF782 699 Zinc finger protein 782; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000419412 SLC4A2 1241 Anion exchange protein 2; Plasma membrane anion exchange protein of wide distribution; Solute carriers 9606.ENSP00000419417 C1orf52 182 UPF0690 protein C1orf52; Chromosome 1 open reading frame 52; Belongs to the UPF0690 family 9606.ENSP00000419422 AGTR1 359 Type-1 angiotensin II receptor; Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system 9606.ENSP00000419425 PPIA 165 Peptidyl-prolyl cis-trans isomerase A; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Belongs to the cyclophilin-type PPIase family. PPIase A subfamily 9606.ENSP00000419446 ADAM9 819 Disintegrin and metalloproteinase domain-containing protein 9; Cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell- matrix interactions and regulate the motility of cells via interactions with integrins; ADAM metallopeptidase domain containing 9606.ENSP00000419449 EIF1 113 Eukaryotic translation initiation factor 1; Necessary for scanning and involved in initiation site selection. Promotes the assembly of 48S ribosomal complexes at the authentic initiation codon of a conventional capped mRNA 9606.ENSP00000419454 RNF183 192 Probable E3 ubiquitin-protein ligase RNF183; May act as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling; Ring finger proteins 9606.ENSP00000419457 NOBOX 691 Homeobox protein NOBOX; Transcription factor which may play a role in oogenesis. Binds preferentially to the DNA sequences 5'-TAATTG-3', 5'-TAGTTG- 3' and 5'-TAATTA-3'; PRD class homeoboxes and pseudogenes 9606.ENSP00000419465 WWTR1 400 WW domain-containing transcription regulator protein 1; Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances [...] 9606.ENSP00000419471 RAD51B 384 DNA repair protein RAD51 homolog 2; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersecti [...] 9606.ENSP00000419475 COMMD2 199 COMM domain-containing protein 2; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B; COMM domain containing 9606.ENSP00000419485 GCSAM 180 Germinal center-associated signaling and motility protein; Involved in the negative regulation of lymphocyte motility. It mediates the migration-inhibitory effects of IL6. Serves as a positive regulator of the RhoA signaling pathway. Enhancement of RhoA activation results in inhibition of lymphocyte and lymphoma cell motility by activation of its downstream effector ROCK. Is a regulator of B-cell receptor signaling, that acts through SYK kinase activation 9606.ENSP00000419494 RYBP 317 RING1 and YY1-binding protein; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1-like complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Component of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one c [...] 9606.ENSP00000419502 LRRC75A 344 Leucine-rich repeat-containing protein 75A; Leucine rich repeat containing 75A 9606.ENSP00000419503 PTPLAD2 232 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4; Catalyzes the third of the four reactions of the long- chain fatty acids elongation cycle. This endoplasmic reticulum- bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precurs [...] 9606.ENSP00000419539 CTAGE4 777 cTAGE family member 4; Tumor-associated antigen; Belongs to the cTAGE family 9606.ENSP00000419542 LRRC55 341 Leucine-rich repeat-containing protein 55; Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium 9606.ENSP00000419591 MAP3K6 1288 Mitogen-activated protein kinase kinase kinase 6; Component of a protein kinase signal transduction cascade. Activates the JNK, but not ERK or p38 kinase pathways 9606.ENSP00000419592 FAM122B 248 Protein FAM122B; Family with sequence similarity 122B; Belongs to the FAM122 family 9606.ENSP00000419599 DPH3 82 DPH3 homolog; Essential for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in elongation factor 2 (EEF2) and which can be ADP- ribosylated by diphtheria toxin and by Pseudomonas exotoxin A (Eta) 9606.ENSP00000419628 NUDT5 219 ADP-sugar pyrophosphatase; Enzyme that can either act as an ADP-sugar pyrophosphatase in absence of diphosphate or catalyze the synthesis of ATP in presence of diphosphate. In absence of diphosphate, hydrolyzes with similar activities various modified nucleoside diphosphates such as ADP-ribose, ADP-mannose, ADP-glucose, 8-oxo-GDP and 8-oxo-dGDP. Can also hydrolyze other nucleotide sugars with low activity. In presence of diphosphate, mediates the synthesis of ATP in the nucleus by catalyzing the conversion of ADP-ribose to ATP and ribose 5- phosphate. Nuclear ATP synthesis takes place [...] 9606.ENSP00000419663 TMEM30C 68 Cell cycle control protein 50C; Transmembrane protein 30C; Belongs to the CDC50/LEM3 family 9606.ENSP00000419665 SSBP1 148 Single-stranded DNA-binding protein, mitochondrial; This protein binds preferentially and cooperatively to ss-DNA. Probably involved in mitochondrial DNA replication. Associates with mitochondrial DNA 9606.ENSP00000419692 RXRA 462 Retinoic acid receptor RXR-alpha; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid. RXRA serves as a common heterodimeric partner for a number of nuclear receptors. In the absence of ligand, the RXR-RAR heterodimers ass [...] 9606.ENSP00000419712 TMEM8C 221 Protein myomaker; Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction. Associates with MYMX to promote myoblast fusion; Belongs to the TMEM8 family 9606.ENSP00000419718 OFCC1 300 Orofacial cleft 1 candidate 1 9606.ENSP00000419740 NSUN4 384 5-methylcytosine rRNA methyltransferase NSUN4; Involved in mitochondrial ribosome assembly. 5- methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4; [...] 9606.ENSP00000419751 GGTLC2 218 Gamma-glutamyltransferase light chain 2; Belongs to the gamma-glutamyltransferase family 9606.ENSP00000419765 BRD9 597 Bromodomain-containing protein 9; Plays a role in chromatin remodeling and regulation of transcription. Acts as a chromatin reader that recognizes and binds acylated histones: binds histones that are acetylated and/or butyrylated; BAF complex 9606.ENSP00000419782 CDK5 292 Cyclin-dependent-like kinase 5; Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3- type G1 cyclins. Phosphorylates SRC, NOS3, VIM/vimentin, p35/CDK5R1, MEF2A, SIPA1L1, SH3GLB1, PXN, PAK1, MCAM/MUC18, SEPT5, SYN1, DNM1, AMPH, SYNJ1, CDK16, RAC1, RHOA, CDC42, TONEBP/NFAT5, MAPT/TAU, MAP1B, histone H1, p53/TP53, HDAC1, APEX1, PTK2/FAK1, huntingtin/HTT, ATM, MAP2, NEFH and NEFM. Regulates several ne [...] 9606.ENSP00000419786 RGAG1 1388 Retrotransposon Gag-like protein 9; Retrotransposon gag domain containing 1 9606.ENSP00000419851 GMPS 693 GMP synthase [glutamine-hydrolyzing]; Involved in the de novo synthesis of guanine nucleotides which are not only essential for DNA and RNA synthesis, but also provide GTP, which is involved in a number of cellular processes important for cell division; Glutamine amidotransferase like class 1 domain containing 9606.ENSP00000419879 CDS2 445 Phosphatidate cytidylyltransferase 2; Provides CDP-diacylglycerol, an important precursor for the synthesis of phosphatidylinositol, phosphatidylglycerol, and cardiolipin 9606.ENSP00000419901 L1TD1 865 LINE1 type transposase domain containing 1; Belongs to the transposase 22 family 9606.ENSP00000419923 KLF6 283 Krueppel-like factor 6; Transcriptional activator (By similarity). Binds a GC box motif. Could play a role in B-cell growth and development; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000419944 PXT1 134 Peroxisomal, testis specific 1 9606.ENSP00000419945 ERVW-1 538 Syncytin-1; This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5 9606.ENSP00000419952 KCNAB1 419 Voltage-gated potassium channel subunit beta-1; Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits. Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members. Promotes the clos [...] 9606.ENSP00000419970 POR 680 NADPH--cytochrome P450 reductase; This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5; Belongs to the NADPH--cytochrome P450 reductase family 9606.ENSP00000419975 PEX5L 626 PEX5-related protein; Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence; Belongs to the peroxisomal targeting signal receptor family 9606.ENSP00000420008 ENSG00000272762 92 Poly(rC)-binding protein 4 9606.ENSP00000420009 HOXB6 224 Homeobox protein Hox-B6; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; Belongs to the Antp homeobox family 9606.ENSP00000420026 LYRM4 96 LYR motif-containing protein 4; Required for nuclear and mitochondrial iron-sulfur protein biosynthesis; LYR motif containing 9606.ENSP00000420037 PIGP 158 Phosphatidylinositol N-acetylglucosaminyltransferase subunit P; Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis; Belongs to the PIGP family 9606.ENSP00000420040 KCNIP2 285 Kv channel-interacting protein 2; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity); EF-hand domain containing 9606.ENSP00000420065 ABHD14B 210 Protein ABHD14B; Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription; Abhydrolase domain containing 9606.ENSP00000420076 SERP1 66 Stress-associated endoplasmic reticulum protein 1; Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins (By similarity); Belongs to the RAMP4 family 9606.ENSP00000420091 SLITRK3 977 SLIT and NTRK-like protein 3; Suppresses neurite outgrowth 9606.ENSP00000420095 ZMYND8 1234 Protein kinase C-binding protein 1; May act as a transcriptional corepressor for KDM5D. Required for KDM5D-mediated down-regulation of diverse metastasis- associated genes; the function seems to involve the recognition of the dual histone signature H3K4me1-H3K14ac. Suppresses prostate cancer cell invasion; Bromodomain containing 9606.ENSP00000420127 RAB9A 201 Ras-related protein Rab-9A; Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000420132 PLSCR2 297 Phospholipid scramblase 2; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system 9606.ENSP00000420140 FAM71F2 309 Protein FAM71F2; Family with sequence similarity 71 member F2 9606.ENSP00000420161 B4GALT4 344 Beta-1,4-galactosyltransferase 4; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids; Belongs to the glycosyltransferase 7 family 9606.ENSP00000420168 GSTA2 222 Glutathione S-transferase A2; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles; Belongs to the GST superfamily. Alpha family 9606.ENSP00000420174 ERVFRD-1 538 Syncytin-2; This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. The interaction with MFSD2A is apparently important for this process 9606.ENSP00000420176 POLE4 117 DNA polymerase epsilon subunit 4; May play a role in allowing polymerase epsilon to carry out its replication and/or repair function; DNA polymerases 9606.ENSP00000420180 CCDC14 912 Coiled-coil domain-containing protein 14; Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization 9606.ENSP00000420182 ENSG00000250588 563 IQCJ-SCHIP1 readthrough transcript protein; May play a role in action potential conduction in myelinated cells through the organization of molecular complexes at nodes of Ranvier and axon initial segments. May also play a role in axon outgrowth and guidance (By similarity) 9606.ENSP00000420194 CASR 1088 Extracellular calcium-sensing receptor; G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol- calcium second messenger system. The G-protein- coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as [...] 9606.ENSP00000420195 SRSF10 262 Serine/arginine-rich splicing factor 10; Splicing factor that in its dephosphorylated form acts as a general repressor of pre-mRNA splicing. Seems to interfere with the U1 snRNP 5'-splice recognition of SNRNP70. Required for splicing repression in M-phase cells and after heat shock. Also acts as a splicing factor that specifically promotes exon skipping during alternative splicing. Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, lead [...] 9606.ENSP00000420200 ADPRH 357 [Protein ADP-ribosylarginine] hydrolase; Catalyzes the reverse reaction of mono-ADP-ribosylation 9606.ENSP00000420211 RGL2 777 Ral guanine nucleotide dissociation stimulator-like 2; Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity) 9606.ENSP00000420213 FLNB 2633 Filamin-B; Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro; Belongs to the filamin family 9606.ENSP00000420237 CPA5 436 M14 carboxypeptidases; Belongs to the peptidase M14 family 9606.ENSP00000420256 CYLC2 348 Cylicin-2; Possible architectural role during spermatogenesis. May be involved in spermatid differentiation 9606.ENSP00000420267 NR6A1 480 Nuclear receptor subfamily 6 group A member 1; Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity); Nuclear hormone receptors 9606.ENSP00000420269 ADH7 394 Alcohol dehydrogenase class 4 mu/sigma chain; Could function in retinol oxidation for the synthesis of retinoic acid, a hormone important for cellular differentiation. Medium-chain (octanol) and aromatic (m-nitrobenzaldehyde) compounds are the best substrates. Ethanol is not a good substrate but at the high ethanol concentrations reached in the digestive tract, it plays a role in the ethanol oxidation and contributes to the first pass ethanol metabolism; Alcohol dehydrogenases 9606.ENSP00000420270 UHMK1 419 Serine/threonine-protein kinase Kist; Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity); Belongs to the protein kinase superfamily. Ser/Thr protein kinase family 9606.ENSP00000420294 PHC3 995 Polyhomeotic-like protein 3; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility; Sterile alpha motif domain containing 9606.ENSP00000420295 PDE6B 854 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta; This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme; Belongs to the cyclic nucleotide phosphodiesterase family 9606.ENSP00000420298 CD200 294 OX-2 membrane glycoprotein; Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues; CD molecules 9606.ENSP00000420306 THOC5 683 THO complex subunit 5 homolog; Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential [...] 9606.ENSP00000420311 RPL23 140 Ribosomal protein L23 9606.ENSP00000420315 ABHD6 337 Monoacylglycerol lipase ABHD6; Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol. Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity); Belongs to the AB hydrolase superfamily 9606.ENSP00000420321 ROBO1 1651 Roundabout homolog 1; Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1. In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex (By similarity). Plays a role in the regulation of cell migration via its intera [...] 9606.ENSP00000420333 ARMC8 659 Armadillo repeat containing 8 9606.ENSP00000420357 RWDD1 243 RWD domain-containing protein 1; Protects DRG2 from proteolytic degradation; Belongs to the RWDD1/GIR2 family 9606.ENSP00000420384 CST7 145 Cystatin-F; Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system; Cystatins, type 2 9606.ENSP00000420387 ATP11A 1134 Probable phospholipid-transporting ATPase IH; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib 9606.ENSP00000420405 FSBP 299 Fibrinogen silencer-binding protein; Transcriptional repressor that down-regulates the expression of the fibrinogen gamma chain. Represses transcription of GSK3B gene promoter via its interaction with APBA1 9606.ENSP00000420418 ZNF398 642 Zinc finger protein 398; Function as a transcriptional activator; Zinc fingers C2H2-type 9606.ENSP00000420443 CNIH4 139 Protein cornichon homolog 4; Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery; Belongs to the cornichon family 9606.ENSP00000420465 RNF182 247 E3 ubiquitin-protein ligase RNF182; E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway; Ring finger proteins 9606.ENSP00000420477 NACAD 1562 NAC-alpha domain-containing protein 1; May prevent inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). May bind to nascent polypeptide chains as they emerge from the ribosome and block their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. May also reduce the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity) 9606.ENSP00000420484 OARD1 152 O-acetyl-ADP-ribose deacetylase 1; Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Catalyzes the deacylation of O- acetyl-ADP-ribose, O-propionyl-ADP-ribose and O-butyryl-ADP- ribose, yielding ADP-ribose plus acetate, propionate and butyrate, respectively 9606.ENSP00000420487 ENSG00000114786 509 ABHD14A-ACY1 readthrough 9606.ENSP00000420494 LAT2 243 Linker for activation of T-cells family member 2; Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2 9606.ENSP00000420502 OR2A7 310 Olfactory receptor 2A7; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000420514 BAG1 345 BAG family molecular chaperone regulator 1; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70. Inhibits the pro-apoptotic function of PPP1R15A, and has anti-apoptotic activity. Markedly increases the anti-cell death f [...] 9606.ENSP00000420525 TFR2 801 Transferrin receptor protein 2; Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation; Belongs to the peptidase M28 family. M28B subfamily 9606.ENSP00000420588 TFAM 246 Transcription factor A, mitochondrial; Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation. Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and c [...] 9606.ENSP00000420608 EMC1 993 ER membrane protein complex subunit 1; Belongs to the EMC1 family 9606.ENSP00000420610 C6orf201 140 Uncharacterized protein C6orf201; Chromosome 6 open reading frame 201 9606.ENSP00000420612 TIPARP 657 TCDD-inducible poly [ADP-ribose] polymerase; Poly [ADP-ribose] polymerase using NAD(+) as a substrate to transfer ADP-ribose onto glutamic acid residues of a protein acceptor; repeated rounds of ADP-ribosylation leads to the formation of poly(ADPribose) chains on the protein, thereby altering the function of the target protein. May play a role in the adaptive response to chemical exposure (TCDD) and thereby mediates certain effects of the chemicals (By similarity); Poly(ADP-ribose) polymerases 9606.ENSP00000420616 DP2 446 Transcription factor Dp-2; Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5'-TTTC[CG]CGC-3', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The TFDP2:E2F complex functions in the control of cell-cycle progression from G1 to S phase. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters 9606.ENSP00000420617 MFN1 741 Mitofusin-1; Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion. Membrane clustering requires GTPase activity. It may involve a major rearrangement of the coiled coil domains. Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events. Overexpression induces the formation of mitochondrial networks (in vitro). Has low GTPase activity 9606.ENSP00000420658 TMEM14B 151 Transmembrane protein 14B 9606.ENSP00000420659 KLHL29 875 Kelch-like protein 29; Kelch like family member 29; BTB domain containing 9606.ENSP00000420682 QTRTD1 427 Queuine tRNA-ribosyltransferase accessory subunit 2; Non-catalytic subunit of the queuine tRNA- ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1- yl)amino)methyl)-7-deazaguanosine) 9606.ENSP00000420686 PLCXD2 305 PI-PLC X domain-containing protein 2; Phosphatidylinositol specific phospholipase C X domain containing 2 9606.ENSP00000420714 MRPS14 128 Mitochondrial ribosomal protein S14; Belongs to the universal ribosomal protein uS14 family 9606.ENSP00000420716 C1orf228 440 Uncharacterized protein C1orf228; Chromosome 1 open reading frame 228 9606.ENSP00000420723 KRTAP5-8 187 Keratin-associated protein 5-8; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000420727 ZNF181 571 Zinc finger protein 181; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000420826 PRB1 198 Basic salivary proline-rich protein 1; Proline rich protein BstNI subfamily 1 9606.ENSP00000420840 PCDHA1 950 Protocadherin alpha-1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000420849 NIM1K 436 NIM1 serine/threonine protein kinase 9606.ENSP00000420854 EFCAB12 572 EF-hand calcium-binding domain-containing protein 12; EF-hand calcium binding domain 12 9606.ENSP00000420875 RMND5B 393 Protein RMD5 homolog B; Required for meiotic nuclear division 5 homolog B 9606.ENSP00000420914 HSD17B4 761 Peroxisomal multifunctional enzyme type 2; Bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. Catalyzes the formation of 3- ketoacyl-CoA intermediates from both straight-chain and 2-methyl- branched-chain fatty acids; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000420919 TMEM150C 249 Transmembrane protein 150C; Component of a mechanosensitive cation channel. Confers mechanically activated (MA) currents with slow inactivation kinetics. May contribute to proprioception; Belongs to the DRAM/TMEM150 family 9606.ENSP00000420927 PDK2 407 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial; Kinase that plays a key role in the regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular [...] 9606.ENSP00000420939 SEPP1 381 Selenoprotein P; Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis 9606.ENSP00000420949 C4orf36 117 Uncharacterized protein C4orf36; Chromosome 4 open reading frame 36 9606.ENSP00000420976 DLEU7 160 Leukemia-associated protein 7; Deleted in lymphocytic leukemia, 7 9606.ENSP00000421048 SPINK13 94 Serine protease inhibitor Kazal-type 13; May be a serine protease inhibitor (By similarity). Essential for sperm maturation and fertility. Inhibits sperm acrosome reaction, protecting sperm from premature reaction (By similarity); Serine peptidase inhibitors, Kazal type 9606.ENSP00000421076 ATP5L2 100 ATP synthase subunit g 2, mitochondrial; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the ce [...] 9606.ENSP00000421131 FAM90A26 464 Putative protein FAM90A5P; Family with sequence similarity 90 member A26; Belongs to the FAM90 family 9606.ENSP00000421142 TRIM60 471 Tripartite motif containing 60; Belongs to the TRIM/RBCC family 9606.ENSP00000421169 BEND4 534 BEN domain containing 4 9606.ENSP00000421172 AWAT2 333 Acyl-CoA wax alcohol acyltransferase 2; Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl- CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo 9606.ENSP00000421180 MAML3 1138 Mastermind-like protein 3; Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1; Belongs to the mastermind family 9606.ENSP00000421185 MGAT4D 374 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D; May play a role in male spermatogenesis. In vitro acts as inhibitor of MGAT1 activity causing cell surface proteins to carry mainly high mannose N-glycans. The function is mediated by its lumenal domain and occurs specifically in the Golgi. A catalytic glucosyltransferase activity is not detected. May be involved in regulation of Sertoli-germ cell interactions during specific stages of spermatogenesis; Belongs to the glycosyltransferase 54 family 9606.ENSP00000421191 IGSF22 1326 Immunoglobulin superfamily, member 22; Fibronectin type III domain containing 9606.ENSP00000421226 CLDND1 253 Claudin domain containing 1 9606.ENSP00000421232 ENSG00000250641 382 HCG43720, isoform CRA_a; Lymphocyte antigen 6 complex locus protein G6f; Megakaryocyte-enhanced gene transcript 1 protein 9606.ENSP00000421246 ZNF131 589 Zinc finger protein 131; Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity). May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling; BTB domain containing 9606.ENSP00000421258 ZNF154 437 Zinc finger protein 154; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000421275 SLC10A7 358 Sodium/bile acid cotransporter 7; Solute carrier family 10 member 7; Belongs to the unknown BART superfamily-1 (UBS1) (TC 2.A.93) family 9606.ENSP00000421280 MYO10 2058 Unconventional myosin-X; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as plus end-directed motor. The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. May play a role in neurite outgrowth and axon guidance. In hippocampal neurons i [...] 9606.ENSP00000421294 SH3D21 645 SH3 domain containing 21 9606.ENSP00000421315 ENSG00000250424 449 Uncharacterized protein; Belongs to the MIP/aquaporin (TC 1.A.8) family 9606.ENSP00000421326 ATP2C1 973 Calcium-transporting ATPase type 2C member 1; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily 9606.ENSP00000421339 SLCO6A1 719 Solute carrier organic anion transporter family member 6A1 9606.ENSP00000421377 PIEZO2 2752 Piezo-type mechanosensitive ion channel component 2; Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents. Required for Merkel-cell mechanotransduction. Plays a major role in light- touch mechanosensation; Armadillo-like helical domain containing 9606.ENSP00000421380 SNF8 258 Vacuolar-sorting protein SNF8; Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with [...] 9606.ENSP00000421405 ROPN1L 230 Ropporin-1-like protein; Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation 9606.ENSP00000421489 TIGD5 642 Tigger transposable element-derived protein 5; Helix-turn-helix CENPB type domain containing; DNA transposon derived genes 9606.ENSP00000421491 XRCC4 336 DNA repair protein XRCC4; Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends 9606.ENSP00000421544 PCBD2 130 Pterin-4-alpha-carbinolamine dehydratase 2; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity) 9606.ENSP00000421557 GPR33 333 Probable G-protein coupled receptor 33; Orphan receptor; could be a chemoattractant receptor; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000421566 XPNPEP1 666 Xaa-Pro aminopeptidase 1; Contributes to the degradation of bradykinin. Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro; Aminopeptidases 9606.ENSP00000421586 GOLGA6L4 574 Golgin subfamily A member 6-like protein 4; Golgin A6 family-like 4; Belongs to the GOLGA6 family 9606.ENSP00000421592 ALYREF 264 THO complex subunit 4; Export adapter involved in nuclear export of spliced and unspliced mRNA. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway). Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region [...] 9606.ENSP00000421686 SPDYE2 402 Speedy protein E2; speedy/RINGO cell cycle regulator family member E2; Belongs to the Speedy/Ringo family 9606.ENSP00000421689 CSNK1A1 365 Casein kinase I isoform alpha; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates CTNNB1 at 'Ser-45'. May phosphorylate PER1 and PER2. May play a role in segregating chromosomes during mitosis. May play a role in keratin cytoskeleton disassembly and thereby, it may regulate epithelial cell migration 9606.ENSP00000421725 GC 493 Vitamin D-binding protein; Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation 9606.ENSP00000421736 CR1L 569 Complement component receptor 1-like protein; Complement C3b/C4b receptor 1 like; Belongs to the receptors of complement activation (RCA) family 9606.ENSP00000421799 ENSG00000257184 112 Uncharacterized protein 9606.ENSP00000421801 HGFAC 662 Hepatocyte growth factor activator; Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form; Belongs to the peptidase S1 family 9606.ENSP00000421828 GABRA2 451 Gamma-aminobutyric acid receptor subunit alpha-2; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000421842 ANAPC13 74 Anaphase-promoting complex subunit 13; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains 9606.ENSP00000421853 RANBP3L 490 Ran-binding protein 3-like; Nuclear export factor for BMP-specific SMAD1/5/8 that plays a critical role in terminating BMP signaling and regulating mesenchymal stem cell differentiation by blocking osteoblast differentiation to promote myogenic differention. Directly recognizes dephosphorylated SMAD1/5/8 and mediates their nuclear export in a Ran-dependent manner 9606.ENSP00000421861 MAGED4B 757 Melanoma antigen family D, 4B; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex; MAGE family 9606.ENSP00000421868 ENSG00000250709 502 CCDC169-SOHLH2 readthrough 9606.ENSP00000421871 DCANP1 244 Dendritic cell nuclear protein 1; Binds with and transactivates the corticotropin- releasing hormone (CRH) promoter 9606.ENSP00000421915 ZNF672 452 Zinc finger protein 672; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000421917 HMGXB3 1292 HMG domain-containing protein 3; Non-canonical high mobility group 9606.ENSP00000421922 LRPAP1 357 Alpha-2-macroglobulin receptor-associated protein; Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway; Belongs to the alpha-2-MRAP family 9606.ENSP00000421965 PRRC1 462 Protein PRRC1; Proline rich coiled-coil 1; Belongs to the PRRC1 family 9606.ENSP00000421981 PAQR3 311 Progestin and adipoQ receptor family member 3; Functions as a spatial regulator of RAF1 kinase by sequestrating it to the Golgi; Progestin and adipoQ receptor family 9606.ENSP00000421985 FNIP1 1166 Folliculin-interacting protein 1; Acts as a co-chaperone of HSP90AA1. Inhibits the ATPase activity of HSP90AA1 leading to reduction in its chaperone activity. Facilitates the binding of client protein FLCN to HSP90AA1. Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1; Belongs to the FNIP family 9606.ENSP00000421986 PSG7 419 Pregnancy specific beta-1-glycoprotein 7; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000422007 ACTN3 944 Alpha-actinin-3; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein; Actinins 9606.ENSP00000422037 NFXL1 911 NF-X1-type zinc finger protein NFXL1; Nuclear transcription factor, X-box binding like 1; Belongs to the NFX1 family 9606.ENSP00000422067 ENSG00000272414 351 FAM47E-STBD1 readthrough 9606.ENSP00000422097 USP17L25 530 Ubiquitin specific peptidase 17-like family member 25; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000422131 FAM193B 822 Protein FAM193B; Family with sequence similarity 193 member B; Belongs to the FAM193 family 9606.ENSP00000422168 SH3BP2 618 SH3 domain-binding protein 2; Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism; Pleckstrin homology domain containing 9606.ENSP00000422185 SORCS2 1159 Sortilin related VPS10 domain containing receptor 2; Belongs to the VPS10-related sortilin family. SORCS subfamily 9606.ENSP00000422188 TTC23L 361 Tetratricopeptide repeat domain 23 like 9606.ENSP00000422216 USP17L21 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 21; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000422338 FAM173B 233 Protein FAM173B; Seven-beta-strand methyltransferase motif containing; Belongs to the FAM173 family 9606.ENSP00000422354 GSTCD 633 Glutathione S-transferase C-terminal domain containing; Belongs to the GSTCD family 9606.ENSP00000422375 NUDT16 227 U8 snoRNA-decapping enzyme; RNA-binding and decapping enzyme that catalyzes the cleavage of the cap structure of snoRNAs and mRNAs in a metal- dependent manner. Part of the U8 snoRNP complex that is required for the accumulation of mature 5.8S and 28S rRNA. Has diphosphatase activity and removes m7G and/or m227G caps from U8 snoRNA and leaves a 5'monophosphate on the RNA. Catalyzes also the cleavage of the cap structure on mRNAs. Does not hydrolyze cap analog structures like 7-methylguanosine nucleoside triphosphate (m7GpppG). Also hydrolysis m7G- and m227G U3-capped RNAs but with less [...] 9606.ENSP00000422392 LSM6 80 U6 snRNA-associated Sm-like protein LSm6; Component of LSm protein complexes, which are involved in RNA processing and may function in a chaperone-like manner, facilitating the efficient association of RNA processing factors with their substrates. Component of the cytoplasmic LSM1-LSM7 complex, which is thought to be involved in mRNA degradation by activating the decapping step in the 5'-to-3' mRNA decay pathway. Component of the nuclear LSM2-LSM8 complex, which is involved in splicing of nuclear mRNAs. LSM2-LSM8 associates with multiple snRNP complexes containing the U6 snRNA (U4/U6 d [...] 9606.ENSP00000422431 TMEM158 300 Transmembrane protein 158; Receptor for brain injury-derived neurotrophic peptide (BINP), a synthetic 13-mer peptide 9606.ENSP00000422449 ENSG00000272297 98 annotation not available 9606.ENSP00000422464 PDGFC 345 Platelet-derived growth factor C; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen and chemoattractant for cells of mesenchymal origin. Required for normal skeleton formation during embryonic development, especially for normal development of the craniofacial skeleton and for normal development of the palate. Required for normal skin morphogenesis during embryonic development. Plays an important role in wound healing, where it appears to be involved in three stages: inflamma [...] 9606.ENSP00000422473 TMEM33 247 Transmembrane protein 33; Acts as a regulator of the tubular endoplasmic reticulum (ER) network. Suppresses the RTN3/4-induced formation of the ER tubules. Positively regulates PERK-mediated and IRE1-mediated unfolded protein response signaling 9606.ENSP00000422488 ESRRB 508 Steroid hormone receptor ERR2; Isoform 3: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOMES [...] 9606.ENSP00000422496 TTC39B 682 Tetratricopeptide repeat domain containing; Belongs to the TTC39 family 9606.ENSP00000422533 LPHN3 1469 Adhesion G protein-coupled receptor L3; Plays a role in cell-cell adhesion and neuron guidance via its interactions with FLRT2 and FLRT3 that are expressed at the surface of adjacent cells. Plays a role in the development of glutamatergic synapses in the cortex. Important in determining the connectivity rates between the principal neurons in the cortex; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily 9606.ENSP00000422554 ADAMTS12 1594 A disintegrin and metalloproteinase with thrombospondin motifs 12; Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties; ADAM metallopeptidases with thrombospondin type 1 motif 9606.ENSP00000422581 TRIML2 387 Probable E3 ubiquitin-protein ligase TRIML2; Tripartite motif family like 2 9606.ENSP00000422591 SLIT2 1529 Slit homolog 2 protein; Thought to act as molecular guidance cue in cellular migration, and function appears to be mediated by interaction with roundabout homolog receptors. During neural development involved in axonal navigation at the ventral midline of the neural tube and projection of axons to different regions. SLIT1 and SLIT2 seem to be essential for midline guidance in the forebrain by acting as repulsive signal preventing inappropriate midline crossing by axons projecting from the olfactory bulb. In spinal chord development may play a role in guiding commissural axons once they [...] 9606.ENSP00000422607 ACSL1 698 Long-chain-fatty-acid--CoA ligase 1; Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses palmitoleate, oleate and linoleate; Acyl-CoA synthetase family 9606.ENSP00000422621 USP17L17 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 17; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000422626 LARP7 589 La-related protein 7; Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation; La ribonucleoprotein domain containing 9606.ENSP00000422753 DDX41 622 Probable ATP-dependent RNA helicase DDX41; Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing; Belongs to the DEAD box helicase family. DDX41 subfamily 9606.ENSP00000422769 DNAH10OS 163 Uncharacterized protein DNAH10OS; Dynein axonemal heavy chain 10 opposite strand 9606.ENSP00000422887 USP17L30 530 Ubiquitin specific peptidase 17-like family member 30; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000422907 GTF2H2C 395 General transcription factor IIH subunit 2-like protein; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II 9606.ENSP00000422941 ENSG00000248592 372 Store-operated calcium entry regulator STIMATE; Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER. SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts by interacting with STIM1, promoting STIM1 conformational switch. Involved in STIM1 relocalization to ER-PM junctions. Contributes to the maintenance and reorganization of store- dependent ER-PM junctions 9606.ENSP00000422947 TRIM34 488 Tripartite motif containing 34; May function as antiviral protein and may contribute to the defense against retroviral infections; Belongs to the TRIM/RBCC family 9606.ENSP00000422969 USP17L29 530 Ubiquitin specific peptidase 17-like family member 29; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000423014 OCIAD2 154 OCIA domain containing 2 9606.ENSP00000423067 WDR36 951 WD repeat-containing protein 36; Involved in the nucleolar processing of SSU 18S rRNA. Involved in T-cell activation and highly coregulated with IL2; UTPb subcomplex 9606.ENSP00000423099 CXorf40A 158 Protein CXorf40A; May have an important role of cell protection in inflammation reaction 9606.ENSP00000423115 USP17L22 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 22; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000423159 GOLGA8O 632 Golgin A8 family member O; Belongs to the GOLGA6 family 9606.ENSP00000423190 AADAT 429 Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial; Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino- group acceptors, with a preference for 2-oxoglutarate, 2- oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro) 9606.ENSP00000423211 USP17L27 530 Ubiquitin specific peptidase 17-like family member 27; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection; Belongs to the peptidase C19 family. USP17 subfamily 9606.ENSP00000423276 ZCCHC10 192 Zinc finger CCHC-type containing 10 9606.ENSP00000423309 ENSG00000270249 276 Uncharacterized protein 9606.ENSP00000423313 GALNTL6 601 Polypeptide N-acetylgalactosaminyltransferase-like 6; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily 9606.ENSP00000423333 USP51 711 Ubiquitin carboxyl-terminal hydrolase 51; Specifically deubiquitinates 'Lys-14' (H2AK13Ub) and 'Lys-16'(H2AK15Ub) of histone H2A regulating the DNA damage response at double-strand breaks (DSBs). USP51 is recruited to chromatin after DNA damage and regulates the dynamic assembly/disassembly of TP53BP1 and BRCA1. Exhibits also activity for 'Lys-27' or 'Lys-63'-linked di-ubiquitin 9606.ENSP00000423366 KIAA1211 1233 Uncharacterized protein KIAA1211; KIAA1211 9606.ENSP00000423390 USP26 913 Ubiquitin carboxyl-terminal hydrolase 26; Involved in the ubiquitin-dependent proteolytic pathway in conjunction with the 26S proteasome (By similarity). Deubiquitinates the androgen receptor and regulates the androgen receptor signaling pathway; Belongs to the peptidase C19 family 9606.ENSP00000423391 RFPL4B 263 Ret finger protein like 4B; Ring finger proteins 9606.ENSP00000423399 MRPL36 103 Mitochondrial ribosomal protein L36; Belongs to the bacterial ribosomal protein bL36 family 9606.ENSP00000423463 LY75-CD302 1873 LY75-CD302 readthrough 9606.ENSP00000423503 USP17L18 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 18; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000423505 TTC29 501 Tetratricopeptide repeat domain containing 9606.ENSP00000423541 SV2C 727 Synaptic vesicle glycoprotein 2C; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity) 9606.ENSP00000423550 CSB-PGBD3 1061 Chimeric ERCC6-PGBD3 protein; Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non [...] 9606.ENSP00000423563 H2AFY 372 Core histone macro-H2A.1; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation [...] 9606.ENSP00000423567 CCDC153 210 Coiled-coil domain containing 153; Belongs to the UPF0610 family 9606.ENSP00000423600 MTX3 251 Metaxin-3; Could function in transport of proteins into the mitochondrion; Belongs to the metaxin family 9606.ENSP00000423602 DAPP1 280 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide; May act as a B-cell-associated adapter that regulates B- cell antigen receptor (BCR)-signaling downstream of PI3K; Pleckstrin homology domain containing 9606.ENSP00000423630 FBXL7 491 F-box/LRR-repeat protein 7; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of AURKA during mitosis, causing mitotic arrest; F-box and leucine rich repeat proteins 9606.ENSP00000423660 SH3TC2 1288 SH3 domain and tetratricopeptide repeats 2 9606.ENSP00000423665 CDK18 504 Cyclin-dependent kinase 18; May play a role in signal transduction cascades in terminally differentiated cells; Cyclin dependent kinases 9606.ENSP00000423673 NDUFA13 144 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in [...] 9606.ENSP00000423674 GNPDA1 289 Glucosamine-6-phosphate isomerase 1; Seems to trigger calcium oscillations in mammalian eggs. These oscillations serve as the essential trigger for egg activation and early development of the embryo (By similarity); Belongs to the glucosamine/galactosamine-6-phosphate isomerase family 9606.ENSP00000423777 USP17L28 530 Ubiquitin specific peptidase 17-like family member 28; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000423812 CHAD 359 Chondroadherin; Promotes attachment of chondrocytes, fibroblasts, and osteoblasts. This binding is mediated (at least for chondrocytes and fibroblasts) by the integrin alpha(2)beta(1). May play an important role in the regulation of chondrocyte growth and proliferation (By similarity); Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily 9606.ENSP00000423820 ZFP62 900 Zinc finger protein 62 homolog; May play a role in differentiating skeletal muscle; Zinc fingers C2H2-type 9606.ENSP00000423822 GPX8 209 Glutathione peroxidase 8; Belongs to the glutathione peroxidase family 9606.ENSP00000423881 PACRGL 248 PACRG-like protein; Armadillo-like helical domain containing 9606.ENSP00000423897 KLHL5 755 Kelch-like protein 5; Kelch like family member 5; BTB domain containing 9606.ENSP00000423917 NPY5R 445 Neuropeptide Y receptor type 5; Receptor for neuropeptide Y and peptide YY. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. Seems to be associated with food intake. Could be involved in feeding disorders 9606.ENSP00000423933 THUMPD2 503 THUMP domain-containing protein 2; Seven-beta-strand methyltransferase motif containing; Belongs to the methyltransferase superfamily 9606.ENSP00000424007 ENSG00000253251 250 CDNA FLJ26957 fis, clone SLV00486; Uncharacterized protein 9606.ENSP00000424015 FRG2 279 Protein FRG2; FSHD region gene 2 9606.ENSP00000424040 TAS2R50 299 Taste receptor type 2 member 50; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000424058 SPDYE2B 402 Speedy protein E2B; speedy/RINGO cell cycle regulator family member E2B 9606.ENSP00000424077 USP17L23 183 Putative ubiquitin carboxyl-terminal hydrolase 17-like protein 23; Ubiquitin specific peptidase 17-like family member 23 9606.ENSP00000424079 NHSL2 844 NHS-like protein 2; NHS like 2 9606.ENSP00000424123 ELOVL7 281 Elongation of very long chain fatty acids protein 7; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0 [...] 9606.ENSP00000424126 MCTP1 999 Multiple C2 and transmembrane domain-containing protein 1; Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity; Belongs to the MCTP family 9606.ENSP00000424176 WAP7 179 EPPIN-WFDC6 readthrough; Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility 9606.ENSP00000424183 LAMTOR3 124 Ragulator complex protein LAMTOR3; As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP ki [...] 9606.ENSP00000424191 SMUG1 270 Single-strand selective monofunctional uracil DNA glycosylase; Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5- formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5- hydroxycytosine and 5-form [...] 9606.ENSP00000424198 KLHL2 597 Kelch-like protein 2; Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, such as NPTXR, leading most often to their proteasomal degradation (By similarity). Responsible for degradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4. Plays a role in the reorganization of the actin cytoskeleton. Promotes growth of cell projections in oligodendrocyte precursors; BTB domain containing 9606.ENSP00000424226 TENM3 2699 Teneurin-3; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Promotes axon guidance and homophilic cell adhesion. Plays a role in the development of the visual pathway; regulates the formation in ipsilateral retinal mapping to both the dorsal lateral geniculate nucleus (dLGN) and the superior colliculus (SC). May be involved in the differentiation of the fibroblast-like cells in the superficial layer of mandibular condylar cartilage into chondrocytes. May function as a cellular signal transducer (By similarity) 9606.ENSP00000424243 EYS 3144 Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells; Belongs to the EYS family 9606.ENSP00000424261 PTTG2 191 Securin-2; Pituitary tumor-transforming 2; Belongs to the securin family 9606.ENSP00000424328 MRPS30 439 Mitochondrial ribosomal protein S30 9606.ENSP00000424363 ENSG00000251569 544 Bardet-Biedl syndrome 5 protein; Uncharacterized protein 9606.ENSP00000424381 LMF2 707 Lipase maturation factor 2; Involved in the maturation of specific proteins in the endoplasmic reticulum. May be required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity) 9606.ENSP00000424400 SPATS1 300 Spermatogenesis-associated serine-rich protein 1; Spermatogenesis associated serine rich 1 9606.ENSP00000424417 PLRG1 514 Pleiotropic regulator 1; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing 9606.ENSP00000424474 SAMD14 445 Sterile alpha motif domain containing 14 9606.ENSP00000424497 SH3RF2 729 Putative E3 ubiquitin-protein ligase SH3RF2; Inhibits PPP1CA phosphatase activity. May be a E3 ubiquitin-protein ligase (Potential). May play a role in cardiac function; Belongs to the SH3RF family 9606.ENSP00000424501 HTN1 57 Histatin-1; Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities; Belongs to the histatin/statherin family 9606.ENSP00000424544 TUSC3 348 Tumor suppressor candidate 3; Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfide [...] 9606.ENSP00000424565 CDHR2 1310 Cadherin-related family member 2; Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR5 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation. May also play a role in cell-cell adhesion and contact inhibition in epithelial cells; Cadhe [...] 9606.ENSP00000424566 SLC35A4 324 Probable UDP-sugar transporter protein SLC35A4; Solute carrier family 35 member A4; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily 9606.ENSP00000424571 FBN2 2912 Fibrillin-2; Fibrillin-2: Fibrillins are structural components of 10- 12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively; Belongs to the fibrillin family 9606.ENSP00000424595 PRPS1L1 318 Ribose-phosphate pyrophosphokinase 3; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis 9606.ENSP00000424598 DEFB4B 64 Beta-defensin 4A; Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to both human and mouse CCR6 and induce chemotactic activity of CCR6-expressing cells; Belongs to the beta-defensin family. LAP/TAP subfamily 9606.ENSP00000424607 TAAR9 348 Trace amine-associated receptor 9; Orphan receptor. Could be a receptor for trace amines. Trace amines are biogenic amines present in very low levels in mammalian tissues. Although some trace amines have clearly defined roles as neurotransmitters in invertebrates, the extent to which they function as true neurotransmitters in vertebrates has remained speculative. Trace amines are likely to be involved in a variety of physiological functions that have yet to be fully understood 9606.ENSP00000424707 TMEM167A 72 Protein kish-A; Involved in the early part of the secretory pathway 9606.ENSP00000424708 ENSG00000251012 68 annotation not available 9606.ENSP00000424711 CLRN2 232 Clarin-2; Clarin 2; Clarins 9606.ENSP00000424737 ZGRF1 2104 Protein ZGRF1; Zinc finger GRF-type containing 1; UPF1 like RNA helicases 9606.ENSP00000424757 NEK1 1286 Serine/threonine-protein kinase Nek1; Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (By similarity). Involved in DNA damage checkpoint control and for proper DNA damage repair. In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death. May be implicated in the control of meiosis (By similarity). Involved in cilium assembly 9606.ENSP00000424765 AMOTL2 837 Angiomotin-like protein 2; Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC; Belongs to the angiomotin family 9606.ENSP00000424768 ENSG00000251349 341 MSANTD3-TMEFF1 readthrough 9606.ENSP00000424827 NEDD4 1319 E3 ubiquitin-protein ligase NEDD4; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates 'Lys-63' in target proteins. Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes. [...] 9606.ENSP00000424838 DDX4 724 Probable ATP-dependent RNA helicase DDX4; ATP-dependent RNA helicase required during spermatogenesis. Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Involved in the secondary piRNAs metabolic process, the production of piRNAs in fetal male germ ce [...] 9606.ENSP00000424870 SRP19 144 Signal recognition particle 19 kDa protein; Signal-recognition-particle assembly, binds directly to 7S RNA and mediates binding of the 54 kDa subunit of the SRP 9606.ENSP00000424896 CNOT6L 555 CCR4-NOT transcription complex subunit 6-like; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in the deadenylation-dependent degradation of mRNAs through the 3' [...] 9606.ENSP00000424951 ENSG00000187695 572 Uncharacterized protein FLJ43738 9606.ENSP00000425040 CCSER1 900 Coiled-coil serine rich protein 1 9606.ENSP00000425048 DTWD2 298 DTW domain containing 2 9606.ENSP00000425092 LUC7L3 432 Luc7-like protein 3; Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing; Belongs to the Luc7 family 9606.ENSP00000425093 CDH18 790 Cadherin-18; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000425107 ATG12 140 Ubiquitin-like protein ATG12; Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes 9606.ENSP00000425133 SMG7 1178 Protein SMG7; Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation 9606.ENSP00000425166 C1orf216 229 UPF0500 protein C1orf216; Chromosome 1 open reading frame 216 9606.ENSP00000425261 COX18 334 Mitochondrial inner membrane protein COX18; Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome c oxidase. Plays a central role in the translocation and export of the C-terminal part of the COX2 protein into the mitochondrial intermembrane space; Mitochondrial respiratory chain complex assembly factors 9606.ENSP00000425375 USP17L24 530 Ubiquitin specific peptidase 17-like family member 24; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000425394 ABLIM3 683 Actin-binding LIM protein 3; May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity; LIM domain containing 9606.ENSP00000425421 SATL1 632 Spermidine/spermine N1-acetyl transferase like 1; GCN5 related N-acetyltransferases 9606.ENSP00000425487 INPP4B 924 Type II inositol 3,4-bisphosphate 4-phosphatase; Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4- trisphosphate and inositol 1,4-bisphosphate 9606.ENSP00000425493 CAGE1 839 Cancer-associated gene 1 protein; Cancer antigen 1 9606.ENSP00000425497 ENSG00000270386 693 UDP-glucuronosyltransferase 2A1; UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus; Belongs to the UDP-glycosyltransferase family 9606.ENSP00000425556 PALLD 1123 Palladin; Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have [...] 9606.ENSP00000425561 EIF4E 248 Eukaryotic translation initiation factor 4E 9606.ENSP00000425582 USP17L19 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 19; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000425587 EXOC3 745 Exocyst complex component 3; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane 9606.ENSP00000425634 HARS 509 Histidine--tRNA ligase, cytoplasmic; Cytoplasmic histidine--tRNA ligase (Probable). Plays a role in axon guidance; Aminoacyl tRNA synthetases, Class II 9606.ENSP00000425658 ANKRD50 1429 Ankyrin repeat domain-containing protein 50; Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1; Ankyrin repeat domain containing 9606.ENSP00000425715 CCDC149 529 Coiled-coil domain containing 149 9606.ENSP00000425759 COX7C 63 Cytochrome c oxidase subunit 7C, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000425786 C4orf22 250 Uncharacterized protein C4orf22; Chromosome 4 open reading frame 22 9606.ENSP00000425809 PGM3 570 Phosphoacetylglucosamine mutase; Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation 9606.ENSP00000425840 RNF150 438 Ring finger protein 150 9606.ENSP00000425864 MEF2BNB 119 BLOC-1-related complex subunit 8; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor 9606.ENSP00000425955 USP17L5 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 5; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000425961 SPINK2 134 Serine peptidase inhibitor, Kazal type 2 9606.ENSP00000425979 DROSHA 1374 Ribonuclease 3; Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3' and 5' strands of a stem-loop in pri-miRNAs (processing center 11 bp from the dsRNA- ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. Invo [...] 9606.ENSP00000425996 C7orf73 47 Short transmembrane mitochondrial protein 1; Chromosome 7 open reading frame 73 9606.ENSP00000426022 GNGT2 69 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000426033 HELT 242 Hairy and enhancer of split-related protein HELT; Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGCG-3'; Belongs to the HEY family 9606.ENSP00000426067 C5orf28 215 Transmembrane protein 267; Chromosome 5 open reading frame 28 9606.ENSP00000426070 TRPC7 862 Short transient receptor potential channel 7; Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion; Transient receptor potential cation channels 9606.ENSP00000426083 ADH1C 375 Alcohol dehydrogenase 1C, gamma polypeptide 9606.ENSP00000426103 MIB2 1070 E3 ubiquitin-protein ligase MIB2; E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors; Ankyrin repeat domain containing 9606.ENSP00000426119 CRIP2 282 Cysteine rich protein 2; LIM domain containing 9606.ENSP00000426120 GRAMD3 447 GRAM domain-containing protein 2B; GRAM domain containing 3 9606.ENSP00000426159 C6orf223 242 Uncharacterized protein C6orf223; Chromosome 6 open reading frame 223 9606.ENSP00000426167 OSTC 171 Oligosaccharyltransferase complex subunit OSTC; May act as substrate-specific component of the N- oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X- Ser/Thr consensus motif in nascent polypeptide chains. May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1; Belongs to the OSTC family 9606.ENSP00000426174 CCDC169 241 Coiled-coil domain containing 169 9606.ENSP00000426191 RAD17 681 Cell cycle checkpoint protein RAD17; Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage. Has a weak ATPase activity required for binding to chromatin. Participates in the recruitment of the RAD1-RAD9- HUS1 complex and RHNO1 onto chromatin, and in CHEK1 activation. May also serve as a sensor of DNA replication progression, and may be involved in homologous recombination; Belongs to the rad17/RAD24 family 9606.ENSP00000426237 SERINC5 461 Serine incorporator 5; Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm. Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity) 9606.ENSP00000426255 SNX25 840 Sorting nexin-25; May be involved in several stages of intracellular trafficking; Sorting nexins 9606.ENSP00000426271 ROPN1B 212 Ropporin-1B; Important for male fertility. With ROPN1L, involved in fibrous sheath integrity and sperm motility, plays a role in PKA- dependent signaling processes required for spermatozoa capacitation; Belongs to the ropporin family 9606.ENSP00000426290 MLIP 993 Muscular LMNA-interacting protein; Required for precocious cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays an important role in protection against cardiac hypertrophy. Acts as a transcriptional cofactor, represses transactivator activity of ISL1 and MYOCD 9606.ENSP00000426296 PCP4L1 68 Purkinje cell protein 4 like 1; Belongs to the PCP4 family 9606.ENSP00000426354 TMEM161B 502 Transmembrane protein 161B; Belongs to the TMEM161 family 9606.ENSP00000426359 MCIDAS 385 Multicilin; Transcription regulator specifically required for multiciliate cell differentiation. Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway. Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1; Belongs to the geminin family 9606.ENSP00000426387 ZBTB38 1195 Zinc finger and BTB domain-containing protein 38; Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to E-box elements (5'-CACGTG-3'). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl- CpG-dependent manner. Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA- replicatio [...] 9606.ENSP00000426421 ASTE1 704 Protein asteroid homolog 1; Possible role in EGF receptor signaling 9606.ENSP00000426455 RNASET2 256 Ribonuclease T2; Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism; Belongs to the RNase T2 family 9606.ENSP00000426503 RNF4 190 E3 ubiquitin-protein ligase RNF4; E3 ubiquitin-protein ligase which binds polysumoylated chains covalently attached to proteins and mediates 'Lys-6'-, 'Lys-11'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination of those substrates and their subsequent targeting to the proteasome for degradation. Regulates the degradation of several proteins including PML and the transcriptional activator PEA3. Involved in chromosome alignment and spindle assembly, it regulates the kinetochore CENPH-CENPI-CENPK complex by targeting polysumoylated CENPI to proteasomal degradation. Regulates the cellular [...] 9606.ENSP00000426528 AMER2 671 APC membrane recruitment protein 2; Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex; Belongs to the Amer family 9606.ENSP00000426548 KCTD16 428 BTB/POZ domain-containing protein KCTD16; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity) 9606.ENSP00000426568 SMAD1 465 Mothers against decapentaplegic homolog 1; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression; Belongs to the dwarfin/SMAD family 9606.ENSP00000426613 TNIP3 376 TNFAIP3-interacting protein 3; Binds to zinc finger protein TNFAIP3 and inhibits NF- kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13- acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding 9606.ENSP00000426632 ERBB2IP 1419 Erbin; Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state. Inhibits NOD2-dependent NF-kappa-B signaling and proinflammatory cytokine secretion; Belongs to the LAP (LRR and PDZ) protein family 9606.ENSP00000426638 ETFDH 617 Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; Accepts electrons from ETF and reduces ubiquinone; Belongs to the ETF-QO/FixC family 9606.ENSP00000426653 WNT8A 369 Protein Wnt-8a; Ligand for members of the frizzled family of seven transmembrane receptors. May play an important role in the development and differentiation of certain forebrain structures, notably the hippocampus 9606.ENSP00000426654 ANAPC4 809 Anaphase-promoting complex subunit 4; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains 9606.ENSP00000426691 GOLGA8K 630 Golgin A8 family member K; Belongs to the GOLGA8 family 9606.ENSP00000426741 ENSG00000251246 233 Ephrin-A3; Uncharacterized protein; cDNA FLJ57652, highly similar to Ephrin-A3 ; Belongs to the ephrin family 9606.ENSP00000426809 PROM1 865 Prominin-1; May play a role in cell differentiation, proliferation and apoptosis. Binds cholesterol in cholesterol- containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner; CD molecules 9606.ENSP00000426906 ENSG00000249141 185 annotation not available 9606.ENSP00000426909 GNB2L1 317 Receptor of activated protein C kinase 1; (Microbial infection) Contributes to the cap-independent internal ribosome entry site (IRES)-mediated translation by some RNA viruses; Belongs to the WD repeat G protein beta family. Ribosomal protein RACK1 subfamily 9606.ENSP00000426941 MRPS27 428 28S ribosomal protein S27, mitochondrial; RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis. Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain. Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu). Involved also in positive regulation of cell proliferation and tumor cell growth 9606.ENSP00000426948 ENSG00000273217 1651 Uncharacterized protein 9606.ENSP00000426964 YJEFN3 299 YjeF N-terminal domain-containing protein 3; May play a role in spermiogenesis and oogenesis 9606.ENSP00000426978 NXF5 365 Nuclear RNA export factor 5; Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons 9606.ENSP00000427015 RPS6KA2 741 Ribosomal protein S6 kinase alpha-2; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of transcription factors, regulates translation, and mediates cellular proliferation, survival, and differentiation. May function as tumor suppressor in epithelial ovarian cancer cells; Mitogen-activated protein kinase-activated protein kinases 9606.ENSP00000427108 CDKN2AIP 580 CDKN2A-interacting protein; Regulates DNA damage response in a dose-dependent manner through a number of signaling pathways involved in cell proliferation, apoptosis and senescence; Belongs to the CARF family 9606.ENSP00000427114 FYB 829 FYN-binding protein 1; Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells. Modulates the expression of interleukin-2 (IL-2). Involved in platelet activation. Prevents the degradation of SKAP1 and SKAP2. May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton 9606.ENSP00000427120 KCNN2 579 Small conductance calcium-activated potassium channel protein 2; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin; Belongs to the potassium channel KCNN family. KCa2.2/KCNN2 subfamily 9606.ENSP00000427123 RAI14 983 Ankycorbin; Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier; Ankyrin repeat domain containing 9606.ENSP00000427130 ANKRD13D 605 Ankyrin repeat domain-containing protein 13D; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand- activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane; Ankyrin repeat domain containing 9606.ENSP00000427211 APBB2 759 Amyloid-beta A4 precursor protein-binding family B member 2; May modulate the internalization of amyloid-beta precursor protein 9606.ENSP00000427223 MARCH1 289 E3 ubiquitin-protein ligase MARCH1; E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system; Membrane associated ring-CH-type fingers 9606.ENSP00000427264 USP17L20 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 20; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000427279 CXCL2 107 C-X-C motif chemokine 2; Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor cell proliferation. GRO-beta(5-73) shows a highly enhanced hematopoietic activity 9606.ENSP00000427329 FOXR2 311 Forkhead box R2 9606.ENSP00000427336 DIO3 304 Thyroxine 5-deiodinase; Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine) into RT3 (3,3',5'-triiodothyronine) and of T3 (3,5,3'-triiodothyronine) into T2 (3,3'-diiodothyronine). RT3 and T2 are inactive metabolites. May play a role in preventing premature exposure of developing fetal tissues to adult levels of thyroid hormones. Can regulate circulating fetal thyroid hormone concentrations throughout gestation. Essential role for regulation of thyroid hormone inactivation during embryological development 9606.ENSP00000427342 CT45A5 189 Cancer/testis antigen family 45 member A5; Belongs to the CT45 family 9606.ENSP00000427366 USP17L26 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 24; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection; Belongs to the peptidase C19 family. USP17 subfamily 9606.ENSP00000427401 SREK1IP1 155 Protein SREK1IP1; Possible splicing regulator involved in the control of cellular survival 9606.ENSP00000427407 SMIM20 67 Small integral membrane protein 20; Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Promotes the progression of complex assembly after the association of MT- CO1/COX1 with COX4I1 and COX6C. Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover 9606.ENSP00000427421 CDC42SE2 84 CDC42 small effector protein 2; Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages; Belongs to the CDC42SE/SPEC family 9606.ENSP00000427424 TNFAIP8 210 Tumor necrosis factor alpha-induced protein 8; Acts as a negative mediator of apoptosis and may play a role in tumor progression. Suppresses the TNF-mediated apoptosis by inhibiting caspase-8 activity but not the processing of procaspase-8, subsequently resulting in inhibition of BID cleavage and caspase-3 activation 9606.ENSP00000427428 FAM218A 157 Protein FAM218A; Family with sequence similarity 218 member A 9606.ENSP00000427463 SPCS3 180 Signal peptidase complex subunit 3; Component of the microsomal signal peptidase complex which removes signal peptides and other N-terminal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum 9606.ENSP00000427514 CEBPA 358 CCAAT/enhancer-binding protein alpha; Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes. During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity [...] 9606.ENSP00000427550 CEP192 2537 Centrosomal protein of 192 kDa; Required for mitotic centrosome and spindle assembly. Appears to be a major regulator of pericentriolar material (PCM) recruitment, centrosome maturation, and centriole duplication; Protein phosphatase 1 regulatory subunits 9606.ENSP00000427552 DDR1 919 Epithelial discoidin domain-containing receptor 1; Tyrosine kinase that functions as cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required fo [...] 9606.ENSP00000427555 LOC285556 1793 Protein LOC285556 9606.ENSP00000427562 ABL2 1182 Abelson tyrosine-protein kinase 2; Non-receptor tyrosine-protein kinase that plays an ABL1- overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin- bundli [...] 9606.ENSP00000427567 FHDC1 1143 FH2 domain containing 1 9606.ENSP00000427661 SLC4A9 983 Anion exchange protein 4; Probable apical anion exchanger of the kidney cortex; Belongs to the anion exchanger (TC 2.A.31) family 9606.ENSP00000427679 MTTP 921 Microsomal triglyceride transfer protein large subunit; Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B 9606.ENSP00000427684 FAM153B 310 Protein FAM153B; Family with sequence similarity 153 member B 9606.ENSP00000427687 WDR1 606 WD repeat-containing protein 1; Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins. Enhances cofilin-mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotactic cell migration by restricting lamellipodial membrane protrusions. Involved in myocardium sarcomere organization. Required for cardiomyocyte growth and maintenance (By similarity). Involved in megakaryocyte maturation and platelet shedding. Required for the establishment of planar cell polarity (PCP) during follicular epithelium development and for cell shape chan [...] 9606.ENSP00000427690 GYPB 91 Glycophorin-B; This protein is a minor sialoglycoprotein in erythrocyte membranes; Belongs to the glycophorin-A family 9606.ENSP00000427695 TOB1 345 Protein Tob1; Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Mediates CPEB3-accelerated mRNA deadenylation by binding to CPEB3 and recruiting CNOT7 which leads to target mRNA deadenylation and decay; Belongs to the BTG family 9606.ENSP00000427772 WWC1 1119 Protein KIBRA; Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade. Modulates directional migrati [...] 9606.ENSP00000427793 WWP1 922 NEDD4-like E3 ubiquitin-protein ligase WWP1; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5 and TP63 and promotes their proteasomal degradation. Ubiquitinates RNF11 without targeting it for degradation. Ubiquitinates and promotes degradation of TGFBR1; the ubiquitination is enhanced by SMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotes degradation of SMAD2 in response to [...] 9606.ENSP00000427802 NACA2 215 Nascent polypeptide-associated complex subunit alpha-2; Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites) (By similarity) 9606.ENSP00000427820 C8orf34 538 Uncharacterized protein C8orf34; Chromosome 8 open reading frame 34 9606.ENSP00000427844 CEP57L1 460 Centrosomal protein CEP57L1; Centrosomal protein which may be required for microtubule attachment to centrosomes; Belongs to the translokin family 9606.ENSP00000427866 DMTN 405 Dematin; Membrane-cytoskeleton-associated protein with F-actin- binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator [...] 9606.ENSP00000427882 ANKAR 1434 Ankyrin and armadillo repeat containing 9606.ENSP00000427888 HS3ST5 346 Heparan sulfate glucosamine 3-O-sulfotransferase 5; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. Also generates GlcUA- GlcNS or IdoUA-GlcNS and IdoUA2S-GlcNH2. The substrate-specific O- sulfation generates an enzyme-modified h [...] 9606.ENSP00000427900 KIF13B 1826 Kinesin-like protein KIF13B; Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes; Kinesins 9606.ENSP00000427926 RHOBTB2 749 Rho-related BTB domain-containing protein 2; Rho related BTB domain containing 2 9606.ENSP00000427951 CCDC160 325 Coiled-coil domain containing 160; Belongs to the CCDC160 family 9606.ENSP00000427975 RANBP17 1088 Ran-binding protein 17; May function as a nuclear transport receptor; Armadillo-like helical domain containing 9606.ENSP00000428002 C8orf44 159 Putative uncharacterized protein C8orf44; Chromosome 8 open reading frame 44 9606.ENSP00000428056 PIK3R1 724 Phosphatidylinositol 3-kinase regulatory subunit alpha; Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling. Modulates the cellular response to ER stress by promoting nuclear translocation [...] 9606.ENSP00000428085 RPL30 115 Ribosomal protein L30; Belongs to the eukaryotic ribosomal protein eL30 family 9606.ENSP00000428137 SLC45A4 808 Solute carrier family 45 member 4; Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family 9606.ENSP00000428182 MPP2 597 MAGUK p55 subfamily member 2; Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2-containing channel function and long-term potentiation expression (By similarity). Seems to negatively regulate SRC function in epithelial cells 9606.ENSP00000428205 FBXO32 355 F-box only protein 32; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1; F-boxes other 9606.ENSP00000428209 UBE2V2 145 Ubiquitin-conjugating enzyme E2 variant 2; Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys-63'. This type of poly-ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage 9606.ENSP00000428220 IRGM 181 Immunity-related GTPase family M protein; Putative GTPase which is required for clearance of acute protozoan and bacterial infections. Functions in innate immune response probably through regulation of autophagy. May regulate proinflammatory cytokine production and prevent endotoxemia upon infection. May also play a role in macrophages adhesion and motility (By similarity); Belongs to the TRAFAC class dynamin-like GTPase superfamily. IRG family 9606.ENSP00000428223 RPL26L1 145 Ribosomal protein L26 like 1; Belongs to the universal ribosomal protein uL24 family 9606.ENSP00000428259 CETN3 191 Centrin-3; EF-hand domain containing 9606.ENSP00000428263 C14orf159 621 D-glutamate cyclase, mitochondrial; D-glutamate cyclase that converts D-glutamate to 5-oxo- D-proline 9606.ENSP00000428280 FER1L6 1857 Fer-1-like protein 6; Fer-1 like family member 6 9606.ENSP00000428281 LEPROTL1 169 Leptin receptor overlapping transcript-like 1; Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability; Belongs to the OB-RGRP/VPS55 family 9606.ENSP00000428288 PCDHGB4 923 Protocadherin gamma-B4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000428316 SERPINE3 424 Serpin E3; Probable serine protease inhibitor; Serpin peptidase inhibitors 9606.ENSP00000428324 VASH2 355 Vasohibin-2; Angiogenesis inhibitor. Inhibits network formation by endothelial cells; Belongs to the vasohibin family 9606.ENSP00000428325 PYDC2 97 Pyrin domain-containing protein 2; May play a role in innate immunity by disrupting the interaction between PYCARD and NLRP3, thereby regulating the NLRP3 inflammasome. May also inhibit NF-kappa-B signaling distally by affecting the nuclear accumulation of RELA; Pyrin domain containing 9606.ENSP00000428331 SFTA3 94 Surfactant-associated protein 3; Surfactant associated 3 9606.ENSP00000428338 SPSB2 263 SPRY domain-containing SOCS box protein 2; Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins 9606.ENSP00000428340 ANGPT1 498 Angiopoietin-1; Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells [...] 9606.ENSP00000428343 RGS21 152 Regulator of G-protein signaling 21; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form; Regulators of G-protein signaling 9606.ENSP00000428402 CLVS1 354 Clavesin-1; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) 9606.ENSP00000428417 RIMS1 1692 Regulating synaptic membrane exocytosis protein 1; Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short- term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes; PDZ domain containing 9606.ENSP00000428426 TCEA1 301 Transcription elongation factor A protein 1; Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus; General transcription factors 9606.ENSP00000428480 DLX6 293 Homeobox protein DLX-6; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000428489 PBK 333 Lymphokine-activated killer T-cell-originated protein kinase; Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization and attenuation of G2/M checkpoint during doxorubicin-induced DNA damage; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily 9606.ENSP00000428518 GFRA2 464 GDNF family receptor alpha-2; Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor 9606.ENSP00000428540 ST3GAL1 340 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1; Responsible for the synthesis of the sequence NeuAc- alpha-2,3-Gal-beta-1,3-GalNAc- found on sugar chains O-linked to Thr or Ser and also as a terminal sequence on certain gangliosides. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values; Belongs to the glycosyltransferase 29 family 9606.ENSP00000428544 TMEM200B 307 Transmembrane protein 200B 9606.ENSP00000428564 SEC24B 1298 Protein transport protein Sec24B; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may [...] 9606.ENSP00000428572 LY6E 131 Lymphocyte antigen 6E; Involved in T-cell development. Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response; LY6/PLAUR domain containing 9606.ENSP00000428579 NWD1 1432 NACHT domain- and WD repeat-containing protein 1; May play a role in the control of androgen receptor (AR) protein steady-state levels; WD repeat domain containing 9606.ENSP00000428585 SMIM12 92 Small integral membrane protein 12 9606.ENSP00000428603 PCDHGB6 930 Protocadherin gamma-B6; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000428612 SLC10A5 438 Sodium/bile acid cotransporter 5; Solute carrier family 10 member 5 9606.ENSP00000428619 UTP14C 766 U3 small nucleolar RNA-associated protein 14 homolog C; Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity) 9606.ENSP00000428646 FBXO41 875 F-box only protein 41; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-boxes other 9606.ENSP00000428657 NAIP 1403 Baculoviral IAP repeat-containing protein 1; Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the rate of auto proteolysis at 'Asp-330'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor- neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron ap [...] 9606.ENSP00000428679 ZNF829 513 Zinc finger protein 829; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000428698 RNF217 542 Probable E3 ubiquitin-protein ligase RNF217; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates; Belongs to the RBR family. RNF217 subfamily 9606.ENSP00000428756 STAU2 570 Double-stranded RNA-binding protein Staufen homolog 2; RNA-binding protein required for the microtubule- dependent transport of neuronal RNA from the cell body to the dendrite. As protein synthesis occurs within the dendrite, the localization of specific mRNAs to dendrites may be a prerequisite for neurite outgrowth and plasticity at sites distant from the cell body (By similarity) 9606.ENSP00000428780 CLDN23 292 Claudin-23; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000428787 AP3M2 418 AP-3 complex subunit mu-2; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals; Belongs to the adaptor complexes medium subunit family 9606.ENSP00000428845 VDAC3 284 Voltage-dependent anion-selective channel protein 3; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules; Belongs to the eukaryotic mitochondrial porin family 9606.ENSP00000428858 SMIM18 95 Small integral membrane protein 18 9606.ENSP00000428864 CES5A 604 Carboxylesterase 5A; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs; Carboxylesterases 9606.ENSP00000428876 FAM83A 434 Protein FAM83A; Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation; Belongs to the FAM83 family 9606.ENSP00000428878 ZNF721 923 Zinc finger protein 721; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000428895 COX6C 75 Cytochrome c oxidase subunit 6C; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000428924 LYN 512 Tyrosine-protein kinase Lyn; Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors and plays an important role in the regulation of innate and adaptive immune responses, hematopoiesis, responses to growth factors and cytokines, integrin signaling, but also responses to DNA damage and genotoxic agents. Functions primarily as negative regulator, but can also function as activator, depending on the context. Required for the initiation of the B-cell response, but also for its down- regulation and termination. Plays an important role in the regulation of B- [...] 9606.ENSP00000428966 ENSG00000264668 198 Zinc finger protein 41 homolog; A putative DNA-binding regulatory protein associated with meiosis in spermatogenesis; Zinc fingers C2H2-type 9606.ENSP00000428968 RNF19A 838 E3 ubiquitin-protein ligase RNF19A; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection; Belongs to the RBR family. RNF19 subfamily 9606.ENSP00000428982 CCNC 283 Cyclin-C; Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Binds to and activates cyclin-dependent kinase CDK8 that phosphorylate [...] 9606.ENSP00000428994 GRIA1 916 Glutamate receptor 1; Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. In the presence of CACNG4 or CACNG7 or CACNG8, shows resensitization which is characterized by a delayed accumulat [...] 9606.ENSP00000429015 ANKRD46 232 Ankyrin repeat domain-containing protein 46; Ankyrin repeat domain containing 9606.ENSP00000429018 PCDHGB2 931 Protocadherin gamma-B2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000429022 ENSG00000270024 496 Serine/threonine-protein kinase Sgk3; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, proliferation, survival and migration. Up-regulates Na(+) channels: SCNN1A/ENAC and SCN5A, K(+) channels: KCNA3/KV1.3, KCNE1, KCNQ1 and KCNH2/HERG, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channel: BSND, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, amino acid transporters: SLC1A5/ASCT2 and SLC6A19, glutamate [...] 9606.ENSP00000429065 INTS9 658 Integrator complex subunit 9; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex 9606.ENSP00000429073 NKAIN3 197 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3; Sodium/potassium transporting ATPase interacting 3; Belongs to the NKAIN family 9606.ENSP00000429084 UBR5 2799 E3 ubiquitin-protein ligase UBR5; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Pla [...] 9606.ENSP00000429089 CCNE2 404 G1/S-specific cyclin-E2; Essential for the control of the cell cycle at the late G1 and early S phase; Belongs to the cyclin family. Cyclin E subfamily 9606.ENSP00000429148 ZNF674 581 Zinc finger protein 674; May be involved in transcriptional regulation; X-linked mental retardation 9606.ENSP00000429150 FAM49B 324 Protein FAM49B; Family with sequence similarity 49 member B 9606.ENSP00000429168 SLC25A30 291 Kidney mitochondrial carrier protein 1; Probable transporter; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000429190 ENDOV 282 Endonuclease V; Endoribonuclease that specifically cleaves inosine- containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine. Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs and tRNAs containing inosine. Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'- UIUU-3'. Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involve [...] 9606.ENSP00000429200 SLC25A37 338 Mitoferrin-1; Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis. The iron delivered into the mitochondria, presumably as Fe(2+), is then probably delivered to ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX to make heme (By similarity); Solute carriers 9606.ENSP00000429216 TRNP1 227 TMF-regulated nuclear protein 1; DNA-binding factor that regulates the expression of a subset of genes and plays a key role in tangential, radial, and lateral expansion of the brain neocortex. Regulates neural stem cells proliferation and the production of intermediate neural progenitors and basal radial glial cells affecting the process of cerebral cortex gyrification. May control the proliferation rate of cells by regulating their progression through key cell-cycle transition points (By similarity) 9606.ENSP00000429240 ENSG00000248405 464 Rho GTPase-activating protein 8; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state 9606.ENSP00000429243 STMN2 187 Stathmin-2; Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity); Stathmins 9606.ENSP00000429273 PCDHGB1 927 Protocadherin gamma-B1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000429275 TMEM125 219 Transmembrane protein 125 9606.ENSP00000429301 PGRMC2 247 Membrane-associated progesterone receptor component 2; Receptor for steroids; Membrane associated progesterone receptor family 9606.ENSP00000429309 TPD52 247 Tumor protein D52 9606.ENSP00000429344 PNMA2 364 Paraneoplastic Ma antigens; Belongs to the PNMA family 9606.ENSP00000429367 FAM92A1 289 Protein FAM92A; May play a role in ciliogenesis. In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis 9606.ENSP00000429374 RPS20 142 Ribosomal protein S20 9606.ENSP00000429430 TENM2 2774 Teneurin-2; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Promotes the formation of filopodia and enlarged growth cone in neuronal cells. Induces homophilic cell-cell adhesion (By similarity). May function as a cellular signal transducer 9606.ENSP00000429473 HS6ST2 645 Heparan-sulfate 6-O-sulfotransferase 2; 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate 9606.ENSP00000429517 TRIQK 86 Triple QxxK/R motif-containing protein; May play a role in cell growth and maintenance of cell morphology 9606.ENSP00000429553 NKX6-3 135 Homeobox protein Nkx-6.3; Putative transcription factor, which may be involved in patterning of central nervous system and pancreas; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000429562 UNC13A 1703 Protein unc-13 homolog A; Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses (By similarity). Also involved in secretory granule priming in insulin secretion (By similarity). Interacts with FBXO45 (via SRY domain); lead [...] 9606.ENSP00000429601 PCDHGA6 932 Protocadherin gamma-A6; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000429608 FANCD2OS 177 FANCD2 opposite strand 9606.ENSP00000429615 ERI1 349 3'-5' exoribonuclease 1; RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication. A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient degradation of RNA substrates. Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi). Requires for binding the 5'-ACCCA-3' sequence present in stem-loop structure. Able to bind other mRNAs. Required for 5.8S rRN [...] 9606.ENSP00000429633 MYBL1 752 Myb-related protein A; Transcription factor that specifically recognizes the sequence 5'-YAAC[GT]G-3'. Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism (By similarity). The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity (By simila [...] 9606.ENSP00000429690 ATP6V0E1 81 V-type proton ATPase subunit e 1; Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; Belongs to the V-ATPase e1/e2 subunit family 9606.ENSP00000429726 FAM159A 190 Membrane protein FAM159A; Family with sequence similarity 159, member A; Belongs to the FAM159 family 9606.ENSP00000429734 NPIPB13 1138 Nuclear pore complex-interacting protein family member B13; Putative NPIP-like protein LOC613037 9606.ENSP00000429744 STK3 519 Serine/threonine-protein kinase 3; Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein [...] 9606.ENSP00000429763 FAM196A 479 Protein FAM196A; Family with sequence similarity 196 member A 9606.ENSP00000429803 ZNF260 412 Zinc finger protein 260; Transcription factor that acts as a cardiac regulator and an effector of alpha1-adrenergic signaling. Binds to PE response elements (PERE) present in the promoter of genes such as ANF/NPPA and acts as a direct transcriptional activator of NPPA. Also acts as a cofactor with GATA4, a key cardiac regulator (By similarity); Zinc fingers C2H2-type 9606.ENSP00000429808 PCDHA3 950 Protocadherin alpha-3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000429824 CLINT1 643 Clathrin interactor 1; Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). May have a role in transport via clathrin-coated vesicles from the trans-Golgi network to endosomes. Stimulates clathrin assembly 9606.ENSP00000429834 PCDHGA5 931 Protocadherin gamma-A5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000429842 SNTG1 517 Gamma-1-syntrophin; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation; Belongs to the syntrophin family 9606.ENSP00000429865 ENSG00000259024 164 Golgi apparatus membrane protein TVP23 homolog; TVP23C-CDRT4 readthrough 9606.ENSP00000429896 FAM178B 679 Protein FAM178B; Family with sequence similarity 178 member B 9606.ENSP00000429900 ASAP1 1129 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1; Possesses phosphatidylinositol 4,5-bisphosphate- dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis; Ankyrin repeat domain containing 9606.ENSP00000429931 EIF3H 352 Eukaryotic translation initiation factor 3 subunit H; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000429969 SCUBE2 971 Signal peptide, CUB domain and EGF like domain containing 2 9606.ENSP00000429986 ENY2 101 Transcription and mRNA export factor ENY2; Involved in mRNA export coupled transcription activation by association with both the TREX-2 and the SAGA complexes. The transcription regulatory histone acetylation (HAT) complex SAGA is a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for trans [...] 9606.ENSP00000430000 ATXN7L3B 97 Ataxin-7-like protein 3B; By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression level [...] 9606.ENSP00000430024 PCDHGA7 932 Protocadherin gamma-A7; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000430025 LYRM2 88 LYR motif containing 2 9606.ENSP00000430073 CNBD1 436 Cyclic nucleotide-binding domain-containing protein 1; Cyclic nucleotide binding domain containing 1 9606.ENSP00000430075 AMPD1 780 AMP deaminase 1; AMP deaminase plays a critical role in energy metabolism; Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family 9606.ENSP00000430100 GABRP 440 Gamma-aminobutyric acid receptor subunit pi; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfa [...] 9606.ENSP00000430128 RALYL 304 RNA-binding Raly-like protein; RALY RNA binding protein like 9606.ENSP00000430236 ALG11 492 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol- linked oligosaccharide chain; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily 9606.ENSP00000430237 RNF130 419 E3 ubiquitin-protein ligase RNF130; May have a role during the programmed cell death of hematopoietic cells (By similarity). Acts as an E3 ubiquitin- protein ligase; Ring finger proteins 9606.ENSP00000430241 EBF2 575 Transcription factor COE2; Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt- responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity) 9606.ENSP00000430242 SBSN 590 Suprabasin 9606.ENSP00000430269 EPHX2 555 Bifunctional epoxide hydrolase 2; Bifunctional enzyme. The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides. Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady-state levels of physiological mediators. The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid and 12-phosphonoox [...] 9606.ENSP00000430271 ETV3L 361 ETS translocation variant 3-like protein; Transcriptional regulator; ETS transcription factor family 9606.ENSP00000430276 MCF2 1001 Proto-oncogene DBL; Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42; Belongs to the MCF2 family 9606.ENSP00000430307 PRSS46 174 Protease, serine, 46; Belongs to the peptidase S1 family 9606.ENSP00000430325 TDRP 198 Testis development related protein 9606.ENSP00000430338 INTS8 995 Integrator complex subunit 8; Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes 9606.ENSP00000430344 PLCD1 777 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development; C2 domain containing phospholipases 9606.ENSP00000430432 HDAC2 488 Histone deacetylase 2; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed o [...] 9606.ENSP00000430493 CNOT8 292 CCR4-NOT transcription complex subunit 8; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT7. Catalytic component of the CCR4-NOT complex which is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a [...] 9606.ENSP00000430494 UQCRB 140 Cytochrome b-c1 complex subunit 7; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping; Belongs to the UQCRB/QCR7 family 9606.ENSP00000430497 ZFHX4 3616 Zinc finger homeobox protein 4; May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation; ZF class homeoboxes and pseudogenes 9606.ENSP00000430548 PTDSS1 473 Phosphatidylserine synthase 1; Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine 9606.ENSP00000430598 ATOX1 68 Copper transport protein ATOX1; Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense; Belongs to the ATX1 family 9606.ENSP00000430620 HEPH 1212 Hephaestin; May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1 9606.ENSP00000430656 CA1 261 Carbonic anhydrase 1; Reversible hydration of carbon dioxide. Can hydrates cyanamide to urea; Carbonic anhydrases 9606.ENSP00000430676 KCNK9 374 Potassium channel subfamily K member 9; pH-dependent, voltage-insensitive, background potassium channel protein; Potassium two pore domain channel subfamily K 9606.ENSP00000430684 IKBKB 756 Inhibitor of nuclear factor kappa-B kinase subunit beta; Serine kinase that plays an essential role in the NF- kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is transloc [...] 9606.ENSP00000430690 TFF3 94 Trefoil factor 3; Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen) 9606.ENSP00000430706 EIF5AL1 154 Eukaryotic translation initiation factor 5A-1-like; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation [...] 9606.ENSP00000430711 TRHR 398 Thyrotropin-releasing hormone receptor; Receptor for thyrotropin-releasing hormone. This receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system; Peptide receptors 9606.ENSP00000430733 CSMD1 3565 CUB and sushi domain-containing protein 1; Potential suppressor of squamous cell carcinomas; Protein phosphatase 1 regulatory subunits 9606.ENSP00000430774 ENSG00000272772 91 Uncharacterized protein; Belongs to the SKP1 family 9606.ENSP00000430823 ZNF706 76 Zinc finger protein 706; Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal. Acts by repressing expression of KLF4 9606.ENSP00000430846 KCNB2 911 Potassium voltage-gated channel subfamily B member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric an [...] 9606.ENSP00000430853 NPIPB11 1161 Nuclear pore complex interacting protein family member B11 9606.ENSP00000430886 GPBAR1 330 G-protein coupled bile acid receptor 1; Receptor for bile acid. Bile acid-binding induces its internalization, activation of extracellular signal-regulated kinase and intracellular cAMP production. May be involved in the suppression of macrophage functions by bile acids 9606.ENSP00000430897 CCDC71L 235 Coiled-coil domain-containing protein 71L; Coiled-coil domain containing 71 like 9606.ENSP00000430918 C1orf210 113 Type III endosome membrane protein TEMP; May be involved in membrane trafficking between endosomes and plasma membrane 9606.ENSP00000430919 HMGB4 186 Canonical high mobility group; Belongs to the HMGB family 9606.ENSP00000430945 BAI1 1584 Adhesion G protein-coupled receptor B1; Phosphatidylserine receptor which enhances the engulfment of apoptotic cells. Also mediates the binding and engulfment of Gram-negative bacteria. Stimulates production of reactive oxygen species by macrophages in response to Gram-negative bacteria, resulting in enhanced microbicidal macrophage activity. In the gastric mucosa, required for recognition and engulfment of apoptotic gastric epithelial cells. Promotes myoblast fusion (By similarity). Activates the Rho pathway in a G-protein-dependent manner. Inhibits MDM2-mediated ubiquitination and de [...] 9606.ENSP00000430950 IDO1 403 Indoleamine 2,3-dioxygenase 1; Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway. Involved in the peripheral immune tolerance, contributing to maintain homeostasis by preventing autoimmunity or immunopathology that would result from uncontrolled and overreacting immune responses. Tryptophan shortage inhibits T lymphocytes division and accumulation of tryptophan catabolites induces T-cell apoptosis and differentiation of regulatory T-cells. Acts as a suppressor of anti-tumor immunity. Limits the growth of int [...] 9606.ENSP00000430955 RNF145 693 Ring finger protein 145 9606.ENSP00000430985 ANKRD6 727 Ankyrin repeat domain-containing protein 6; Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals; Ankyrin repeat domain containing 9606.ENSP00000431040 MRPL22 206 Mitochondrial ribosomal protein L22 9606.ENSP00000431049 GSTK1 282 Soluble glutathione S-transferases 9606.ENSP00000431083 PCDHGA1 931 Protocadherin gamma-A1; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000431140 CTRP5 243 Complement C1q tumor necrosis factor-related protein 5; C1q and TNF related 5 9606.ENSP00000431162 EID1 187 EP300-interacting inhibitor of differentiation 1; Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms 9606.ENSP00000431165 ENSG00000258472 336 Uncharacterized protein 9606.ENSP00000431186 BTBD10 483 BTB/POZ domain-containing protein 10; Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells; BTB domain containing 9606.ENSP00000431198 ENSG00000250210 71 annotation not available 9606.ENSP00000431202 ZNF345 488 Zinc finger protein 345; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000431254 IGLL5 214 Immunoglobulin lambda like polypeptide 5; C1-set domain containing 9606.ENSP00000431265 ZFP82 532 Zinc finger protein 82 homolog; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000431284 LPXN 391 Leupaxin; Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin-induced tyrosine phosphorylation of paxillin (PXN). May play a critical role as an adapter protein in the formation of the adhesion zone in osteoclasts. Negatively regulates B-cell antigen receptor (BCR) signaling 9606.ENSP00000431287 METTL12 240 Methyltransferase-like protein 12, mitochondrial; Putative methyltransferase 9606.ENSP00000431371 ENSG00000255439 166 Uncharacterized protein 9606.ENSP00000431376 TATDN3 281 Putative deoxyribonuclease TATDN3; Putative deoxyribonuclease; Belongs to the metallo-dependent hydrolases superfamily. TatD-type hydrolase family 9606.ENSP00000431391 API5 524 Apoptosis inhibitor 5; Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs; Armadillo-like helical domain containing 9606.ENSP00000431404 PGBD5 455 PiggyBac transposable element-derived protein 5; Transposase that mediates sequence-specific genomic rearrangements. Can induce genomic rearrangements that inactivate the HPRT1 gene; DNA transposon derived genes 9606.ENSP00000431418 NTRK1 796 High affinity nerve growth factor receptor; Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic and nervous neurons. High affinity receptor for NGF which is its primary ligand. Can also bind and be activated by NTF3/neurotrophin-3. However, NTF3 only supports axonal extension through NTRK1 but has no effect on neuron survival (By similarity). Upon dimeric NGF ligand-binding, undergoes homodimerization, autophosphorylation and activation. Rec [...] 9606.ENSP00000431443 KRTAP5-9 169 Keratin-associated protein 5-9; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000431445 CD3G 182 T-cell surface glycoprotein CD3 gamma chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of d [...] 9606.ENSP00000431459 FAM89B 189 Leucine repeat adapter protein 25; Negatively regulates TGF-beta-induced signaling; in cooperation with SKI prevents the translocation of SMAD2 from the nucleus to the cytoplasm in response to TGF-beta. Acts as an adapter that mediates the specific recognition of LIMK1 by CDC42BPA and CDC42BPB in the lamellipodia. LRAP25-mediated CDC42BPA/CDC42BPB targeting to LIMK1 and the lamellipodium results in LIMK1 activation and the subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation; Belongs to the FAM89 family 9606.ENSP00000431482 NEDD8-MDP1 170 NEDD8-MDP1 readthrough 9606.ENSP00000431512 HSF1 529 Heat shock factor protein 1; Function as a stress-inducible and DNA-binding transcription factor that plays a central role in the transcriptional activation of the heat shock response (HSR), leading to the expression of a large class of molecular chaperones heat shock proteins (HSPs) that protect cells from cellular insults' damage. In unstressed cells, is present in a HSP90-containing multichaperone complex that maintains it in a non-DNA-binding inactivated monomeric form. Upon exposure to heat and other stress stimuli, undergoes homotrimerization and activates HSP gene transcription [...] 9606.ENSP00000431536 ENSG00000254979 227 Uncharacterized protein 9606.ENSP00000431603 POU2F2 479 POU domain, class 2, transcription factor 2; Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3'). Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates transcription transactivation by NR3C1, AR and PGR. Isoform 5 activates the U2 small nuclear RNA (snRNA) promoter; POU class homeoboxes and pseudogenes 9606.ENSP00000431607 MS4A18 400 Membrane spanning 4-domains A18 9606.ENSP00000431719 TAS2R43 309 Taste receptor type 2 member 43; Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity) 9606.ENSP00000431748 PCDHA2 948 Protocadherin alpha-2; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000431759 C12orf55 3096 Cilia- and flagella-associated protein 54; Required for assembly and function of cilia and flagella 9606.ENSP00000431800 EIF3F 357 Eukaryotic translation initiation factor 3 subunit F; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000431808 AAMDC 122 Mth938 domain-containing protein; May play a role in preadipocyte differentiation and adipogenesis; Belongs to the AAMDC family 9606.ENSP00000431813 CSRP3 194 Cysteine and glycine-rich protein 3; Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-li [...] 9606.ENSP00000431814 NPIPA7 369 Nuclear pore complex interacting protein family member A7 9606.ENSP00000431840 SLC24A4 622 Sodium/potassium/calcium exchanger 4; Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity); Belongs to the Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family. SLC24A subfamily 9606.ENSP00000431871 NPIPB6 425 Nuclear pore complex interacting protein family member B6; Belongs to the NPIP family 9606.ENSP00000431876 USP35 1018 Ubiquitin specific peptidase 35 9606.ENSP00000431885 TYK2 1187 Non-receptor tyrosine-protein kinase TYK2; Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain; FERM domain containing 9606.ENSP00000431914 OR10S1 331 Olfactory receptor 10S1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000431926 AMBRA1 1238 Activating molecule in BECN1-regulated autophagy protein 1; Regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation (By similarity); DDB1 and CUL4 associated factors 9606.ENSP00000431962 L3MBTL3 780 Lethal(3)malignant brain tumor-like protein 3; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Required for normal maturation of myeloid progenitor cells (By similarity); MBT domain containing 9606.ENSP00000431971 SAMD1 432 Atherin; May play a role in atherogenesis by immobilizing LDL in the atherial wall; Sterile alpha motif domain containing 9606.ENSP00000431984 CAPN1 714 Calpain-1 catalytic subunit; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction; Belongs to the peptidase C2 family 9606.ENSP00000432011 OR52B2 323 Olfactory receptor 52B2; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000432016 ENSG00000254996 2617 ANKHD1-EIF4EBP3 readthrough 9606.ENSP00000432083 HSPA8 646 Heat shock cognate 71 kDa protein; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis a [...] 9606.ENSP00000432104 EBLN2 272 Endogenous Bornavirus-like nucleoprotein 2; May act as an RNA-binding protein. The C-terminal region is highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes. The viral protein also possesses a nuclear import and a nuclear export signal. These 2 signals seem absent in EBLN-2 supporting an unrelated function in Human 9606.ENSP00000432119 WDR74 385 WD repeat-containing protein 74; WD repeat domain containing 9606.ENSP00000432172 CCDC17 622 Coiled-coil domain containing 17 9606.ENSP00000432218 IL32 188 Interleukin-32; Interleukin 32; Interleukins 9606.ENSP00000432279 CHMP1B 199 Charged multivesicular body protein 1b; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the [...] 9606.ENSP00000432282 TAGLN 201 Transgelin; Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence; Belongs to the calponin family 9606.ENSP00000432305 SPA17 151 Sperm surface protein Sp17; Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates (By similarity) 9606.ENSP00000432353 PBOV1 135 Prostate and breast cancer overexpressed 1 9606.ENSP00000432412 ATG13 550 Autophagy-related protein 13; Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1- RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation 9606.ENSP00000432417 OR5M11 305 Olfactory receptor 5M11; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000432456 GPR61 451 Probable G-protein coupled receptor 61; Orphan receptor; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000432459 TMEM262 116 Transmembrane protein 262 9606.ENSP00000432472 BRK1 75 Protein BRICK1; Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex. As component of the WAVE1 complex, required for BDNF- NTRK2 endocytic trafficking and signaling from early endosomes (By similarity) 9606.ENSP00000432481 NAALAD2 740 N-acetylated-alpha-linked acidic dipeptidase 2; Has N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Also exhibits a dipeptidyl-peptidase IV type activity. Inactivate the peptide neurotransmitter N- acetylaspartylglutamate 9606.ENSP00000432487 SAAL1 474 Protein SAAL1; Plays a role in promoting the proliferation of synovial fibroblasts in response to proinflammatory stimuli; Armadillo-like helical domain containing 9606.ENSP00000432523 C11orf98 123 Uncharacterized protein LOC102288414 9606.ENSP00000432561 HTN3 51 Histatin-3; Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. His3-(20-43)-peptide (histatin-5) is especially effective against C.albicans and C.neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB) from P.gingivalis. In addition, His3-(20-43)-peptide is a potent inhibitor of metalloproteinases MMP2 and MMP9 9606.ENSP00000432568 SPTBN2 2390 Spectrin beta chain, non-erythrocytic 2; Probably plays an important role in neuronal membrane skeleton; Belongs to the spectrin family 9606.ENSP00000432586 FAT3 4439 Protocadherin Fat 3; May play a role in the interactions between neurites derived from specific subsets of neurons during development; Cadherin related 9606.ENSP00000432614 ENSG00000259112 114 NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity) 9606.ENSP00000432648 YPEL4 127 Protein yippee-like 4; Yippee like family; Belongs to the yippee family 9606.ENSP00000432651 SMTNL1 494 Smoothelin-like protein 1; Plays a role in the regulation of contractile properties of both striated and smooth muscles. When unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory activity (By similarity) 9606.ENSP00000432660 CFL1 166 Cofilin-1; Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation. Required for neural tube morphogenesis and neural crest cell migration (By similarity) 9606.ENSP00000432688 PIGY 71 Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y; Component of the GPI-GlcNAc transferase (GPI-GnT) complex in the endoplasmic reticulum, a complex that catalyzes transfer of GlcNAc from UDP-GlcNAc to an acceptor phosphatidylinositol, the first step in the production of GPI- anchors for cell surface proteins. May act by regulating the catalytic subunit PIGA 9606.ENSP00000432692 UQCC3 93 Ubiquinol-cytochrome-c reductase complex assembly factor 3; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex), mediating cytochrome b recruitment and probably stabilization within the complex. Thereby, plays an important role in ATP production by mitochondria. Cardiolipin- binding protein, it may also control the cardiolipin composition of mitochondria membranes and their morphology 9606.ENSP00000432695 KIAA1456 454 Probable tRNA methyltransferase 9-like protein; May modifie wobble uridines in specific arginine and glutamic acid tRNAs. Acts as a tumor suppressor by promoting the expression of LIN9 9606.ENSP00000432743 TP53AIP1 124 P53-regulated apoptosis-inducing protein 1; May play an important role in mediating p53/TP53- dependent apoptosis 9606.ENSP00000432768 CKAP5 2032 Cytoskeleton-associated protein 5; Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Acts as processive microtubule polymerase. Promotes cytoplasmic microtubule nucleation and elongation. Plays a major role in organizing spindle poles. In spindle formation protects kinetochore microtubules from depolymerization by KIF2C and has an essential role in centrosomal microtubule assembly independently of KIF2C activity. Contributes to centrosome integrity. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stab [...] 9606.ENSP00000432770 EYA4 645 Eyes absent homolog 4; Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity); De [...] 9606.ENSP00000432786 KDM2A 1162 Lysine-specific demethylase 2A; Histone demethylase that specifically demethylates 'Lys- 36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys- 36'. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at the [...] 9606.ENSP00000432799 MANF 182 Mesencephalic astrocyte-derived neurotrophic factor; Selectively promotes the survival of dopaminergic neurons of the ventral mid-brain. Modulates GABAergic transmission to the dopaminergic neurons of the substantia nigra. Enhances spontaneous, as well as evoked, GABAergic inhibitory postsynaptic currents in dopaminergic neurons (By similarity). Inhibits cell proliferation and endoplasmic reticulum (ER) stress-induced cell death 9606.ENSP00000432816 ACRV1 265 Acrosomal vesicle protein 1 9606.ENSP00000432845 MEX3A 520 RNA-binding protein MEX3A; RNA binding protein, may be involved in post- transcriptional regulatory mechanisms; Ring finger proteins 9606.ENSP00000432869 GYLTL1B 721 LARGE xylosyl- and glucuronyltransferase 2; Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine- beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by a [...] 9606.ENSP00000432886 RNPC3 517 RNA-binding protein 40; Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA; RNA binding motif containing 9606.ENSP00000432943 MPZ 248 Myelin protein P0; Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction; Ig-like cell adhesion molecule family 9606.ENSP00000433001 RGS5 185 Regulator of G-protein signaling 5; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity); Regulators of G-protein signaling 9606.ENSP00000433071 RBM4B 359 RNA-binding protein 4B; Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3'-UTR of the PER1 mRNA (By similarity); RNA binding motif containing 9606.ENSP00000433102 TRIM3 744 Tripartite motif-containing protein 3; Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Positively regulates motility of microtubule-dependent motor protein KIF21B (By similarity); Ring finger proteins 9606.ENSP00000433109 KCNA2 499 Potassium voltage-gated channel subfamily A member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form func [...] 9606.ENSP00000433126 TMEM41B 291 Transmembrane protein 41B; Required for normal motor neuron development 9606.ENSP00000433138 CASP1 404 Caspase-1; Thiol protease that cleaves IL-1 beta between an Asp and an Ala, releasing the mature cytokine which is involved in a variety of inflammatory processes. Important for defense against pathogens. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Can also promote apoptosis. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of MB21D1/cGAS, rendering it inactive; Belongs to the peptidase C14A family 9606.ENSP00000433146 USP47 1355 Ubiquitin carboxyl-terminal hydrolase 47; Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta (POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth and genome integrity. May also indirectly regulate CDC25A expression at a transcriptional level 9606.ENSP00000433157 BBIP1 103 BBSome interacting protein 1; Bardet-Biedl syndrome associated; BBSome 9606.ENSP00000433205 C11orf30 1337 BRCA2-interacting transcriptional repressor EMSY; Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors 9606.ENSP00000433209 GSDMD 484 Gasdermin-D; Gasdermin-D, N-terminal: Promotes pyroptosis in response to microbial infection and danger signals. Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1 or CASP4 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators. After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)- bisphosphate, as well as phosphati [...] 9606.ENSP00000433277 MS4A1 297 B-lymphocyte antigen CD20; This protein may be involved in the regulation of B-cell activation and proliferation; Belongs to the MS4A family 9606.ENSP00000433282 SLC22A18AS 253 Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein; Solute carrier family 22 member 18 antisense 9606.ENSP00000433295 KCNJ5 419 G protein-activated inward rectifier potassium channel 4; This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium; Belongs to the [...] 9606.ENSP00000433343 FAM118B 351 Protein FAM118B; May play a role in Cajal bodies formation; Belongs to the FAM118 family 9606.ENSP00000433352 LMO7 1385 LIM domain only protein 7; LIM domain containing 9606.ENSP00000433361 TMEM9B 198 Transmembrane protein 9B; Enhances production of proinflammatory cytokines induced by TNF, IL1B, and TLR ligands. Has a role in TNF activation of both the NF-kappaB and MAPK pathways; Belongs to the TMEM9 family 9606.ENSP00000433378 PCDHA6 950 Protocadherin alpha-6; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000433415 ENSG00000250741 602 NT5C1B-RDH14 readthrough 9606.ENSP00000433427 ARL15 204 ADP-ribosylation factor-like protein 15; ADP ribosylation factor like GTPase 15; ARF GTPase family 9606.ENSP00000433433 MAGEL2 1249 MAGE-like protein 2; Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys- 63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly. Regulates the circadian clock by repressing the transcriptional acti [...] 9606.ENSP00000433459 CREBZF 354 CREB/ATF bZIP transcription factor; Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in a HCFC1-dependent manner. Also suppresses the HCFC1- dependent transcriptional activation by CREB3 and reduces the amount of CREB3 in the cell. Able to down-regulate expression of some cellular genes in CREBZF-expressing cells; Belongs to the bZIP family. ATF subfamily 9606.ENSP00000433488 FLI1 452 Friend leukemia integration 1 transcription factor; Sequence-specific transcriptional activator. Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'; Belongs to the ETS family 9606.ENSP00000433490 CALCB 127 Calcitonin gene-related peptide 2; CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role; Endogenous ligands 9606.ENSP00000433511 GRK6 589 G protein-coupled receptor kinase 6; Specifically phosphorylates the activated forms of G protein-coupled receptors. Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their desensitization. Seems to be involved in the desensitization of D2-like dopamine receptors in striatum and chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis (By similarity). Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor: LRP6 during Wnt signaling (in vitro) 9606.ENSP00000433528 ST5 1137 Suppression of tumorigenicity 5 protein; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form. May be involved in cytoskeletal organization and tumorogenicity. Isoform 1 seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Isoform 3 may block ERK2 activation stimulated by ABL1. Isoform 3 may alter cell morphology and cell growth; DENN/MADD domain containing 9606.ENSP00000433560 CRYAB 175 Alpha-crystallin B chain; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions; Small heat shock proteins 9606.ENSP00000433597 NPIPA5 350 Nuclear pore complex interacting protein family member A5 9606.ENSP00000433623 TRAF6 522 TNF receptor-associated factor 6; E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as IKBKG, IRAK1, AKT1 and AKT2. Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation. Leads to the activation of NF-kappa-B and JUN. May be essential for the formation of functional osteoclasts. Seems to also play a role in dendritic cells (DCs) maturation and/or activation. Represses c- Myb-mediated transactivation, in B-lymphocytes. Adapter protein that see [...] 9606.ENSP00000433642 FCGR3B 269 Low affinity immunoglobulin gamma Fc region receptor III-B; Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils; CD molecules 9606.ENSP00000433646 C10orf113 155 Putative uncharacterized protein C10orf113; Chromosome 10 open reading frame 113 9606.ENSP00000433664 EIF4G2 907 Eukaryotic translation initiation factor 4 gamma 2; Appears to play a role in the switch from cap-dependent to IRES-mediated translation during mitosis, apoptosis and viral infection. Cleaved by some caspases and viral proteases 9606.ENSP00000433681 NCAPD3 1498 Condensin-2 complex subunit D3; Regulatory subunit of the condensin-2 complex, a complex which establishes mitotic chromosome architecture and is involved in physical rigidity of the chromatid axis; Armadillo-like helical domain containing 9606.ENSP00000433712 SPRN 151 Shadow of prion protein; Prion-like protein that has PrP(C)-like neuroprotective activity. May act as a modulator for the biological actions of normal and abnormal PrP (By similarity) 9606.ENSP00000433757 TTC12 705 Tetratricopeptide repeat domain containing 9606.ENSP00000433761 MS4A14 712 Membrane-spanning 4-domains subfamily A member 14; May be involved in signal transduction as a component of a multimeric receptor complex; Membrane spanning 4-domains 9606.ENSP00000433773 ZNF585B 769 Zinc finger protein 585B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000433816 TSPAN19 248 Putative tetraspanin-19; Tetraspanin 19; Tetraspanins 9606.ENSP00000433847 B3GAT1 334 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo- orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl- sphingomyelin was the most effective, followed by palmitoyl- sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, rega [...] 9606.ENSP00000433919 CLNS1A 237 Methylosome subunit pICln; Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm comple [...] 9606.ENSP00000433933 PNLIPRP1 467 Inactive pancreatic lipase-related protein 1; May function as inhibitor of dietary triglyceride digestion. Lacks detectable lipase activity towards triglycerides, diglycerides, phosphatidylcholine, galactolipids or cholesterol esters (in vitro) (By similarity); Belongs to the AB hydrolase superfamily. Lipase family 9606.ENSP00000433967 ENSG00000254692 815 Transmembrane 9 superfamily member 1; Plays an essential role in autophagy; Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family 9606.ENSP00000433999 RNH1 461 Ribonuclease inhibitor; Ribonuclease inhibitor which inhibits RNASE1, RNASE2 and ANG. May play a role in redox homeostasis 9606.ENSP00000434024 H2AFX 143 Histone H2AX; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low dose [...] 9606.ENSP00000434033 RAP1GAP 727 Rap1 GTPase-activating protein 1; GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state 9606.ENSP00000434034 FZD4 537 Frizzled-4; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulat [...] 9606.ENSP00000434045 GPR68 365 Ovarian cancer G-protein coupled receptor 1; Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Function also as a metastasis suppressor gene in prostate cancer (By similarity); Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000434142 TPD52L1 204 Tumor protein D52 like 1 9606.ENSP00000434241 KCNC3 757 Potassium voltage-gated channel subfamily C member 3; Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics. It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar [...] 9606.ENSP00000434279 TMPRSS13 567 Transmembrane protease serine 13; Scavenger receptor cysteine rich domain containing; Belongs to the peptidase S1 family 9606.ENSP00000434343 CYB5RL 315 NADH-cytochrome b5 reductase-like; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family 9606.ENSP00000434359 PUF60 559 Poly(U)-binding-splicing factor PUF60; DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group [...] 9606.ENSP00000434364 SLC6A5 797 Sodium- and chloride-dependent glycine transporter 2; Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily 9606.ENSP00000434399 NPIPB8 432 Nuclear pore complex interacting protein family member B8; Belongs to the NPIP family 9606.ENSP00000434412 SERPINH1 418 Serpin H1; Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen; Serpin peptidase inhibitors 9606.ENSP00000434435 FAM111A 611 Protein FAM111A; Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis. May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction 9606.ENSP00000434442 ARFGAP2 521 ADP-ribosylation factor GTPase-activating protein 2; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes; ArfGAPs 9606.ENSP00000434466 INTS4 963 Integrator complex subunit 4; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex; Armadillo-like helical domain containing 9606.ENSP00000434480 ACER3 267 Alkaline ceramidase 3; Hydrolyzes only phytoceramide into phytosphingosine and free fatty acid. Does not have reverse activity; Alkaline ceramidases 9606.ENSP00000434508 ENSG00000254469 207 Putative short transient receptor potential channel 2-like protein ; Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily 9606.ENSP00000434515 SLC43A3 504 Solute carrier family 43 member 3; Putative transporter; Belongs to the SLC43A transporter (TC 2.A.1.44) family 9606.ENSP00000434516 TXNRD1 649 Thioredoxin reductase 1, cytoplasmic; Isoform 1 may possess glutaredoxin activity as well as thioredoxin reductase activity and induces actin and tubulin polymerization, leading to formation of cell membrane protrusions. Isoform 4 enhances the transcriptional activity of estrogen receptors alpha and beta while isoform 5 enhances the transcriptional activity of the beta receptor only. Isoform 5 also mediates cell death induced by a combination of interferon-beta and retinoic acid; Glutaredoxin domain containing 9606.ENSP00000434552 MAML2 1156 Mastermind-like protein 2; Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3; Belongs to the mastermind family 9606.ENSP00000434570 ENSG00000214338 947 SOGA family member 3 9606.ENSP00000434602 C6orf141 244 Uncharacterized protein C6orf141; Chromosome 6 open reading frame 141 9606.ENSP00000434614 CDC27 830 Cell division cycle protein 27 homolog; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains 9606.ENSP00000434655 PCDHA8 950 Protocadherin alpha-8; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000434676 USP50 334 Inactive ubiquitin carboxyl-terminal hydrolase 50; Has no peptidase activity; Ubiquitin specific peptidases 9606.ENSP00000434724 CCDC90B 254 Coiled-coil domain-containing protein 90B, mitochondrial; Coiled-coil domain containing 90B 9606.ENSP00000434727 CCDC180 1701 Coiled-coil domain containing 180 9606.ENSP00000434729 ATP6V0B 261 V-type proton ATPase 21 kDa proteolipid subunit; Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; V-type ATPases 9606.ENSP00000434830 NRK 1582 Nik-related protein kinase; May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity) 9606.ENSP00000434847 TSKU 353 Tsukushin; Tsukushi, small leucine rich proteoglycan 9606.ENSP00000434849 LRRC24 513 Leucine-rich repeat-containing protein 24; Leucine rich repeat containing 24; I-set domain containing 9606.ENSP00000434887 THNSL1 743 Threonine synthase like 1 9606.ENSP00000434995 CLP1 425 Polyribonucleotide 5'-hydroxyl-kinase Clp1; Polynucleotide kinase that can phosphorylate the 5'- hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Plays a key role in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex: phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; this ph [...] 9606.ENSP00000435010 DEFB134 66 Beta-defensin 134; Has antibacterial activity; Defensins, beta 9606.ENSP00000435096 RPS25 125 Ribosomal protein S25 9606.ENSP00000435150 ENSG00000189367 694 Uncharacterized protein KIAA0408; KIAA0408 9606.ENSP00000435188 ENSG00000255432 99 Uncharacterized protein 9606.ENSP00000435189 RAB30 203 Ras-related protein Rab-30; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins; RAB, member RAS oncog [...] 9606.ENSP00000435210 BCLAF1 920 Bcl-2-associated transcription factor 1; Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA 9606.ENSP00000435233 TEAD1 426 Transcriptional enhancer factor TEF-1; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] 9606.ENSP00000435234 ZSCAN5C 496 Putative zinc finger and SCAN domain-containing protein 5C; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000435289 PAFAH1B2 229 Platelet-activating factor acetylhydrolase IB subunit beta; Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit 9606.ENSP00000435299 CRACR2B 399 EF-hand calcium-binding domain-containing protein 4A; Plays a role in store-operated Ca(2+) entry (SOCE); EF-hand domain containing 9606.ENSP00000435300 PCDHA4 947 Protocadherin alpha-4; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000435325 NPIPA8 369 Nuclear pore complex interacting protein family member A8 9606.ENSP00000435342 RTL1 1358 Retrotransposon-like protein 1; Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta; Retrotransposon Gag like 9606.ENSP00000435355 GJB7 223 Gap junction beta-7 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Beta-type (group I) subfamily 9606.ENSP00000435365 TOR1AIP1 584 Torsin-1A-interacting protein 1; Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina 9606.ENSP00000435370 FAU 133 Ubiquitin-like protein FUBI; FAU, ubiquitin like and ribosomal protein S30 fusion 9606.ENSP00000435373 CCNJ 383 Cyclin-J; Cyclin J; Cyclins 9606.ENSP00000435380 SLN 31 Sarcolipin; Reversibly inhibits the activity of ATP2A1 in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in muscle. Required for muscle-based, non-shivering thermogenesis (By similarity); Belongs to the sarcolipin family 9606.ENSP00000435412 RPS6KA1 744 Ribosomal protein S6 kinase alpha-1; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signaling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1, which results in the subsequent transcriptional activat [...] 9606.ENSP00000435416 OR5M1 315 Olfactory receptor 5M1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000435421 DDIAS 998 DNA damage-induced apoptosis suppressor protein; May be an anti-apoptotic protein involved in DNA repair or cell survival 9606.ENSP00000435460 LGALS8 359 Galectin 8; Galectins 9606.ENSP00000435466 KIRREL3 778 Kin of IRRE-like protein 3; Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target- specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic sup [...] 9606.ENSP00000435506 POLN 900 DNA polymerase nu; DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template. Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity. Error- prone DNA polymerase that preferentially misincorporates dT regardless of temp [...] 9606.ENSP00000435509 ZIC4 384 Zinc finger protein ZIC 4; Binds to DNA; Zinc fingers C2H2-type 9606.ENSP00000435550 ZC2HC1C 456 Zinc finger C2HC-type containing 1C; Belongs to the ZC2HC1 family 9606.ENSP00000435565 MROH1 1641 Maestro heat like repeat family member 1 9606.ENSP00000435582 AGBL2 902 Cytosolic carboxypeptidase 2; Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Does not show detyrosinase or deglycylase activities from the carboxy-terminus of tubulin 9606.ENSP00000435585 EPS8L2 715 Epidermal growth factor receptor kinase substrate 8-like protein 2; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity); Belongs to the EPS8 family 9606.ENSP00000435619 EID3 333 EP300-interacting inhibitor of differentiation 3; Tissue-specific component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination and mediates sumoylation of shelterin complex (telosome) components; Belongs to the NSE4 family 9606.ENSP00000435634 C1orf94 598 Uncharacterized protein C1orf94; Chromosome 1 open reading frame 94 9606.ENSP00000435637 CNTN5 1100 Contactin-5; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (By similarity); Fibronectin type III domain containing 9606.ENSP00000435648 GRIK4 956 Glutamate receptor ionotropic, kainate 4; Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists; Glutamate ionotropic receptor kainate type subunits 9606.ENSP00000435770 ASCL3 181 Achaete-scute homolog 3; Transcriptional repressor. Inhibits myogenesis (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000435777 RPS13 151 Ribosomal protein S13 9606.ENSP00000435835 EHF 322 ETS homologous factor; Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen- activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets- binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or an [...] 9606.ENSP00000435926 CELF1 512 CUGBP Elav-like family member 1; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon bu [...] 9606.ENSP00000435954 KCNV1 500 Potassium voltage-gated channel subfamily V member 1; Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes 9606.ENSP00000436004 OR5M10 315 Olfactory receptor 5M10; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000436005 TRAPPC4 219 Trafficking protein particle complex subunit 4; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Trafficking protein particle complex 9606.ENSP00000436042 PCDHA9 950 Protocadherin alpha-9; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000436047 ST3GAL4 333 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4; Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta- 1,4-GlcNAc-, and NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant; Belongs to the glycosyltransferase 29 family 9606.ENSP00000436049 EIF3M 374 Eukaryotic translation initiation factor 3 subunit M; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000436126 SAA2 122 Serum amyloid A-2 protein; Major acute phase reactant. Apolipoprotein of the HDL complex; Belongs to the SAA family 9606.ENSP00000436152 TP53I11 189 Tumor protein p53 inducible protein 11 9606.ENSP00000436212 ZNF707 371 Zinc finger protein 707; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000436262 KBTBD3 612 Kelch repeat and BTB domain containing 3 9606.ENSP00000436318 CCS 274 Copper chaperone for superoxide dismutase; Delivers copper to copper zinc superoxide dismutase (SOD1) 9606.ENSP00000436376 OMP 163 Olfactory marker protein; May act as a modulator of the olfactory signal- transduction cascade; Belongs to the olfactory marker protein family 9606.ENSP00000436424 OR4D10 311 Olfactory receptor 4D10; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000436426 PCDHA7 937 Protocadherin alpha-7; Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000436450 TAS2R46 309 Taste receptor type 2 member 46; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000436453 OR52I1 324 Olfactory receptor 52I1; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000436455 NUCB2 420 Nucleobindin-2; Calcium-binding protein. May have a role in calcium homeostasis; EF-hand domain containing 9606.ENSP00000436552 IGSF9B 1437 Protein turtle homolog B; Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development. May mediate homophilic cell adhesion; Fibronectin type III domain containing 9606.ENSP00000436557 PCDHA5 936 Protocadherin alpha-5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000436580 PRR23D2 279 Proline rich 23 domain containing 2 9606.ENSP00000436585 ECHDC1 307 Ethylmalonyl-CoA decarboxylase; Decarboxylases ethylmalonyl-CoA decarboxylase, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at lower level 9606.ENSP00000436596 TMEM218 115 Transmembrane protein 218; May be involved in ciliary biogenesis or function 9606.ENSP00000436604 GALNT4 578 Polypeptide N-acetylgalactosaminyltransferase 4; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates 'Thr-57' of SELPLG; Polypeptide N-acetylgalactosaminyltransferases 9606.ENSP00000436607 ADM 185 ADM; AM and PAMP are potent hypotensive and vasodilatator agents. Numerous actions have been reported most related to the physiologic control of fluid and electrolyte homeostasis. In the kidney, am is diuretic and natriuretic, and both am and pamp inhibit aldosterone secretion by direct adrenal actions. In pituitary gland, both peptides at physiologically relevant doses inhibit basal ACTH secretion. Both peptides appear to act in brain and pituitary gland to facilitate the loss of plasma volume, actions which complement their hypotensive effects in blood vessels; Endogenous ligands 9606.ENSP00000436621 C8orf82 216 UPF0598 protein C8orf82; Chromosome 8 open reading frame 82 9606.ENSP00000436679 NXF1 619 Nuclear RNA export factor 1; Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex. ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export 9606.ENSP00000436682 ARMS2 107 Age-related maculopathy susceptibility 2 9606.ENSP00000436691 CARD18 90 Caspase recruitment domain-containing protein 18; Inhibits generation of IL-1-beta by interacting with caspase-1 and preventing its association with RIP2. Down-regulates the release of IL1B; Caspase recruitment domain containing 9606.ENSP00000436714 HCAR3 387 Hydroxycarboxylic acid receptor 3; Receptor for 3-OH-octanoid acid mediates a negative feedback regulation of adipocyte lipolysis to counteract prolipolytic influences under conditions of physiological or pathological increases in beta-oxidation rates. Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet; Hydroxy-carboxylic acid receptors 9606.ENSP00000436767 ENSG00000254536 339 Mitochondrial GTPase 1; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity 9606.ENSP00000436768 SLC52A2 445 Solute carrier family 52, riboflavin transporter, member 2; Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin. Weakly inhibited by flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). In case of infection by retroviruses, acts as a cell receptor to retroviral envelopes similar to the porcine endogenous retrovirus (PERV-A) 9606.ENSP00000436773 KIAA0100 2235 Protein KIAA0100; May be involved in membrane trafficking; Belongs to the SABRE family 9606.ENSP00000436785 SLC35F2 374 Solute carrier family 35 member F2; Putative solute transporter 9606.ENSP00000436786 KMT2A 3972 Histone-lysine N-methyltransferase 2A; Histone methyltransferase that plays an essential role in early development and hematopoiesis. Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac). In the MLL1/MLL complex, it specifically mediates H3K4me, a specific tag for epigenetic transcriptional activation. Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity. Has no [...] 9606.ENSP00000436812 MUC5B 5762 Mucin-5B; Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus; Mucins 9606.ENSP00000436836 CACNG5 275 Voltage-dependent calcium channel gamma-5 subunit; Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity); Calcium channel auxiliary gamma subunits 9606.ENSP00000436848 C11orf48 263 LBH domain-containing protein 1; Chromosome 11 open reading frame 48 9606.ENSP00000436881 DBX1 343 Homeobox protein DBX1; Could have a role in patterning the central nervous system during embryogenesis. Has a key role in regulating the distinct phenotypic features that distinguish two major classes of ventral interneurons, V0 and V1 neurons. Regulates the transcription factor profile, neurotransmitter phenotype, intraspinal migratory path and axonal trajectory of V0 neurons, features that differentiate them from an adjacent set of V1 neurons (By similarity); NKL subclass homeoboxes and pseudogenes 9606.ENSP00000436891 PRR23D1 279 Proline-rich protein 23D1; Proline rich 23 domain containing 1; Belongs to the PRR23 family 9606.ENSP00000436897 SMIM3 60 Small integral membrane protein 3 9606.ENSP00000436901 DPF2 391 Zinc finger protein ubi-d4; May be a transcription factor required for the apoptosis response following survival factor withdrawal from myeloid cells. Might also have a role in the development and maturation of lymphoid cells; BAF complex 9606.ENSP00000436926 NFRKB 1324 Nuclear factor related to kappa-B-binding protein; Binds to the DNA consensus sequence 5'-GGGGAATCTCC-3'; Belongs to the NFRKB family 9606.ENSP00000436975 DNAAF3 608 Dynein assembly factor 3, axonemal; Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia; Belongs to the DNAAF3 family 9606.ENSP00000437041 CYB5R2 276 NADH-cytochrome b5 reductase 2; NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity). Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4- disulfophenyl]-2H tetrazolium monosodium salt (WST-1); Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family 9606.ENSP00000437073 MYO18A 2054 Unconventional myosin-XVIIIa; May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates t [...] 9606.ENSP00000437082 CHI3L2 390 Chitinase-3-like protein 2; Lectin that binds chitooligosaccharides and other glycans with high affinity, but not heparin. Has no chitinase activity; Belongs to the glycosyl hydrolase 18 family 9606.ENSP00000437121 C4orf50 750 Uncharacterized protein C4orf50; Chromosome 4 open reading frame 50 9606.ENSP00000437188 TIAM2 1701 T-lymphoma invasion and metastasis-inducing protein 2; Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP- dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Mediates extracellular laminin signals to activate Rac1, contributing to neurite growth. Involved in lamellipodial formation and advancement of the growth cone of embryonic hippocampal neurons. Promotes migration of neurons in the cerebral cortex. When overexpressed, induces membrane ruffling acc [...] 9606.ENSP00000437256 DICER1 1922 Endoribonuclease Dicer; Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA- induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, a [...] 9606.ENSP00000437271 TNKS1BP1 1729 182 kDa tankyrase-1-binding protein; Tankyrase 1 binding protein 1 9606.ENSP00000437289 ZAR1L 321 ZAR1-like protein; Zinc fingers 3CxxC-type; Belongs to the ZAR1 family 9606.ENSP00000437402 ENO2 434 Gamma-enolase; Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity); Enolases 9606.ENSP00000437409 GRAPL 118 GRB2-related adapter protein-like; GRB2 related adaptor protein like; SH2 domain containing 9606.ENSP00000437464 FBXL17 701 F-box/LRR-repeat protein 17; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and leucine rich repeat proteins 9606.ENSP00000437468 CCDC166 439 Coiled-coil domain containing 166 9606.ENSP00000437489 FZD3 666 Frizzled-3; Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to [...] 9606.ENSP00000437532 C16orf93 331 Coiled-coil domain-containing protein 189; Chromosome 16 open reading frame 93 9606.ENSP00000437550 LATS1 1130 Serine/threonine-protein kinase LATS1; Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus [...] 9606.ENSP00000437554 IQSEC3 1182 IQ motif and SEC7 domain-containing protein 3; Acts as a guanine nucleotide exchange factor (GEF) for ARF1 9606.ENSP00000437563 ENSG00000255641 240 NKG2-E type II integral membrane protein; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells 9606.ENSP00000437590 ZNF891 544 Zinc finger protein 891; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000437616 ZNF611 705 Zinc finger protein 611; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000437621 HMGA2 147 High mobility group protein HMGI-C; Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity); Belongs to the HMGA family 9606.ENSP00000437629 OR6J1 347 Olfactory receptor 6J1; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000437635 SLFN12L 588 Schlafen family member 12 like; Belongs to the Schlafen family 9606.ENSP00000437737 HTR2A 471 5-hydroxytryptamine receptor 2A; G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances, including mescaline, psilocybin, 1-(2,5-dimethoxy-4- iodophenyl)-2-aminopropane (DOI) and lysergic acid diethylamide (LSD). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. S [...] 9606.ENSP00000437738 SFSWAP 1003 Splicing factor, suppressor of white-apricot homolog; Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10 9606.ENSP00000437775 BCORL1 1711 BCL-6 corepressor-like protein 1; Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence- specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor; Belongs to the BCOR family 9606.ENSP00000437783 LDHC 332 L-lactate dehydrogenase C chain; Possible role in sperm motility 9606.ENSP00000437790 CDH22 828 Cadherin-22; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. PB-cadherins may have a role in the morphological organization of pituitary gland and brain tissues (By similarity) 9606.ENSP00000437803 C12orf43 252 Uncharacterized protein C12orf43; Chromosome 12 open reading frame 43 9606.ENSP00000437812 FAM106A 169 Protein FAM106A; Family with sequence similarity 106 member A; Belongs to the FAM106 family 9606.ENSP00000437832 ZNF641 438 Zinc finger protein 641; Transcriptional activator. Activates transcriptional activities of SRE and AP-1; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000437849 TRPM1 1642 Transient receptor potential cation channel subfamily M member 1; Cation channel essential for the depolarizing photoresponse of retinal ON bipolar cells. It is part of the GRM6 signaling cascade. May play a role in metastasis suppression (By similarity). May act as a spontaneously active, calcium-permeable plasma membrane channel; Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM1 sub-subfamily 9606.ENSP00000437872 GPRASP2 838 G-protein coupled receptor-associated sorting protein 2; May play a role in regulation of a variety of G-protein coupled receptors; Belongs to the GPRASP family 9606.ENSP00000437910 MTRNR2L5 24 Humanin-like 5; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000437940 CD19 557 B-lymphocyte antigen CD19; Assembles with the antigen receptor of B-lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation; CD molecules 9606.ENSP00000437955 HIF1A 850 Hypoxia-inducible factor 1-alpha; Functions as a master transcriptional regulator of the adaptive response to hypoxia. Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia res [...] 9606.ENSP00000437957 KIAA2012 1180 Uncharacterized protein KIAA2012 9606.ENSP00000437968 HEATR5A 2046 HEAT repeat-containing protein 5A; Armadillo-like helical domain containing 9606.ENSP00000438038 KLRC1 233 NKG2-A/NKG2-B type II integral membrane protein; Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells; C-type lectin domain containing 9606.ENSP00000438040 CCDC91 441 Coiled-coil domain-containing protein 91; Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes 9606.ENSP00000438042 SAMD8 415 Sphingomyelin synthase-related protein 1; Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early s [...] 9606.ENSP00000438085 GGA3 723 ADP-ribosylation factor-binding protein GGA3; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif 9606.ENSP00000438113 ENSG00000276418 248 Tumor protein D52 9606.ENSP00000438115 COPS7A 275 COP9 signalosome complex subunit 7a; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dep [...] 9606.ENSP00000438144 MDH1 352 Malate dehydrogenase, cytoplasmic; Malate dehydrogenase 1; Belongs to the LDH/MDH superfamily. MDH type 2 family 9606.ENSP00000438204 TOMM5 92 Mitochondrial import receptor subunit TOM5 homolog; Translocase of outer mitochondrial membrane complex 9606.ENSP00000438205 MANSC1 431 MANSC domain containing 1 9606.ENSP00000438209 SP6 376 Transcription factor Sp6; Promotes cell proliferation; Sp transcription factors 9606.ENSP00000438244 KLRF2 207 Killer cell lectin-like receptor subfamily F member 2; C-type lectin-like receptor involved in natural killer cell mediated cytotoxicity and cytokine secretion in keratinocytes via its interaction with CLEC2A 9606.ENSP00000438248 CALU 323 Calumenin; Involved in regulation of vitamin K-dependent carboxylation of multiple N-terminal glutamate residues. Seems to inhibit gamma-carboxylase GGCX. Binds 7 calcium ions with a low affinity (By similarity); Belongs to the CREC family 9606.ENSP00000438262 TJP2 1221 Tight junction protein ZO-2; Plays a role in tight junctions and adherens junctions; Belongs to the MAGUK family 9606.ENSP00000438264 LRIT2 560 Leucine rich repeat, Ig-like and transmembrane domains 2; I-set domain containing 9606.ENSP00000438273 BBS12 710 Bardet-Biedl syndrome 12 protein; Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation; Belongs to the TCP-1 chaperonin family. BBS12 subfamily 9606.ENSP00000438284 PDE10A 789 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. Can hydrolyze both cAMP and cGMP, but has higher affinity for cAMP and is more efficient with cAMP as substrate. May play a critical role in regulating cAMP and cGMP levels in the striatum, a region of the brain that contributes to the control of movement and cognition; Phosphodiesterases 9606.ENSP00000438293 MAGEA8 318 Melanoma-associated antigen 8; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression; MAGE family 9606.ENSP00000438346 REEP1 208 Receptor expression-enhancing protein 1; Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. May play a role in long-term axonal maintenance; Receptor accessory proteins 9606.ENSP00000438349 TRMT112 125 Multifunctional methyltransferase subunit TRM112-like protein; Acts as an activator of both rRNA/tRNA and protein methyltransferases. Together with methyltransferase BUD23, methylates the N(7) position of a guanine in 18S rRNA. The heterodimer with HEMK2/N6AMT1 catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosyl L- methionine as methyl donor. The heterodimer with ALKBH8 catalyzes the methylation of 5-carboxymethyl uridine to 5- methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA species. Involved in the pre-rRNA processing steps leading t [...] 9606.ENSP00000438388 KIF1A 1791 Kinesin-like protein KIF1A; Motor for anterograde axonal transport of synaptic vesicle precursors; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily 9606.ENSP00000438399 IST1 379 IST1 homolog; ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing. Regulates early endosomal tubulation together wi [...] 9606.ENSP00000438400 CLDN24 220 Putative claudin-24; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000438455 TIMM8B 98 Mitochondrial import inner membrane translocase subunit Tim8 B; Probable mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity) 9606.ENSP00000438465 PGAM5 289 Serine/threonine-protein phosphatase PGAM5, mitochondrial; Displays phosphatase activity for serine/threonine residues, and, dephosphorylates and activates MAP3K5 kinase. Has apparently no phosphoglycerate mutase activity. May be regulator of mitochondrial dynamics. Substrate for a KEAP1-dependent ubiquitin ligase complex. Contributes to the repression of NFE2L2- dependent gene expression. Acts as a central mediator for programmed necrosis induced by TNF, by reactive oxygen species and by calcium ionophore 9606.ENSP00000438468 HHAT 494 Protein-cysteine N-palmitoyltransferase HHAT; Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP; Belongs to the membrane-bound acyltransferase family. HHAT subfamily 9606.ENSP00000438483 KPNA2 529 Importin subunit alpha-1; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta ar [...] 9606.ENSP00000438492 RAB40C 281 Ras-related protein Rab-40C; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000438507 ENSG00000272822 210 Uncharacterized protein; Belongs to the small GTPase superfamily. Arf family 9606.ENSP00000438526 KLHL35 583 Kelch-like protein 35; Kelch like family member 35; BTB domain containing 9606.ENSP00000438527 ZC3H11A 810 Zinc finger CCCH domain-containing protein 11A; Involved in nuclear mRNA export; probably mediated by assoociation with the TREX complex; Zinc fingers CCCH-type 9606.ENSP00000438547 PLSCR3 295 Phospholipid scramblase 3; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system. Seems to play a role in apoptosis, through translocation of cardiolipin from the inner to the outer mitochondrial membrane which promotes BID recruitment and enhances tBid-induced mit [...] 9606.ENSP00000438553 H2AFJ 129 Histone H2A.J; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000438615 C1R 705 Complement C1r subcomponent; C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system; Belongs to the peptidase S1 family 9606.ENSP00000438689 ACADVL 678 Very long-chain specific acyl-CoA dehydrogenase, mitochondrial; Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons; Belongs to the acyl-CoA dehydrogenase family 9606.ENSP00000438748 SMG8 991 Protein SMG8; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity 9606.ENSP00000438757 PRR20C 221 Proline-rich protein 20A; Proline rich 20C 9606.ENSP00000438788 CUL7 1782 Cullin-7; Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5. Core component of a Cul7-RING ubiquitin-protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as [...] 9606.ENSP00000438815 OR13C2 318 Olfactory receptor 13C2; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000438863 TMEM206 411 Transmembrane protein 206 9606.ENSP00000438875 NOVA1 507 RNA-binding protein Nova-1; May regulate RNA splicing or metabolism in a specific subset of developing neurons 9606.ENSP00000438886 CDK5RAP3 531 CDK5 regulatory subunit-associated protein 3; Probable tumor suppressor initially identified as a CDK5R1 interactor controlling cell proliferation. Negatively regulates NF-kappa-B-mediated gene transcription through the control of RELA phosphorylation. Also regulates mitotic G2/M transition checkpoint and mitotic G2 DNA damage checkpoint. Through its interaction with CDKN2A/ARF and MDM2 may induce MDM2-dependent p53/TP53 ubiquitination, stabilization and activation in the nucleus, thereby promoting G1 cell cycle arrest and inhibition of cell proliferation. May play a role in the unfold [...] 9606.ENSP00000438949 CACNB4 520 Voltage-dependent L-type calcium channel subunit beta-4; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting 9606.ENSP00000438993 ZCCHC8 469 Zinc finger CCHC domain-containing protein 8; Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex, a complex that directs a subset of non- coding short-lived RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor SKIV2L2/MTR4, which links to RNA-binding protein adapters. May be involved in pre-mRNA splicing (Probable) 9606.ENSP00000439012 DBI 104 Acyl-CoA-binding protein; Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor 9606.ENSP00000439017 ZNF426 554 Zinc finger protein 426; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000439056 HAUS5 633 HAUS augmin-like complex subunit 5; Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex 9606.ENSP00000439065 ENSG00000256500 732 Uncharacterized protein; Kinesin light chain 1 9606.ENSP00000439068 CRADD 199 Death domain-containing protein CRADD; Apoptotic adaptor molecule specific for caspase-2 and FASL/TNF receptor-interacting protein RIP. In the presence of RIP and TRADD, CRADD recruits caspase-2 to the TNFR-1 signalling complex; Caspase recruitment domain containing 9606.ENSP00000439120 NFE2 373 Transcription factor NF-E2 45 kDa subunit; Component of the NF-E2 complex essential for regulating erythroid and megakaryocytic maturation and differentiation. Binds to the hypersensitive site 2 (HS2) of the beta-globin control region (LCR). This subunit (NFE2) recognizes the TCAT/C sequence of the AP-1-like core palindrome present in a number of erythroid and megakaryocytic gene promoters. Requires MAFK or other small MAF proteins for binding to the NF-E2 motif. May play a role in all aspects of hemoglobin production from globin and heme synthesis to procurement of iron; Basic leucine [...] 9606.ENSP00000439128 BANF2 97 Barrier-to-autointegration factor-like protein; May play a role in BANF1 regulation and influence tissue-specific roles of BANF1; Belongs to the BAF family 9606.ENSP00000439170 TBCE 578 Tubulin-specific chaperone E; Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network 9606.ENSP00000439182 MYO1H 1022 Unconventional myosin-Ih; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity); Myosins, class I 9606.ENSP00000439189 POTEE 1075 POTE ankyrin domain family member E; In the C-terminal section; belongs to the actin family 9606.ENSP00000439228 MTRNR2L1 24 Humanin-like 1; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000439244 CIZ1 954 Cip1-interacting zinc finger protein; May regulate the subcellular localization of CIP/WAF1 9606.ENSP00000439250 FKBP9 623 Peptidyl-prolyl cis-trans isomerase FKBP9; PPIases accelerate the folding of proteins during protein synthesis; EF-hand domain containing 9606.ENSP00000439281 TRDN 286 Triadin; Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation- contraction coupling in the heart and in regulating the rate of heart beats 9606.ENSP00000439287 RIMS4 270 Regulating synaptic membrane exocytosis protein 4; Regulates synaptic membrane exocytosis 9606.ENSP00000439378 SSUH2 375 Protein SSUH2 homolog; Plays a role in odontogenesis 9606.ENSP00000439402 ZNF667 610 Zinc finger protein 667; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000439403 ANAPC15 125 Anaphase-promoting complex subunit 15; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating in the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20 9606.ENSP00000439427 ZNF133 667 Zinc finger protein 133; May be involved in transcriptional regulation as a repressor; Zinc fingers C2H2-type 9606.ENSP00000439435 ZNF415 555 Zinc finger protein 415; Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP- 1 and p53/TP53; Zinc fingers C2H2-type 9606.ENSP00000439444 PPIAL4D 164 Peptidyl-prolyl cis-trans isomerase A-like 4D; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily 9606.ENSP00000439454 TARM1 271 T-cell-interacting, activating receptor on myeloid cells protein 1; May act as receptor (By similarity). Negatively regulates TCR-mediated CD4(+) T cell proliferation and activation, possibly by binding an unknown ligand on the T cell surface. Enhances Toll-like receptor-mediated production of pro-inflammatory cytokines by macrophages and neutrophils (By similarity); Immunoglobulin like domain containing 9606.ENSP00000439467 PDCD2 344 Programmed cell death protein 2; May be a DNA-binding protein with a regulatory function. May play an important role in cell death and/or in regulation of cell proliferation; Zinc fingers MYND-type 9606.ENSP00000439479 DMXL1 3048 DmX-like protein 1; WD repeat domain containing 9606.ENSP00000439513 ANHX 379 Anomalous homeobox 9606.ENSP00000439534 ENSG00000277737 165 annotation not available 9606.ENSP00000439585 ATXN7 945 Ataxin-7; Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization; Ataxins 9606.ENSP00000439601 HMHA1 1152 Rho GTPase-activating protein 45; Contains a GTPase activator for the Rho-type GTPases (RhoGAP) domain that would be able to negatively regulate the actin cytoskeleton as well as cell spreading. However, also contains N-terminally a BAR-domin which is able to play an autoinhibitory effect on this RhoGAP activity 9606.ENSP00000439625 PLEKHG5 1085 Pleckstrin homology domain-containing family G member 5; Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis; Pleckstrin homology domain containing 9606.ENSP00000439666 MTRNR2L8 24 MT-RNR2 like 8; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000439689 TRERF1 1220 Transcriptional-regulating factor 1; Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1; Myb/SANT domain containing 9606.ENSP00000439768 TMEM50B 158 Transmembrane protein 50B 9606.ENSP00000439782 ENSG00000269905 418 Transcription factor Dp-2; Can stimulate E2F-dependent transcription. Binds DNA cooperatively with E2F family members through the E2 recognition site, 5'-TTTC[CG]CGC-3', found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The TFDP2:E2F complex functions in the control of cell-cycle progression from G1 to S phase. The E2F1:DP complex appears to mediate both cell proliferation and apoptosis. Blocks adipocyte differentiation by repressing CEBPA binding to its target gene promoters 9606.ENSP00000439807 MPDZ 2041 Multiple PDZ domain protein; Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses 9606.ENSP00000439856 CHERP 916 Calcium homeostasis endoplasmic reticulum protein; Involved in calcium homeostasis, growth and proliferation; G-patch domain containing 9606.ENSP00000439913 ENSG00000278139 507 Uncharacterized protein; Phosphatidylinositol 3-kinase regulatory subunit gamma 9606.ENSP00000439937 HOMER3 361 Homer protein homolog 3; Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses; Belongs to the Homer family 9606.ENSP00000439985 MTRNR2L7 24 Humanin-like 7; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000440005 ARF1 181 ADP-ribosylation factor 1; GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking among different compartments. Modulates vesicle budding and uncoating within the Golgi complex. Deactivation induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, suggesting a crucial role in protein trafficking. In its GTP-bound form, its triggers the association with coat proteins with the Golgi membrane. The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs [...] 9606.ENSP00000440038 TCEANC 381 Transcription elongation factor A N-terminal and central domain containing 9606.ENSP00000440045 ATP2A2 1042 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform 2 is involved in the regulation of the contraction/relaxation cycle. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11- induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic [...] 9606.ENSP00000440077 CPNE6 612 Copine-6; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Binds phospholipid membranes in a calcium-dependent manner (By similarity). Plays a role in dendrite formation by melanocytes; Copines 9606.ENSP00000440125 FAM120B 933 Constitutive coactivator of peroxisome proliferator-activated receptor gamma; Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity); Belongs to the constitutive coactivator of PPAR-gamma family 9606.ENSP00000440163 FAM9A 332 Protein FAM9A; Family with sequence similarity 9 member A 9606.ENSP00000440167 RAB19 217 Ras-related protein Rab-19; RAB19, member RAS oncogene family; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000440185 PDYN 254 Proenkephalin-B; Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity); Belongs to the opioid neuropeptide precursor family 9606.ENSP00000440190 TDRD3 744 Tudor domain-containing protein 3; Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine- methylated loci. In cytoplasm, may play a role in the assembly and/or disassembly of mRNA stress granules and in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins; Tudor d [...] 9606.ENSP00000440207 TBC1D30 761 TBC1 domain family member 30; GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro 9606.ENSP00000440222 LUC7L2 458 Putative RNA-binding protein Luc7-like 2; May bind to RNA via its Arg/Ser-rich domain 9606.ENSP00000440246 ME3 604 NADP-dependent malic enzyme, mitochondrial; Malic enzyme 3; Belongs to the malic enzymes family 9606.ENSP00000440272 ENSG00000255767 34 Uncharacterized protein 9606.ENSP00000440273 SH2B2 675 SH2B adapter protein 2; Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3 9606.ENSP00000440288 ABCB9 766 ATP-binding cassette sub-family B member 9; ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored; Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily 9606.ENSP00000440331 ADIG 80 Adipogenin; Plays a role in stimulating adipocyte differentiation and development 9606.ENSP00000440365 ZNF124 351 Zinc finger protein 124; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000440374 MCF2L 1125 Guanine nucleotide exchange factor DBS; Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42; Pleckstrin homology domain containing 9606.ENSP00000440396 ANKRD49 239 Ankyrin repeat domain-containing protein 49; Induces HBG1 expression. May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF- kappaB pathway (By similarity); Ankyrin repeat domain containing 9606.ENSP00000440402 DDX11 970 ATP-dependent DNA helicase DDX11; DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis. Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single- stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction. The helicase activity is capable [...] 9606.ENSP00000440428 CLEC4C 213 C-type lectin domain family 4 member C; Lectin-type cell surface receptor which may play a role in antigen capturing by dendritic cells. Specifically recognizes non- sialylated galactose-terminated biantennary glycans containing the trisaccharide epitope Gal(beta1-3/4)GlcNAc(beta1-2)Man. Binds to serum IgG. Efficiently targets ligand into antigen- processing and peptide-loading compartments for presentation to T- cells. May mediate potent inhibition of induction of IFN-alpha/beta expression in plasmacytoid dendritic cells. May act as a signaling receptor that activates protein-tyrosine [...] 9606.ENSP00000440440 ATF7IP 1278 Activating transcription factor 7-interacting protein 1; Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. Required to stimulate histone methyltransferase activity of SETDB1 and facilitate the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses trans [...] 9606.ENSP00000440464 ZNF573 665 Zinc finger protein 573; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000440485 PSMD9 223 26S proteasome non-ATPase regulatory subunit 9; Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). During the base subcomplex assembly is part of an intermediate PSMD9:PSMC6:PSMC3 module, also known as modulator trimer complex; PSMD9 is released during the further base assembly process; PDZ domain containing 9606.ENSP00000440498 GDAP1L1 386 Ganglioside-induced differentiation-associated protein 1-like 1; Ganglioside induced differentiation associated protein 1 like 1 9606.ENSP00000440504 KIAA1958 744 Uncharacterized protein KIAA1958; KIAA1958 9606.ENSP00000440509 TIFAB 161 TRAF-interacting protein with FHA domain-containing protein B; Inhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA 9606.ENSP00000440556 GRM4 912 Metabotropic glutamate receptor 4; G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity; Glutamate metabotropic receptors 9606.ENSP00000440594 VNN3 500 Vascular non-inflammatory molecule 3; Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine; Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family 9606.ENSP00000440626 MYRFL 250 Myelin regulatory factor like 9606.ENSP00000440638 TMEM216 145 Transmembrane protein 216; Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition 9606.ENSP00000440643 TLR5 858 Toll-like receptor 5; Participates in the innate immune response to microbial agents. Mediates detection of bacterial flagellins. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response; Toll like receptors 9606.ENSP00000440674 PHC1 1004 Polyhomeotic-like protein 1; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression; Sterile alpha motif domain containing 9606.ENSP00000440689 CYP2E1 493 Cytochrome P450 2E1; Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms; Cytochrome P450 family 2 9606.ENSP00000440703 NPIPB5 1133 Nuclear pore complex interacting protein family member B5 9606.ENSP00000440704 SYTL1 562 Synaptotagmin-like protein 1; May play a role in vesicle trafficking (By similarity). Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes (By similarity); Synaptotagmin like tandem C2 proteins 9606.ENSP00000440765 C16orf13 205 Methyltransferase-like 26; Chromosome 16 open reading frame 13 9606.ENSP00000440832 CACFD1 233 Calcium channel flower domain containing 1 9606.ENSP00000440847 ZNF185 721 Zinc finger protein 185; May be involved in the regulation of cellular proliferation and/or differentiation; LIM domain containing 9606.ENSP00000440864 NR4A1 652 Nuclear receptor subfamily 4 group A member 1; Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'- AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation; Nuclear hormone receptors 9606.ENSP00000440896 PLD5 536 Inactive phospholipase D5; Phospholipase D family member 5; Belongs to the phospholipase D family 9606.ENSP00000440915 KIAA0391 583 Mitochondrial ribonuclease P catalytic subunit; Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP3, which cleaves tRNA molecules in their 5'-ends. The presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5'-ends 9606.ENSP00000440945 PACSIN3 424 Protein kinase C and casein kinase substrate in neurons protein 3; Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity); F-BAR domain containing 9606.ENSP00000440982 RASA4B 757 Ras GTPase-activating protein 4B; Pleckstrin homology domain containing; C2 and RasGAP domain containing 9606.ENSP00000440984 AP3B2 1101 AP-3 complex subunit beta-2; Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into [...] 9606.ENSP00000441000 VARS2 1093 Valine--tRNA ligase, mitochondrial; valyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class I 9606.ENSP00000441028 OBP2A 170 Odorant-binding protein 2a; Probably binds and transports small hydrophobic volatile molecules with a higher affinity for aldehydes and large fatty acids; Lipocalins 9606.ENSP00000441032 GRAMD1A 724 GRAM domain-containing protein 1A; May play a role in tumor progression; GRAM domain containing 9606.ENSP00000441039 GPR161 549 G-protein coupled receptor 161; Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signalin [...] 9606.ENSP00000441065 SLC16A1 500 Monocarboxylate transporter 1; Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to [...] 9606.ENSP00000441126 NDUFC1 76 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone; NADH:ubiquinone oxidoreductase supernumerary subunits 9606.ENSP00000441140 NOL8 1167 Nucleolar protein 8; Plays an essential role in the survival of diffuse-type gastric cancer cells. Acts as a nucleolar anchoring protein for DDX47. May be involved in regulation of gene expression at the post-transcriptional level or in ribosome biogenesis in cancer cells; RNA binding motif containing 9606.ENSP00000441158 CLTCL1 1640 Clathrin heavy chain 2; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity) 9606.ENSP00000441197 RHBG 458 Ammonium transporter Rh type B; Functions as a specific ammonium transporter; Solute carriers 9606.ENSP00000441214 USP36 1123 Ubiquitin carboxyl-terminal hydrolase 36; May be required for maintaining multiple types of adult stem cells. May function as a transcriptional repressor by continually deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, thereby preventing histone H3 'Lys-4' trimethylation (H3K4) (By similarity); Belongs to the peptidase C19 family 9606.ENSP00000441235 TSHR 764 Thyrotropin receptor; Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Plays a central role in controlling thyroid cell metabolism (By similarity); Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily 9606.ENSP00000441269 ENSG00000257046 748 Solute carrier organic anion transporter family member; Mediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver; Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000441283 CLDN2 230 Claudin-2; Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity; Claudins 9606.ENSP00000441354 OR4D2 307 Olfactory receptor 4D2; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000441365 MARVELD1 173 MARVEL domain-containing protein 1; Microtubule-associated protein that exhibits cell cycle- dependent localization and can inhibit cell proliferation and migration 9606.ENSP00000441381 MSLNL 752 Mesothelin-like protein; May play a role in cellular adhesion 9606.ENSP00000441405 ZNF664 261 Zinc finger protein 664; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000441410 ZNF135 682 Zinc finger protein 135; Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000441417 ARSE 614 Arylsulfatase E; May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates; Sulfatases 9606.ENSP00000441434 NNMT 264 Nicotinamide N-methyltransferase; Catalyzes the N-methylation of nicotinamide and other pyridines to form pyridinium ions. This activity is important for biotransformation of many drugs and xenobiotic compounds; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000441497 SERPINB11 392 Serpin B11; Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing conformational change; Serpin peptidase inhibitors 9606.ENSP00000441543 UBC 685 Polyubiquitin-C; Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; [...] 9606.ENSP00000441600 CCR3 376 C-C chemokine receptor type 3; Receptor for a C-C type chemokine. Binds to eotaxin, eotaxin-3, MCP-3, MCP-4, RANTES and MIP-1 delta. Subsequently transduces a signal by increasing the intracellular calcium ions level. Alternative coreceptor with CD4 for HIV-1 infection 9606.ENSP00000441624 TAS2R20 309 Taste receptor type 2 member 20; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000441641 PRR14 585 Proline-rich protein 14; Functions in tethering peripheral heterochromatin to the nuclear lamina during interphase, possibly through the interaction with heterochromatin protein CBX5/HP1 alpha. Might play a role in reattaching heterochromatin to the nuclear lamina at mitotic exit. Promotes myoblast differentiation during skeletal myogenesis, possibly by stimulating transcription factor MyoD activity via binding to CBX5/HP1 alpha. Involved in the positive regulation of the PI3K-Akt-mTOR signaling pathway and in promoting cell proliferation, possibly via binding to GRB2 9606.ENSP00000441685 PDZD9 204 PDZ domain containing 9 9606.ENSP00000441691 ITGAM 1153 Integrin alpha-M; Integrin ITGAM/ITGB2 is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is identical with CR-3, the receptor for the iC3b fragment of the third complement component. It probably recognizes the R-G-D peptide in C3b. Integrin ITGAM/ITGB2 is also a receptor for fibrinogen, factor X and ICAM1. It recognizes P1 and P2 peptides of fibrinogen gamma chain. Regulates neutrophil migration. In association with beta subunit ITGB2/CD18, required for CD177-PRTN3-mediated act [...] 9606.ENSP00000441726 CLUL1 518 Clusterin-like protein 1; Clusterin like 1 9606.ENSP00000441755 DYRK4 520 Dual specificity tyrosine-phosphorylation-regulated kinase 4; Possible non-essential role in spermiogenesis; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily 9606.ENSP00000441765 PTHLH 177 Parathyroid hormone-related protein; Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development, migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this increases the sensitivity o [...] 9606.ENSP00000441786 CXorf56 208 UPF0428 protein CXorf56; Chromosome X open reading frame 56; Spliceosomal C complex 9606.ENSP00000441802 PCDH7 1072 Protocadherin-7; Protein phosphatase 1 regulatory subunits; Non-clustered protocadherins 9606.ENSP00000441823 SALL3 1300 Sal-like protein 3; Probable transcription factor; Zinc fingers C2H2-type 9606.ENSP00000441828 HPR 348 Haptoglobin-related protein; Primate-specific plasma protein associated with apolipoprotein L-I (apoL-I)-containing high-density lipoprotein (HDL). This HDL particle, termed trypanosome lytic factor-1 (TLF- 1), mediates human innate immune protection against many species of African trypanosomes. Binds hemoglobin with high affinity and may contribute to the clearance of cell-free hemoglobin to allow hepatic recycling of heme iron; Sushi domain containing 9606.ENSP00000441831 FNDC3A 1198 Fibronectin type-III domain-containing protein 3A; Mediates spermatid-Sertoli adhesion during spermatogenesis; Belongs to the FNDC3 family 9606.ENSP00000441832 GPR19 415 Probable G-protein coupled receptor 19; Orphan receptor; G protein-coupled receptors, Class A orphans 9606.ENSP00000441838 ZNF567 647 Zinc finger protein 567; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000441858 DMXL2 3037 DmX-like protein 2; May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles. Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity); Deafness associated genes 9606.ENSP00000441875 PHB2 299 Prohibitin-2; Acts as a mediator of transcriptional repression by nuclear hormone receptors via recruitment of histone deacetylases (By similarity). Functions as an estrogen receptor (ER)-selective coregulator that potentiates the inhibitory activities of antiestrogens and represses the activity of estrogens. Competes with NCOA1 for modulation of ER transcriptional activity. Probably involved in regulating mitochondrial respiration activity and in aging 9606.ENSP00000441913 ARHGEF28 1731 Rho guanine nucleotide exchange factor 28; Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity) 9606.ENSP00000441927 SESN3 492 Sestrin-3; May function as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway. May also regulate the insulin-receptor signaling pathway through activation of TORC2 (By similarity). This metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity) 9606.ENSP00000441929 MUC12 5335 Mucin-12; Involved in epithelial cell protection, adhesion modulation, and signaling. May be involved in epithelial cell growth regulation. Stimulated by both cytokine TNF-alpha and TGF- beta in intestinal epithelium; Mucins 9606.ENSP00000441930 PIH1D3 214 Protein PIH1D3; Plays a role in cytoplasmic pre-assembly of axonemal dynein; Belongs to the PIH1 family 9606.ENSP00000441949 TAS2R14 317 Taste receptor type 2 member 14; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000441953 ORC4 436 Origin recognition complex subunit 4; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre- replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3; Belongs to the ORC4 family 9606.ENSP00000441954 SMAD5 465 Mothers against decapentaplegic homolog 5; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5 is a receptor-regulated SMAD (R-SMAD) 9606.ENSP00000441980 CEPT1 416 Choline/ethanolaminephosphotransferase 1; Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP- ethanolamine, respectively. Involved in protein-dependent process of phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity; Belongs to the CDP-alcohol phosphatidyltransferase class-I family 9606.ENSP00000442046 TMTC1 882 Transmembrane and tetratricopeptide repeat containing 1 9606.ENSP00000442050 PCYT2 407 Ethanolamine-phosphate cytidylyltransferase; Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP-ethanolamine 9606.ENSP00000442053 RBM19 960 Probable RNA-binding protein 19; Plays a role in embryo pre-implantation development; RNA binding motif containing 9606.ENSP00000442068 CDCA3 268 Cell division cycle-associated protein 3; F-box-like protein which is required for entry into mitosis. Acts by participating in E3 ligase complexes that mediate the ubiquitination and degradation of WEE1 kinase at G2/M phase (By similarity) 9606.ENSP00000442129 HDGFL1 251 Hepatoma-derived growth factor-like protein 1; Heparin binding growth factor family; Belongs to the HDGF family 9606.ENSP00000442157 PIANP 282 PILR alpha-associated neural protein; Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation 9606.ENSP00000442159 MTRNR2L10 24 Humanin-like 10; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000442291 IQCC 546 IQ motif containing C 9606.ENSP00000442304 FAM132B 354 Erythroferrone; Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake; Belongs to the adipolin/erythroferrone family 9606.ENSP00000442307 ECT2L 904 Epithelial cell-transforming sequence 2 oncogene-like; May act as a guanine nucleotide exchange factor (GEF); F-boxes other 9606.ENSP00000442308 NKRF 705 NF-kappa-B-repressing factor; Interacts with a specific negative regulatory element (NRE) 5'-AATTCCTCTGA-3' to mediate transcriptional repression of certain NK-kappa-B responsive genes. Involved in the constitutive silencing of the interferon beta promoter, independently of the virus-induced signals, and in the inhibition of the basal and cytokine-induced iNOS promoter activity. Also involved in the regulation of IL-8 transcription; G-patch domain containing 9606.ENSP00000442318 CAND1 1230 Cullin-associated NEDD8-dissociated protein 1; Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar r [...] 9606.ENSP00000442336 TOP3A 1001 DNA topoisomerase 3-alpha; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. [...] 9606.ENSP00000442373 ZDHHC11B 382 Probable palmitoyltransferase ZDHHC11B; Zinc finger DHHC-type containing 11B 9606.ENSP00000442382 JHDM3C 835 Lysine-specific demethylase 4C; Histone demethylase that specifically demethylates 'Lys- 9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate 9606.ENSP00000442397 SLC34A3 599 Sodium-dependent phosphate transport protein 2C; May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx; Solute carriers 9606.ENSP00000442400 KRTCAP3 240 Keratinocyte associated protein 3 9606.ENSP00000442424 IL22 179 Interleukin-22; Cytokine that contributes to the inflammatory response in vivo; Interleukins 9606.ENSP00000442439 MIXL1 240 Homeobox protein MIXL1; Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative regulator of brachyury expression (By similarity); PRD class homeoboxes and pseudogenes 9606.ENSP00000442453 ENSG00000259040 360 BLOC1S5-TXNDC5 readthrough 9606.ENSP00000442460 PTK6 451 Protein-tyrosine kinase 6; Non-receptor tyrosine-protein kinase implicated in the regulation of a variety of signaling pathways that control the differentiation and maintenance of normal epithelia, as well as tumor growth. Function seems to be context dependent and differ depending on cell type, as well as its intracellular localization. A number of potential nuclear and cytoplasmic substrates have been identified. These include the RNA-binding proteins: KHDRBS1/SAM68, KHDRBS2/SLM1, KHDRBS3/SLM2 and SFPQ/PSF; transcription factors: STAT3 and STAT5A/B and a variety of signaling molecule [...] 9606.ENSP00000442464 NCEH1 448 Neutral cholesterol ester hydrolase 1; Hydrolyzes 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor. May be responsible for cholesterol ester hydrolysis in macrophages, thereby contributing to the development of atherosclerosis. Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds. May contribute to cancer pathogenesis by promoting tumor cell migration 9606.ENSP00000442477 ASIC5 505 Acid-sensing ion channel 5; Cation channel that gives rise to very low constitutive currents in the absence of activation. The activated channel exhibits selectivity for sodium, and is inhibited by amiloride; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC5 subfamily 9606.ENSP00000442478 STOML1 398 Stomatin-like protein 1; May play a role in cholesterol transfer to late endosomes. May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation; Belongs to the band 7/mec-2 family 9606.ENSP00000442515 TTLL9 439 Probable tubulin polyglutamylase TTLL9; Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity); Tubulin tyrosine ligase family 9606.ENSP00000442521 BEX2 160 Protein BEX2; Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer. Protects the breast cancer cells against mitochondrial apoptosis and this effect is mediated through the modulation of BCL2 protein family, which involves the positive regulation of anti-apoptotic member BCL2 and the negative regulation of pro-apoptotic members BAD, BAK1 and PUMA. Required for the normal cell cycle progression during G1 in breast cancer cells through the regulation of CCND1 and CDKN1A. Regulates the level of PP2A regulatory subunit B and PP2A phosphatase activity; Belongs to the BEX family 9606.ENSP00000442563 POLG2 485 DNA polymerase subunit gamma-2, mitochondrial; Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA 9606.ENSP00000442573 ZNF668 642 Zinc finger protein 668; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000442600 DAG1 895 Dystroglycan; The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization 9606.ENSP00000442626 PRB3 351 Basic salivary proline-rich protein 3; Acts as a receptor for the Gram-negative bacterium F.nucleatum; Proline rich proteins 9606.ENSP00000442656 ACVR1B 546 Activin receptor type-1B; Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine [...] 9606.ENSP00000442682 ADAP1 385 Arf-GAP with dual PH domain-containing protein 1; GTPase-activating protein for the ADP ribosylation factor family (Probable). Binds phosphatidylinositol 3,4,5- trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4); ArfGAPs 9606.ENSP00000442688 MFSD5 557 Molybdate-anion transporter; Mediates high-affinity intracellular uptake of the rare oligo-element molybdenum; Belongs to the major facilitator superfamily 9606.ENSP00000442699 HTATSF1 755 HIV Tat-specific factor 1; Functions as a general transcription factor playing a role in the process of transcriptional elongation. May mediate the reciprocal stimulatory effect of splicing on transcriptional elongation. In case of infection by HIV-1, it is up-regulated by the HIV-1 proteins NEF and gp120, acts as a cofactor required for the Tat-enhanced transcription of the virus; RNA binding motif containing 9606.ENSP00000442736 PLXNB3 1932 Plexin-B3; Receptor for SEMA5A that plays a role in axon guidance, invasive growth and cell migration. Stimulates neurite outgrowth and mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1; Belongs to the plexin family 9606.ENSP00000442747 ENSG00000256632 121 Uncharacterized protein 9606.ENSP00000442770 GPN3 323 GPN-loop GTPase 3; Small GTPase required for proper localization of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import; Belongs to the GPN-loop GTPase family 9606.ENSP00000442786 LMO3 167 LIM domain only protein 3; LIM domain containing 9606.ENSP00000442788 TET2 2002 Methylcytosine dioxygenase TET2; Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5- hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5- formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the m [...] 9606.ENSP00000442793 BEAN1 259 Protein BEAN1; Brain expressed associated with NEDD4 1 9606.ENSP00000442795 MYBPC3 1274 Myosin-binding protein C, cardiac-type; Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role; Fibronectin type III domain containing 9606.ENSP00000442837 RGS13 159 Regulator of G-protein signaling 13; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to both G(i)-alpha and G(q)- alpha (By similarity); Regulators of G-protein signaling 9606.ENSP00000442924 SETD1B 1923 Histone-lysine N-methyltransferase SETD1B; Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys- 9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitro; Belongs t [...] 9606.ENSP00000442954 APC2 2303 Adenomatous polyposis coli protein 2; Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases. May also function in Wnt signaling by promoting the rapid degradation of CTNNB1; Belongs to the adenomatous polyposis coli (APC) family 9606.ENSP00000442973 DAPK3 454 Death-associated protein kinase 3; Serine/threonine kinase which is involved in the regulation of apoptosis, autophagy, transcription, translation and actin cytoskeleton reorganization. Involved in the regulation of smooth muscle contraction. Regulates both type I (caspase- dependent) apoptotic and type II (caspase-independent) autophagic cell deaths signal, depending on the cellular setting. Involved in regulation of starvation-induced autophagy. Regulates myosin phosphorylation in both smooth muscle and non-muscle cells. In smooth muscle, regulates myosin either directly by phosphory [...] 9606.ENSP00000442982 GPR17 367 Uracil nucleotide/cysteinyl leukotriene receptor; Dual specificity receptor for uracil nucleotides and cysteinyl leukotrienes (CysLTs). Signals through G(i) and inhibition of adenylyl cyclase. May mediate brain damage by nucleotides and CysLTs following ischemia; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000443017 HIST4H4 103 Histone cluster 4, H4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000443021 RASSF3 238 Ras association domain family member 3 9606.ENSP00000443113 ZCCHC7 543 Zinc finger CCHC-type containing 7 9606.ENSP00000443130 ENSG00000256591 163 Uncharacterized protein; Succinate dehydrogenase assembly factor 2, mitochondrial 9606.ENSP00000443133 FAM180B 201 Protein FAM180B; Family with sequence similarity 180 member B 9606.ENSP00000443168 STH 128 Saitohin 9606.ENSP00000443176 RSPRY1 576 Ring finger and SPRY domain containing 1 9606.ENSP00000443189 ENSG00000255863 62 Uncharacterized protein 9606.ENSP00000443191 KLHL13 658 Kelch-like protein 13; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis; BTB domain containing 9606.ENSP00000443194 NAT1 352 Arylamine N-acetyltransferase 1; Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens 9606.ENSP00000443204 C2CD5 1054 C2 domain-containing protein 5; Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM; C2 domain containing 9606.ENSP00000443216 TMEM258 79 Transmembrane protein 258; Acts as component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for full OST catalytic activity in N-glycosylation. Involved in endoplasmic reticulum (ER) homeostasis in the colonic epithelium (By similarity); Belongs to the TMEM258 family 9606.ENSP00000443246 ENSG00000255730 479 Uncharacterized protein; 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; Uncharacterized protein 9606.ENSP00000443256 LPAR2 351 Lysophosphatidic acid receptor 2; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Seems to be coupled to the G(i)/G(o), G(12)/G(13), and G(q) families of heteromeric G proteins. Plays a key role in phospholipase C-beta (PLC-beta) signaling pathway. Stimulates phospholipase C (PLC) activity in a manner that is independent of RALA activation 9606.ENSP00000443291 FAR2 515 Fatty acyl-CoA reductase 2; Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity can be observed with shorter fatty acyl-CoA substrates. It may play a role in the production of ether lipids/plasmalogens and wax monoesters which synthesis requires fatty alcohols as substrates (By similarity) 9606.ENSP00000443292 FAM222A 452 Protein FAM222A; Family with sequence similarity 222 member A; Belongs to the FAM222 family 9606.ENSP00000443319 PFKFB3 534 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3; Synthesis and degradation of fructose 2,6-bisphosphate; In the C-terminal section; belongs to the phosphoglycerate mutase family 9606.ENSP00000443339 MTRNR2L3 24 Humanin-like 3; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000443410 FAM46D 389 Putative nucleotidyltransferase FAM46D; Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase 9606.ENSP00000443411 FAM92B 304 Protein FAM92B; May play a role in ciliogenesis (By similarity). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis 9606.ENSP00000443432 IDO2 420 Indoleamine 2,3-dioxygenase 2; Catalyzes the first and rate limiting step of the catabolism of the essential amino acid tryptophan along the kynurenine pathway. Involved in immune regulation. May not play a significant role in tryptophan-related tumoral resistance 9606.ENSP00000443459 BCAT1 398 Branched-chain-amino-acid aminotransferase, cytosolic; Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine 9606.ENSP00000443495 ACTN2 894 Alpha-actinin-2; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein; Actinins 9606.ENSP00000443551 MVK 396 Mevalonate kinase; May be a regulatory site in cholesterol biosynthetic pathway; Belongs to the GHMP kinase family. Mevalonate kinase subfamily 9606.ENSP00000443598 FAM214A 1083 Protein FAM214A; Family with sequence similarity 214 member A; Belongs to the FAM214 family 9606.ENSP00000443631 PLCB3 1234 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes; C2 domain containing phospholipases 9606.ENSP00000443647 AUNIP 371 Aurora kinase A and ninein-interacting protein; DNA-binding protein that accumulates at DNA double- strand breaks (DSBs) following DNA damage and promotes DNA resection and homologous recombination. Serves as a sensor of DNA damage: binds DNA with a strong preference for DNA substrates that mimic structures generated at stalled replication forks, and anchors RBBP8/CtIP to DSB sites to promote DNA end resection and ensuing homologous recombination repair. Inhibits non-homologous end joining (NHEJ). Required for the dynamic movement of AURKA at the centrosomes and spindle apparatus durin [...] 9606.ENSP00000443654 TBC1D10C 446 Carabin; Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras 9606.ENSP00000443824 ZNRF3 936 E3 ubiquitin-protein ligase ZNRF3; E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non- canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone; Belongs to the ZNRF3 family 9606.ENSP00000443827 SP7 431 Transcription factor Sp7; Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity) 9606.ENSP00000443917 TEX40 158 Cation channel sperm-associated protein subunit zeta; Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for a distribution of the CatSper complex in linear quadrilateral nanodomains along the flagellum, maximizing fertilization inside the mammalian female reproductive tract 9606.ENSP00000443926 CELF2 521 CUGBP Elav-like family member 2; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes [...] 9606.ENSP00000443957 ZNF580 172 Zinc finger protein 580; Involved in the regulation of endothelial cell proliferation and migration. Mediates H(2)O(2)-induced leukocyte chemotaxis by elevating interleukin-8 production and may play a role in inflammation. May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000443985 CPEB2 1034 Cytoplasmic polyadenylation element-binding protein 2; May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers (By similarity). Required for cell cycle progression, specifically for the transition from metaphase to anaphase; Belongs to the RRM CPEB family 9606.ENSP00000443988 SUDS3 328 Sin3 histone deacetylase corepressor complex component SDS3; Regulatory protein which represses transcription and augments histone deacetylase activity of HDAC1. May have a potential role in tumor suppressor pathways through regulation of apoptosis. May function in the assembly and/or enzymatic activity of the mSin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes 9606.ENSP00000444029 NUP153 1506 Nuclear pore complex protein Nup153; Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with TPR, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Mediates TPR anchoring to the nuclear membrane at NPC. [...] 9606.ENSP00000444052 CES4A 468 Carboxylesterase 4A; Probable carboxylesterase; Carboxylesterases 9606.ENSP00000444054 OR52E8 317 Olfactory receptor 52E8; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000444096 NPIPB3 420 Nuclear pore complex interacting protein family member B3 9606.ENSP00000444134 OR7G1 311 Olfactory receptor 7G1; Odorant receptor; Olfactory receptors, family 7 9606.ENSP00000444136 POLR1B 1173 DNA-directed RNA polymerase I subunit RPA2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol I is composed of mobile elements and RPA2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity) 9606.ENSP00000444149 SLCO1C1 730 Solute carrier organic anion transporter family member 1C1; Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency. May play a signifiant role in regulating T4 flux into and out of the brain (By similarity); Belongs to the organo anion transporter (TC 2.A.60) family 9606.ENSP00000444156 ARMC6 501 Armadillo repeat containing 6 9606.ENSP00000444171 GALNT6 622 Polypeptide N-acetylgalactosaminyltransferase 6; Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor. May participate in synthesis of oncofetal fibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectin peptides; Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily 9606.ENSP00000444198 CITED2 275 Cbp/p300-interacting transactivator 2; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator- activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts [...] 9606.ENSP00000444201 SYT7 478 Synaptotagmin-7; Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory and synaptic vesicles through Ca(2+) and phospholipid binding to the C2 domain (By similarity). Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). SYT7 binds Ca(2+) with high affinity and slow kinetics compared to other synaptotagmins (By similarity). Involved in Ca(2+)-triggered lysosomal exocytosis, a major component of the plasma membrane repair. Ca(2+)- regulated delivery of lysosomal [...] 9606.ENSP00000444210 RAI2 530 Retinoic acid induced 2 9606.ENSP00000444211 PDGFRL 375 Platelet-derived growth factor receptor-like protein; Platelet derived growth factor receptor like; I-set domain containing 9606.ENSP00000444215 TNFAIP8L1 186 Tumor necrosis factor alpha-induced protein 8-like protein 1; Acts as a negative regulator of mTOR activity; Belongs to the TNFAIP8 family 9606.ENSP00000444278 PRRG1 218 Transmembrane gamma-carboxyglutamic acid protein 1; Proline rich and Gla domain containing 9606.ENSP00000444339 ZNF701 531 Zinc finger protein 701; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000444357 OTUB1 271 Ubiquitin thioesterase OTUB1; Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins and plays an important regulatory role at the level of protein turnover by preventing degradation. Regulator of T-cell anergy, a phenomenon that occurs when T-cells are rendered unresponsive to antigen rechallenge and no longer respond to their cognate antigen. Acts via its interaction with RNF128/GRAIL, a crucial inductor of CD4 T-cell anergy. Isoform 1 destabilizes RNF128, leading to prevent anergy. In contrast, isoform 2 stabilizes RNF128 and promotes anergy. Surpr [...] 9606.ENSP00000444408 SLC1A5 541 Neutral amino acid transporter B(0); Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids. Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development; Minor histocompatibility antigens 9606.ENSP00000444411 FRMPD1 1578 FERM and PDZ domain-containing protein 1; Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1; FERM domain containing 9606.ENSP00000444412 ZNF268 947 Zinc finger protein 268; Isoform 1: Acts as a transcriptional repressor. Inhibits erythroid differentiation and tumor cell proliferation. Plays a role during ovarian cancer development and progression; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000444433 SCO2 266 Protein SCO2 homolog, mitochondrial; Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2); Mitochondrial respiratory chain complex assembly factors 9606.ENSP00000444503 SEBOX 221 Homeobox protein SEBOX; Probable transcription factor involved in the control of specification of mesoderm and endoderm; PRD class homeoboxes and pseudogenes 9606.ENSP00000444533 KRT86 486 Keratin, type II cuticular Hb6; Keratins, type II 9606.ENSP00000444537 ARMCX6 300 Protein ARMCX6; May regulate the dynamics and distribution of mitochondria in neural cells; Armadillo repeat containing 9606.ENSP00000444561 TMEM14C 112 Transmembrane protein 14C; Required for normal heme biosynthesis 9606.ENSP00000444596 MYCBP2 4640 E3 ubiquitin-protein ligase MYCBP2; E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin. Interacts with the E2 enzymes UBE2D1, UBE2D3 and UBE2L3 (in vitro). May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis; Belongs to the highwire family 9606.ENSP00000444628 GLB1L2 636 Beta-galactosidase-1-like protein 2; Galactosidase beta 1 like 2 9606.ENSP00000444645 CYFIP2 1253 Cytoplasmic FMR1-interacting protein 2; Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity); Belongs to the CYFIP family 9606.ENSP00000444688 ATP1A3 1026 Sodium/potassium-transporting ATPase subunit alpha-3; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily 9606.ENSP00000444736 TAS2R30 319 Taste receptor type 2 member 30; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Belongs to the G-protein coupled receptor T2R family 9606.ENSP00000444743 SSH2 1450 Protein phosphatase Slingshot homolog 2; Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein; Slingshot protein phosphatases 9606.ENSP00000444747 ZNF835 537 Zinc finger protein 835; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000444788 TDO2 406 Tryptophan 2,3-dioxygenase; Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L- tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety 9606.ENSP00000444810 FKBP5 457 Peptidyl-prolyl cis-trans isomerase FKBP5; Immunophilin protein with PPIase and co-chaperone activities. Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). Plays a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors maintaining the complex into the cytoplasm when unliganded; FKBP prolyl isomerases 9606.ENSP00000444812 ZNF324 553 Zinc finger protein 324A; May be involved in transcriptional regulation. May be involved in regulation of cell proliferation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000444850 USO1 962 General vesicular transport factor p115; General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity; Armadillo-like helical domain containing 9606.ENSP00000444856 CUL2 758 Cullin-2; Core component of multiple cullin-RING-based ECS (ElonginB/C-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddy [...] 9606.ENSP00000444896 NUTM1 1160 NUT midline carcinoma family member 1 9606.ENSP00000444935 PAFAH1B3 231 Platelet-activating factor acetylhydrolase IB subunit gamma; Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain; Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily 9606.ENSP00000444948 KCNK4 393 Potassium channel subfamily K member 4; Voltage-insensitive potassium channel. Channel opening is triggered by mechanical forces that deform the membrane. Channel opening is triggered by raising the intracellular pH to basic levels (By similarity). The channel is inactive at 24 degrees Celsius (in vitro); raising the temperature to 37 degrees Celsius increases the frequency of channel opening, with a further increase in channel activity when the temperature is raised to 42 degrees Celsius (By similarity). Plays a role in the perception of pain caused by heat (By similarity). Plays a ro [...] 9606.ENSP00000444950 C21orf62 219 Uncharacterized protein C21orf62; Chromosome 21 open reading frame 62 9606.ENSP00000444957 AP1S2 160 AP-1 complex subunit sigma-2; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules; X-linked mental retardation 9606.ENSP00000444986 HCK 526 Tyrosine-protein kinase HCK; Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic p [...] 9606.ENSP00000445001 CPSF3L 606 Integrator complex subunit 11; Catalytic component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates the snRNAs 3' cleavage. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex; Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-l [...] 9606.ENSP00000445002 APOA5 366 Apolipoprotein A-V; Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and a inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages 9606.ENSP00000445043 FRY 3013 Protein furry homolog; Plays a crucial role in the structural integrity of mitotic centrosomes and in the maintenance of spindle bipolarity by promoting PLK1 activity at the spindle poles in early mitosis. May function as a scaffold promoting the interaction between AURKA and PLK1, thereby enhancing AURKA-mediated PLK1 phosphorylation; Belongs to the furry protein family 9606.ENSP00000445052 CTSV 334 Cathepsin L2; Cysteine protease. May have an important role in corneal physiology; Belongs to the peptidase C1 family 9606.ENSP00000445077 EIF2S3L 472 Putative eukaryotic translation initiation factor 2 subunit 3-like protein; As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GD [...] 9606.ENSP00000445122 HSD3B2 372 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000445135 NLRP2 1062 NACHT, LRR and PYD domains-containing protein 2; Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature proinflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of proinflammatory caspases; NLR family 9606.ENSP00000445162 GTF2H3 308 General transcription factor IIH subunit 3; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Anchors XPB; General transcription factors 9606.ENSP00000445175 LDHA 361 Lactate dehydrogenase A; Belongs to the LDH/MDH superfamily. LDH family 9606.ENSP00000445247 PRR19 356 Proline-rich protein 19; Proline rich 19 9606.ENSP00000445306 ATP1A1 1023 Sodium/potassium-transporting ATPase subunit alpha-1; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients; ATPase Na+/K+ transporting subunits 9606.ENSP00000445340 SLC5A8 610 Sodium-coupled monocarboxylate transporter 1; Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D- hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1. Catalyzes passive carrier mediated diffusion of iodide. Med [...] 9606.ENSP00000445359 ATP8B1 1251 Phospholipid-transporting ATPase IC; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile a [...] 9606.ENSP00000445366 DND1 353 Dead end protein homolog 1; RNA-binding factor that positively regulates gene expression by prohibiting miRNA-mediated gene suppression. Relieves miRNA repression in germline cells (By similarity). Prohibits the function of several miRNAs by blocking the accessibility of target mRNAs. Sequence-specific RNA-binding factor that binds specifically to U-rich regions (URRs) in the 3' untranslated region (3'-UTR) of several mRNAs. Does not bind to miRNAs. May play a role during primordial germ cell (PGC) survival (By similarity). However, does not seem to be essential for PGC migration (By s [...] 9606.ENSP00000445381 PIK3C2G 1486 Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. May play a role in SDF1A-stimulated chemotaxis (By similarity); Belongs to the PI3/PI4-kinase family 9606.ENSP00000445383 OR10G2 310 Olfactory receptor 10G2; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000445408 RABEP1 862 Rab GTPase-binding effector protein 1; Rab effector protein acting as linker between gamma- adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane. Stimulates RABGEF1 mediated nucleotide exchange on RAB5A; Belongs to the rabaptin family 9606.ENSP00000445418 FAM90A1 464 Protein FAM90A1; Family with sequence similarity 90 member A1 9606.ENSP00000445440 PHKG1 419 Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform; Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity) 9606.ENSP00000445446 C3orf33 251 Protein C3orf33; Isoform 2: Secreted protein may play a role in transcription regulation via the MAPK3/MAPK1 pathway through an unidentified receptor on the plasma membrane 9606.ENSP00000445508 CNOT4 713 CCR4-NOT transcription complex subunit 4; Has E3 ubiquitin ligase activity. Involved in activation of the JAK/STAT pathway; CCR4-NOT transcription complex 9606.ENSP00000445626 EGR4 589 Early growth response protein 4; Transcriptional regulator. Recognizes and binds to the DNA sequence 5'-GCGGGGGCG-3' (GSG). Activates the transcription of target genes whose products are required for mitogenesis and differentiation (By similarity); Zinc fingers C2H2-type 9606.ENSP00000445633 HIST1H2BG 126 Histone cluster 1 H2B family member g; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000445675 PRAME 509 Melanoma antigen preferentially expressed in tumors; Functions as a transcriptional repressor, inhibiting the signaling of retinoic acid through the retinoic acid receptors RARA, RARB and RARG. Prevents retinoic acid-induced cell proliferation arrest, differentiation and apoptosis; PRAME family 9606.ENSP00000445683 GPRASP1 1395 G-protein coupled receptor-associated sorting protein 1; Modulates lysosomal sorting and functional down- regulation of a variety of G-protein coupled receptors. Targets receptors for degradation in lysosomes via its interaction with BECN2; Armadillo repeat containing 9606.ENSP00000445688 ANKRD65 399 Ankyrin repeat domain-containing protein 65; Ankyrin repeat domain containing 9606.ENSP00000445704 PCGF5 256 Polycomb group RING finger protein 5; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity. Plays a redundant role with PCGF3 as part of a PRC1-like complex that mediates mon [...] 9606.ENSP00000445725 RNF170 258 E3 ubiquitin-protein ligase RNF170; E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells; Ring finger proteins 9606.ENSP00000445768 KIAA1147 455 Protein LCHN; May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia 9606.ENSP00000445772 LTB4R2 358 Leukotriene B4 receptor 2; Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G-proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3 9606.ENSP00000445786 FAM216B 139 Protein FAM216B; Family with sequence similarity 216 member B; Belongs to the FAM216 family 9606.ENSP00000445806 TIMM50 456 Mitochondrial import inner membrane translocase subunit TIM50; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal body; Belongs to the TIM50 family 9606.ENSP00000445829 SLC39A11 342 Zinc transporter ZIP11; Functions as a cellular zinc transporter; Solute carriers 9606.ENSP00000445831 HIST2H2BF 134 Histone H2B type 2-F; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000445868 BCL7A 231 B-cell CLL/lymphoma 7 protein family member A; BCL tumor suppressor 7A; BAF complex 9606.ENSP00000445905 EVI5L 805 EVI5-like protein; Functions as a GTPase-activating protein (GAP) with a broad specificity 9606.ENSP00000445920 MMAB 250 Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA; Cilia and flagella associated 9606.ENSP00000445929 SLC2A14 535 Solute carrier family 2, facilitated glucose transporter member 14; Facilitative glucose transporter (By similarity). May have a specific function related to spermatogenesis; Solute carriers 9606.ENSP00000445979 ZNF623 536 Zinc finger protein 623; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000446007 VIM 466 Vimentin; Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally 9606.ENSP00000446054 BEX5 111 Protein BEX5; Brain expressed X-linked family; Belongs to the BEX family 9606.ENSP00000446058 SHD 340 SH2 domain-containing adapter protein D; May function as an adapter protein; SH2 domain containing 9606.ENSP00000446093 TUBGCP2 930 Gamma-tubulin complex component 2; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome 9606.ENSP00000446099 RBMXL1 390 RNA binding motif protein, X-linked-like-1; RNA-binding protein which may be involved in pre-mRNA splicing 9606.ENSP00000446100 CMIP 773 C-Maf-inducing protein; Plays a role in T-cell signaling pathway. Isoform 2 may play a role in T-helper 2 (Th2) signaling pathway and seems to represent the first proximal signaling protein that links T-cell receptor-mediated signal to the activation of c-Maf Th2 specific factor 9606.ENSP00000446101 C12orf56 622 Uncharacterized protein C12orf56; Chromosome 12 open reading frame 56 9606.ENSP00000446121 LIMS1 387 LIM and senescent cell antigen-like-containing domain protein 1; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Involved in the regulation of cell survival, cell proliferation and cell differentiation; LIM domain containing 9606.ENSP00000446184 RRP12 1297 RRP12-like protein; Armadillo-like helical domain containing 9606.ENSP00000446205 HES7 230 Transcription factor HES-7; Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000446215 RAN 216 GTP-binding nuclear protein Ran; GTPase involved in nucleocytoplasmic transport, participating both to the import and the export from the nucleus of proteins and RNAs. Switches between a cytoplasmic GDP- and a nuclear GTP-bound state by nucleotide exchange and GTP hydrolysis. Nuclear import receptors such as importin beta bind their substrates only in the absence of GTP-bound RAN and release them upon direct interaction with GTP-bound RAN while export receptors behave in the opposite way. Thereby, RAN controls cargo loading and release by transport receptors in the proper compartment a [...] 9606.ENSP00000446224 ZNF550 422 Zinc finger protein 550; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000446242 SLC25A10 406 Mitochondrial dicarboxylate carrier; Involved in translocation of malonate, malate and succinate in exchange for phosphate, sulfate, sulfite or thiosulfate across mitochondrial inner membrane; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000446252 SOD2 222 Superoxide dismutase [Mn], mitochondrial; Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems 9606.ENSP00000446271 LSM14A 463 Protein LSM14 homolog A; Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for non-translating mRNAs; LSm proteins 9606.ENSP00000446278 LRTM2 370 Leucine rich repeats and transmembrane domains 2 9606.ENSP00000446280 PCSK5 1860 Proprotein convertase subtilisin/kexin type 5; Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive and regulated secretory pathways. Plays an essential role in pregnancy establishment by proteolytic activation of a number of important factors such as BMP2, CALD1 and alpha-integrins; Belongs to the peptidase S8 family 9606.ENSP00000446335 ZNF362 420 Zinc finger protein 362; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000446460 GCSAML 135 Germinal center associated signaling and motility like 9606.ENSP00000446479 FICD 458 Adenosine monophosphate-protein transferase FICD; Adenylyltransferase that mediates the addition of adenosine 5'-monophosphate (AMP) to specific residues of target proteins. Able to inactivate Rho GTPases in vitro by adding AMP to RhoA, Rac and Cdc42. It is however unclear whether it inactivates GTPases in vivo and physiological substrates probably remain to be identified 9606.ENSP00000446485 GTSF1 167 Gametocyte-specific factor 1; Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells 9606.ENSP00000446524 COX14 57 Cytochrome c oxidase assembly protein COX14; Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1 9606.ENSP00000446680 HOXC11 304 Homeobox protein Hox-C11; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene; HOXL subclass homeoboxes 9606.ENSP00000446688 PCED1B 432 PC-esterase domain containing 1B; Belongs to the PC-esterase family 9606.ENSP00000446743 ENSG00000144785 263 Uncharacterized protein 9606.ENSP00000446828 BPNT1 308 3'(2'),5'-bisphosphate nucleotidase 1; Converts adenosine 3'-phosphate 5'-phosphosulfate (PAPS) to adenosine 5'-phosphosulfate (APS) and 3'(2')-phosphoadenosine 5'- phosphate (PAP) to AMP. Has 1000-fold lower activity towards inositol 1,4-bisphosphate (Ins(1,4)P2) and inositol 1,3,4- trisphosphate (Ins(1,3,4)P3), but does not hydrolyze Ins(1)P, Ins(3,4)P2, Ins(1,3,4,5)P4 or InsP6; Belongs to the inositol monophosphatase superfamily 9606.ENSP00000446830 DNAJC22 341 DnaJ homolog subfamily C member 22; May function as a co-chaperone; DNAJ heat shock proteins 9606.ENSP00000446872 GATC 136 Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial; Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu- tRNA(Gln); Belongs to the GatC family 9606.ENSP00000446874 ENSG00000265590 297 Uncharacterized protein 9606.ENSP00000446880 BAZ2A 1905 Bromodomain adjacent to zinc finger domain protein 2A; Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H [...] 9606.ENSP00000446882 NPIPA2 350 Nuclear pore complex interacting protein family member A2 9606.ENSP00000446902 NPIPB9 429 Nuclear pore complex interacting protein family member B9; Belongs to the NPIP family 9606.ENSP00000446916 PRSS58 241 Serine protease 58; Belongs to the peptidase S1 family 9606.ENSP00000446917 APPL2 670 DCC-interacting protein 13-beta; Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction; BAR-PH domain containing 9606.ENSP00000446955 MYL6 151 Myosin light polypeptide 6; Regulatory light chain of myosin. Does not bind calcium; EF-hand domain containing 9606.ENSP00000447000 ENSG00000257390 523 Uncharacterized protein 9606.ENSP00000447001 RPL18 188 60S ribosomal protein L18; Component of the large ribosomal subunit; Belongs to the eukaryotic ribosomal protein eL18 family 9606.ENSP00000447006 CNTN1 1018 Contactin-1; Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurit [...] 9606.ENSP00000447053 RAB5C 249 Ras-related protein Rab-5C; Protein transport. Probably involved in vesicular traffic (By similarity); RAB, member RAS oncogene GTPases 9606.ENSP00000447056 ENSG00000203546 67 Uncharacterized protein 9606.ENSP00000447057 C12orf45 185 Uncharacterized protein C12orf45; Chromosome 12 open reading frame 45 9606.ENSP00000447091 SLC8B1 584 Mitochondrial sodium/calcium exchanger protein; Mitochondrial sodium/calcium antiporter that mediates sodium-dependent calcium efflux from mitochondrion, by mediating the exchange of 3 sodium ions per 1 calcium ion. Plays a central role in mitochondrial calcium homeostasis by mediating mitochondrial calcium extrusion: calcium efflux is essential for mitochondrial function and cell survival, notably in cardiomyocytes (By similarity). Regulates rates of glucose-dependent insulin secretion in pancreatic beta-cells during the first phase of insulin secretion: acts by mediating efflux of ca [...] 9606.ENSP00000447121 ENSG00000125954 471 cDNA FLJ59570, highly similar to Protein farnesyltransferase subunit beta (EC 2.5.1.58); CHURC1-FNTB readthrough 9606.ENSP00000447146 C12orf77 145 Putative uncharacterized protein C12orf77; Chromosome 12 open reading frame 77 9606.ENSP00000447149 NR1H4 486 Bile acid receptor; Isoform 4: Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, ACA and DCA), NR0B2/SHP (inducible by unconjugated CDCA, ACA and DCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; most efficient isoform compared to isoforms 1 to 3; not inducible by taurine- and glycine-amidated CDCA; Belongs to the nuclear hormone receptor family. NR1 subfamily 9606.ENSP00000447173 VDR 477 Vitamin D3 receptor; Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes. Recruited to promoters via its interaction with BAZ1B/WSTF which mediates the interaction with acetylated histones, an essential step for VDR-promoter association. Plays a central role in calcium homeostasis; Belon [...] 9606.ENSP00000447241 FRS2 508 Fibroblast growth factor receptor substrate 2; Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3- kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1 9606.ENSP00000447300 RAB3IP 476 Rab-3A-interacting protein; Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface form [...] 9606.ENSP00000447378 MGAM 1857 Maltase-glucoamylase, intestinal; May serve as an alternate pathway for starch digestion when luminal alpha-amylase activity is reduced because of immaturity or malnutrition. May play a unique role in the digestion of malted dietary oligosaccharides used in food manufacturing 9606.ENSP00000447431 LOC93432 482 Probable maltase-glucoamylase 2; Homo sapiens maltase-glucoamylase (alpha-glucosidase) (LOC93432), mRNA 9606.ENSP00000447488 LIN7A 233 Protein lin-7 homolog A; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may funct [...] 9606.ENSP00000447537 BLOC1S1 153 Biogenesis of lysosome-related organelles complex 1 subunit 1; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. As part of the BORC complex may play a role in lysosomes movemen [...] 9606.ENSP00000447597 NPIPB12 595 Nuclear pore complex-interacting protein family member B4; Nuclear pore complex-interacting protein family member B5; Protein LOC101929910; Uncharacterized protein 9606.ENSP00000447650 RT14 122 Uncharacterized protein; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphe [...] 9606.ENSP00000447651 MTERF2 385 Transcription termination factor 2, mitochondrial; Binds mitochondrial DNA and plays a role in the regulation of transcription of mitochondrial mRNA and rRNA species; Belongs to the mTERF family 9606.ENSP00000447679 INAFM1 142 Putative transmembrane protein INAFM1; InaF motif containing 1 9606.ENSP00000447730 CD63 238 CD63 antigen; Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal tr [...] 9606.ENSP00000447731 TMEM116 337 Transmembrane protein 116 9606.ENSP00000447852 ENSG00000259075 575 Polypeptide N-acetylgalactosaminyltransferase; POC1B-GALNT4 readthrough 9606.ENSP00000447879 ZBED6 979 Zinc finger BED domain-containing protein 6; Transcriptional repressor which binds to the consensus sequence 5'-GCTCGC-3' and represses transcription of IGF2. May also regulate expression of other target genes containing this consensus binding site (By similarity); DNA transposon derived genes 9606.ENSP00000447931 ZNF878 531 Zinc finger protein 878; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000447942 PFDN5 154 Prefoldin subunit 5; Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC; Belongs to the prefoldin subunit alpha family 9606.ENSP00000448012 CEP290 2479 Centrosomal protein of 290 kDa; Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Required for the correct localization of ciliary and phototransduction proteins in retinal photorecepto [...] 9606.ENSP00000448035 NACA 925 Nascent polypeptide-associated complex subunit alpha, muscle-specific form; Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organized assembly of thick and thin filaments of myofibril sarcomeres (By similarity) 9606.ENSP00000448051 DAZAP2 207 DAZ associated protein 2 9606.ENSP00000448054 NUP37 326 Nucleoporin Nup37; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation; Nucleoporins 9606.ENSP00000448059 PAH 452 Phenylalanine-4-hydroxylase; Phenylalanine hydroxylase 9606.ENSP00000448062 POTEG 508 POTE ankyrin domain family member G; Belongs to the POTE family 9606.ENSP00000448073 PRPF40B 892 Pre-mRNA-processing factor 40 homolog B; May be involved in pre-mRNA splicing 9606.ENSP00000448083 TPCN1 888 Two pore calcium channel protein 1; Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal and endosomal membrane; Two pore segment channels 9606.ENSP00000448165 APAF1 1248 Apoptotic protease-activating factor 1; Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP. Isoform 6 is less effective in inducing apoptosis; Apoptosome 9606.ENSP00000448182 TBC1D15 691 TBC1 domain family member 15; Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity) 9606.ENSP00000448219 TAS2R38 333 Taste receptor type 2 member 38; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity); Taste 2 receptors 9606.ENSP00000448220 KRT4 520 Keratin, type II cytoskeletal 4; Keratins, type II; Belongs to the intermediate filament family 9606.ENSP00000448228 SPATS2 545 Spermatogenesis-associated serine-rich protein 2; Spermatogenesis associated serine rich 2 9606.ENSP00000448248 GLIPR1L2 344 GLIPR1-like protein 2; GLI pathogenesis related family 1; Belongs to the CRISP family 9606.ENSP00000448310 BEST2 509 Bestrophin-2; Forms calcium-sensitive chloride channels. Permeable to bicarbonate; Bestrophins 9606.ENSP00000448323 BRF1 677 Transcription factor IIIB 90 kDa subunit; General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter 9606.ENSP00000448517 CPM 443 Carboxypeptidase M; Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins; Belongs to the peptidase M14 family 9606.ENSP00000448536 C12orf75 63 Overexpressed in colon carcinoma 1 protein; Chromosome 12 open reading frame 75 9606.ENSP00000448580 SPIC 248 Transcription factor Spi-C; Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis. Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a lymphoid-specific enhancer. Regulates VCAM1 gene expression (By similarity); Belongs to the ETS family 9606.ENSP00000448598 C17orf49 192 Chromatin complexes subunit BAP18; Component of chromatin complexes such as the MLL1/MLL and NURF complexes; Myb/SANT domain containing 9606.ENSP00000448665 DDIT3 192 DNA damage-inducible transcript 3 protein; Multifunctional transcription factor in ER stress response. Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress. Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes. Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression [...] 9606.ENSP00000448680 RITA1 293 RBPJ-interacting and tubulin-associated protein 1; Tubulin-binding protein that acts as a negative regulator of Notch signaling pathway. Shuttles between the cytoplasm and the nucleus and mediates the nuclear export of RBPJ/RBPSUH, thereby preventing the interaction between RBPJ/RBPSUH and NICD product of Notch proteins (Notch intracellular domain), leading to down-regulate Notch-mediated transcription. May play a role in neurogenesis 9606.ENSP00000448689 MAP3K12 892 Mitogen-activated protein kinase kinase kinase 12; May be an activator of the JNK/SAPK pathway. Phosphorylates beta-casein, histone 1 and myelin basic protein in vitro; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily 9606.ENSP00000448696 DTX3 350 Probable E3 ubiquitin-protein ligase DTX3; Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context (By similarity). Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity; Ring finger proteins 9606.ENSP00000448785 METTL7A 244 Methyltransferase-like protein 7A; Probable methyltransferase 9606.ENSP00000448789 OR9A4 314 Olfactory receptor 9A4; Odorant receptor; Olfactory receptors, family 9 9606.ENSP00000448811 OR6C68 312 Olfactory receptor 6C68; Odorant receptor; Olfactory receptors, family 6 9606.ENSP00000448841 NPIPA3 350 Nuclear pore complex interacting protein family member A3; Belongs to the NPIP family 9606.ENSP00000448955 GAS2L3 694 GAS2-like protein 3; Cytoskeletal linker protein. May promote and stabilize the formation of the actin and microtubule network; Belongs to the GAS2 family 9606.ENSP00000448998 CYP4F12 524 Cytochrome P450 4F12; Catalyzes leukotriene B4 omega-hydroxylation and arachidonic acid omega-hydroxylation but with an activity much lower than that of CYP4F2. Catalyzes the hydroxylation of the antihistamine ebastine; Belongs to the cytochrome P450 family 9606.ENSP00000449002 OR11H12 326 Olfactory receptor 11H12; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000449026 ENSG00000229117 25 Ribosomal protein L41; Interacts with the beta subunit of protein kinase CKII and stimulates phosphorylation of DNA topoisomerase II alpha by CKII; L ribosomal proteins 9606.ENSP00000449079 RDH12 316 Retinol dehydrogenase 12; Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments 9606.ENSP00000449089 DNM1L 749 Dynamin-1-like protein; Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into membrane- associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally regulated apoptos [...] 9606.ENSP00000449137 C19orf67 358 UPF0575 protein C19orf67; Chromosome 19 open reading frame 67; Belongs to the UPF0575 family 9606.ENSP00000449223 ENSG00000258130 439 Protein LOC101929849 9606.ENSP00000449241 AGAP2 1192 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2; GTPase-activating protein (GAP) for ARF1 and ARF5, which also shows strong GTPase activity. Isoform 1 participates in the prevention of neuronal apoptosis by enhancing PI3 kinase activity. It aids the coupling of metabotropic glutamate receptor 1 (GRM1) to cytoplasmic PI3 kinase by interacting with Homer scaffolding proteins, and also seems to mediate anti-apoptotic effects of NGF by activating nuclear PI3 kinase. Isoform 2 does not stimulate PI3 kinase but may protect cells from apoptosis by stimulating Akt. It also r [...] 9606.ENSP00000449253 KCNC2 638 Potassium voltage-gated channel subfamily C member 2; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric channels through which potassium ions pass in accordance with their electrochemic [...] 9606.ENSP00000449270 COPZ1 185 Coatomer subunit zeta-1; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also in [...] 9606.ENSP00000449328 RPLP0 317 60S acidic ribosomal protein P0; Ribosomal protein P0 is the functional equivalent of E.coli protein L10 9606.ENSP00000449334 ENSG00000258150 439 Uncharacterized protein 9606.ENSP00000449381 MAPKAPK5 473 MAP kinase-activated protein kinase 5; Tumor suppressor serine/threonine-protein kinase involved in mTORC1 signaling and post-transcriptional regulation. Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1, p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras- induced senescence and phosphorylating p53/TP53. Involved in post- transcriptional regulation of MYC by mediating phosphorylation of FOXO3: phosphorylation of FOXO3 leads to promote nuclear localization of FOXO3, enabling expression of miR-34b and miR-34c, 2 post-transcriptional regulators of MYC that bind to the [...] 9606.ENSP00000449404 KRT8 511 Keratin, type II cytoskeletal 8; Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle; Keratins, type II 9606.ENSP00000449428 TWF1 357 Twinfilin-1; Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G-actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles (By similarity) 9606.ENSP00000449500 RNASEK 137 Ribonuclease kappa; Endoribonuclease which preferentially cleaves ApU and ApG phosphodiester bonds. Hydrolyzes UpU bonds at a lower rate; Belongs to the RNase K family 9606.ENSP00000449535 ACSS3 686 Acyl-CoA synthetase short-chain family member 3, mitochondrial; Activates acetate so that it can be used for lipid synthesis or for energy generation; Belongs to the ATP-dependent AMP-binding enzyme family 9606.ENSP00000449544 ENSG00000257921 124 Uncharacterized protein 9606.ENSP00000449629 ANKS1B 1248 Ankyrin repeat and sterile alpha motif domain-containing protein 1B; Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells; Ankyrin repeat domain containing 9606.ENSP00000449751 FKBP11 201 Peptidyl-prolyl cis-trans isomerase FKBP11; PPIases accelerate the folding of proteins during protein synthesis; FKBP prolyl isomerases 9606.ENSP00000449756 SLC38A1 503 Sodium-coupled neutral amino acid transporter 1; Functions as a sodium-dependent amino acid transporter. Mediates the saturable, pH-sensitive and electrogenic cotransport of glutamine and sodium ions with a stoichiometry of 1:1. May also transport small zwitterionic and aliphatic amino acids with a lower affinity. May supply glutamatergic and GABAergic neurons with glutamine which is required for the synthesis of the neurotransmitters glutamate and GABA; Solute carriers 9606.ENSP00000449770 ENSG00000257411 160 Uncharacterized protein 9606.ENSP00000449784 HECTD4 4284 Probable E3 ubiquitin-protein ligase HECTD4; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 9606.ENSP00000449795 TRIAP1 76 TP53-regulated inhibitor of apoptosis 1; Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Likewise, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes (in vitro) and probably functions as a PA transporter acros [...] 9606.ENSP00000449884 MRPL42 142 Mitochondrial ribosomal protein L42; Belongs to the mitochondrion-specific ribosomal protein mL42 family 9606.ENSP00000449960 CALCOCO1 691 Calcium-binding and coiled-coil domain-containing protein 1; Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1- mediated transcriptional acti [...] 9606.ENSP00000449999 CLEC5A 188 C-type lectin domain family 5 member A; Functions as a positive regulator of osteoclastogenesis. Cell surface receptor that signals via TYROBP. Regulates inflammatory responses. Acts as a key regulator of synovial injury and bone erosion during autoimmune joint inflammation (By similarity). Critical macrophage receptor for dengue virus serotypes 1-4; C-type lectin domain containing 9606.ENSP00000450040 ASPG 573 60 kDa lysophospholipase; Exhibits lysophospholipase, transacylase, PAF acetylhydrolase and asparaginase activities; In the N-terminal section; belongs to the asparaginase 1 family 9606.ENSP00000450085 ENSG00000161939 233 RNASEK-C17orf49 readthrough 9606.ENSP00000450114 C14orf79 325 Uncharacterized protein CLBA1; Chromosome 14 open reading frame 79 9606.ENSP00000450244 RASAL1 806 RasGAP-activating-like protein 1; Probable inhibitory regulator of the Ras-cyclic AMP pathway. Plays a role in dendrite formation by melanocytes; C2 and RasGAP domain containing 9606.ENSP00000450281 ENSG00000111780 168 Uncharacterized protein; Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial 9606.ENSP00000450310 GPR84 396 G-protein coupled receptor 84; Receptor for medium-chain free fatty acid (FFA) with carbon chain lengths of C9 to C14. Capric acid (C10:0), undecanoic acid (C11:0) and lauric acid (C12:0) are the most potent agonists. Not activated by short-chain and long-chain saturated and unsaturated FFAs. Activation by medium-chain free fatty acid is coupled to a pertussis toxin sensitive G(i/o) protein pathway. May have important roles in processes from fatty acid metabolism to regulation of the immune system 9606.ENSP00000450337 PPFIA2 1257 Liprin-alpha-2; Alters PTPRF cellular localization and induces PTPRF clustering. May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates; Belongs to the liprin family. Liprin-alpha subfamily 9606.ENSP00000450353 ENSG00000257767 259 Uncharacterized protein 9606.ENSP00000450385 MYL6B 208 Myosin light chain 6B; Regulatory light chain of myosin. Does not bind calcium; EF-hand domain containing 9606.ENSP00000450436 ALDH6A1 535 Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial; Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA; Aldehyde dehydrogenases 9606.ENSP00000450444 HEATR4 1026 HEAT repeat-containing protein 4; Armadillo-like helical domain containing 9606.ENSP00000450456 RAX2 184 Retina and anterior neural fold homeobox protein 2; May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter; PRD class homeoboxes and pseudogenes 9606.ENSP00000450461 CEP95 821 Centrosomal protein 95 9606.ENSP00000450482 BDKRB2 391 B2 bradykinin receptor; Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system; Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB2 sub-subfamily 9606.ENSP00000450524 MAP1LC3B2 125 Microtubule-associated proteins 1A/1B light chain 3 beta 2; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (By similarity); Belongs to the ATG8 family 9606.ENSP00000450527 HOPX 112 Homeodomain-only protein; Atypical homeodomain protein which does not bind DNA and is required to modulate cardiac growth and development. Acts via its interaction with SRF, thereby modulating the expression of SRF-dependent cardiac-specific genes and cardiac development. Prevents SRF-dependent transcription either by inhibiting SRF binding to DNA or by recruiting histone deacetylase (HDAC) proteins that prevent transcription by SRF. Overexpression causes cardiac hypertrophy (By similarity). May act as a tumor suppressor. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins [...] 9606.ENSP00000450540 AACT 423 Alpha-1-antichymotrypsin; Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2; Serpin peptidase inhibitors 9606.ENSP00000450565 IL11RA 422 Interleukin-11 receptor subunit alpha; Receptor for interleukin-11. The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells. Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number; Belongs to the type I cytokine receptor family. Type 3 subfamily 9606.ENSP00000450580 RNASE12 147 Probable inactive ribonuclease-like protein 12; Does not exhibit any ribonuclease activity 9606.ENSP00000450607 TIMELESS 1208 Protein timeless homolog; Plays an important role in the control of DNA replication, maintenance of replication fork stability, maintenance of genome stability throughout normal DNA replication and in the regulation of the circadian clock. Involved in the determination of period length and in the DNA damage-dependent phase advancing of the circadian clock. Negatively regulates CLOCK|NPAS2-ARTNL/BMAL1|ARTNL2/BMAL2-induced transactivation of PER1 possibly via translocation of PER1 into the nucleus. Forms a complex with TIPIN and this complex regulates DNA replication processes under both [...] 9606.ENSP00000450614 ENSG00000258466 91 annotation not available 9606.ENSP00000450730 ENSG00000258973 256 Uncharacterized protein 9606.ENSP00000450731 VTI1B 232 Vesicle transport through interaction with t-SNAREs homolog 1B; V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence; Belongs to the VTI1 family 9606.ENSP00000450742 ZFYVE1 777 Zinc finger FYVE-type containing 1 9606.ENSP00000450749 JKAMP 325 JNK1/MAPK8-associated membrane protein; May be a regulator of the duration of MAPK8 activity in response to various stress stimuli. Facilitates degradation of misfolded endoplasmic reticulum (ER) luminal proteins through the recruitment of components of the proteasome and endoplasmic reticulum-associated degradation (ERAD) system (By similarity) 9606.ENSP00000450832 SIPA1L1 1804 Signal-induced proliferation-associated 1-like protein 1; Stimulates the GTPase activity of RAP2A. Promotes reorganization of the actin cytoskeleton and recruits DLG4 to F- actin. Contributes to the regulation of dendritic spine morphogenesis (By similarity); PDZ domain containing 9606.ENSP00000450838 SERPINA4 427 Kallistatin; Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein; Belongs to the serpin family 9606.ENSP00000450842 TMEM30B 351 Cell cycle control protein 50B; Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to th [...] 9606.ENSP00000450853 POTEM 508 POTE ankyrin domain family member M 9606.ENSP00000450856 ENSG00000259132 193 annotation not available 9606.ENSP00000450857 STON2 920 Stonin-2; Adapter protein involved in endocytic machinery. Involved in the synaptic vesicle recycling. May facilitate clathrin-coated vesicle uncoating; Belongs to the Stoned B family 9606.ENSP00000450864 SMEK1 820 Serine/threonine-protein phosphatase 4 regulatory subunit 3A; Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA DSB repair; Belongs to the SMEK family 9606.ENSP00000450895 ENSG00000259030 949 FPGT-TNNI3K readthrough; Ankyrin repeat domain containing 9606.ENSP00000450909 SLIRP 109 SRA stem-loop-interacting RNA-binding protein, mitochondrial; RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation 9606.ENSP00000450958 TMEM179 233 Transmembrane protein 179; Belongs to the TMEM179 family 9606.ENSP00000450962 EMX2 252 Homeobox protein EMX2; Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system 9606.ENSP00000450980 DIO2 309 Iodothyronine deiodinase; Responsible for the deiodination of T4 (3,5,3',5'- tetraiodothyronine); Selenoproteins 9606.ENSP00000450984 ENSG00000258691 75 Uncharacterized protein 9606.ENSP00000451000 ZBTB1 713 Zinc finger and BTB domain-containing protein 1; Acts as a transcriptional repressor. Represses cAMP-responsive element (CRE)-mediated transcriptional activation. In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis. Plays a key role in the transcriptional regulation of T lymphocyte development (By similarity); BTB domain containing 9606.ENSP00000451030 RGS6 490 Regulator of G-protein signaling 6; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity 9606.ENSP00000451040 PGF 170 Placenta growth factor; Growth factor active in angiogenesis and endothelial cell growth, stimulating their proliferation and migration. It binds to the receptor FLT1/VEGFR-1. Isoform PlGF-2 binds NRP1/neuropilin-1 and NRP2/neuropilin-2 in a heparin-dependent manner. Also promotes cell tumor growth 9606.ENSP00000451080 ERH 104 Enhancer of rudimentary homolog; May have a role in the cell cycle; Belongs to the E(R) family 9606.ENSP00000451087 DUX4L6 424 Double homeobox 4 like 6; PRD class homeoboxes and pseudogenes 9606.ENSP00000451107 DUX4L5 424 Double homeobox 4 like 5; PRD class homeoboxes and pseudogenes 9606.ENSP00000451112 NPC2 151 Epididymal secretory protein E1; Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding po [...] 9606.ENSP00000451145 ENSG00000258724 440 Uncharacterized protein; Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5'- AACAAT-3' 9606.ENSP00000451162 CEP128 1094 Centrosomal protein 128 9606.ENSP00000451188 GSKIP 139 GSK3B-interacting protein; A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets. The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively. Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B. During neurite outgrowth promotes neuron [...] 9606.ENSP00000451207 DUX4L1 424 Double homeobox 4 like 1; PRD class homeoboxes and pseudogenes 9606.ENSP00000451211 NEDD1 667 Protein NEDD1; Required for mitosis progression. Promotes the nucleation of microtubules from the spindle; WD repeat domain containing 9606.ENSP00000451223 PROX2 592 Prospero homeobox protein 2; Transcription regulator. Does not seem to be essential for embryonic development and postnatal survival (By similarity); Belongs to the Prospero homeodomain family 9606.ENSP00000451235 H326 751 DDB1- and CUL4-associated factor 8; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex; DDB1 and CUL4 associated factors 9606.ENSP00000451261 UBE2J1 318 Ubiquitin-conjugating enzyme E2 J1; Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD); Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000451263 MAP3K9 1118 Mitogen-activated protein kinase kinase kinase 9; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade through the phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7 which in turn activate the JNKs. The MKK/JNK signaling pathway regulates stress response via activator protein-1 (JUN) and GATA4 transcription factors. Plays also a role in mitochondrial [...] 9606.ENSP00000451270 DUX4L4 422 Double homeobox protein 4-like protein 4; May be involved in transcriptional regulation; PRD class homeoboxes and pseudogenes 9606.ENSP00000451291 HNRNPC 306 Heterogeneous nuclear ribonucleoproteins C1/C2; Binds pre-mRNA and nucleates the assembly of 40S hnRNP particles. Interacts with poly-U tracts in the 3'-UTR or 5'-UTR of mRNA and modulates the stability and the level of translation of bound mRNA molecules. Single HNRNPC tetramers bind 230-240 nucleotides. Trimers of HNRNPC tetramers bind 700 nucleotides. May play a role in the early steps of spliceosome assembly and pre-mRNA splicing. N6- methyladenosine (m6A) has been shown to alter the local structure in mRNAs and long non-coding RNAs (lncRNAs) via a mechanism named 'm(6)A-switch', f [...] 9606.ENSP00000451300 NUMB 651 Protein numb homolog; Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the onset of neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity. May also mediate local repair of brain ventricular wall damage 9606.ENSP00000451318 C14orf6 199 Ribonuclease, RNase A family, 11 (non-active); Ribonuclease A family member 11 9606.ENSP00000451369 ENSG00000259066 166 Uncharacterized protein 9606.ENSP00000451406 HSD17B6 317 17-beta-hydroxysteroid dehydrogenase type 6; NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3- alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to [...] 9606.ENSP00000451411 DUX4L7 424 Double homeobox 4 like 7; PRD class homeoboxes and pseudogenes 9606.ENSP00000451545 DUX4L2 424 Double homeobox 4 like 2; May be involved in transcriptional regulation; PRD class homeoboxes and pseudogenes 9606.ENSP00000451560 ENSG00000258947 797 Uncharacterized protein; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper axon guidance and mantainance; Belongs to the tubulin family 9606.ENSP00000451575 ASB2 635 Ankyrin repeat and SOCS box protein 2; Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the ankyrin SOCS box (ASB) family 9606.ENSP00000451594 MOAP1 351 Modulator of apoptosis 1; Required for death receptor-dependent apoptosis. When associated with RASSF1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation; Belongs to the PNMA family 9606.ENSP00000451605 MC1R 317 Melanocyte-stimulating hormone receptor; Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000451648 NRXN3 1061 Neurexin-3; Neuronal cell surface protein that may be involved in cell recognition and cell adhesion. May mediate intracellular signaling; Neurexins 9606.ENSP00000451712 NDRG2 371 Protein NDRG2; Contributes to the regulation of the Wnt signaling pathway. Down-regulates CTNNB1-mediated transcriptional activation of target genes, such as CCND1, and may thereby act as tumor suppressor. May be involved in dendritic cell and neuron differentiation 9606.ENSP00000451752 SPTB 2328 Spectrin beta chain, erythrocytic; Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane; Pleckstrin homology domain containing 9606.ENSP00000451768 C6orf174 947 Protein SOGA3; SOGA family member 3 9606.ENSP00000451792 ENSG00000258728 280 Uncharacterized protein 9606.ENSP00000451812 LIN52 116 Protein lin-52 homolog; Lin-52 DREAM MuvB core complex component 9606.ENSP00000451818 SRP54 504 Signal recognition particle 54 kDa protein; Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein) 9606.ENSP00000451828 AKT1 480 RAC-alpha serine/threonine-protein kinase; AKT1 is one of 3 closely related serine/threonine- protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT is responsible of the regulation of glucose uptake by mediating insulin-induced translocation of th [...] 9606.ENSP00000451851 IFI27L1 104 Interferon alpha inducible protein 27 like 1 9606.ENSP00000451859 DUX4L3 424 Double homeobox protein 4-like protein 2; May be involved in transcriptional regulation; PRD class homeoboxes and pseudogenes 9606.ENSP00000451866 SMIM13 91 Small integral membrane protein 13 9606.ENSP00000451945 NKX1-2 310 NK1 transcription factor-related protein 2; May function in cell specification, particularly in the CNS; NKL subclass homeoboxes and pseudogenes 9606.ENSP00000451950 OR13A1 328 Olfactory receptor 13A1; Odorant receptor; Olfactory receptors, family 13 9606.ENSP00000451962 PRAF2 178 PRA1 family protein 2; May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptic role in cerulenin-induced neuroblastoma apoptosis; YIP family 9606.ENSP00000451974 XRCC3 346 DNA repair protein XRCC3; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2- dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the [...] 9606.ENSP00000451998 EML5 1977 Echinoderm microtubule-associated protein-like 5; May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic; WD repeat domain containing 9606.ENSP00000452007 ISCA2 154 Iron-sulfur cluster assembly 2 homolog, mitochondrial; Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly 9606.ENSP00000452037 DNAL1 190 Dynein light chain 1, axonemal; Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-rig [...] 9606.ENSP00000452120 ITGA7 1141 Integrin alpha-7; Integrin alpha-7/beta-1 is the primary laminin receptor on skeletal myoblasts and adult myofibers. During myogenic differentiation, it may induce changes in the shape and mobility of myoblasts, and facilitate their localization at laminin-rich sites of secondary fiber formation. It is involved in the maintenance of the myofibers cytoarchitecture as well as for their anchorage, viability and functional integrity. Isoform Alpha-7X2B and isoform Alpha-7X1B promote myoblast migration on laminin 1 and laminin 2/4, but isoform Alpha-7X1B is less active on laminin 1 (In vitr [...] 9606.ENSP00000452123 SRSF5 272 Serine/arginine-rich splicing factor 5; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites; RNA binding motif containing 9606.ENSP00000452126 RGMA 458 Repulsive guidance molecule A; Member of the repulsive guidance molecule (RGM) family that performs several functions in the developing and adult nervous system. Regulates cephalic neural tube closure, inhibits neurite outgrowth and cortical neuron branching, and the formation of mature synapses. Binding to its receptor NEO1/neogenin induces activation of RHOA-ROCK1/Rho-kinase signaling pathway through UNC5B-ARHGEF12/LARG-PTK2/FAK1 cascade, leading to collapse of the neuronal growth cone and neurite outgrowth inhibition. Furthermore, RGMA binding to NEO1/neogenin leads to HRAS inactiva [...] 9606.ENSP00000452181 VIPAS39 493 Spermatogenesis-defective protein 39 homolog; Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A- dependent recycling pathway and in the maintenance of the apical- basolateral polarity. May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be indepenedent of VPS33B. May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or ind [...] 9606.ENSP00000452245 ENSG00000258818 147 Ribonuclease 4; This RNase has marked specificity towards the 3' side of uridine nucleotides; Ribonuclease A family 9606.ENSP00000452252 ENSG00000258941 1339 Endoplasmic reticulum export factor CTAGE5; cTAGE family member 5 9606.ENSP00000452277 OR4C13 309 Olfactory receptor 4C13; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000452280 PTGR2 351 Prostaglandin reductase 2; Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto- PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation (By similarity) 9606.ENSP00000452347 ENSG00000273171 148 Uncharacterized protein 9606.ENSP00000452398 DUXA 204 Double homeobox protein A; Putative transcription factor; PRD class homeoboxes and pseudogenes 9606.ENSP00000452401 ENSG00000258989 145 annotation not available 9606.ENSP00000452414 PTPN21 1174 Protein tyrosine phosphatase, non-receptor type 21; FERM domain containing 9606.ENSP00000452454 GTF2A1 376 Transcription initiation factor IIA subunit 1; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity; Belongs to the TFIIA subunit 1 family 9606.ENSP00000452479 ENSG00000258643 333 BCL2L2-PABPN1 readthrough; Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX 9606.ENSP00000452521 NAA30 362 N-alpha-acetyltransferase 30; Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate; Belongs to the acetyltransferase family. MAK3 subfamily 9606.ENSP00000452549 ENSG00000258674 273 Uncharacterized protein; YjeF N-terminal domain-containing protein 3 9606.ENSP00000452552 ZFP37 645 Zinc finger protein 37 homolog; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000452634 TNFAIP2 654 Tumor necrosis factor alpha-induced protein 2; May play a role as a mediator of inflammation and angiogenesis 9606.ENSP00000452697 SEC11A 185 Signal peptidase complex catalytic subunit SEC11A; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum 9606.ENSP00000452746 PSTPIP1 416 Proline-serine-threonine phosphatase-interacting protein 1; Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow PTPN12 to dephosphorylate WAS. Has the potential to physically couple CD2 and CD2AP to WAS. Acts downstream of CD2 and CD2AP to recruit WAS to the T-cell:APC contact site so as to promote the actin polymerization required for synapse induction during T-cell activation (By similarity). [...] 9606.ENSP00000452762 ETFA 333 Electron transfer flavoprotein subunit alpha, mitochondrial; Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism 9606.ENSP00000452773 C15orf57 194 Coiled-coil domain-containing protein 32; Chromosome 15 open reading frame 57 9606.ENSP00000452780 B2M 119 Beta-2-microglobulin; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation; Belongs to the beta-2-microglobulin family 9606.ENSP00000452786 ITGB3 788 Integrin beta-3; Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha- IIb/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following act [...] 9606.ENSP00000452793 GDPGP1 385 GDP-D-glucose phosphorylase 1; Specific and highly efficient GDP-D-glucose phosphorylase regulating the levels of GDP-D-glucose in cells 9606.ENSP00000452796 PEAK1 1746 Pseudopodium-enriched atypical kinase 1; Tyrosine kinase that may play a role in cell spreading and migration on fibronectin. May directly or indirectly affect phosphorylation levels of cytoskeleton-associated proteins MAPK1/ERK and PXN 9606.ENSP00000452871 TLE3 772 Transducin-like enhancer protein 3; Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity); WD repeat domain containing 9606.ENSP00000452877 ZNF592 1267 Zinc finger protein 592; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000452885 FAM63B 621 Ubiquitin carboxyl-terminal hydrolase MINDY-2; Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins. Binds to polyubiquitin chains of different linkage types, including 'Lys-6', 'Lys-11', 'Lys-29', 'Lys-33', 'Lys-48' and 'Lys-63'. May play a regulatory role at the level of protein turnover 9606.ENSP00000452909 RPL28 169 60S ribosomal protein L28; Component of the large ribosomal subunit; Belongs to the eukaryotic ribosomal protein eL28 family 9606.ENSP00000452948 MAN2A2 1150 Alpha-mannosidase 2x; Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway; Mannosidases alpha class 2 9606.ENSP00000453012 UBE2Q2L 131 Putative ubiquitin-conjugating enzyme E2Q2-like protein; Ubiquitin conjugating enzyme E2 Q2 like; Belongs to the ubiquitin-conjugating enzyme family 9606.ENSP00000453019 C9orf69 139 Transmembrane protein 250; May play a role in cell proliferation by promoting progression into S phase 9606.ENSP00000453076 GPR176 515 G-protein coupled receptor 176; Orphan receptor involved in normal circadian rhythm behavior. Acts through the G-protein subclass G(z)-alpha and has an agonist-independent basal activity to repress cAMP production 9606.ENSP00000453089 ENSG00000259371 283 annotation not available 9606.ENSP00000453129 GALK2 458 N-acetylgalactosamine kinase; Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates; Belongs to the GHMP kinase family. GalK subfamily 9606.ENSP00000453153 BLID 108 BH3-like motif-containing cell death inducer; Functions as a proapoptotic molecule through the caspase-dependent mitochondrial pathway of cell death 9606.ENSP00000453170 RGPD1 1748 RANBP2-like and GRIP domain-containing protein 1; Tetratricopeptide repeat domain containing 9606.ENSP00000453177 TRIM69 500 E3 ubiquitin-protein ligase TRIM69; May have E3 ubiquitin-protein ligase activity. May play a role in apoptosis; Ring finger proteins 9606.ENSP00000453273 LRRC49 691 Leucine-rich repeat-containing protein 49; Leucine rich repeat containing 49 9606.ENSP00000453281 RFX7 1363 DNA-binding protein RFX7; Regulatory factor X family; Belongs to the RFX family 9606.ENSP00000453293 APBA2 749 Amyloid-beta A4 precursor protein-binding family A member 2; Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta; PDZ domain containing 9606.ENSP00000453302 ADAM8 824 Disintegrin and metalloproteinase domain-containing protein 8; Possible involvement in extravasation of leukocytes; ADAM metallopeptidase domain containing 9606.ENSP00000453307 MEIS3 421 Homeobox protein Meis3; TALE class homeoboxes and pseudogenes 9606.ENSP00000453364 HCG27 189 HLA complex group 27 9606.ENSP00000453399 TMEM185B 350 Transmembrane protein 185B 9606.ENSP00000453403 NUSAP1 441 Nucleolar and spindle-associated protein 1; Microtubule-associated protein with the capacity to bundle and stabilize microtubules (By similarity). May associate with chromosomes and promote the organization of mitotic spindle microtubules around them; Belongs to the NUSAP family 9606.ENSP00000453502 ST20 79 Suppressor of tumorigenicity 20 protein; May act as a tumor suppressor. Promotes apoptosis of cancer cells 9606.ENSP00000453508 TLN2 2542 Talin-2; As a major component of focal adhesion plaques that links integrin to the actin cytoskeleton, may play an important role in cell adhesion. Recruits PIP5K1C to focal adhesion plaques and strongly activates its kinase activity (By similarity); FERM domain containing 9606.ENSP00000453554 FAM169B 192 Protein FAM169B; Family with sequence similarity 169 member B; Belongs to the FAM169 family 9606.ENSP00000453665 ENSG00000259752 124 annotation not available 9606.ENSP00000453704 TGIF2LX 241 Homeobox protein TGIF2LX; May have a transcription role in testis; TALE class homeoboxes and pseudogenes 9606.ENSP00000453793 MEIS2 477 Homeobox protein Meis2; Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in [...] 9606.ENSP00000453854 SECISBP2L 1101 Selenocysteine insertion sequence-binding protein 2-like; Binds SECIS (Sec insertion sequence) elements present on selenocysteine (Sec) protein mRNAs, but does not promote Sec incorporation into selenoproteins in vitro 9606.ENSP00000453858 BUB1B-PAK6 681 Serine/threonine-protein kinase PAK 6; Serine/threonine protein kinase that plays a role in the regulation of gene transcription. The kinase activity is induced by various effectors including AR or MAP2K6/MAPKK6. Phosphorylates the DNA-binding domain of androgen receptor/AR and thereby inhibits AR-mediated transcription. Inhibits also ESR1-mediated transcription. May play a role in cytoskeleton regulation by interacting with IQGAP1. May protect cells from apoptosis through phosphorylation of BAD; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily 9606.ENSP00000453872 RNF111 995 E3 ubiquitin-protein ligase Arkadia; E3 ubiquitin-protein ligase. Required for mesoderm patterning during embryonic development (By similarity). Acts as an enhancer of the transcriptional responses of the SMAD2/SMAD3 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD7, inducing their proteasomal degradation and thereby enhancing the transcriptional activity of TGF-beta and BMP. In addition to enhance transcription of SMAD2/SMAD3 effectors, also regulates their turnover by mediating their ubiquitination and [...] 9606.ENSP00000453940 CCDC175 793 Coiled-coil domain containing 175 9606.ENSP00000453962 TMEM253 217 Transmembrane protein 253 9606.ENSP00000453969 C15orf52 534 Uncharacterized protein C15orf52; Chromosome 15 open reading frame 52 9606.ENSP00000454012 UBAP1L 381 Ubiquitin-associated protein 1-like; Ubiquitin associated protein 1 like 9606.ENSP00000454014 SHISA9 424 Protein shisa-9; Regulator of short-term neuronal synaptic plasticity in the dentate gyrus. Associates with AMPA receptors (ionotropic glutamate receptors) in synaptic spines and promotes AMPA receptor desensitization at excitatory synapses (By similarity); Belongs to the shisa family. SHISA9 subfamily 9606.ENSP00000454021 ENSG00000259399 155 TGIF2-C20orf24 readthrough 9606.ENSP00000454038 GMPR2 427 GMP reductase 2; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. Plays a role in modulating cellular differentiation 9606.ENSP00000454062 NRL 237 Neural retina-specific leucine zipper protein; Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B. Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3. Binds in a sequence-specific manner to the rhodopsin promoter; Basic leucine zipper proteins 9606.ENSP00000454071 LDLR 860 Low-density lipoprotein receptor; Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits; Belongs to the LDLR family 9606.ENSP00000454153 C5orf63 138 Glutaredoxin-like protein C5orf63; Chromosome 5 open reading frame 63 9606.ENSP00000454157 ZEB2 1214 Zinc finger E-box-binding homeobox 2; Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E- cadherin; ZF class homeoboxes and pseudogenes 9606.ENSP00000454207 TRAF3 568 TNF receptor-associated factor 3; Regulates pathways leading to the activation of NF- kappa-B and MAP kinases, and plays a central role in the regulation of B-cell survival. Part of signaling pathways leading to the production of cytokines and interferon. Required for normal antibody isotype switching from IgM to IgG. Plays a role T-cell dependent immune responses. Plays a role in the regulation of antiviral responses. Is an essential constituent of several E3 ubiquitin-protein ligase complexes. May have E3 ubiquitin-protein ligase activity and promote 'Lys-63'-linked ubiquitination of [...] 9606.ENSP00000454229 CLN3 438 Battenin; Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes 9606.ENSP00000454264 NUB1 639 NEDD8 ultimate buster 1; Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2 9606.ENSP00000454268 KIAA1024L 190 UPF0258 protein KIAA1024-like; KIAA1024 like 9606.ENSP00000454303 AP5B1 878 AP-5 complex subunit beta-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport; Armadillo-like helical domain containing 9606.ENSP00000454322 GOLGA8F 648 Golgin A8 family member F; Belongs to the GOLGA8 family 9606.ENSP00000454340 ENSG00000261130 118 Uncharacterized protein; Belongs to the peroxisomal membrane protein PXMP2/4 family 9606.ENSP00000454370 SMKR1 65 Small lysine rich protein 1 9606.ENSP00000454380 FAM173A 235 Protein FAM173A; Seven-beta-strand methyltransferase motif containing 9606.ENSP00000454386 ENSG00000131152 237 annotation not available 9606.ENSP00000454404 TMEM170A 144 Transmembrane protein 170A; Acts as a regulator of endoplasmic reticulum (ER) and nuclear envelope (NE) morphogenesis. Affects the ratio between tubular ER and ER sheets by promoting sheet formation at the expense of tubules. Influences NE expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins; Belongs to the TMEM170 family 9606.ENSP00000454407 GOLGA6L2 909 Golgin subfamily A member 6-like protein 2; Golgin A6 family-like 2; Belongs to the GOLGA6 family 9606.ENSP00000454437 ENSG00000260861 177 Uncharacterized protein 9606.ENSP00000454468 TMEM249 235 Transmembrane protein 249 9606.ENSP00000454500 ENSG00000260371 156 Uncharacterized protein 9606.ENSP00000454545 RBM15B 890 Putative RNA-binding protein 15B; May function in the regulation of alternative or illicit splicing; Belongs to the RRM Spen family 9606.ENSP00000454561 C8orf88 117 Uncharacterized protein C8orf88; Chromosome 8 open reading frame 88 9606.ENSP00000454562 DNASE1L2 299 Deoxyribonuclease-1-like 2; Divalent cation-dependent acid DNA endonuclease involved in the breakdown of the nucleus during corneocyte formation of epidermal keratinocytes. May play an immune role by eliminating harmful DNA released into the extracellular environment by damaged epidermal cells 9606.ENSP00000454623 ITGAX 1169 Integrin alpha-X; Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis 9606.ENSP00000454646 SLC38A7 462 Putative sodium-coupled neutral amino acid transporter 7; Mediates sodium-dependent transport of amino acids, preferentially L-glutamine; Belongs to the amino acid/polyamine transporter 2 family 9606.ENSP00000454664 C16orf97 126 Uncharacterized protein C16orf97; Chromosome 16 open reading frame 97 9606.ENSP00000454699 ENSG00000260537 261 ATP-dependent RNA helicase DDX19B 9606.ENSP00000454746 ENSG00000260342 237 Uncharacterized protein 9606.ENSP00000454748 LRRC9 1453 Leucine-rich repeat-containing protein 9; Leucine rich repeat containing 9 9606.ENSP00000454770 ANKRD66 251 Ankyrin repeat domain-containing protein 66; Ankyrin repeat domain containing 9606.ENSP00000454783 CORO2B 480 Coronin-2B; May play a role in the reorganization of neuronal actin structure; Belongs to the WD repeat coronin family 9606.ENSP00000454786 ENSG00000260836 293 annotation not available 9606.ENSP00000454804 ASIP 132 Agouti-signaling protein; Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes 9606.ENSP00000454836 TBL3 808 Transducin beta-like protein 3; WD repeat domain containing; UTPb subcomplex 9606.ENSP00000454852 SNUPN 360 Snurportin-1; Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs; Belongs to the snurportin family 9606.ENSP00000454903 C3orf84 204 Uncharacterized protein C3orf84; Chromosome 3 open reading frame 84 9606.ENSP00000454913 C6orf229 230 Uncharacterized protein C6orf229; Chromosome 6 open reading frame 229 9606.ENSP00000454919 RNF112 631 Ring finger protein 112 9606.ENSP00000454926 C16orf52 167 Uncharacterized protein C16orf52; Chromosome 16 open reading frame 52 9606.ENSP00000454945 TMEM204 226 Transmembrane protein 204; Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens 9606.ENSP00000454973 SCAPER 1400 S phase cyclin A-associated protein in the endoplasmic reticulum; CCNA2/CDK2 regulatory protein that transiently maintains CCNA2 in the cytoplasm; Zinc fingers C2H2-type 9606.ENSP00000455026 RPUSD1 312 RNA pseudouridylate synthase domain containing 1; Belongs to the pseudouridine synthase RluA family 9606.ENSP00000455041 TMC7 758 Transmembrane channel-like protein 7; Probable ion channel; Transmembrane channel likes 9606.ENSP00000455047 ENSG00000260170 289 Uncharacterized protein 9606.ENSP00000455064 SLC7A6 515 Y+L amino acid transporter 2; Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in mono [...] 9606.ENSP00000455068 METRN 293 Meteorin; Involved in both glial cell differentiation and axonal network formation during neurogenesis. Promotes astrocyte differentiation and transforms cerebellar astrocytes into radial glia. Also induces axonal extension in small and intermediate neurons of sensory ganglia by activating nearby satellite glia (By similarity); Belongs to the meteorin family 9606.ENSP00000455079 C16orf95 239 Uncharacterized protein C16orf95; Chromosome 16 open reading frame 95 9606.ENSP00000455099 TMEM88B 163 Transmembrane protein 88B 9606.ENSP00000455106 BOP1 746 Ribosome biogenesis protein BOP1; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome; Belongs to the WD repeat BOP1/ERB1 family 9606.ENSP00000455132 ENSG00000205457 124 TP53 target 3C; May play a significant role in p53/TP53-mediating signaling pathway 9606.ENSP00000455169 NETO2 525 Neuropilin and tolloid-like protein 2; Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3. Increases kainate-receptor channel activity, slowing the decay kinetics of the receptors, without affecting their expression at the cell surface, and increasing the open probability of the receptor channels. Modulates the agonist sensitivity of kainate receptors. Slows the decay of kainate receptor-mediated excitatory postsynaptic currents (EPSCs), thus directly influencing synaptic transmission (By similarity) 9606.ENSP00000455215 GPR56 693 Adhesion G-protein coupled receptor G1; Receptor involved in cell adhesion and probably in cell- cell interactions. Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination (By similarity). Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly GNA12. Plays a role in the maintenance of hematopoi [...] 9606.ENSP00000455229 DUS2 493 tRNA-dihydrouridine(20) synthase [NAD(P)+]-like; Dihydrouridine synthase. Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. Negatively regulates the activation of EIF2AK2/PKR 9606.ENSP00000455265 TAF1C 869 TATA box-binding protein-associated factor RNA polymerase I subunit C; Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via [...] 9606.ENSP00000455298 GOLGA8S 625 Golgin A8 family member S 9606.ENSP00000455385 MKRN2OS 223 MKRN2 opposite strand 9606.ENSP00000455397 C15orf41 281 Uncharacterized protein C15orf41; Chromosome 15 open reading frame 41 9606.ENSP00000455426 ZNF423 1284 Zinc finger protein 423; Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmenta [...] 9606.ENSP00000455434 RD3L 198 Protein RD3-like; Retinal degeneration 3-like 9606.ENSP00000455442 NUPR1L 97 Nuclear protein 2; Acts as a transcriptional repressor by inhibiting gene expression at the NUPR1 promoter in a p53/TP53-dependent manner in cancer cells. Involved in the G1 cell cycle arrest, and in a decrease in cell viability and cell proliferation. Plays a role as a negative regulator of the protumoral factor NUPR1 9606.ENSP00000455444 TCF24 167 Transcription factor 24; Putative transcription factor; Basic helix-loop-helix proteins 9606.ENSP00000455459 HYKK 373 Hydroxylysine kinase; Catalyzes the GTP-dependent phosphorylation of 5- hydroxy-L-lysine 9606.ENSP00000455469 GJE1 205 Putative gap junction epsilon-1 protein; Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions; Belongs to the connexin family. Beta-type (group I) subfamily 9606.ENSP00000455507 OBSCN 8923 Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF; Fibronectin type III domain containing 9606.ENSP00000455510 OBBP2 551 Sialic acid binding Ig-like lectin 5; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds equally to alpha-2,3-linked and alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface; CD molecules 9606.ENSP00000455547 ENSG00000260272 376 Uncharacterized protein 9606.ENSP00000455561 ENSG00000259784 152 Uncharacterized protein 9606.ENSP00000455585 ZNF853 659 Zinc finger protein 853; Zinc fingers C2H2-type 9606.ENSP00000455596 TP53TG3D 124 TP53 target 3D; May play a significant role in p53/TP53-mediating signaling pathway 9606.ENSP00000455607 PHKG2 406 Phosphorylase b kinase gamma catalytic chain, liver/testis isoform; Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (By similarity); Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family 9606.ENSP00000455625 ARPP19 112 cAMP-regulated phosphoprotein 19; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. May indirectly enhance GAP-43 expression; Belongs to the endosulfine family 9606.ENSP00000455643 ST20-MTHFS 179 5-formyltetrahydrofolate cyclo-ligase; ST20-MTHFS readthrough; Belongs to the 5-formyltetrahydrofolate cyclo-ligase family 9606.ENSP00000455659 ENSG00000260869 93 Uncharacterized protein 9606.ENSP00000455698 STMND1 276 Stathmin domain containing 1 9606.ENSP00000455711 SCRT1 348 Transcriptional repressor scratch 1; Transcriptional repressor that binds E-box motif CAGGTG. Can modulate the action of basic helix-loop-helix (bHLH) transcription factors, critical for neuronal differentiation; SNAG transcriptional repressors 9606.ENSP00000455771 ENSG00000158427 45 Thymosin beta 15B 9606.ENSP00000455785 KCTD13 329 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission. The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity) 9606.ENSP00000455811 LY6L 138 Lymphocyte antigen 6L; Protein LOC101928108 9606.ENSP00000455826 GOLGA8T 631 Golgin A8 family member T 9606.ENSP00000455854 TEX38 206 Testis-expressed protein 38; Testis expressed 38 9606.ENSP00000455897 MRC1 1456 Macrophage mannose receptor 1; Mediates the endocytosis of glycoproteins by macrophages. Binds both sulfated and non-sulfated polysaccharide chains; C-type lectin domain containing 9606.ENSP00000455906 MUC22 1773 Mucin-22; Mucin 22; Mucins 9606.ENSP00000455948 CLEC19A 136 C-type lectin domain containing 19A 9606.ENSP00000455971 FAM229A 127 Protein FAM229A; Family with sequence similarity 229 member A; Belongs to the FAM229 family 9606.ENSP00000456026 SMLR1 107 Small leucine rich protein 1 9606.ENSP00000456206 TUBB8 444 Tubulin beta-8 chain; Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). TUBB8 has a key role in meiotic spindle assembly and oocyte maturation; Belongs to the tubulin family 9606.ENSP00000456226 PRRT2 394 Interferon induced transmembrane protein domain containing; Belongs to the CD225/Dispanin family 9606.ENSP00000456333 TMEM210 147 Transmembrane protein 210 9606.ENSP00000456336 ENSG00000260007 92 Uncharacterized protein 9606.ENSP00000456337 C15orf65 121 Uncharacterized protein C15orf65; Chromosome 15 open reading frame 65 9606.ENSP00000456340 DET1 561 DET1 homolog; Component of the E3 ubiquitin ligase DCX DET1-COP1 complex, which is required for ubiquitination and subsequent degradation of target proteins. The complex is involved in JUN ubiquitination and degradation 9606.ENSP00000456348 PARP6 630 poly(ADP-ribose) polymerase family member 6 9606.ENSP00000456401 GOLGA8J 632 Golgin A8 family member J; Belongs to the GOLGA8 family 9606.ENSP00000456405 MLST8 326 Target of rapamycin complex subunit LST8; Subunit of both mTORC1 and mTORC2, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1- mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up- [...] 9606.ENSP00000456480 SNX29 813 Sorting nexin 29 9606.ENSP00000456548 ELFN1 828 Protein ELFN1; Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes; Fibronectin type III domain containing 9606.ENSP00000456566 RNF151 245 RING finger protein 151; May be involved in acrosome formation of spermatids; Ring finger proteins 9606.ENSP00000456594 TMEM178B 294 Transmembrane protein 178B 9606.ENSP00000456609 STRA6 706 Receptor for retinol uptake STRA6; Functions as retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1. Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A. Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and it [...] 9606.ENSP00000456743 KLHL36 616 Kelch-like protein 36; Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; BTB domain containing 9606.ENSP00000456782 ZDHHC7 345 Palmitoyltransferase; Zinc finger DHHC-type containing 7; Belongs to the DHHC palmitoyltransferase family 9606.ENSP00000456850 THEGL 465 Testicular haploid expressed gene protein-like; Theg spermatid protein like 9606.ENSP00000456861 TBC1D3G 549 TBC1 domain family member 3G; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000456868 ENSG00000259916 347 annotation not available 9606.ENSP00000456894 GOLGA8H 632 Golgin A8 family member H; Belongs to the GOLGA8 family 9606.ENSP00000456927 GOLGA8M 632 Golgin A8 family member M 9606.ENSP00000456953 POTEB2 544 POTE ankyrin domain family member B2; Belongs to the POTE family 9606.ENSP00000457016 INO80E 244 INO80 complex subunit E; Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair 9606.ENSP00000457111 ENSG00000260548 37 Uncharacterized protein 9606.ENSP00000457161 C1orf234 121 Testis-expressed protein 46; Chromosome 1 open reading frame 234 9606.ENSP00000457168 SZT2 3375 KICSTOR complex protein SZT2; As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by gluco [...] 9606.ENSP00000457205 C15orf59 293 UPF0583 protein C15orf59; Chromosome 15 open reading frame 59 9606.ENSP00000457206 SPSB3 355 SPRY domain-containing SOCS box protein 3; May be a substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins 9606.ENSP00000457230 WWOX 414 WW domain-containing oxidoreductase; Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000457241 TSNAXIP1 712 Translin-associated factor X-interacting protein 1; Possible role in spermatogenesis 9606.ENSP00000457243 NOL3 270 Nucleolar protein 3; Isoform 1: May be involved in RNA splicing; Caspase recruitment domain containing 9606.ENSP00000457258 OGFOD1 542 Prolyl 3-hydroxylase OGFOD1; Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro-62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation; Belongs to the TPA1 family 9606.ENSP00000457353 EME2 379 Probable crossover junction endonuclease EME2; Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures; Belongs to the EME1/MMS4 family 9606.ENSP00000457380 CEMP1 247 Cementoblastoma-derived protein 1; May play a role in development of the periodontium which surrounds and supports the teeth by promoting the differentiation of multi-potent cells from the periodontal ligament into cementoblasts to form the cementum. Binds hydroxyapatite and may promote the biomineralization of the cementum. Also promotes cell proliferation 9606.ENSP00000457386 SMIM1 78 Small integral membrane protein 1; Regulator of red blood cell formation; Belongs to the SMIM1 family 9606.ENSP00000457408 KIAA0513 411 Uncharacterized protein KIAA0513; KIAA0513 9606.ENSP00000457411 USP10 802 Ubiquitin carboxyl-terminal hydrolase 10; Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability: in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN [...] 9606.ENSP00000457421 PECAM1 738 Platelet endothelial cell adhesion molecule; Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions. Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes. Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils. Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viab [...] 9606.ENSP00000457466 CHD9 2881 Chromodomain-helicase-DNA-binding protein 9; Acts as a transcriptional coactivator for PPARA and possibly other nuclear receptors. Proposed to be a ATP-dependent chromatin remodeling protein. Has DNA-dependent ATPase activity and binds to A/T-rich DNA. Associates with A/T-rich regulatory regions in promoters of genes that participate in the differentiation of progenitors during osteogenesis (By similarity); Belongs to the SNF2/RAD54 helicase family 9606.ENSP00000457492 TMEM219 240 Insulin-like growth factor-binding protein 3 receptor; Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding 9606.ENSP00000457511 CCDC179 68 Coiled-coil domain containing 179 9606.ENSP00000457513 COX4I1 169 Cytochrome c oxidase subunit 4 isoform 1, mitochondrial; This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport 9606.ENSP00000457539 APOBR 1097 Apolipoprotein B receptor; Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG- VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in mac [...] 9606.ENSP00000457593 NFAT5 1548 Nuclear factor of activated T-cells 5; Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes. Mediates the transcriptional response to hypertonicity. Positively regulates the transcription of LCN2 and S100A4 genes; optimal transactivation of these genes requires the presence of DDX5/DDX17. Binds the DNA consensus sequence 5'- [ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3'; Nuclear factors of activated T-cells 9606.ENSP00000457625 DBNDD1 278 Dysbindin domain containing 1 9606.ENSP00000457654 ENSG00000261717 141 Uncharacterized protein 9606.ENSP00000457689 ENSG00000233917 544 POTE ankyrin domain family member B; Belongs to the POTE family 9606.ENSP00000457701 LOC730098 87 HCG2040265, isoform CRA_a; Uncharacterized protein; cDNA FLJ50015 9606.ENSP00000457703 UBL7 380 Ubiquitin-like protein 7; Ubiquitin like 7 9606.ENSP00000457704 ENSG00000256825 358 Zinc finger protein 268 9606.ENSP00000457718 ENSG00000272617 164 Conserved oligomeric Golgi complex subunit 8 9606.ENSP00000457723 RNPS1 305 RNA-binding protein with serine-rich domain 1; Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the E [...] 9606.ENSP00000457733 SLC25A24 477 Calcium-binding mitochondrial carrier protein SCaMC-1; Calcium-dependent mitochondrial solute carrier. Mediates the reversible, electroneutral exchange of Mg-ATP or Mg-ADP against phosphate ions, catalyzing the net uptake or efflux of adenine nucleotides across the mitochondrial inner membrane. Nucleotide transport is inactive when cytosolic calcium levels are low, and is activated by an increase in cytosolic calcium levels. May play a role in protecting cells against oxidative stress- induced cell death, probably by promoting the formation of calcium-phosphate precipitates in the mito [...] 9606.ENSP00000457748 RGSL1 1076 Regulator of G protein signaling like 1 9606.ENSP00000457788 MAN2C1 1057 Alpha-mannosidase 2C1; Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm; Belongs to the glycosyl hydrolase 38 family 9606.ENSP00000457807 KCNJ18 433 Inward rectifier potassium channel 18; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium; Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily 9606.ENSP00000457810 CENPT 561 Centromere protein T; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Part of a nucleosome- associated complex that binds specifically to histone H3- containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds an [...] 9606.ENSP00000457904 GOLGA8Q 632 Golgin A8 family member Q 9606.ENSP00000457935 OST4 37 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4; Acts as component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Required for efficient N- glycosylation. Specifically involved in maintaining stability of STT3A-containing OST complexes; Belongs to the OST4 family 9606.ENSP00000457962 TGFBR3L 316 Transforming growth factor-beta receptor type 3-like protein; Transforming growth factor beta receptor 3 like 9606.ENSP00000457991 PHLPP2 1323 PH domain leucine-rich repeat-containing protein phosphatase 2; Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT1, 'Ser-660' of PRKCB isoform beta-II and 'Ser-657' of PRKCA. Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser- 473' of Akt triggers apopt [...] 9606.ENSP00000458018 HSPB9 159 Heat shock protein family B member 9 9606.ENSP00000458065 DUX4 424 Double homeobox protein 4; Involved in transcriptional regulation. May regulate microRNA (miRNA) expression; Belongs to the paired homeobox family 9606.ENSP00000458075 ENSG00000261740 249 BOLA2-SMG1P6 readthrough; BolA-like protein 2 9606.ENSP00000458130 GOLGA8G 648 Golgin A8 family member G; Belongs to the GOLGA8 family 9606.ENSP00000458162 ACTG1 375 Actin, cytoplasmic 2; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells; Belongs to the actin family 9606.ENSP00000458290 METTL4 472 Methyltransferase-like protein 4; Probable methyltransferase 9606.ENSP00000458316 INCA1 236 Protein INCA1; Inhibitor of CDK, cyclin A1 interacting protein 1; Belongs to the INCA family 9606.ENSP00000458355 DNAH2 4427 Dynein heavy chain 2, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity); Dyneins, axonemal 9606.ENSP00000458537 CTRL 264 Chymotrypsin-like protease CTRL-1; Chymotrypsin like; Belongs to the peptidase S1 family 9606.ENSP00000458570 PCDHGA4 962 Protocadherin gamma-A4; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000458585 MMP12 470 Macrophage metalloelastase; May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3; Belongs to the peptidase M10A family 9606.ENSP00000458663 CIC 1608 Protein capicua homolog; Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development 9606.ENSP00000458715 CARD14 1004 Caspase recruitment domain-containing protein 14; Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14- induced activation of NF-kappa-B and p38/JNK MAP kinases. May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis; Caspase recruitment domain containing 9606.ENSP00000458762 NMRAL1 299 NmrA-like family domain-containing protein 1; Redox sensor protein. Undergoes restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP(+) levels. At low NADPH concentrations the protein is found mainly as a monomer, and binds argininosuccinate synthase (ASS1), the enzyme involved in nitric oxide synthesis. Association with ASS1 impairs its activity and reduces the production of nitric oxide, which subsecuently prevents apoptosis. Under normal NADPH concentrations, the protein is found as a dimer and hides the binding site for ASS1. The homodimer b [...] 9606.ENSP00000458770 NDUFAB1 156 Acyl carrier protein, mitochondrial; Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain; Belongs to the acyl carrier protein (ACP) family 9606.ENSP00000458772 C19orf84 186 Uncharacterized protein C19orf84; Chromosome 19 open reading frame 84 9606.ENSP00000458791 GPR139 353 Probable G-protein coupled receptor 139; Orphan receptor. Seems to act through a G(q/11)-mediated pathway; G protein-coupled receptors, Class A orphans 9606.ENSP00000458832 ALOX15 662 Arachidonate 15-lipoxygenase; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid into 12- hydroperoxyeicosatetraenoic acid/12-HPETE and 15- hydroperoxyeicosatetraenoic acid/15-HPETE. Also converts linoleic acid to 13-hydroperoxyoctadecadienoic acid. May also act on (12S)- hydroperoxyeicosatetraenoic acid/(12S)-HPETE to produce hepoxilin A3. Probably plays an important role in the immune and inflammatory responses. Through the [...] 9606.ENSP00000458866 ENSG00000263264 382 annotation not available 9606.ENSP00000458954 NUP88 741 Nuclear pore complex protein Nup88; Essential component of nuclear pore complex; Nucleoporins 9606.ENSP00000458977 DPEP2 486 Dipeptidase 2; Probable metalloprotease which hydrolyzes leukotriene D4 (LTD4) into leukotriene E4 (LTE4) 9606.ENSP00000458986 CLUH 1309 Clustered mitochondria protein homolog; mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear- encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis 9606.ENSP00000459028 OR1D5 312 Olfactory receptor 1D5; Odorant receptor; Olfactory receptors, family 1 9606.ENSP00000459043 CCDC64B 508 BICD family-like cargo adapter 2; Coiled-coil domain containing 64B 9606.ENSP00000459216 ZNF578 590 Zinc finger protein 578; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000459439 GFY 518 Golgi-associated olfactory signaling regulator; Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity) 9606.ENSP00000459451 ACSM2A 577 Acyl-coenzyme A synthetase ACSM2A, mitochondrial; Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity); Acyl-CoA synthetase family 9606.ENSP00000459533 LITAF 161 Lipopolysaccharide-induced tumor necrosis factor-alpha factor; Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation. Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps downregulate downstream signaling cascades. Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes. Probably plays a role in regulating protein degradation via its interaction with NEDD4. May also contribute to the regulation of gene expression in the nucleus. Binds DNA (in vitro) and may play a s [...] 9606.ENSP00000459551 LRRC37A2 1700 Leucine-rich repeat-containing protein 37A2; Leucine rich repeat containing 37 member A2 9606.ENSP00000459566 ZNF75A 296 Zinc finger protein 75A; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000459580 SPATA22 363 Spermatogenesis-associated protein 22; Meiosis-specific protein required for homologous recombination in meiosis I 9606.ENSP00000459615 SRGAP2 1071 SLIT-ROBO Rho GTPase-activating protein 2; RAC1 GTPase activating protein (GAP) that binds and deforms membranes, and regulates actin dynamics to regulate cell migration and differentiation. Plays an important role in different aspects of neuronal morphogenesis and migration mainly during development of the cerebral cortex. This includes the biogenesis of neurites, where it is required for both axons and dendrites outgrowth, and the maturation of the dendritic spines. Also stimulates the branching of the leading process and negatively regulates neuron radial migration in the cerebral c [...] 9606.ENSP00000459799 TNK1 666 Non-receptor tyrosine-protein kinase TNK1; Involved in negative regulation of cell growth. Has tumor suppressor properties. Plays a negative regulatory role in the Ras-MAPK pathway. May function in signaling pathways utilized broadly during fetal development and more selectively in adult tissues and in cells of the lymphohematopoietic system. Could specifically be involved in phospholipid signal transduction; Belongs to the protein kinase superfamily. Tyr protein kinase family 9606.ENSP00000459943 ANKFY1 1211 Rabankyrin-5; Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1- dependent manner. Involved in endosome-to-Golgi transport and biosyn [...] 9606.ENSP00000459962 ENSG00000196689 839 Transient receptor potential cation channel, subfamily V, member 1; Ligand-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activation by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius, exhibit [...] 9606.ENSP00000460070 GTF2I 998 General transcription factor II-I; Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C- FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required fo [...] 9606.ENSP00000460236 SPON1 807 Spondin-1; Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell 9606.ENSP00000460274 PCDHGA9 932 Protocadherin gamma-A9; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000460348 PRPF8 2335 Pre-mRNA-processing-splicing factor 8; Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site 9606.ENSP00000460371 OCLM 44 Oculomedin 9606.ENSP00000460380 USP6 1406 Ubiquitin carboxyl-terminal hydrolase 6; Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6- dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation; Ubiquitin specific peptidases 9606.ENSP00000460547 ZFP90 636 Zinc finger protein 90 homolog; Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes; Zinc fingers C2H2-type 9606.ENSP00000460602 ERVMER34-1 563 Endogenous retrovirus group MER34 member 1 Env polyprotein; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity); Envelope ERV derived genes 9606.ENSP00000460665 CCER2 266 Coiled-coil glutamate rich protein 2 9606.ENSP00000460823 TOM1L1 476 TOM1-like protein 1; Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions (By similarity); Belongs to the TOM1 family 9606.ENSP00000460825 WSCD1 575 WSC domain containing 1 9606.ENSP00000460850 CLUAP1 413 Clusterin-associated protein 1; Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling 9606.ENSP00000460871 RSL1D1 490 Ribosomal L1 domain-containing protein 1; Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage; Belongs to the universal ribosomal protein uL1 family. Highly divergent 9606.ENSP00000460885 ENSG00000103426 1048 Coronin-7; F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post- Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology; Belongs to the WD repeat coronin family 9606.ENSP00000460964 ATPAF1 351 ATP synthase mitochondrial F1 complex assembly factor 1; May play an essential role for the assembly of the mitochondrial F1-F0 complex 9606.ENSP00000460971 ZP2 745 Zona pellucida sperm-binding protein 2; The mammalian zona pellucida, which mediates species- specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor 9606.ENSP00000461007 VR1 839 Transient receptor potential cation channel subfamily V member 1; Ligand-activated non-selective calcium permeant cation channel involved in detection of noxious chemical and thermal stimuli. Seems to mediate proton influx and may be involved in intracellular acidosis in nociceptive neurons. Involved in mediation of inflammatory pain and hyperalgesia. Sensitized by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases, which involves PKC isozymes and PCL. Activation by vanilloids, like capsaicin, and temperatures higher than 42 degrees Celsius, exhibits [...] 9606.ENSP00000461269 SCIMP 145 SLP adapter and CSK-interacting membrane protein; Lipid tetraspanin-associated transmembrane adapter/mediator involved in major histocompatibility complex (MHC) class II signaling transduction. Required in generating the calcium response and enhancing ERK activity upon MHC-II stimulation 9606.ENSP00000461295 ENSG00000260914 428 Uncharacterized protein; Belongs to the AAA ATPase family 9606.ENSP00000461324 ENSG00000262660 442 Mitochondrial dicarboxylate carrier; Involved in translocation of malonate, malate and succinate in exchange for phosphate, sulfate, sulfite or thiosulfate across mitochondrial inner membrane 9606.ENSP00000461382 SLC43A2 573 Large neutral amino acids transporter small subunit 4; Sodium-, chloride-, and pH-independent high affinity transport of large neutral amino acids; Belongs to the SLC43A transporter (TC 2.A.1.44) family 9606.ENSP00000461386 TRIM16L 348 Tripartite motif-containing protein 16-like protein; Tripartite motif containing 16 like; Belongs to the TRIM/RBCC family 9606.ENSP00000461388 OVCA2 227 OVCA2, serine hydrolase domain containing; Belongs to the LovG family 9606.ENSP00000461413 ZNF286B 522 Putative zinc finger protein 286B; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000461425 ZNF66 573 Putative zinc finger protein 66; May be involved in transcriptional regulation 9606.ENSP00000461433 FAM195B 118 Mapk-regulated corepressor-interacting protein 1; The phosphorylation status of MCRIP1 functions as a molecular switch to regulate epithelial-mesenchymal transition. Unphosphorylated MCRIP1 binds to and inhibits the transcriptional corepressor CTBP(s). When phosphorylated by MAPK/ERK, MCRIP1 releases CTBP(s) resulting in transcriptional silencing of the E- cadherin gene and induction of epithelial-mesenchymal transition 9606.ENSP00000461749 CTDNEP1 244 CTD nuclear envelope phosphatase 1; Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and [...] 9606.ENSP00000461785 RAB40B 278 Ras-related protein Rab-40B; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the small GTPase superfamily. Rab family 9606.ENSP00000461862 PCDHGB3 929 Protocadherin gamma-B3; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000461930 MRPS21 87 Mitochondrial ribosomal protein S21; Belongs to the bacterial ribosomal protein bS21 family 9606.ENSP00000461945 RAB31 195 Ras-related protein Rab-31; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Pl [...] 9606.ENSP00000462046 PIRT 137 Phosphoinositide-interacting protein; Regulatory subunit of TRPV1, a molecular sensor of noxious heat and capsaicin. Positively regulates TRPV1 channel activity via phosphatidylinositol 4,5-bisphosphate (PIP2). Binds various phosphoinositide, including phosphatidylinositol 4,5- bisphosphate (PIP2), but not phosphatidylinositol (PI) (By similarity) 9606.ENSP00000462054 ZFP92 416 Zinc finger protein 92 homolog; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000462099 RASSF5 418 Ras association domain-containing protein 5; Potential tumor suppressor. Seems to be involved in lymphocyte adhesion by linking RAP1A activation upon T-cell receptor or chemokine stimulation to integrin activation. Isoform 2 stimulates lymphocyte polarization and the patch-like distribution of ITGAL/LFA-1, resulting in an enhanced adhesion to ICAM1. Together with RAP1A may participate in regulation of microtubule growth. The association of isoform 2 with activated RAP1A is required for directional movement of endothelial cells during wound healing. May be involved in regulation of Ras [...] 9606.ENSP00000462106 SMIM21 101 Small integral membrane protein 21 9606.ENSP00000462116 SAP30BP 308 SAP30-binding protein; Induces cell death. May act as a transcriptional corepressor of a gene related to cell survival. May be involved in the regulation of beta-2-microglobulin genes; Belongs to the HCNGP family 9606.ENSP00000462154 BAHCC1 2639 BAH domain and coiled-coil containing 1 9606.ENSP00000462269 ZNF488 340 Zinc finger protein 488; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000462309 CD300LF 305 CMRF35-like molecule 1; Acts as an inhibitory receptor for myeloid cells and mast cells. Positively regulates the phagocytosis of apoptotic cells (efferocytosis) via phosphatidylserine (PS) recognition; recognizes and binds PS as a ligand which is expressed on the surface of apoptotic cells. Plays an important role in the maintenance of immune homeostasis, by promoting macrophage-mediated efferocytosis and by inhibiting dendritic cell-mediated efferocytosis (By similarity). Negatively regulates Fc epsilon receptor-dependent mast cell activation and allergic responses via binding to cer [...] 9606.ENSP00000462333 ENGASE 743 Cytosolic endo-beta-N-acetylglucosaminidase; Endoglycosidase that releases N-glycans from glycoproteins by cleaving the beta-1,4-glycosidic bond in the N,N'-diacetylchitobiose core. Involved in the processing of free oligosaccharides in the cytosol 9606.ENSP00000462337 VEZF1 521 Vascular endothelial zinc finger 1; Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3; Zinc fingers C2H2-type 9606.ENSP00000462349 STARD6 220 StAR-related lipid transfer protein 6; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity); StAR related lipid transfer domain containing 9606.ENSP00000462355 HIST2H4B 103 Histone cluster 2 H4 family member b; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000462419 FAM222B 562 Protein FAM222B; Family with sequence similarity 222 member B 9606.ENSP00000462435 TPPP3 176 Tubulin polymerization-promoting protein family member 3; Binds tubulin and has microtubule bundling activity. May play a role in cell proliferation and mitosis; Tubulin polymerization promoting proteins 9606.ENSP00000462468 YES1 543 Tyrosine-protein kinase Yes; Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGRF, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly. Participates in the phosphorylation of specific junctional components su [...] 9606.ENSP00000462521 TXNIP 391 Thioredoxin-interacting protein; May act as an oxidative stress mediator by inhibiting thioredoxin activity or by limiting its bioavailability. Interacts with COPS5 and restores COPS5-induced suppression of CDKN1B stability, blocking the COPS5-mediated translocation of CDKN1B from the nucleus to the cytoplasm. Functions as a transcriptional repressor, possibly by acting as a bridge molecule between transcription factors and corepressor complexes, and over- expression will induce G0/G1 cell cycle arrest. Required for the maturation of natural killer cells. Acts as a suppressor of tumor [...] 9606.ENSP00000462600 NBPF15 670 Neuroblastoma breakpoint family member 15; NBPF member 15 9606.ENSP00000462647 ADCYAP1 176 Pituitary adenylate cyclase-activating polypeptide; Binding to its receptor activates G proteins and stimulates adenylate cyclase in pituitary cells. Promotes neuron projection development through the RAPGEF2/Rap1/B-Raf/ERK pathway. In chromaffin cells, induces long-lasting increase of intracellular calcium concentrations and neuroendocrine secretion (By similarity). Involved in the control of glucose homeostasis, induces insulin secretion by pancreatic beta cells (By similarity); Belongs to the glucagon family 9606.ENSP00000462664 POLI 740 DNA polymerase iota; Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but [...] 9606.ENSP00000462667 HIST2H4A 103 Histone cluster 2 H4 family member a; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000462701 CDH8 799 Cadherin-8; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types 9606.ENSP00000462717 CUEDC1 386 CUE domain containing 1 9606.ENSP00000462729 OTUD7B 843 OTU domain-containing protein 7B; Negative regulator of the non-canonical NF-kappa-B pathway that acts by mediating deubiquitination of TRAF3, an inhibitor of the NF-kappa-B pathway, thereby acting as a negative regulator of B-cell responses. In response to non-canonical NF- kappa-B stimuli, deubiquitinates 'Lys-48'-linked polyubiquitin chains of TRAF3, preventing TRAF3 proteolysis and over-activation of non-canonical NF-kappa-B. Negatively regulates mucosal immunity against infections (By similarity). Deubiquitinates ZAP70, and thereby regulates T cell receptor (TCR) signaling that le [...] 9606.ENSP00000462745 DCAF8L2 631 DDB1- and CUL4-associated factor 8-like protein 2; DDB1 and CUL4 associated factor 8 like 2; Belongs to the WD repeat DCAF8 family 9606.ENSP00000462799 TBC1D29 150 TBC1 domain family member 29 9606.ENSP00000462879 ENSG00000266202 159 Uncharacterized protein; Belongs to the complex I LYR family 9606.ENSP00000462945 MSL1 351 Male-specific lethal 1 homolog; Component of histone acetyltransferase complex responsible for the majority of histone H4 acetylation at 'Lys-16' (H4K16ac) which is implicated in the formation of higher-order chromatin structure. Greatly enhances MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at 'Lys-34' (H2BK34Ub). This modification in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1. In the MSL complex, acts as a scaffold to tether MSL3 and KAT8 together fo [...] 9606.ENSP00000462963 TEFM 360 Transcription elongation factor, mitochondrial; Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery; Belongs to the TEFM family 9606.ENSP00000462996 SPATA33 140 Spermatogenesis-associated protein 33; Spermatogenesis associated 33 9606.ENSP00000463013 OAZ2 189 Ornithine decarboxylase antizyme 2; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (By similarity) 9606.ENSP00000463024 ENSG00000255245 112 FXYD domain-containing ion transport regulator; FXYD6-FXYD2 readthrough; Belongs to the FXYD family 9606.ENSP00000463027 NCOA4 650 Nuclear receptor coactivator 4; Enhances the androgen receptor transcriptional activity in prostate cancer cells. Ligand-independent coactivator of the peroxisome proliferator-activated receptor (PPAR) gamma 9606.ENSP00000463032 FAM72C 149 Protein FAM72C; Family with sequence similarity 72 member C; Belongs to the FAM72 family 9606.ENSP00000463051 GDF2 429 Growth/differentiation factor 2; Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG 9606.ENSP00000463057 ENSG00000263464 164 Peptidyl-prolyl cis-trans isomerase A-like 4C; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily 9606.ENSP00000463058 RBM8A 174 RNA-binding protein 8A; Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influenc [...] 9606.ENSP00000463069 RNF43 783 E3 ubiquitin-protein ligase RNF43; E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone; Ring finger proteins 9606.ENSP00000463080 MARCH10 846 Probable E3 ubiquitin-protein ligase MARCH10; E3 ubiquitin-protein ligase (Probable). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates; Membrane associated ring-CH-type fingers 9606.ENSP00000463092 MSMB 114 Beta-microseminoprotein; Microseminoprotein beta 9606.ENSP00000463151 RBP3 1247 Retinol-binding protein 3; IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina 9606.ENSP00000463154 ANP32E 268 Acidic leucine-rich nuclear phosphoprotein 32 family member E; Histone chaperone that specifically mediates the genome- wide removal of histone H2A.Z/H2AFZ from the nucleosome: removes H2A.Z/H2AFZ from its normal sites of deposition, especially from enhancer and insulator regions. Not involved in deposition of H2A.Z/H2AFZ in the nucleosome. May stabilize the evicted H2A.Z/H2AFZ-H2B dimer, thus shifting the equilibrium towards dissociation and the off-chromatin state. Inhibits activity of protein phosphatase 2A (PP2A). Does not inhibit protein phosphatase 1. May play a role in cerebella [...] 9606.ENSP00000463159 C19orf47 422 Uncharacterized protein C19orf47; Chromosome 19 open reading frame 47 9606.ENSP00000463188 TRIM16 564 Tripartite motif-containing protein 16; May play a role in the regulation of keratinocyte differentiation; Tripartite motif containing 9606.ENSP00000463201 SNURF 71 SNRPN upstream reading frame 9606.ENSP00000463233 PABPC4L 370 Polyadenylate-binding protein 4-like; May bind RNA; RNA binding motif containing 9606.ENSP00000463235 ENSG00000266086 62 Uncharacterized protein 9606.ENSP00000463245 TMEM98 226 Transmembrane protein 98 9606.ENSP00000463287 KLF14 323 Kruppel like factor 14 9606.ENSP00000463325 PTPRM 1465 Receptor-type tyrosine-protein phosphatase mu; Involved in cell-cell adhesion through homophilic interactions. May play a key role in signal transduction and growth control; Fibronectin type III domain containing 9606.ENSP00000463334 MIF4GD 263 MIF4G domain-containing protein; MIF4G domain containing 9606.ENSP00000463361 SMIM6 62 Small integral membrane protein 6 9606.ENSP00000463375 TMEM200C 621 Transmembrane protein 200C 9606.ENSP00000463379 ENSG00000215472 228 RPL17-C18orf32 readthrough; Belongs to the universal ribosomal protein uL22 family 9606.ENSP00000463393 SEC22B 215 Vesicle-trafficking protein SEC22b; SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER; Belongs to the synaptobrevin family 9606.ENSP00000463419 PPIAL4F 164 Peptidylprolyl isomerase A like 4F 9606.ENSP00000463533 KCNH6 994 Potassium voltage-gated channel subfamily H member 6; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.2/KCNH6 sub-subfamily 9606.ENSP00000463559 MYL12B 172 Myosin regulatory light chain 12B; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion; EF-hand domain containing 9606.ENSP00000463574 ACP6 428 Lysophosphatidic acid phosphatase type 6; Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol. Has highest activity with lysophosphatidic acid containing myristate (C14:0), monounsaturated oleate (C18:1) or palmitate (C16:0), and lower activity with C18:0 and C6:0 lysophosphatidic acid 9606.ENSP00000463650 RNF115 304 E3 ubiquitin-protein ligase RNF115; E3 ubiquitin-protein ligase that mediates E2-dependent, 'Lys-48'- and/or 'Lys-63'-linked polyubiquitination of substrates and may play a role in diverse biological processes. Through their polyubiquitination, may play a role in the endosomal trafficking and degradation of membrane receptors including EGFR, FLT3, MET and CXCR4; Ring finger proteins 9606.ENSP00000463653 RBFOX3 312 RNA binding protein fox-1 homolog 3; Pre-mRNA alternative splicing regulator. Regulates alternative splicing of RBFOX2 to enhance the production of mRNA species that are targeted for nonsense-mediated decay (NMD); RNA binding motif containing 9606.ENSP00000463752 GJD3 294 Gap junction delta-3 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell; Belongs to the connexin family. Delta-type subfamily 9606.ENSP00000463762 CCDC79 727 Telomere repeats-binding bouquet formation protein 1; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and [...] 9606.ENSP00000463778 KCNJ12 433 ATP-sensitive inward rectifier potassium channel 12; Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potas [...] 9606.ENSP00000463784 RPL26 145 Ribosomal protein L26 9606.ENSP00000463957 NBPF10 3733 Neuroblastoma breakpoint family member 10; NBPF member 10 9606.ENSP00000463978 SLC16A3 465 Monocarboxylate transporter 4; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity); Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family 9606.ENSP00000463981 ENSG00000265118 171 annotation not available 9606.ENSP00000464006 PITPNC1 332 Cytoplasmic phosphatidylinositol transfer protein 1; Phosphatidylinositol transfer proteins mediate the monomeric transport of lipids by shielding a lipid from the aqueous environment and binding the lipid in a hydrophobic cavity. Able to transfer phosphatidylinositol in vitro 9606.ENSP00000464030 IKBKE 716 Inhibitor of nuclear factor kappa-B kinase subunit epsilon; Serine/threonine kinase that plays an essential role in regulating inflammatory responses to viral infection, through the activation of the type I IFN, NF-kappa-B and STAT signaling. Also involved in TNFA and inflammatory cytokines, like Interleukin-1, signaling. Following activation of viral RNA sensors, such as RIG- I-like receptors, associates with DDX3X and phosphorylates interferon regulatory factors (IRFs), IRF3 and IRF7, as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the [...] 9606.ENSP00000464036 CDK11B 795 Cyclin-dependent kinase 11B; Plays multiple roles in cell cycle progression, cytokinesis and apoptosis. Involved in pre-mRNA splicing in a kinase activity-dependent manner. Isoform 7 may act as a negative regulator of normal cell cycle progression; Cyclin dependent kinases 9606.ENSP00000464040 KIAA0040 99 Uncharacterized protein KIAA0040; KIAA0040 9606.ENSP00000464050 DDX42 938 ATP-dependent RNA helicase DDX42; ATP-dependent RNA helicase. Binds to partially double- stranded RNAs (dsRNAs) in order to unwind RNA secondary structures. Unwinding is promoted in the presence of single-strand binding proteins. Mediates also RNA duplex formation thereby displacing the single-strand RNA binding protein. ATP and ADP modulate its activity: ATP binding and hydrolysis by DDX42 triggers RNA strand separation, whereas the ADP-bound form of the protein triggers annealing of complementary RNA strands. Involved in the survival of cells by interacting with TP53BP2 and thereby c [...] 9606.ENSP00000464060 NOTCH2NL 236 Notch homolog 2 N-terminal-like protein; May function in the Notch signaling pathway and regulate neutrophil differentiation 9606.ENSP00000464087 RNF213 5207 E3 ubiquitin-protein ligase RNF213; E3 ubiquitin-protein ligase involved in angiogenesis. Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression. Also has ATPase activity; Ring finger proteins 9606.ENSP00000464145 GDF10 478 Growth/differentiation factor 10; Growth factor involved in osteogenesis and adipogenesis. Plays an inhibitory role in the process of osteoblast differentiation via SMAD2/3 pathway. Plays an inhibitory role in the process of adipogenesis; Belongs to the TGF-beta family 9606.ENSP00000464162 GREB1L 1923 GREB1-like protein; Growth regulation by estrogen in breast cancer 1 like; Belongs to the GREB1 family 9606.ENSP00000464167 ENSG00000265303 110 Uncharacterized protein 9606.ENSP00000464218 ENSG00000187607 521 Zinc finger protein 286A; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000464258 VHLL 139 Von Hippel-Lindau-like protein; Functions as a dominant-negative VHL to serve as a protector of HIFalpha 9606.ENSP00000464265 UBBP4 229 Ubiquitin B pseudogene 4 9606.ENSP00000464272 FAM25E 175 Protein FAM25E; Family with sequence similarity 25 member E; Belongs to the FAM25 family 9606.ENSP00000464275 C17orf75 396 Protein Njmu-R1; May have a role in spermatogenesis 9606.ENSP00000464317 MYH3 1940 Myosin-3; Muscle contraction; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000464327 PTRH2 179 Peptidyl-tRNA hydrolase 2, mitochondrial; The natural substrate for this enzyme may be peptidyl- tRNAs which drop off the ribosome during protein synthesis; Belongs to the PTH2 family 9606.ENSP00000464330 C18orf63 685 Uncharacterized protein C18orf63; Chromosome 18 open reading frame 63 9606.ENSP00000464342 RPL36 105 60S ribosomal protein L36; Component of the large ribosomal subunit 9606.ENSP00000464383 ENSG00000263620 121 Uncharacterized protein 9606.ENSP00000464411 C18orf32 190 RPL17-C18orf32 readthrough; Chromosome 18 open reading frame 32; Belongs to the universal ribosomal protein uL22 family 9606.ENSP00000464443 IFT20 158 Intraflagellar transport protein 20 homolog; Part of intraflagellar transport (IFT) particles involved in ciliary process assembly. May play a role in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment 9606.ENSP00000464522 TIMM23 209 Mitochondrial import inner membrane translocase subunit Tim23; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane; Belongs to the Tim17/Tim22/Tim23 family 9606.ENSP00000464535 LRRC37A3 1634 Leucine-rich repeat-containing protein 37A3; Leucine rich repeat containing 37 member A3 9606.ENSP00000464619 ENSG00000270339 164 Peptidyl-prolyl cis-trans isomerase; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity) 9606.ENSP00000464743 FAM215A 114 Uncharacterized protein FAM215A; Family with sequence similarity 215 member A 9606.ENSP00000464780 TPGS2 304 Tubulin polyglutamylase complex subunit 2 9606.ENSP00000464788 ZNF285 597 Zinc finger protein 285; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000464813 RPL27 136 60S ribosomal protein L27; Component of the large ribosomal subunit. Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs 9606.ENSP00000464814 COASY 593 Bifunctional coenzyme A synthase; Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation; In the central section; belongs to the eukaryotic CoaD family 9606.ENSP00000464872 ZNF519 540 Zinc finger protein 519; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000464890 POU5F2 328 POU domain, class 5, transcription factor 2; Transcription factor that binds preferentially to the octamer motif (5'-ATGTTAAT-3'). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell (By similarity); POU class homeoboxes and pseudogenes 9606.ENSP00000464893 UNK 810 RING finger protein unkempt homolog; Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes; Zinc fingers CCCH-type 9606.ENSP00000464932 MFSD11 449 UNC93-like protein MFSD11; Major facilitator superfamily domain containing 11; Belongs to the unc-93 family 9606.ENSP00000464955 PLEKHJ1 277 Pleckstrin homology domain containing J1 9606.ENSP00000464956 C19orf83 104 Chromosome 19 open reading frame 83 9606.ENSP00000464976 ZNF850 1090 Zinc finger protein 850; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000465039 MAP4K1 833 Mitogen-activated protein kinase kinase kinase kinase 1; Serine/threonine-protein kinase, which may play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. May play a role in hematopoietic lineage decisions and growth regulation. Able to autophosphorylate 9606.ENSP00000465075 SPC24 197 Kinetochore protein Spc24; Acts as a component of the essential kinetochore- associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules 9606.ENSP00000465099 CD3EAP 512 DNA-directed RNA polymerase I subunit RPA34; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation; Belongs to the eukaryotic RPA34 RNA polymerase subunit family 9606.ENSP00000465121 ZNF226 803 Zinc finger protein 226; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000465204 CNTD1 330 Cyclin N-terminal domain containing 1 9606.ENSP00000465212 ENSG00000267360 120 Uncharacterized protein; Zinc finger protein 585B 9606.ENSP00000465213 POP4 220 Ribonuclease P protein subunit p29; Part of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. May function with RPP38 to coordinate the nucleolar targeting and/or assembly of RNase P 9606.ENSP00000465231 GCOM1 765 GRINL1A combined protein 15; GRINL1A complex locus 1 9606.ENSP00000465260 C19orf26 453 Voltage-dependent calcium channel beta subunit-associated regulatory protein; Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis 9606.ENSP00000465261 TMC6 805 Transmembrane channel-like protein 6; Probable ion channel; Transmembrane channel likes 9606.ENSP00000465295 KCNJ16 453 Inward rectifier potassium channel 16; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ16 may be involved in the regulation of fluid and pH balance. In the kidney, together with KCNJ10, mediates basolater [...] 9606.ENSP00000465356 APOC1 83 Apolipoprotein C-I; Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction [...] 9606.ENSP00000465368 EDDM13 111 Epididymal protein 13; Protein LOC100506374 9606.ENSP00000465419 TJP3 928 Tight junction protein ZO-3; Membrane associated guanylate kinases 9606.ENSP00000465432 C19orf53 99 Leydig cell tumor 10 kDa protein homolog; May have a potential role in hypercalcemia of malignancy 9606.ENSP00000465500 TNFRSF11A 616 Tumor necrosis factor receptor superfamily member 11A; Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells; CD molecules 9606.ENSP00000465517 C18orf21 220 UPF0711 protein C18orf21; Chromosome 18 open reading frame 21 9606.ENSP00000465578 ZNF529 563 Zinc finger protein 529; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000465589 ACSBG2 666 Long-chain-fatty-acid--CoA ligase ACSBG2; Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis; Belongs to the ATP-dependent AMP-binding enzyme family. Bubblegum subfamily 9606.ENSP00000465617 IER2 223 Immediate early response gene 2 protein; DNA-binding protein that seems to act as a transcription factor. Involved in the regulation of neuronal differentiation, acts upon JNK-signaling pathway activation and plays a role in neurite outgrowth in hippocampal cells (By similarity). May mediate with FIBP FGF-signaling in the establishment of laterality in the embryo (By similarity). Promotes cell motility, seems to stimulate tumor metastasis; Belongs to the IER family 9606.ENSP00000465620 OVOL3 214 Putative transcription factor ovo-like protein 3; May act as a transcription regulator 9606.ENSP00000465638 TMEM100 134 Transmembrane protein 100; Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open p [...] 9606.ENSP00000465676 PIAS2 621 E3 SUMO-protein ligase PIAS2; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulator in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. The effects of this transcriptional coregulation, transactivation or silencing may vary depending upon the biological context and the PIAS2 isoform studied. However, it seems to be mostly involved in gene silencing. Binds to sumo [...] 9606.ENSP00000465734 SLC16A2 539 Monocarboxylate transporter 8; Very active and specific thyroid hormone transporter. Stimulates cellular uptake of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine. Does not transport Leu, Phe, Trp or Tyr; Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family 9606.ENSP00000465757 CCDC106 280 Coiled-coil domain-containing protein 106; Promotes the degradation of p53/TP53 protein and inhibits its transactivity 9606.ENSP00000465759 POLRMT 1230 DNA-directed RNA polymerase, mitochondrial; DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates 9606.ENSP00000465776 CCDC130 396 Coiled-coil domain containing 130; Belongs to the CWC16 family 9606.ENSP00000465894 MPPE1 396 Metallophosphoesterase 1; Metallophosphoesterase required for transport of GPI- anchor proteins from the endoplasmic reticulum to the Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient transport of GPI-anchor proteins; Belongs to the metallophosphoesterase superfamily. MPPE1 family 9606.ENSP00000465930 GALK1 392 Galactokinase; Major enzyme for galactose metabolism; Belongs to the GHMP kinase family. GalK subfamily 9606.ENSP00000465932 PRCD 54 Progressive rod-cone degeneration protein; Involved in vision 9606.ENSP00000465978 LOC644070 293 Putative germ cell-specific gene 1-like protein 2 9606.ENSP00000465992 KIF18B 852 Kinesin-like protein KIF18B; In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family 9606.ENSP00000466009 PPY 95 Pancreatic prohormone; Pancreatic hormone is synthesized in pancreatic islets of Langerhans and acts as a regulator of pancreatic and gastrointestinal functions; Endogenous ligands 9606.ENSP00000466047 ZNF581 197 Zinc finger protein 581; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000466051 ZNF404 552 Zinc finger protein 404; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000466058 RDH8 331 Retinol dehydrogenase 8; Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity); Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000466070 LYPD8 237 Ly6/PLAUR domain-containing protein 8; Secreted protein specifically required to prevent invasion of Gram-negative bacteria in the inner mucus layer of the colon epithelium, a portion of the large intestine which is free of commensal microbiota. Prevents invasion of flagellated microbiota by binding to the flagellum of bacteria, such as P.mirabilis, thereby inhibiting bacterial motility in the intestinal lumen. Segregation of intestinal bacteria and epithelial cells in the colon is required to preserve intestinal homeostasis; LY6/PLAUR domain containing 9606.ENSP00000466072 ZSCAN5B 495 Zinc finger and SCAN domain-containing protein 5B; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000466090 ELANE 267 Neutrophil elastase; Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis 9606.ENSP00000466121 C19orf40 215 Fanconi anemia core complex-associated protein 24; Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA 9606.ENSP00000466134 PRKCSH 535 Glucosidase 2 subunit beta; Regulatory subunit of glucosidase II; EF-hand domain containing 9606.ENSP00000466140 ENSG00000267335 130 Uncharacterized protein 9606.ENSP00000466174 ENSG00000267281 463 Uncharacterized protein 9606.ENSP00000466214 PDCD5 125 Programmed cell death protein 5; May function in the process of apoptosis 9606.ENSP00000466248 PLK5 336 Inactive serine/threonine-protein kinase PLK5; Inactive serine/threonine-protein kinase that plays a role in cell cycle progression and neuronal differentiation; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily 9606.ENSP00000466274 ZNF540 660 Zinc finger protein 540; May act as a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000466285 NLRP11 1033 NACHT, LRR and PYD domains-containing protein 11; Involved in inflammation; NLR family 9606.ENSP00000466298 STX10 249 Syntaxin-10; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network; Belongs to the syntaxin family 9606.ENSP00000466363 PIP5K1C 707 Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma; Catalyzes the phosphorylation of phosphatidylinositol 4- phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of PtdIns4P. Participates in a variety of cellular processes such as vesicle mediated transport [...] 9606.ENSP00000466379 ASNA1 348 ATPase ASNA1; ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail- anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. [...] 9606.ENSP00000466399 RAD51D 348 Uncharacterized protein; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single- stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The B [...] 9606.ENSP00000466477 TSSK6 273 Testis-specific serine/threonine-protein kinase 6; Required for sperm production and function. Plays a role in DNA condensation during postmeiotic chromatin remodeling (By similarity) 9606.ENSP00000466514 ENSG00000267157 77 Uncharacterized protein 9606.ENSP00000466542 TLE2 744 Transducin-like enhancer protein 2; Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling. The effects of full-length TLE family members may be modulated by association with dominant-negative AES (By similarity); Belongs to the WD repeat Groucho/TLE family 9606.ENSP00000466561 CEACAM16 425 Carcinoembryonic antigen-related cell adhesion molecule 16; Required for proper hearing, it may play a role in maintaining the integrity of the tectorial membrane; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000466639 ENSG00000267740 169 Uncharacterized protein 9606.ENSP00000466680 RND2 227 Rho-related GTP-binding protein RhoN; May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive member of the Rho subfamily (By similarity) 9606.ENSP00000466690 CCDC68 335 Coiled-coil domain-containing protein 68; Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells. Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly 9606.ENSP00000466714 ZNF266 549 Zinc finger protein 266; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000466718 LSM12 195 LSM12 homolog 9606.ENSP00000466775 APOC2 101 Apolipoprotein C-II; Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL 9606.ENSP00000466799 HSD17B1 328 Estradiol 17-beta-dehydrogenase 1; Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000466829 ENSG00000267168 100 Uncharacterized protein 9606.ENSP00000466834 ENSG00000267618 272 DNA repair protein RAD51 homolog 4; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single- stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication f [...] 9606.ENSP00000466880 FUT5 374 Alpha-(1,3)-fucosyltransferase 5; May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens; Fucosyltransferases 9606.ENSP00000466897 CIRBP 297 Cold-inducible RNA-binding protein; Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold- induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed 9606.ENSP00000466898 LPPR2 427 Lipid phosphate phosphatase-related protein type 2 9606.ENSP00000466907 ZNF524 264 Zinc finger protein 524; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000466933 S1PR2 353 Sphingosine 1-phosphate receptor 2; Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis 9606.ENSP00000466937 FHOD3 1622 FH1/FH2 domain-containing protein 3; Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes; Armadillo-like helical domain containing 9606.ENSP00000466953 WTIP 430 Wilms tumor protein 1-interacting protein; Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing. Negatively regulates Hippo signaling pathway and antagonizes phosphorylation of YAP1. Acts as a transcriptional corepressor for SNAI1 and SNAI2/SLUG-dependent repression of E-cadheri [...] 9606.ENSP00000466967 TRMT1 659 tRNA (guanine(26)-N(2))-dimethyltransferase; Dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl-L-methionine as donor of the methyl groups; Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family 9606.ENSP00000466971 TMUB2 321 Transmembrane and ubiquitin like domain containing 2 9606.ENSP00000466989 LRFN3 628 Leucine-rich repeat and fibronectin type-III domain-containing protein 3; Cell adhesion molecule that mediates homophilic cell- cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity); Fibronectin type III domain containing 9606.ENSP00000467024 RAD23A 363 UV excision repair protein RAD23 homolog A; Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to 'Lys-48'-linked polyubiquitin chains in a length-dependent manner and with a lower affinity to 'Lys-63'-linked polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome; Nucleotide excision repair 9606.ENSP00000467041 ENSG00000267140 123 INO80 complex subunit C; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair 9606.ENSP00000467083 MUM1 711 PWWP domain-containing protein MUM1; Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage; PWWP domain containing 9606.ENSP00000467107 RINL 566 Ras and Rab interactor-like protein; Guanine nucleotide exchange factor (GEF) for RAB5A and RAB22A that activates RAB5A and RAB22A by exchanging bound GDP for free GTP. Plays a role in endocytosis via its role in activating Rab family members (By similarity); VPS9 domain containing 9606.ENSP00000467123 NLRP7 1037 NACHT, LRR and PYD domains-containing protein 7; Inhibits CASP1/caspase-1-dependent IL1B secretion; Belongs to the NLRP family 9606.ENSP00000467141 TTN 35991 Titin; Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase; Fibronectin type III domain containing 9606.ENSP00000467176 TNNT1 278 Troponin T, slow skeletal muscle; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity 9606.ENSP00000467218 ZNF570 592 Zinc finger protein 570; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000467262 UQCR11 56 Cytochrome b-c1 complex subunit 10; This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain; Belongs to the UQCR11/QCR10 family 9606.ENSP00000467266 COX6B2 88 Cytochrome c oxidase subunit 6B2; Connects the two COX monomers into the physiological dimeric form; Belongs to the cytochrome c oxidase subunit 6B family 9606.ENSP00000467271 ABCA8 1621 ATP-binding cassette sub-family A member 8; ATP-dependent lipophilic drug transporter; ATP binding cassette subfamily A 9606.ENSP00000467286 ENSG00000197054 414 Zinc finger protein 763; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000467290 SEMA6B 888 Semaphorin-6B; May play a role in both peripheral and central nervous system development; Semaphorins 9606.ENSP00000467301 OR4F17 305 Olfactory receptor 4F17; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000467423 SAFB 917 Scaffold attachment factor B1; Binds to scaffold/matrix attachment region (S/MAR) DNA and forms a molecular assembly point to allow the formation of a 'transcriptosomal' complex (consisting of SR proteins and RNA polymerase II) coupling transcription and RNA processing (By similarity). Can function as an estrogen receptor corepressor and can also bind to the HSP27 promoter and decrease its transcription. When associated with RBMX, binds to and stimulates transcription from the SREBF1 promoter (By similarity). Can inhibit cell proliferation; RNA binding motif containing 9606.ENSP00000467466 RPS15 145 Ribosomal protein S15 9606.ENSP00000467494 GIPR 466 Gastric inhibitory polypeptide receptor; This is a receptor for GIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 2 family 9606.ENSP00000467556 GPATCH8 1502 G-patch domain containing 8 9606.ENSP00000467579 WBP2 261 WW domain-binding protein 2; Acts as transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation. In presence of estrogen, binds to ESR1- responsive promoters. Required for YAP1 coactivation function on PGR activity. Synergizes with WBP2 in enhancing PGR activity. Modulates expression of post-synaptic scaffolding proteins via regulation of ESR1, ESR2 and PGR (By similarity); GRAM domain containing 9606.ENSP00000467723 ZNF699 642 Zinc finger protein 699; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000467740 ANKRD62 917 Ankyrin repeat domain-containing protein 62; Ankyrin repeat domain containing 9606.ENSP00000467753 LINGO3 592 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3; Leucine rich repeat and Ig domain containing 3 9606.ENSP00000467843 BOD1L2 172 Biorientation of chromosomes in cell division protein 1-like 2; May play a role in proper chromosome biorientation through the detection or correction of syntelic attachments in mitotic spindles 9606.ENSP00000467931 ZNF461 563 Zinc finger protein 461; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000467958 ENSG00000267001 105 Uncharacterized protein 9606.ENSP00000468002 KANK2 859 KN motif and ankyrin repeat domain-containing protein 2; Involved in transcription regulation by sequestering nuclear receptor coactivators, such as NCOA1, NCOA2 and NCOA3, in the cytoplasm; the function is deregulated by phosphorylation. Involved in the negative control of vitamin D receptor signaling pathway. May be involved in the control of cytoskeleton formation by regulating actin polymerization. Involved in regulation of caspase-independent apoptosis; proposed to sequester AIFM1 in mitochondria and apoptotic stimuli lead to its proteasomal degradation allowing the release of AIF [...] 9606.ENSP00000468007 LUZP6 58 Leucine zipper protein 6 9606.ENSP00000468025 TMEM101 257 Transmembrane protein 101; May activate NF-kappa-B signaling pathways 9606.ENSP00000468032 SARM1 724 Sterile alpha and TIR motif-containing protein 1; Negative regulator of MYD88- and TRIF-dependent toll- like receptor signaling pathway which plays a pivotal role in activating axonal degeneration following injury. Promotes Wallerian degeneration an injury-induced axonal death pathway which involves degeneration of an axon distal to the injury site. Can activate neuronal death in response to stress. Regulates dendritic arborization through the MAPK4-JNK pathway. Involved in innate immune response. Inhibits both TICAM1/TRIF- and MYD88- dependent activation of JUN/AP-1, TRIF-dependent ac [...] 9606.ENSP00000468040 ENSG00000267748 153 annotation not available 9606.ENSP00000468049 ZNF101 436 Zinc finger protein 101; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000468057 HSPB6 160 Heat shock protein beta-6; Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding- competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity 9606.ENSP00000468153 ZNF559 602 Zinc finger protein 559; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000468232 CCDC159 297 Coiled-coil domain containing 159 9606.ENSP00000468236 APOC4 127 Apolipoprotein C-IV; May participate in lipoprotein metabolism; Apolipoproteins 9606.ENSP00000468263 ERC1 1116 ELKS/Rab6-interacting/CAST family member 1; Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport 9606.ENSP00000468271 ENSG00000267173 159 Uncharacterized protein 9606.ENSP00000468280 ENSG00000267318 54 Uncharacterized protein 9606.ENSP00000468304 MBTD1 628 MBT domain-containing protein 1; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). Specifically binds to monomethylated and dimethylated 'Lys-20' on histone H4; MBT domain containing 9606.ENSP00000468308 FAM20A 541 Pseudokinase FAM20A; Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals 9606.ENSP00000468312 EML2 850 Echinoderm microtubule-associated protein-like 2; Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules; WD repeat domain containing 9606.ENSP00000468348 MAP2K6 334 Dual specificity mitogen-activated protein kinase kinase 6; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. With MAP3K3/MKK3, catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinases p38 MAPK11, MAPK12, MAPK13 and MAPK14 and plays an important role in the regulation of cellular responses to cytokines and all kinds of stresses. Especially, MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK11 and MAPK13 induced by environmental stress, whereas MAP2K6/MKK6 i [...] 9606.ENSP00000468354 ANKRD29 301 Ankyrin repeat domain-containing protein 29; Ankyrin repeat domain containing 9606.ENSP00000468367 ENSG00000267261 282 Uncharacterized protein 9606.ENSP00000468411 PSENEN 101 Gamma-secretase subunit PEN-2; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity; Belongs to the PEN-2 family 9606.ENSP00000468424 NMT1 496 Glycylpeptide N-tetradecanoyltransferase 1; Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins 9606.ENSP00000468500 GFAP 438 Glial fibrillary acidic protein; GFAP, a class-III intermediate filament, is a cell- specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells 9606.ENSP00000468531 ZNF177 481 Zinc finger protein 177; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000468633 SEC11C 192 Signal peptidase complex catalytic subunit SEC11C; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum 9606.ENSP00000468678 PLEKHH3 793 Pleckstrin homology, MyTH4 and FERM domain containing H3 9606.ENSP00000468690 ENSG00000266953 209 Uncharacterized protein 9606.ENSP00000468720 ZNF253 499 Zinc finger protein 253; May function as a transcription factor. Seem to have a transcriptional repression activity; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000468767 ACP5 325 Tartrate-resistant acid phosphatase type 5; Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias; Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family 9606.ENSP00000468782 ZBTB7C 619 Zinc finger and BTB domain-containing protein 7C; May be a tumor suppressor gene; BTB domain containing 9606.ENSP00000468785 MBD1 655 Methyl-CpG-binding domain protein 1; Transcriptional repressor that binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides. Binding is abolished by the presence of 7-mG that is produced by DNA damage by methylmethanesulfonate (MMS). Acts as transcriptional repressor and plays a role in gene silencing by recruiting AFT7IP, which in turn recruits factors such as the histone methyltransferase SETDB1. Probably forms a complex with SETDB1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylat [...] 9606.ENSP00000468837 ENSG00000268434 132 Uncharacterized protein 9606.ENSP00000468897 FPR2 351 N-formyl peptide receptor 2; Low affinity receptor for N-formyl-methionyl peptides, which are powerful neutrophils chemotactic factors. Binding of FMLP to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The activation of LXA4R could result in an anti-inflammatory outcome counteracting the actions of proinflammatory signals such as LTB4 (leukotriene B4) 9606.ENSP00000468927 STAP2 449 Signal transducing adaptor family member 2 9606.ENSP00000468956 JOSD2 188 Josephin-2; Cleaves 'Lys-63'-linked poly-ubiquitin chains, and with lesser efficiency 'Lys-48'-linked poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme; MJD deubiquinating enzymes 9606.ENSP00000468969 WDR83OS 106 Protein Asterix; WD repeat domain 83 opposite strand 9606.ENSP00000468980 SLC25A53 307 Solute carrier family 25 member 53 9606.ENSP00000468984 ZIM2 527 Zinc finger imprinted 2; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000468991 MTRNR2L12 24 Humanin-like 8; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000469011 SSX4 188 Synovial sarcoma, X breakpoint 4; Could act as a modulator of transcription 9606.ENSP00000469029 ZNF574 896 Zinc finger protein 574; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000469049 TNFSF14 240 Tumor necrosis factor ligand superfamily member 14; Cytokine that binds to TNFRSF3/LTBR. Binding to the decoy receptor TNFRSF6B modulates its effects. Activates NFKB, stimulates the proliferation of T-cells, and inhibits growth of the adenocarcinoma HT-29. Acts as a receptor for Herpes simplex virus; CD molecules 9606.ENSP00000469089 ZBTB45 511 Zinc finger and BTB domain-containing protein 45; May be involved in transcriptional regulation (Probable). In the central nervous system, may play a role in glial cell differentiation (By similarity); BTB domain containing 9606.ENSP00000469142 NPAS1 590 Neuronal PAS domain-containing protein 1; May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000469205 SLITRK4 837 SLIT and NTRK-like protein 4; It is involved in synaptogenesis and promotes synapse differentiation. Suppresses neurite outgrowth (By similarity); Belongs to the SLITRK family 9606.ENSP00000469223 HSFX2 423 Heat shock transcription factor family, X-linked 2 9606.ENSP00000469240 CHMP2A 222 Charged multivesicular body protein 2a; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential functio [...] 9606.ENSP00000469248 FAM156B 213 Family with sequence similarity 156 member B 9606.ENSP00000469315 KLK15 256 Kallikrein-15; Protease whose physiological substrate is not yet known; Kallikreins 9606.ENSP00000469332 GABRQ 632 Gamma-aminobutyric acid receptor subunit theta; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000469337 LRRC63 587 Leucine-rich repeat-containing protein 63; Leucine rich repeat containing 63 9606.ENSP00000469391 ZNF677 584 Zinc finger protein 677; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000469394 SSX4B 188 Protein SSX4; Could act as a modulator of transcription 9606.ENSP00000469413 PAK4 591 Serine/threonine-protein kinase PAK 4; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, growth, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates and inactivates the protein phosphatase SSH1, leading to increased inhibitory phosphorylation of the actin binding/depolymerizing factor cofilin [...] 9606.ENSP00000469417 KLK9 250 Kallikrein-9; Kallikrein related peptidase 9; Kallikreins 9606.ENSP00000469421 ENSG00000267881 152 Carcinoembryonic antigen-related cell adhesion molecule 5 isoform 3D 9606.ENSP00000469441 CTAG1A 180 Cancer/testis antigen 1A; Belongs to the CTAG/PCC1 family 9606.ENSP00000469445 PNMA3 463 Paraneoplastic Ma antigens; Belongs to the PNMA family 9606.ENSP00000469455 NTF4 210 Neurotrophin-4; Target-derived survival factor for peripheral sensory sympathetic neurons; Neurotrophins 9606.ENSP00000469468 LSM4 139 U6 snRNA-associated Sm-like protein LSm4; Binds specifically to the 3'-terminal U-tract of U6 snRNA; Belongs to the snRNP Sm proteins family 9606.ENSP00000469474 CCDC177 707 Coiled-coil domain containing 177 9606.ENSP00000469582 ZNF729 1252 Zinc finger protein 729; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000469588 ENSG00000267952 47 Uncharacterized protein 9606.ENSP00000469591 ZNF628 1059 Zinc finger protein 628; Transcription activator. Binds DNA on GT-box consensus sequence 5'-TTGGTT-3' (By similarity); Zinc fingers C2H2-type 9606.ENSP00000469613 FLT3LG 235 Fms-related tyrosine kinase 3 ligand; Stimulates the proliferation of early hematopoietic cells by activating FLT3. Synergizes well with a number of other colony stimulating factors and interleukins; Endogenous ligands 9606.ENSP00000469647 ZFP36 332 mRNA decay activator protein ZFP36; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as an 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery. Recruits deadenylase CNOT7 (and probably the CCR4-NOT complex) via association with CNOT1, and hence promotes ARE-mediated mRNA deadenylation. Functions also by recruiting compone [...] 9606.ENSP00000469686 EGLN2 407 Egl nine homolog 2; Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is [...] 9606.ENSP00000469689 SHANK2 1849 SH3 and multiple ankyrin repeat domains protein 2; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction; Belongs to the SHANK family 9606.ENSP00000469705 ENSG00000268187 156 annotation not available 9606.ENSP00000469759 LRIT3 679 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3; Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi. Could be a regulator of the FGFRs; I-set domain containing 9606.ENSP00000469811 ENSG00000269711 137 annotation not available 9606.ENSP00000469836 MPV17L2 206 Mpv17-like protein 2; Required for the assembly and stability of the mitochondrial ribosome. Is a positive regulator of mitochondrial protein synthesis; Belongs to the peroxisomal membrane protein PXMP2/4 family 9606.ENSP00000469863 DYRK1B 629 Dual specificity tyrosine-phosphorylation-regulated kinase 1B; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments. Inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis. In addition, promotes expression of the gluconeogenic enzyme glucose-6-phosphatase (G6PC); Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily 9606.ENSP00000469876 SCGB2B2 96 Secretoglobin family 2B member 2; Secretoglobins 9606.ENSP00000469880 VRK3 474 Inactive serine/threonine-protein kinase VRK3; Inactive kinase that suppresses ERK activity by promoting phosphatase activity of DUSP3 which specifically dephosphorylates and inactivates ERK in the nucleus 9606.ENSP00000469888 TRAPPC2P1 140 Trafficking protein particle complex 2 pseudogene 1 9606.ENSP00000469958 ZNF626 528 Zinc finger protein 626; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000469970 ENSG00000166160 364 Opsin 1 (cone pigments), medium-wave-sensitive; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal 9606.ENSP00000469981 TAZ 292 Tafazzin; Some isoforms may be involved in cardiolipin (CL) metabolism; Belongs to the taffazin family 9606.ENSP00000469998 ZNF114 417 Zinc finger protein 114; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000470034 NOSIP 301 Nitric oxide synthase-interacting protein; E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity; Belongs to the NOSIP family 9606.ENSP00000470059 ENSG00000268083 321 Uncharacterized protein; Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial 9606.ENSP00000470082 DEDD2 326 DNA-binding death effector domain-containing protein 2; May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3; Death effector domain containing 9606.ENSP00000470086 ENSG00000268790 62 Small integral membrane protein 7; Uncharacterized protein 9606.ENSP00000470087 ENSG00000268643 167 Uncharacterized protein; Belongs to the protein kinase superfamily 9606.ENSP00000470123 ZSCAN18 566 Zinc finger and SCAN domain-containing protein 18; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000470142 UPF1 1129 Regulator of nonsense transcripts 1; RNA-dependent helicase and ATPase required for nonsense- mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD. Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1- eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more [...] 9606.ENSP00000470152 DTNA 724 Dystrobrevin alpha; May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors; Belongs to the dystrophin family. Dystrobrevin subfamily 9606.ENSP00000470185 CT45A1 189 Cancer/testis antigen family 45 member A1; Belongs to the CT45 family 9606.ENSP00000470209 ZNF257 563 Zinc finger protein 257; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000470239 ZNF836 936 Zinc finger protein 836; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000470248 PRICKLE3 615 Prickle planar cell polarity protein 3; Involved in the planar cell polarity (PCP) pathway that is essential for the polarization of epithelial cells during morphogenetic processes, including gastrulation and neurulation (By similarity). PCP is maintained by two molecular modules, the global and the core modules, PRICKLE3 being part of the core module (By similarity). Distinct complexes of the core module segregate to opposite sides of the cell, where they interact with the opposite complex in the neighboring cell at or near the adherents junctions (By similarity). Involved in the orga [...] 9606.ENSP00000470252 SUPT5H 1087 Transcription elongation factor SPT5; Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote paus [...] 9606.ENSP00000470259 CD33L2 551 Sialic acid-binding Ig-like lectin 5; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Binds equally to alpha-2,3-linked and alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface; CD molecules 9606.ENSP00000470262 TRAPPC5 188 Trafficking protein particle complex subunit 5; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Belongs to the TRAPP small subunits family. BET3 subfamily 9606.ENSP00000470298 MYH14 2036 Myosin-14; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping; Deafness associated genes 9606.ENSP00000470323 ZNF329 541 Zinc finger protein 329; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000470381 ZNF468 522 Zinc finger protein 468; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000470383 ENSG00000268465 97 Cytohesin-2 9606.ENSP00000470389 ENSG00000268714 81 annotation not available 9606.ENSP00000470441 LOC646862 329 RING finger protein 225; Uncharacterized protein LOC646862 9606.ENSP00000470478 LOC388210 3231 Putative uncharacterized protein LOC400499; Protein LOC101929274 9606.ENSP00000470488 ZNF432 652 Zinc finger protein 432; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000470498 FBN3 2809 Fibrillin-3; Fibrillin-3: Fibrillins are structural components of 10- 12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support; Belongs to the fibrillin family 9606.ENSP00000470539 PET100 73 Protein PET100 homolog, mitochondrial; PET100 homolog; Belongs to the PET100 family 9606.ENSP00000470555 KLK13 277 Kallikrein-13; Kallikrein related peptidase 13; Kallikreins 9606.ENSP00000470560 EMG1 244 Ribosomal RNA small subunit methyltransferase NEP1; S-adenosyl-L-methionine-dependent pseudouridine N(1)- methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position. Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-riboso [...] 9606.ENSP00000470584 SPANXN2 180 Sperm protein associated with the nucleus on the X chromosome N2; SPANX family member N2 9606.ENSP00000470652 SLC35E1 410 Solute carrier family 35 member E1; Putative transporter; Solute carriers 9606.ENSP00000470691 ZSCAN5DP 497 Zinc finger and SCAN domain containing 5D pseudogene 9606.ENSP00000470746 ZNF841 924 Zinc finger protein 841; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000470788 IL12RB1 662 Interleukin-12 receptor subunit beta-1; Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade; CD molecules 9606.ENSP00000470801 SLC6A14 642 Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+); Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner; Solute carriers 9606.ENSP00000470813 CGB7 165 Choriogonadotropin subunit beta 7; Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role for pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy 9606.ENSP00000470879 TMEM59L 342 Transmembrane protein 59-like; Modulates the O-glycosylation and complex N- glycosylation steps occurring during the Golgi maturation of APP. Inhibits APP transport to the cell surface and further shedding 9606.ENSP00000470910 FAM231C 169 Protein FAM231B; Family with sequence similarity 231 member C; Belongs to the FAM231 family 9606.ENSP00000470969 ENSG00000268163 132 Uncharacterized protein 9606.ENSP00000470972 RPS19 145 40S ribosomal protein S19; Required for pre-rRNA processing and maturation of 40S ribosomal subunits; Belongs to the eukaryotic ribosomal protein eS19 family 9606.ENSP00000471000 ZNF616 781 Zinc finger protein 616; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000471017 MAGEA9 315 Melanoma-associated antigen 9; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression; MAGE family 9606.ENSP00000471077 ENSG00000268750 166 Uncharacterized protein 9606.ENSP00000471126 SMIM17 118 Small integral membrane protein 17 9606.ENSP00000471191 NUP62 522 Nuclear pore glycoprotein p62; Essential component of the nuclear pore complex. The N-terminal is probably involved in nucleocytoplasmic transport. The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex. Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation. It might be involved in protein recruitment to the centrosome after nuclear breakdown; Nucleoporins 9606.ENSP00000471224 DMRTC1 192 Doublesex- and mab-3-related transcription factor C1; DMRT like family C1; Belongs to the DMRT family 9606.ENSP00000471242 FARP1 1076 FERM, ARHGEF and pleckstrin domain-containing protein 1; Functions as guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultimately the formation of synapses (By similarity); FERM domain containing 9606.ENSP00000471252 ANKRD24 1146 Ankyrin repeat domain-containing protein 24; Ankyrin repeat domain containing 9606.ENSP00000471272 FAM71E1 231 Protein FAM71E1; Family with sequence similarity 71 member E1 9606.ENSP00000471277 ZNF558 402 Zinc finger protein 558; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000471299 MAGIX 334 PDZ domain-containing protein MAGIX; MAGI family member, X-linked; PDZ domain containing 9606.ENSP00000471331 ENSG00000269881 531 cDNA FLJ60496; Protein ITFG3; Uncharacterized protein; cDNA FLJ60496 9606.ENSP00000471417 ANKDD1B 528 Ankyrin repeat and death domain containing 1B 9606.ENSP00000471418 ENSG00000269096 189 Cancer/testis antigen family 45 member A3; Belongs to the CT45 family 9606.ENSP00000471454 CCDC61 512 Coiled-coil domain containing 61 9606.ENSP00000471455 CCDC124 223 Coiled-coil domain-containing protein 124; Required for proper progression of late cytokinetic stages; Belongs to the CCDC124 family 9606.ENSP00000471457 MYO9B 2022 Unconventional myosin-IXb; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions. Also acts as a GTPase activator for RHOA. Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereb [...] 9606.ENSP00000471463 C19orf48 117 Uncharacterized protein C19orf48; Chromosome 19 open reading frame 48; Minor histocompatibility antigens 9606.ENSP00000471477 FGF21 209 Fibroblast growth factor 21; Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB; Belongs to the heparin-binding growth factors family 9606.ENSP00000471493 FPR1 350 fMet-Leu-Phe receptor; High affinity receptor for N-formyl-methionyl peptides (fMLP), which are powerful neutrophil chemotactic factors. Binding of fMLP to the receptor stimulates intracellular calcium mobilization and superoxide anion release. This response is mediated via a G-protein that activates a phosphatidylinositol- calcium second messenger system 9606.ENSP00000471502 LRRC4B 713 Leucine-rich repeat-containing protein 4B; Synaptic adhesion protein. Regulates the formation of excitatory synapses. The trans-synaptic adhesion between LRRC4B and PTPRF regulates the formation of excitatory synapses in a bidirectional manner (By similarity); Endogenous ligands 9606.ENSP00000471516 ZNF726 616 Zinc finger protein 726; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000471536 MARCH2 246 E3 ubiquitin-protein ligase MARCH2; E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6; Membrane associated ring-CH-type fingers 9606.ENSP00000471549 ZNF615 742 Zinc finger protein 615; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000471575 MBD3L1 194 Methyl-CpG-binding domain protein 3-like 1; Transcriptional repressor 9606.ENSP00000471593 ZNF728 622 Zinc finger protein 728; Zinc fingers C2H2-type 9606.ENSP00000471604 TEX13A 409 Testis-expressed protein 13A; Zinc fingers RANBP2-type ; Belongs to the TEX13 family 9606.ENSP00000471613 ENSG00000268870 149 Uncharacterized protein 9606.ENSP00000471635 ENSG00000268861 1114 Uncharacterized protein; Rho guanine nucleotide exchange factor 18 9606.ENSP00000471646 SCGB1C2 95 Secretoglobin, family 1C, member 1-like precursor 9606.ENSP00000471683 SLC38A5 472 Sodium-coupled neutral amino acid transporter 5; Functions as a sodium-dependent amino acid transporter which countertransport protons. Mediates the saturable, pH- sensitive, and electrogenic cotransport of several neutral amino acids including glycine, asparagine, alanine, serine, glutamine and histidine with sodium 9606.ENSP00000471730 PPP5D1 125 Protein PPP5D1; PPP5 tetratricopeptide repeat domain containing 1 9606.ENSP00000471735 MPND 501 MPN domain-containing protein; Probable protease 9606.ENSP00000471754 ZNF480 535 Zinc finger protein 480; Involved in transcriptional regulation as an activator; Zinc fingers C2H2-type 9606.ENSP00000471894 HAMP 84 Hepcidin; Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma. Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes; Belongs to the hepcidin family 9606.ENSP00000471896 IRF3 452 Interferon regulatory factor 3; Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Acts as a more potent activator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA) gene and plays a critical role in both the early and late phases of the IFNA/B gene induction. Found in an inactive [...] 9606.ENSP00000471905 ZNF17 662 Zinc finger protein 17; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000471921 SPIB 262 Transcription factor Spi-B; Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dendritic cells (pDCs), also known as type 2 DC precursors (pre-DC2) or natural interferon (IFN)-producing cells. These cells have the capacity to produce large amounts of interferon and block viral replication. May be required for B-cell receptor (BCR) signaling, which is necessary for normal B-cell development and antigenic stimulation; ETS transcription factor family 9606.ENSP00000471932 TMEM185A 350 Transmembrane protein 185A; Belongs to the TMEM185 family 9606.ENSP00000471984 C5orf58 102 Putative uncharacterized protein C5orf58; Chromosome 5 open reading frame 58 9606.ENSP00000472109 TEAD2 451 Transcriptional enhancer factor TEF-4; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] 9606.ENSP00000472118 MAGED4 757 Melanoma-associated antigen D4; May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex; MAGE family 9606.ENSP00000472152 ENSG00000268533 72 annotation not available 9606.ENSP00000472160 ENSG00000269026 148 Uncharacterized protein 9606.ENSP00000472249 GMFG 142 Glia maturation factor gamma 9606.ENSP00000472277 ENSG00000269533 179 Uncharacterized protein 9606.ENSP00000472286 SUGP2 1082 SURP and G-patch domain-containing protein 2; May play a role in mRNA splicing; G-patch domain containing 9606.ENSP00000472305 ZNF358 568 Zinc finger protein 358; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000472308 TEX101 267 Testis-expressed protein 101; Plays a role in fertilization by controlling binding of sperm to zona pellucida and migration of spermatozoa into the oviduct (By similarity). May play a role in signal transduction and promote protein tyrosine phosphorylation (By similarity); LY6/PLAUR domain containing 9606.ENSP00000472316 ENSG00000268221 364 Medium-wave-sensitive opsin 2; Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal 9606.ENSP00000472409 ARL14EPL 152 ARL14 effector protein-like; ADP ribosylation factor like GTPase 14 effector protein like 9606.ENSP00000472415 ENSG00000269035 226 Uncharacterized protein 9606.ENSP00000472465 ENSG00000269547 588 Uncharacterized protein; Serine--tRNA ligase, mitochondrial 9606.ENSP00000472467 CXCL17 119 C-X-C motif chemokine 17; Chemokine that acts as chemoattractant for monocytes, macrophages and dendritic cells. Plays a role in angiogenesis and possibly in the development of tumors. Acts as an anti-inflammatory in the stomach. May play a role in the innate defense against infections. Activates the C-X-C chemokine receptor GPR35 to induce a rapid and transient rise in the level of intracellular calcium ions 9606.ENSP00000472469 RPS28 69 Ribosomal protein S28; Belongs to the eukaryotic ribosomal protein eS28 family 9606.ENSP00000472474 IL4I1 589 L-amino-acid oxidase; Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity); Belongs to the flavin monoamine oxidase family. FIG1 subfamily 9606.ENSP00000472546 PLA2G4C 551 Cytosolic phospholipase A2 gamma; Has a preference for arachidonic acid at the sn-2 position of phosphatidylcholine as compared with palmitic acid; Phospholipases 9606.ENSP00000472619 ZNF83 516 Zinc finger protein 83; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000472620 C5AR2 337 C5a anaphylatoxin chemotactic receptor 2; Receptor for the chemotactic and inflammatory C3a, C4a and C5a anaphylatoxin peptides and also for their dearginated forms ASP/C3adesArg, C4adesArg and C5adesArg respectively. Couples weakly to G(i)-mediated signaling pathways; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000472681 ASCL5 206 Achaete-scute homolog 5; Achaete-scute family bHLH transcription factor 5; Basic helix-loop-helix proteins 9606.ENSP00000472698 ENSG00000268361 131 annotation not available 9606.ENSP00000472710 ENSG00000269590 195 Uncharacterized protein 9606.ENSP00000472749 TMSL8 45 Thymosin beta-15A; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity); Belongs to the thymosin beta family 9606.ENSP00000472802 ZNF446 450 Zinc finger protein 446; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000472808 ZNF473 871 Zinc finger protein 473; Involved in histone 3'-end pre-mRNA processing by associating with U7 snRNP and interacting with SLBP/pre-mRNA complex. Increases histone 3'-end pre-mRNA processing but has no effect on U7 snRNP levels, when overexpressed. Required for cell cycle progression from G1 to S phases; Zinc fingers C2H2-type 9606.ENSP00000472836 KXD1 176 KxDL motif-containing protein 1; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. May be involved in the biogenesis of lysosome-related organelles such as melanosomes (By similarity); Belongs to the KXD1 family 9606.ENSP00000472847 SARS2 520 Serine--tRNA ligase, mitochondrial; Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec); Aminoacyl tRNA synthetases, Class II 9606.ENSP00000472867 ZIK1 487 Zinc finger protein interacting with ribonucleoprotein K; May be a transcriptional repressor; Zinc fingers C2H2-type 9606.ENSP00000472894 ENSG00000268133 102 Uncharacterized protein 9606.ENSP00000472919 ERVV-2 535 Endogenous retrovirus group V member 2, envelope; Belongs to the gamma type-C retroviral envelope protein family 9606.ENSP00000472929 VAV1 845 Proto-oncogene vav; Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation; Pleckstrin homology domain containing 9606.ENSP00000472959 ZNF730 503 Putative zinc finger protein 730; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000472969 ZNF99 864 Zinc finger protein 99; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000472985 RPS5 204 Ribosomal protein S5; Belongs to the universal ribosomal protein uS7 family 9606.ENSP00000472998 SNRNP70 437 U1 small nuclear ribonucleoprotein 70 kDa; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRNP70 binds to the loop I region of U1-snRNA. The truncated isoforms cannot bind U1-snRNA; RNA binding motif containing 9606.ENSP00000473001 FCHO1 891 F-BAR domain only protein 1; Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors; F-BAR domain containing 9606.ENSP00000473036 PNMAL2 635 Paraneoplastic antigen-like protein 8B; Paraneoplastic Ma antigen family-like 2 9606.ENSP00000473047 KLK11 282 Kallikrein-11; Possible multifunctional protease. Efficiently cleaves 'bz-Phe-Arg-4-methylcoumaryl-7-amide', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Cleaves synthetic peptides after arginine but not lysine residues; Belongs to the peptidase S1 family. Kallikrein subfamily 9606.ENSP00000473056 ENSG00000269095 46 Uncharacterized protein 9606.ENSP00000473091 ZNF320 509 Zinc finger protein 320; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000473093 MAGEA3 314 Melanoma-associated antigen 3; Proposed to enhance ubiquitin ligase activity of RING- type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal development and tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes; MA [...] 9606.ENSP00000473153 ERVV-1 477 Endogenous retrovirus group V member 1, envelope; Belongs to the gamma type-C retroviral envelope protein family 9606.ENSP00000473159 FFAR2 330 Free fatty acid receptor 2; G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha fa [...] 9606.ENSP00000473163 FAM231B 169 Family with sequence similarity 231, member B; Belongs to the FAM231 family 9606.ENSP00000473172 RUVBL2 463 RuvB-like 2; Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes; Belongs to the RuvB family 9606.ENSP00000473185 SEPW1 87 Selenoprotein W; Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity); Belongs to the SelWTH family. Selenoprotein W subfamily 9606.ENSP00000473200 ENSG00000239665 203 Protein LOC101928524 9606.ENSP00000473212 GPR42 346 G-protein coupled receptor 42; Probable G protein-coupled receptor that may be activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that may play a role in the regulation of whole-body energy homeostasis and/or in intestinal immunity 9606.ENSP00000473233 ENSG00000142539 397 annotation not available 9606.ENSP00000473290 NELFCD 599 Negative elongation factor C/D; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II. Binds RNA which may help to stabilize the NELF complex on nucleic acid. In vitro, the NELFA:NELFCD subcomplex binds to ssDNA and ssRNA in a sequence- and structur [...] 9606.ENSP00000473348 H6PD 802 GDH/6PGL endoplasmic bifunctional protein; Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates; In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6- phosphogluconolactonase subfamily 9606.ENSP00000473370 MEI4 385 Meiosis-specific protein MEI4; Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis 9606.ENSP00000473381 OAZ1 228 Ornithine decarboxylase antizyme 1; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin-independent proteolytic destruction by the 26S proteasome. Triggers ODC degradation by inducing the exposure of a cryptic proteasome-interacting surface of ODC. Stabilizes AZIN2 by interfering with its ubiquitination. Also inhibits cellular u [...] 9606.ENSP00000473383 FBLL1 334 rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1; S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Also acts as a protein methyltransferase by mediating methylation of glutamine residues (By similarity); Seven-beta-strand methyltransferase motif containing 9606.ENSP00000473384 BIVM-ERCC5 1385 BIVM-ERCC5 readthrough 9606.ENSP00000473391 ENSG00000269897 469 Polycomb complex protein BMI-1; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A. In the PRC1-like complex, regulates the E3 u [...] 9606.ENSP00000473411 ENSG00000270136 181 Neuroblastoma suppressor of tumorigenicity 1; MINOS1-NBL1 readthrough 9606.ENSP00000473444 HIATL2 150 Hippocampus abundant transcript-like 2 9606.ENSP00000473474 SDR42E2 422 Short chain dehydrogenase/reductase family 42E, member 2; Belongs to the 3-beta-HSD family 9606.ENSP00000473493 MAGEB5 275 Melanoma-associated antigen B5; MAGE family member B5 9606.ENSP00000473553 CSNK2A3 391 Casein kinase II subunit alpha 3; Probable catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Amplification-dependent oncogene; promotes cell proliferation and tumorigenesis by down- regulating expression of the tumor suppressor protein, PML. May play a role in the pathogenesis of the lung cancer development and progression 9606.ENSP00000473565 DENND4C 1909 DENN domain-containing protein 4C; Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin; DENN/MADD domain containing 9606.ENSP00000473631 DNAJC3 504 DnaJ homolog subfamily C member 3; Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at 'Ser-52' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2 [...] 9606.ENSP00000473658 ENSG00000269948 441 Protein CC2D2B 9606.ENSP00000473686 MTRNR2L6 24 Humanin-like 6; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000473842 EBLN1 366 Endogenous Bornavirus-like nucleoprotein 1; May act as an RNA-binding protein. Highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes (By similarity) 9606.ENSP00000473853 MMP28 520 Matrix metalloproteinase-28; Can degrade casein. Could play a role in tissues homeostasis and repair; Belongs to the peptidase M10A family 9606.ENSP00000473871 ENSG00000270617 110 URGCP-MRPS24 readthrough 9606.ENSP00000473929 FXYD3 144 FXYD domain-containing ion transport regulator 3; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes 9606.ENSP00000473941 HEATR9 570 Protein HEATR9; Armadillo-like helical domain containing 9606.ENSP00000473983 TMEM120A 343 Transmembrane protein 120A; Necessary for efficient adipogenesis; Belongs to the TMEM120 family 9606.ENSP00000473990 ALDH3B1 468 Aldehyde dehydrogenase family 3 member B1; Oxidizes medium and long chain saturated and unsaturated aldehydes. Metabolizes also benzaldehyde. Low activity towards acetaldehyde and 3,4-dihydroxyphenylacetaldehyde. May not metabolize short chain aldehydes. May use both NADP(+) and NAD(+) as cofactors. May have a protective role against the cytotoxicity induced by lipid peroxidation 9606.ENSP00000474003 TRIM77 450 Tripartite motif containing 77; Belongs to the TRIM/RBCC family 9606.ENSP00000474032 DYNC2LI1 352 Cytoplasmic dynein 2 light intermediate chain 1; Required for correct intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Involved in the regulation of ciliary length; Dyneins, cytoplasmic 9606.ENSP00000474071 CCDC120 696 Coiled-coil domain-containing protein 120; Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells. Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly. Recruits NIN and CEP170 to centrosomes. Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth 9606.ENSP00000474090 UPP2 374 Uridine phosphorylase 2; Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1- phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5-fluoro-2(')-deoxyuridine as substrates 9606.ENSP00000474096 TAF15 592 TATA-binding protein-associated factor 2N; RNA and ssDNA-binding protein that may play specific roles during transcription initiation at distinct promoters. Can enter the preinitiation complex together with the RNA polymerase II (Pol II) 9606.ENSP00000474135 ENSG00000259680 116 Uncharacterized protein 9606.ENSP00000474182 LEKR1 132 Leucine-, glutamate- and lysine-rich protein 1; Leucine, glutamate and lysine rich 1 9606.ENSP00000474204 CTAGE15 777 CTAGE family member 15 9606.ENSP00000474230 RASL10B 203 Ras-like protein family member 10B; May facilitate the release of atrial natriuretic peptide by cardiomyocytes and hence play a role in the regulation of arterial pressure; Belongs to the small GTPase superfamily. Ras family 9606.ENSP00000474246 IZUMO3 233 Izumo sperm-egg fusion protein 3; IZUMO family member 3 9606.ENSP00000474279 ENSG00000270299 94 Uncharacterized protein 9606.ENSP00000474385 ADAM21 722 Disintegrin and metalloproteinase domain-containing protein 21; May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients; ADAM metallopeptidase domain containing 9606.ENSP00000474388 CTAGE6 777 CTAGE family member 6 9606.ENSP00000474412 CCL5 91 C-C motif chemokine 5; Chemoattractant for blood monocytes, memory T-helper cells and eosinophils. Causes the release of histamine from basophils and activates eosinophils. May activate several chemokine receptors including CCR1, CCR3, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant RANTES protein induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form RANTES(3-68) acts as a natural chemotaxis inhibitor and is a more potent inhibitor of HIV-1- infection. The secon [...] 9606.ENSP00000474456 NBPF1 1139 Neuroblastoma breakpoint family member 1; NBPF member 1 9606.ENSP00000474487 LIX1L 337 LIX1-like protein; Limb and CNS expressed 1 like; Belongs to the LIX1 family 9606.ENSP00000474529 GAS2L2 880 GAS2-like protein 2; Seems to be involved in the cross-linking of microtubules and microfilaments 9606.ENSP00000474534 HSPE1-MOB4 261 HSPE1-MOB4 readthrough; Belongs to the GroES chaperonin family 9606.ENSP00000474560 HADH 331 Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; Plays an essential role in the mitochondrial beta- oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA; Belongs to the 3-hydroxyacyl-CoA dehydrogenase family 9606.ENSP00000474570 MTRNR2L13 24 Humanin-like 13; Plays a role as a neuroprotective and antiapoptotic factor 9606.ENSP00000474632 ENSG00000271449 189 Cancer/testis antigen family 45 member A2 9606.ENSP00000474720 ARMCX5 558 Armadillo repeat containing, X-linked 5 9606.ENSP00000474823 ENSG00000249884 251 Charged multivesicular body protein 3; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function [...] 9606.ENSP00000474840 MTRNR2L9 24 Humanin-like 9; Plays a role as a neuroprotective and antiapoptotic factor; Belongs to the humanin family 9606.ENSP00000474850 TRIM49D1 452 Tripartite motif containing 49D1; Belongs to the TRIM/RBCC family 9606.ENSP00000474861 MTRNR2L11 24 Humanin-like 11; Plays a role as a neuroprotective and antiapoptotic factor 9606.ENSP00000474988 TPBGL 382 Trophoblast glycoprotein like 9606.ENSP00000475001 TLX1NB 122 TLX1 neighbor 9606.ENSP00000475025 ENSG00000271092 201 TMEM56-RWDD3 readthrough 9606.ENSP00000475027 ENSG00000270800 286 RPS10-NUDT3 readthrough 9606.ENSP00000475028 UGT2A2 536 UDP glucuronosyltransferase 2 family, polypeptide A2; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. Active on odorants and seems to be involved in olfaction; it could help clear lipophilic odorant molecules from the sensory epithelium 9606.ENSP00000475068 SMAGP 97 Small cell adhesion glycoprotein; May play a role in epithelial cell-cell contacts. May play a role in tumor invasiveness and metastasis formation 9606.ENSP00000475084 DUOX2 1548 Dual oxidase 2; Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like domain 9606.ENSP00000475146 C17orf50 174 Uncharacterized protein C17orf50; Chromosome 17 open reading frame 50 9606.ENSP00000475168 RER1 196 Protein RER1; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment 9606.ENSP00000475189 ANKRD34A 496 Ankyrin repeat domain-containing protein 34A; Ankyrin repeat domain containing; Belongs to the ANKRD34 family 9606.ENSP00000475216 KPRP 579 Keratinocyte proline rich protein 9606.ENSP00000475227 FAM231D 169 Protein FAM231D; Family with sequence similarity 231 member D; Belongs to the FAM231 family 9606.ENSP00000475261 A3GALT2 340 Alpha-1,3-galactosyltransferase 2; Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can also catalyze the addition of galactose to iGb3 itself to form polygalactose structures; Belongs to the glycosyltransferase 6 family 9606.ENSP00000475270 LCE1C 118 Late cornified envelope protein 1C; Precursors of the cornified envelope of the stratum corneum 9606.ENSP00000475344 APLNR 380 Apelin receptor; Receptor for apelin receptor early endogenous ligand (APELA) and apelin (APLN) hormones coupled to G proteins that inhibit adenylate cyclase activity. Plays a key role in early development such as gastrulation and heart morphogenesis by acting as a receptor for APELA hormone (By similarity). Plays also a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility, and heart failure by acting as a receptor for APLN hormone; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000475384 ENSG00000275740 1027 RNA-binding protein 27 9606.ENSP00000475473 CHURC1 140 Protein Churchill; Transcriptional activator that mediates FGF signaling during neural development. Plays a role in the regulation of cell movement (By similarity). Does not bind DNA by itself 9606.ENSP00000475489 MPHOSPH9 1183 M-phase phosphoprotein 9 9606.ENSP00000475521 OR2T7 308 Olfactory receptor 2T7; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000475594 ENSG00000242631 87 Zinc finger protein 462 9606.ENSP00000475615 CWC15 229 Spliceosome-associated protein CWC15 homolog; Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing 9606.ENSP00000475641 ENSG00000258881 197 Uncharacterized protein 9606.ENSP00000475686 ENSG00000259316 404 Casein kinase I isoform gamma-1 9606.ENSP00000475700 TM2D1 207 TM2 domain-containing protein 1; May participate in amyloid-beta-induced apoptosis via its interaction with beta-APP42 9606.ENSP00000475702 ENSG00000204422 63 Lymphocyte antigen 6 family member G6E 9606.ENSP00000475727 TBC1D7 293 TBC1 domain family member 7; Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is un [...] 9606.ENSP00000475750 HEBP2 205 Heme-binding protein 2; Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions 9606.ENSP00000475814 HIST2H2AA3 130 Histone H2A type 2-A; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000475845 CDC42SE1 79 CDC42 small effector protein 1; Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages; Belongs to the CDC42SE/SPEC family 9606.ENSP00000475915 CNKSR3 555 Connector enhancer of kinase suppressor of ras 3; Involved in transepithelial sodium transport. Regulates aldosterone-induced and epithelial sodium channel (ENaC)-mediated sodium transport through regulation of ENaC cell surface expression. Acts as a scaffold protein coordinating the assembly of an ENaC-regulatory complex (ERC); PDZ domain containing 9606.ENSP00000475924 POLDIP2 368 DNA polymerase delta interacting protein 2 9606.ENSP00000475939 DNAH11 4516 Dynein heavy chain 11, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP; Dyneins, axonemal 9606.ENSP00000475957 ENSG00000256100 164 Uncharacterized protein 9606.ENSP00000476046 DCP1A 544 mRNA-decapping enzyme 1A; Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Removes the 7- methyl guanine cap structure from mRNA molecules, yielding a 5'- phosphorylated mRNA fragment and 7m-GDP. Contributes to the transactivation of target genes after stimulation by TGFB1; Belongs to the DCP1 family 9606.ENSP00000476100 GTF2H5 71 General transcription factor IIH subunit 5; Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell; General transcription factors 9606.ENSP00000476117 WDR18 432 WD repeat-containing protein 18; Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes. Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit; Belongs to the WD repeat IPI3/WDR18 family 9606.ENSP00000476119 NUDT3 172 Diphosphoinositol polyphosphate phosphohydrolase 1; Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. InsP6 (inositol hexakisphophate) is not a substrate. Acts as a negative regulator of the ERK1/2 pathway. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to [...] 9606.ENSP00000476136 HIST1H2BJ 126 Histone H2B type 1-J; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000476140 UQCC2 126 Ubiquinol-cytochrome-c reductase complex assembly factor 2; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability 9606.ENSP00000476141 MT1HL1 61 Metallothionein 1H-like protein 1; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids 9606.ENSP00000476145 FRK 505 Tyrosine-protein kinase FRK; Non-receptor tyrosine-protein kinase that negatively regulates cell proliferation. Positively regulates PTEN protein stability through phosphorylation of PTEN on 'Tyr-336', which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. May function as a tumor suppressor; SH2 domain containing 9606.ENSP00000476176 SLC37A4 451 Glucose-6-phosphate exchanger SLC37A4; Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6- phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction. Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels; Belongs to the major facilitator superfamily. Organophosphate:Pi antiporter (OPA) (TC 2.A.1.4) family 9606.ENSP00000476221 ENSG00000271786 91 Uncharacterized protein 9606.ENSP00000476225 ENSG00000272104 50 Uncharacterized protein 9606.ENSP00000476228 SIRT5 310 NAD-dependent protein deacylase sirtuin-5, mitochondrial; NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species. Modulates ketogenesis through the desuccinyl [...] 9606.ENSP00000476252 ENSG00000271810 272 Rho-related GTP-binding protein RhoC 9606.ENSP00000476253 SRRM5 715 Serine/arginine repetitive matrix 5 9606.ENSP00000476295 CDYL2 506 Chromodomain Y like 2 9606.ENSP00000476312 BHLHA15 189 Class A basic helix-loop-helix protein 15; Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E- box occupancy by homodimers. May also negatively regulate bHLH- mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene express [...] 9606.ENSP00000476313 OR8G1 311 Olfactory receptor 8G1; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000476369 FBXW2 454 F-box/WD repeat-containing protein 2; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex; F-box and WD repeat domain containing 9606.ENSP00000476384 SCX 201 Basic helix-loop-helix transcription factor scleraxis; Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages; Basic helix-loop-helix proteins 9606.ENSP00000476499 ZBTB8B 495 Zinc finger and BTB domain-containing protein 8B; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000476510 LYPD4 246 LY6/PLAUR domain containing 4 9606.ENSP00000476519 KCNN1 543 Small conductance calcium-activated potassium channel protein 1; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity); Belongs to the potassium channel KCNN family. KCa2.1/KCNN1 subfamily 9606.ENSP00000476535 ENSG00000279624 57 annotation not available 9606.ENSP00000476537 ENSG00000259060 199 Ribonuclease A family member 11 9606.ENSP00000476603 GPRIN3 776 G protein-regulated inducer of neurite outgrowth 3; May be involved in neurite outgrowth 9606.ENSP00000476672 RPEL1 228 Ribulose-phosphate 3-epimerase-like protein 1; Catalyzes the reversible epimerization of D-ribulose 5- phosphate to D-xylulose 5-phosphate 9606.ENSP00000476742 ENSG00000273049 126 Uncharacterized protein 9606.ENSP00000476746 ZBTB25 435 Zinc finger and BTB domain-containing protein 25; May be involved in transcriptional regulation; BTB domain containing 9606.ENSP00000476755 PPP1R12B 982 Protein phosphatase 1 regulatory subunit 12B; Regulates myosin phosphatase activity. Augments Ca(2+) sensitivity of the contractile apparatus; Ankyrin repeat domain containing 9606.ENSP00000476767 FKBP8 413 Peptidyl-prolyl cis-trans isomerase FKBP8; Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis; FKBP prolyl isomerases 9606.ENSP00000476774 C16orf53 254 PAXIP1-associated glutamate-rich protein 1; Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex. However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switchin [...] 9606.ENSP00000476792 RGAG4 569 Retrotransposon Gag-like protein 5; Retrotransposon gag domain containing 4 9606.ENSP00000476795 GAN 597 Gigaxonin; Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival; BTB domain containing 9606.ENSP00000476815 SLC25A16 332 Graves disease carrier protein; Required for the accumulation of coenzyme A in the mitochondrial matrix; Solute carriers 9606.ENSP00000476820 TRABD2B 517 Metalloprotease TIKI2; Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N- terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation; Belongs to the TIKI family 9606.ENSP00000476821 KRTAP10-7 370 Keratin-associated protein 10-7; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000476948 RPAP2 612 Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2; Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated 'Ser-7' of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of 'Ser-5' of the CTD, thereby promoting transcription of snRNA genes 9606.ENSP00000476955 NCBP2L 153 Nuclear cap binding protein subunit 2 like; Belongs to the RRM NCBP2 family 9606.ENSP00000476960 HIST2H3PS2 136 Histone cluster 2 H3 pseudogene 2 9606.ENSP00000476986 C6orf99 125 Putative uncharacterized protein C6orf99; Chromosome 6 open reading frame 99 9606.ENSP00000477014 OR8G5 346 Olfactory receptor 8G5; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000477017 SMIM5 77 Small integral membrane protein 5 9606.ENSP00000477037 ENSG00000259171 31 Uncharacterized protein; This RNase has marked specificity towards the 3' side of uridine nucleotides; Ribonuclease A family 9606.ENSP00000477043 ENSG00000273291 101 Uncharacterized protein 9606.ENSP00000477056 ENSG00000241489 339 Iduronate 2-sulfatase (Hunter syndrome), isoform CRA_e; Iduronate 2-sulfatase 14 kDa chain; Uncharacterized protein; cDNA FLJ42669 fis, clone BRAMY2022168, highly similar to IDURONATE 2-SULFATASE 9606.ENSP00000477059 XKR7 579 XK-related protein 7; XK related family 9606.ENSP00000477118 ENSG00000273047 84 annotation not available 9606.ENSP00000477141 FRRS1L 344 DOMON domain-containing protein FRRS1L; Important modulator of glutamate signaling pathway 9606.ENSP00000477213 APBB1 710 Amyloid-beta A4 precursor protein-binding family B member 1; Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro- apoptosis factors such as MAPK8/JNK [...] 9606.ENSP00000477310 DYNLL2 89 Dynein light chain 2, cytoplasmic; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures (By similarity); Belongs to the dynein light chain family 9606.ENSP00000477314 PCDHB16 776 Protocadherin beta-16; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000477341 PPM1K 372 Protein phosphatase 1K, mitochondrial; Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development; Belongs to the PP2C family 9606.ENSP00000477344 SYT6 425 Synaptotagmin-6; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)- regulation of exocytosis in acrosomal reaction in sperm (By similarity); Synaptotagmins 9606.ENSP00000477352 SCOC 159 Short coiled-coil protein; Positive regulator of amino acid starvation-induced autophagy; Belongs to the SCOC family 9606.ENSP00000477367 ENSG00000272693 301 annotation not available 9606.ENSP00000477392 ZNF595 648 Zinc finger protein 595; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000477437 KCNJ6 423 G protein-activated inward rectifier potassium channel 2; This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to [...] 9606.ENSP00000477445 OR10G6 332 Olfactory receptor 10G6; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000477455 GRIN2B 1484 Glutamate receptor ionotropic, NMDA 2B; Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. [...] 9606.ENSP00000477502 NOMO2 1267 Nodal modulator 2; May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NCLN 9606.ENSP00000477507 C14orf169 641 Ribosomal oxygenase 1; Oxygenase that can act as both a histone lysine demethylase and a ribosomal histidine hydroxylase. Specifically demethylates 'Lys-4' (H3K4me) and 'Lys-36' (H3K36me) of histone H3, thereby playing a central role in histone code. Preferentially demethylates trimethylated H3 'Lys-4' (H3K4me3) and monomethylated H3 'Lys-4' (H3K4me1) residues, while it has weaker activity for dimethylated H3 'Lys-36' (H3K36me2). Also catalyzes the hydroxylation of 60S ribosomal protein L8 on 'His-216'. Acts as a regulator of osteoblast differentiation via its interaction with SP7/OSX [...] 9606.ENSP00000477509 NBPF11 865 Neuroblastoma breakpoint family member 11; NBPF member 11; Belongs to the NBPF family 9606.ENSP00000477515 DGKK 1271 Diacylglycerol kinase kappa; Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA) 9606.ENSP00000477527 HIST1H2BO 126 Histone H2B type 1-O; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000477530 F8A3 371 Coagulation factor VIII-associated 3; Not known. Possible housekeeping role 9606.ENSP00000477538 NAP1L1 391 Nucleosome assembly protein 1-like 1; May be involved in modulating chromatin formation and contribute to regulation of cell proliferation; Belongs to the nucleosome assembly protein (NAP) family 9606.ENSP00000477548 HCRTR2 444 Orexin receptor type 2; Nonselective, high-affinity receptor for both orexin-A and orexin-B neuropeptides. Triggers an increase in cytoplasmic Ca(2+) levels in response to orexin-A binding; Hypocretin receptors 9606.ENSP00000477563 MR1 341 Major histocompatibility complex class I-related gene protein; Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T-cell receptor alpha chain called mucosal-associated invariant T- cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent; C1-set domain containing 9606.ENSP00000477564 SCARF2 866 Scavenger receptor class F member 2; Probable adhesion protein, which mediates homophilic and heterophilic interactions. In contrast to SCARF1, it poorly mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL) (By similarity); Scavenger receptors 9606.ENSP00000477567 CYP4F8 520 Cytochrome P450 4F8; Hydroxylates arachidonic acid (20:4n-6) to (18R)- hydroxyarachidonate. Shows little activity against prostaglandin (PG) D2, PGE1, PGE2, PGF2alpha, and leukotriene B4. Catalyzes omega-2 and omega-3-hydroxylation of PGH1 and PGH2. Catalyzes epoxidation of 4,7,10,13,16,19-(Z)-docosahexaenoic acid (22:6n-3) and 7,10,13,16,19-(Z)-docosapentaenoic acid (22:5n-3) and omega-3- hydroxylation of 4,7,10,13,16-(Z)-docosapentaenoic acid (22:5n-6). Catalyzes hydroxylation of PGI2 and carbaprostacyclin; Belongs to the cytochrome P450 family 9606.ENSP00000477572 HMOX2 370 Heme oxygenase 2; Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter 9606.ENSP00000477587 SRD5A2 254 3-oxo-5-alpha-steroid 4-dehydrogenase 2; Converts testosterone (T) into 5-alpha- dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology 9606.ENSP00000477590 CPNE3 537 Copine-3; Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation; Belongs to the copine family 9606.ENSP00000477596 ENSG00000273154 170 annotation not available 9606.ENSP00000477597 MROH2A 1688 Maestro heat like repeat family member 2A 9606.ENSP00000477602 ELOVL1 279 Elongation of very long chain fatty acids protein 1; Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involve [...] 9606.ENSP00000477613 BIRC2 618 Baculoviral IAP repeat-containing protein 2; Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin- protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target protein [...] 9606.ENSP00000477627 TMC4 712 Transmembrane channel-like protein 4; Probable ion channel; Transmembrane channel likes 9606.ENSP00000477639 NAGK 390 N-acetyl-D-glucosamine kinase; Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity 9606.ENSP00000477653 DUSP14 198 Dual specificity protein phosphatase 14; Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases; Atypical dual specificity phosphatases 9606.ENSP00000477654 C18orf54 533 Lung adenoma susceptibility protein 2; Might play a role in cell proliferation 9606.ENSP00000477688 AQP6 282 Aquaporin-6; Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism; Aquaporins 9606.ENSP00000477695 ANKRD20A1 823 Ankyrin repeat domain-containing protein 20A1; Ankyrin repeat domain 20 family member A1 9606.ENSP00000477706 ZNF316 1004 Zinc finger protein 316; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000477707 NR1H3 453 Oxysterols receptor LXR-alpha; Nuclear receptor. Interaction with RXR shifts RXR from its role as a silent DNA-binding partner to an active ligand- binding subunit in mediating retinoid responses through target genes defined by LXRES. LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half- sites spaced by four nucleotides. Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8. Interplays functionally with RORA for the regulation of [...] 9606.ENSP00000477715 CPEB1 561 Cytoplasmic polyadenylation element-binding protein 1; Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU- 3') within the mRNA 3'-UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism. In absence of phosphorylation and in association with TACC3 is also involved as a repressor of tra [...] 9606.ENSP00000477716 ZNF8 575 Zinc finger protein 8; Transcriptional repressor. May modulate BMP and TGF-beta signal transduction, through its interaction with SMAD proteins; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000477724 C12orf79 115 Uncharacterized protein encoded by LINC01619; Chromosome 12 open reading frame 79 9606.ENSP00000477725 KANK1 1352 KN motif and ankyrin repeat domain-containing protein 1; Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronecti [...] 9606.ENSP00000477760 ANAPC16 110 Anaphase-promoting complex subunit 16; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains; Belongs to the APC16 family 9606.ENSP00000477776 SRGAP2B 458 SLIT-ROBO Rho GTPase-activating protein 2B; May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2; F-BAR domain containing 9606.ENSP00000477781 TPT1 197 Translationally-controlled tumor protein; Involved in calcium binding and microtubule stabilization 9606.ENSP00000477792 LRRC41 812 Leucine-rich repeat-containing protein 41; Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins 9606.ENSP00000477802 C1orf158 194 Uncharacterized protein C1orf158; Chromosome 1 open reading frame 158 9606.ENSP00000477815 PTCRA 296 Pre T-cell antigen receptor alpha; The pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) regulates early T-cell development 9606.ENSP00000477817 PTPDC1 808 Protein tyrosine phosphatase domain-containing protein 1; May play roles in cilia formation and/or maintenance; CDC14 phosphatases 9606.ENSP00000477829 LHX1 406 LIM/homeobox protein Lhx1; Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis; LIM class homeoboxes 9606.ENSP00000477841 ZNF282 671 Zinc finger protein 282; Binds to the U5 repressive element (U5RE) of the human T cell leukemia virus type I long terminal repeat. It recognizes the 5'-TCCACCCC-3' sequence as a core motif and exerts a strong repressive effect on HTLV-I LTR-mediated expression; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000477846 CLEC18C 446 C-type lectin domain family 18 member C; Binds polysaccharidesin a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans; C-type lectin domain containing 9606.ENSP00000477848 AATF 560 Protein AATF; May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been desc [...] 9606.ENSP00000477850 ENSG00000275691 46 annotation not available 9606.ENSP00000477856 GGTLC3 225 Gamma-glutamyltransferase light chain family member 3; Gamma-glutamyltransferases 9606.ENSP00000477868 TOX4 621 TOX high mobility group box family member 4; Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase 9606.ENSP00000477870 HIST1H4G 98 Histone H4-like protein type G; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity) 9606.ENSP00000477907 HIST1H2BM 126 Histone H2B type 1-M; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000477908 CCL3 92 C-C motif chemokine 3; Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-alpha induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV); Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000477920 GIMAP5 511 GTPase IMAP family member 5; Required for mitochondrial integrity and T-cell survival. May contribute to T-cell quiescence (By similarity); GTPases, IMAP 9606.ENSP00000477922 SSX2B 223 Synovial sarcoma, X breakpoint 2B; SSX family member 2B 9606.ENSP00000477935 ENSG00000262621 111 Uncharacterized protein; N-alpha-acetyltransferase 60 9606.ENSP00000477949 TMPRSS4 437 Transmembrane protease serine 4; Probable protease. Seems to be capable of activating ENaC (By similarity); Scavenger receptor cysteine rich domain containing 9606.ENSP00000477973 STAG3 1226 Cohesin subunit SA-3; Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis- specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I; Armadillo-like helical domain containing 9606.ENSP00000477979 NBPF9 1111 Neuroblastoma breakpoint family member 20; NBPF member 9; Belongs to the NBPF family 9606.ENSP00000477980 ENSG00000243667 765 WD repeat-containing protein 92; Seems to act as a modulator of apoptosis; WD repeat domain containing 9606.ENSP00000477981 SLC25A14 353 Brain mitochondrial carrier protein 1; Participates in the mitochondrial proton leak measured in brain mitochondria; Belongs to the mitochondrial carrier (TC 2.A.29) family 9606.ENSP00000477989 ENSG00000275038 91 annotation not available 9606.ENSP00000477999 NOS1 1468 Nitric oxide synthase, brain; Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR; Belongs to the NOS family 9606.ENSP00000478017 LOC649330 293 Heterogeneous nuclear ribonucleoprotein C-like 9606.ENSP00000478024 CCL16 120 C-C motif chemokine 16; Shows chemotactic activity for lymphocytes and monocytes but not neutrophils. Also shows potent myelosuppressive activity, suppresses proliferation of myeloid progenitor cells. Recombinant SCYA16 shows chemotactic activity for monocytes and THP-1 monocytes, but not for resting lymphocytes and neutrophils. Induces a calcium flux in THP-1 cells that were desensitized by prior expression to RANTES; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000478026 ANXA8 365 Annexin A8; Annexins 9606.ENSP00000478035 ENSG00000276345 153 Mitochondrial ribosomal protein L23 9606.ENSP00000478059 STIM1 791 Stromal interaction molecule 1; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit ORAI1. Involved in enamel formation. Activated following interaction with STIMATE, leading to promote STIM1 conformational switch; Sterile alpha motif domain containing 9606.ENSP00000478061 MARCKS 332 Myristoylated alanine-rich C-kinase substrate; MARCKS is the most prominent cellular substrate for protein kinase C. This protein binds calmodulin, actin, and synapsin. MARCKS is a filamentous (F) actin cross-linking protein 9606.ENSP00000478070 CWC25 425 CWC25 spliceosome associated protein homolog; Spliceosomal Bact complex 9606.ENSP00000478104 VPS13D 4388 Vacuolar protein sorting 13 homolog D; Belongs to the VPS13 family 9606.ENSP00000478121 TCEB1 112 Elongin-C; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important featur [...] 9606.ENSP00000478179 CASP8AP2 1972 CASP8-associated protein 2; Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF- kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase 9606.ENSP00000478187 CRY2 614 Cryptochrome-2; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time- keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and rena [...] 9606.ENSP00000478212 AKAP1 903 A-kinase anchor protein 1, mitochondrial; Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane; A-kinase anchoring proteins 9606.ENSP00000478220 GGNBP2 697 Gametogenetin-binding protein 2; May be involved in spermatogenesis 9606.ENSP00000478249 ENSG00000277726 61 TAR DNA binding protein, isoform CRA_d; TAR DNA-binding protein 43 9606.ENSP00000478253 MTHFD1L 979 Monofunctional C1-tetrahydrofolate synthase, mitochondrial; May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2; In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family 9606.ENSP00000478255 ABCB1 1280 Multidrug resistance protein 1; Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells; ATP binding cassette subfamily B 9606.ENSP00000478257 CCNI2 385 Cyclin-I2; Cyclin I family member 2; Cyclins 9606.ENSP00000478258 PCDHGB5 923 Protocadherin gamma-B5; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000478289 IGHV4-38-2 117 Immunoglobulin heavy variable 4-38-2; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whi [...] 9606.ENSP00000478290 SRGAP2C 459 SLIT-ROBO Rho GTPase-activating protein 2C; Involved in dendritic spine maturation through interaction with and inhibition of SRGAP2. Reduces the rate of spine maturation and indirectly increases neuronal migration. Changes dendritic spine morphology and density and may have implications for cognition, learning and memory; F-BAR domain containing 9606.ENSP00000478298 SPPL2B 592 Signal peptide peptidase-like 2B; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. May play a role in the regulation of innate and adaptive immunity. Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependen [...] 9606.ENSP00000478303 POLR2E 210 DNA-directed RNA polymerases I, II, and III subunit RPABC1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPB5 is part of the [...] 9606.ENSP00000478305 SMOX 585 Spermine oxidase; Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3-amino-propanal; Belongs to the flavin monoamine oxidase family 9606.ENSP00000478309 PRAMEF26 478 PRAME family member 26 9606.ENSP00000478310 SPCS1 169 Signal peptidase complex subunit 1; Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum; Belongs to the SPCS1 family 9606.ENSP00000478319 GREM1 184 Gremlin-1; Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signaling in a dose-dependent manner (By similarity). Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed (By similarity); Belongs to the DAN family 9606.ENSP00000478320 ATXN3 361 Ataxin-3; Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key [...] 9606.ENSP00000478345 ZNF714 555 Zinc finger protein 714; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000478384 FOXI3 420 Forkhead box protein I3; Possible transcriptional factor 9606.ENSP00000478388 NATD1 113 Protein NATD1; N-acetyltransferase domain containing 1 9606.ENSP00000478396 TTI2 508 TELO2-interacting protein 2; Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs; Armadillo-like helical domain containing 9606.ENSP00000478417 PPP6R2 959 Serine/threonine-protein phosphatase 6 regulatory subunit 2; Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6- mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha; Belongs to the SAPS family 9606.ENSP00000478425 MT1A 61 Metallothionein-1A; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids; Belongs to the metallothionein superfamily. Type 1 family 9606.ENSP00000478426 TBC1D3D 549 TBC1 domain family member 3D; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000478458 PLCL2 1127 Inactive phospholipase C-like protein 2; May play an role in the regulation of Ins(1,4,5)P3 around the endoplasmic reticulum; C2 domain containing phospholipases 9606.ENSP00000478474 UBE2F 185 NEDD8-conjugating enzyme UBE2F; Accepts the ubiquitin-like protein NEDD8 from the UBA3- NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX2, but not RBX1, suggests that the RBX2-UBE2F complex neddylates specific target proteins, such as CUL5 9606.ENSP00000478478 GOLGA6L1 668 Golgin subfamily A member 6-like protein 1; Golgin A6 family-like 1; Belongs to the GOLGA6 family 9606.ENSP00000478479 RAB18 235 Ras-related protein Rab-18; RAB18, member RAS oncogene family 9606.ENSP00000478490 YTHDF3 588 YTH domain-containing family protein 3; Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs and promotes RNA translation efficiency. M6A is a modification present at internal sites of mRNAs and some non- coding RNAs and plays a role in the efficiency of mRNA splicing, processing and stability. Shares m6A- containing mRNAs targets with YTHDF1 and YTHDF2, and regulates different processes depending on the context. Facilitates the translation of targeted mRNAs in cooperation with YTHDF1 by binding to m6A-containing mRNAs and interacting with 40S and 60S ribosome sub [...] 9606.ENSP00000478492 CYSLTR1 337 Cysteinyl leukotriene receptor 1; Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G-protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4 9606.ENSP00000478501 ANAPC10 185 Anaphase-promoting complex subunit 10; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains 9606.ENSP00000478516 NLRP1 1473 NACHT, LRR and PYD domains-containing protein 1; As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu. Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulat [...] 9606.ENSP00000478533 ZNF274 653 Neurotrophin receptor-interacting factor homolog; Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin- modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions 9606.ENSP00000478557 ZNF787 382 Zinc finger protein 787; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000478561 CYP1B1 543 Cytochrome P450 1B1; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, retinoid and xenobiotics. Preferentially oxidizes 17beta- estradiol to the carcinogenic 4-hydroxy derivative, and a variety of procarcinogenic compounds to their activated forms, including polycyclic aromatic hydrocarbons. Promotes angiogenesis by removing cellular oxygenation products, thereby decreasing oxidative stres [...] 9606.ENSP00000478568 GAGE2E 110 G antigen 2E 9606.ENSP00000478570 VEGFA 412 Vascular endothelial growth factor A; Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. NRP1/Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to KDR but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth. Binding to NRP1 receptor initiates a signaling pathway needed fo [...] 9606.ENSP00000478589 TTC25 672 Tetratricopeptide repeat protein 25; Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility; Tetratricopeptide repeat domain containing 9606.ENSP00000478591 NEURL3 262 E3 ubiquitin-protein ligase NEURL3; E3 ubiquitin-protein ligase. Seems to utilize UBE2E1. In vitro, generates polyubiquitin chains via non-canonical lysine residues suggesting that it is not involved in tagging substrates for proteasomal degradation; Ring finger proteins 9606.ENSP00000478600 LEPREL2 736 Prolyl 3-hydroxylase 3; Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils. Required for normal hydroxylation of lysine residues in type I collagen chains in skin, bone, tendon, aorta and cornea. Required for normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. Apparently not required for normal prolyl 3-hydroxylation on collagen chains, possibly because it function [...] 9606.ENSP00000478606 PCDHB9 797 Protocadherin beta-9; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins 9606.ENSP00000478609 NBPF12 1457 Neuroblastoma breakpoint family member 1; NBPF member 12 9606.ENSP00000478610 ENSG00000263020 304 Chimera CSNK2B-LY6G5B splicing isoform 991 9606.ENSP00000478637 SYT16 645 Synaptotagmin-16; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent; Synaptotagmins 9606.ENSP00000478639 SLC1A7 619 Amino acid transporter; Solute carrier family 1 member 7 9606.ENSP00000478645 ICA1L 482 Islet cell autoantigen 1-like protein; Classical BAR domain containing 9606.ENSP00000478671 CNTNAP3B 1288 Contactin-associated protein-like 3B; Contactin associated protein like 3B 9606.ENSP00000478672 RAG2 527 V(D)J recombination-activating protein 2; Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T- lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the pho [...] 9606.ENSP00000478683 ENSG00000274611 549 TBC1 domain family, member 3; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 9606.ENSP00000478699 TNFRSF9 255 Tumor necrosis factor receptor superfamily member 9; Receptor for TNFSF9/4-1BBL. Possibly active during T cell activation; CD molecules 9606.ENSP00000478721 RYK 610 Tyrosine-protein kinase RYK; May be a coreceptor along with FZD8 of Wnt proteins, such as WNT1, WNT3, WNT3A and WNT5A. Involved in neuron differentiation, axon guidance, corpus callosum establishment and neurite outgrowth. In response to WNT3 stimulation, receptor C- terminal cleavage occurs in its transmembrane region and allows the C-terminal intracellular product to translocate from the cytoplasm to the nucleus where it plays a crucial role in neuronal development; Belongs to the protein kinase superfamily. Tyr protein kinase family 9606.ENSP00000478725 IGHV3-11 96 Immunoglobulin heavy variable 3-11; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which [...] 9606.ENSP00000478752 NBPF19 3843 Neuroblastoma breakpoint family, member 14; Belongs to the NBPF family 9606.ENSP00000478754 DDX6 483 Probable ATP-dependent RNA helicase DDX6; In the process of mRNA degradation, plays a role in mRNA decapping. Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degration of their transcripts; Belongs to the DEAD box helicase family. DDX6/DHH1 subfamily 9606.ENSP00000478755 SEC14L2 403 SEC14-like protein 2; Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell; SEC14 family 9606.ENSP00000478767 PPP1R9B 817 Neurabin-2; Seems to act as a scaffold protein in multiple signaling pathways. Modulates excitatory synaptic transmission and dendritic spine morphology. Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May play an important role in linking the actin cytoskeleton to the plasma membrane at the synaptic junction. Believed to target protein phosphatase 1/PP1 to dendritic spines, which are rich in F-actin, and regulates its specificity toward ion channels and other substrates, such as AMPA-type and NMDA-type glutamate receptors. Pla [...] 9606.ENSP00000478783 LTN1 1812 E3 ubiquitin-protein ligase listerin; E3 ubiquitin-protein ligase component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. Ubiquitination leads to VCP/p97 recruitment for extraction and degradation of the incomplete translation product (By similarity); Armadillo-like helical domain containing 9606.ENSP00000478796 ENSG00000276760 581 POTE ankyrin domain family member B 9606.ENSP00000478828 PTMS 102 Parathymosin; Parathymosin may mediate immune function by blocking the effect of prothymosin alpha which confers resistance to certain opportunistic infections 9606.ENSP00000478830 TMPRSS7 717 Transmembrane protease serine 7; Serine protease which preferentially hydrolyzes peptides with Arg at the P1 position; Belongs to the peptidase S1 family 9606.ENSP00000478834 TEX28 410 Testis-specific protein TEX28; Testis expressed 28; Belongs to the TEX28 family 9606.ENSP00000478874 CAMK1D 385 Calcium/calmodulin-dependent protein kinase type 1D; Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and respiratory burst and promotes basal dendritic growth of hippocampal neurons. In neutrophil cells, required for cytokine- induced proliferative responses and activation of the respiratory burst. Activates the transcription factor CREB1 in hippocampal neuron nuclei. May play a role in apoptosis of eryth [...] 9606.ENSP00000478877 ADRM1 407 Proteasomal ubiquitin receptor ADRM1; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Within the complex, functions as a proteasomal ubiquitin receptor. Engag [...] 9606.ENSP00000478878 CPNE4 575 Copine-4; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes; Belongs to the copine family 9606.ENSP00000478882 ENSG00000277475 176 annotation not available 9606.ENSP00000478886 C17orf78 275 Uncharacterized protein C17orf78; Chromosome 17 open reading frame 78 9606.ENSP00000478892 GNAZ 355 Guanine nucleotide-binding protein G(z) subunit alpha; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems 9606.ENSP00000478910 ENSG00000274847 129 annotation not available 9606.ENSP00000478927 YAP1 508 Transcriptional coactivator YAP1; Transcriptional regulator which can act both as a coactivator and a corepressor and is the critical downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncopro [...] 9606.ENSP00000478931 AIFM2 373 Apoptosis-inducing factor 2; Oxidoreductase, which may play a role in mediating a p53/TP53-dependent apoptosis response. Probable oxidoreductase that acts as a caspase-independent mitochondrial effector of apoptotic cell death. Binds to DNA in a sequence-independent manner. May contribute to genotoxin-induced growth arrest; Belongs to the FAD-dependent oxidoreductase family 9606.ENSP00000478933 ENSG00000277758 444 Uncharacterized protein; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues; Synaptotagmins 9606.ENSP00000478941 ENSG00000233757 522 annotation not available 9606.ENSP00000478942 UPK1A 273 Uroplakin-1a; Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity); Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000478962 CBY1 169 Protein chibby homolog 1; Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation; Belongs to the chibby family 9606.ENSP00000478980 USP17L15 559 Ubiquitin carboxyl-terminal hydrolase 17-like protein 15; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000478982 RPP38 283 Ribonuclease P protein subunit p38; Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. RPP38 may associate transiently with RNase P RNA as a factor involved in the transport of H1 RNA to the putative site of its assembly in the cell, the nucleolus; Belongs to the eukaryotic ribosomal protein eL8 family 9606.ENSP00000478993 GPHB5 130 Glycoprotein hormone beta-5; Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism; Belongs to the glycoprotein hormones subunit beta family 9606.ENSP00000479060 CCDC28A 274 Coiled-coil domain containing 28A 9606.ENSP00000479064 GJA9-MYCBP 110 Uncharacterized protein; GJA9-MYCBP readthrough 9606.ENSP00000479069 ENSG00000278674 546 Elongin-A3 member B; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) 9606.ENSP00000479089 OSCAR 286 Osteoclast-associated immunoglobulin-like receptor; Regulator of osteoclastogenesis which plays an important bone-specific function in osteoclast differentiation; Belongs to the leukocyte receptor complex/polymeric immunogobulin receptor (PIR/LRC) family 9606.ENSP00000479097 CCL14 109 C-C motif chemokine ligand 14 9606.ENSP00000479101 ENC1 589 Ectoderm-neural cortex protein 1; Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin- mediated proteasomal degradation mechanism; BTB domain containing 9606.ENSP00000479104 SVOP 548 Synaptic vesicle 2-related protein; SV2 related protein 9606.ENSP00000479106 HIST1H4A 103 Histone cluster 1 H4 family member a; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000479113 GABRG3 467 Gamma-aminobutyric acid receptor subunit gamma-3; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub-subfamily 9606.ENSP00000479119 ENSG00000278782 95 annotation not available 9606.ENSP00000479130 ACSF3 576 Acyl-CoA synthetase family member 3, mitochondrial; Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates; Acyl-CoA synthetase family 9606.ENSP00000479134 FMN1 1419 Formin-1; Plays a role in the formation of adherens junction and the polymerization of linear actin cables; Belongs to the formin homology family. Cappuccino subfamily 9606.ENSP00000479139 ENSG00000277630 584 Homo sapiens POTE ankyrin domain family member D-like (LOC100288966), mRNA 9606.ENSP00000479153 EHD1 548 EH domain-containing protein 1; ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes. Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating [...] 9606.ENSP00000479168 PRH1 187 Uncharacterized protein; PRP's act as highly potent inhibitors of crystal growth of calcium phosphates. They provide a protective and reparative environment for dental enamel which is important for the integrity of the teeth; Proline rich proteins 9606.ENSP00000479169 HIST1H2BH 126 Histone H2B type 1-H; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000479203 HNRNPCP5 293 Heterogeneous nuclear ribonucleoprotein C-like 2; May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs 9606.ENSP00000479206 TCEB3CL 546 Putative elongin-A3 member C; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) 9606.ENSP00000479207 GALNTL5 443 Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5; Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region; Polypeptide N-acetylgalactosaminyltransferases 9606.ENSP00000479216 UBXN8 270 UBX domain-containing protein 8; Involved in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins, possibly by tethering VCP to the endoplasmic reticulum membrane. May play a role in reproduction; UBX domain containing 9606.ENSP00000479240 PINLYP 228 Phospholipase A2 inhibitor and LY6/PLAUR domain containing; Belongs to the CNF-like-inhibitor family 9606.ENSP00000479243 ECSCR 205 Endothelial cell-specific chemotaxis regulator; Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2; Belongs to the ECSCR family 9606.ENSP00000479248 JAKMIP2 820 Janus kinase and microtubule interacting protein 2; Belongs to the JAKMIP family 9606.ENSP00000479256 TRIL 811 TLR4 interactor with leucine rich repeats; Component of the TLR4 signaling complex. Mediate the innate immune response to bacterial lipopolysaccharide (LPS) leading to cytokine secretion 9606.ENSP00000479258 PANO 215 Proapoptotic nucleolar protein 1; Apoptosis-inducing protein that modulates the tumor suppressor function of CDKN2A/p14ARF. Enhances the stability of CDKN2A/p14ARF protein by protecting it from degradation. May act as a tumor suppressor 9606.ENSP00000479266 BORA 634 Protein aurora borealis; Required for the activation of AURKA at the onset of mitosis 9606.ENSP00000479281 FLJ44313 163 Uncharacterized protein LOC400658 9606.ENSP00000479284 HIST3H2BB 126 Histone H2B type 3-B; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000479291 NBPF8 5207 Neuroblastoma breakpoint family member 20; NBPF member 8 9606.ENSP00000479319 CKLF-CMTM1 168 CKLF-CMTM1 readthrough 9606.ENSP00000479322 CLIP1 1438 CAP-Gly domain-containing linker protein 1; Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking 9606.ENSP00000479326 RIMBP3B 1639 RIMS binding protein 3B 9606.ENSP00000479355 LENG9 478 Leukocyte receptor cluster member 9 9606.ENSP00000479362 GOLGA6L10 522 Golgin subfamily A member 6-like protein 10; Golgin A6 family-like 10; Belongs to the GOLGA6 family 9606.ENSP00000479365 HNRNPCL1 293 Heterogeneous nuclear ribonucleoprotein C-like 1; May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs; RNA binding motif containing 9606.ENSP00000479370 GUCD1 296 Protein GUCD1; Guanylyl cyclase domain containing 1 9606.ENSP00000479373 ENSG00000275674 104 annotation not available 9606.ENSP00000479378 ENSG00000274175 102 annotation not available 9606.ENSP00000479396 C17orf98 154 Uncharacterized protein C17orf98; Chromosome 17 open reading frame 98 9606.ENSP00000479444 C10orf142 130 Uncharacterized protein LOC100130539 9606.ENSP00000479449 ZNF700 745 Zinc finger protein 700; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000479461 HIST1H4D 103 Histone cluster 1 H4 family member d; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000479488 PHB 272 Prohibitin; Prohibitin inhibits DNA synthesis. It has a role in regulating proliferation. As yet it is unclear if the protein or the mRNA exhibits this effect. May play a role in regulating mitochondrial respiration activity and in aging 9606.ENSP00000479494 PCID2 453 PCI domain containing 2; Transcription and export complex 2 9606.ENSP00000479504 DDX52 599 Probable ATP-dependent RNA helicase DDX52; DExD-box helicase 52; Belongs to the DEAD box helicase family. DDX52/ROK1 subfamily 9606.ENSP00000479518 MYO19 970 Unconventional myosin-XIX; Actin-based motor molecule with ATPase activity that localizes to the mitochondrion outer membrane. Motor protein that moves towards the plus-end of actin filaments (By similarity). Required for mitochondrial inheritance during mitosis. May be involved in mitochondrial transport or positioning; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family 9606.ENSP00000479526 DPF3 412 Zinc finger protein DPF3; Belongs to the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchange [...] 9606.ENSP00000479536 CD177 437 CD177 antigen; In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production. In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration. Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro. However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo. Acts as a receptor for the mature form of protea [...] 9606.ENSP00000479542 KIZ 673 Centrosomal protein kizuna; Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole; Belongs to the kizuna family 9606.ENSP00000479571 C7orf71 169 Putative uncharacterized protein C7orf71; Chromosome 7 open reading frame 71 9606.ENSP00000479580 GIMAP6 362 GTPase, IMAP family member 6 9606.ENSP00000479586 LYNX1 131 Ly-6/neurotoxin-like protein 1; Acts in different tissues through interaction to nicotinic acetylcholine receptors (nAChRs). The proposed role as modulator of nAChR activity seems to be dependent on the nAChR subtype and stoichiometry, and to involve an effect on nAChR trafficking and its cell surface expression, and on single channel properties of the nAChR inserted in the plasma membrane. Modulates functional properties of nicotinic acetylcholine receptors (nAChRs) to prevent excessive excitation, and hence neurodegeneration. Enhances desensitization by increasing both the rate and e [...] 9606.ENSP00000479598 RHNO1 238 RAD9, HUS1, RAD1-interacting nuclear orphan protein 1; Plays a role in DNA damage response (DDR) signaling upon genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation 9606.ENSP00000479606 CLTC 1679 Clathrin heavy chain 1; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch- TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter- microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension. Plays a role in early autophagosome formation; Belongs to the clathrin heavy chain [...] 9606.ENSP00000479608 ENSG00000278289 189 Cancer/testis antigen family 45 member A6 9606.ENSP00000479617 UHRF1 806 E3 ubiquitin-protein ligase UHRF1; Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD- type zinc fingers, specifically recognizes and binds histone H3 trimethylat [...] 9606.ENSP00000479618 MYC 454 Myc proto-oncogene protein; Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'- CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis; Basic helix-loop-helix proteins 9606.ENSP00000479624 F8A1 371 Factor VIII intron 22 protein; Not known. Possible housekeeping role 9606.ENSP00000479636 PLCD3 789 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3; Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Essential for trophoblast and placental development. May participate in cytokinesis by hydrolyzing PIP2 at the cleavage furrow; C2 domain containing phospholipases 9606.ENSP00000479656 KRTAP7-1 87 Keratin-associated protein 7-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins 9606.ENSP00000479664 AOAH 688 Acyloxyacyl hydrolase; Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides. By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (By similarity). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (By similarity) 9606.ENSP00000479667 RPS6KA5 802 Ribosomal protein S6 kinase alpha-5; Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factors RELA, STAT3 and ETV1/ER81, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes. Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin. Plays an essential role in the control of RELA transcriptional act [...] 9606.ENSP00000479669 CAB39L 337 Calcium-binding protein 39-like; Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (By similarity) 9606.ENSP00000479675 IGHV3-15 112 Immunoglobulin heavy variable 3-15; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which [...] 9606.ENSP00000479679 KCP 1628 Kielin/chordin-like protein 9606.ENSP00000479693 NBPF26 2988 Neuroblastoma breakpoint family member 14; NBPF member 14 9606.ENSP00000479708 MAL2 176 Protein MAL2; Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway 9606.ENSP00000479716 DNAJC28 388 DnaJ homolog subfamily C member 28; May have a role in protein folding or as a chaperone; DNAJ heat shock proteins 9606.ENSP00000479730 LRCOL1 159 Leucine-rich colipase-like protein 1; Leucine rich colipase like 1 9606.ENSP00000479745 PRSS56 603 Serine protease 56; Serine protease required during eye development 9606.ENSP00000479762 RAB7B 199 Ras-related protein Rab-7b; Controls vesicular trafficking from endosomes to the trans-Golgi network (TGN). Acts as a negative regulator of TLR9 signaling and can suppress TLR9-triggered TNFA, IL6, and IFNB production in macrophages by promoting TLR9 lysosomal degradation. Also negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. Promotes megakaryocytic differentiation by increasing NF-kappa-B-dependent IL6 production and subsequently enhancing the association of STAT3 with GATA1. Not involved in the regulation of the EGF- and EGFR degradation [...] 9606.ENSP00000479773 CFAP57 1283 Cilia and flagella associated protein 57 9606.ENSP00000479794 HIST1H4K 103 Histone cluster 1 H4 family member k; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000479811 CNTNAP4 1308 Contactin-associated protein-like 4; Presynaptic protein involved in both dopaminergic synaptic transmission and GABAergic system, thereby participating in the structural maturation of inhibitory interneuron synapses. Involved in the dopaminergic synaptic transmission by attenuating dopamine release through a presynaptic mechanism. Also participates in the GABAergic system (By similarity) 9606.ENSP00000479816 DENND1B 775 DENN domain-containing protein 1B; Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells. Acts by promoting the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Plays a role in clathrin- mediated endocytosis. Controls cytokine production in TH2 lymphocytes by controlling the rate of TCR internalization and routing to endosomes: acts by mediating clathrin-mediated endocytosis of TCR via its interaction with the adapter protein complex 2 (AP-2) and GEF activity. Dysregul [...] 9606.ENSP00000479844 RASGRP4 673 RAS guanyl-releasing protein 4; Functions as a cation- and diacylglycerol (DAG)- regulated nucleotide exchange factor activating Ras through the exchange of bound GDP for GTP. May function in mast cells differentiation; EF-hand domain containing 9606.ENSP00000479850 ALG1L2 215 Putative glycosyltransferase ALG1L2; Putative glycosyltransferase; Glycosyl transferases group 1 domain containing 9606.ENSP00000479860 CIB1 231 Calcium and integrin binding 1; EF-hand domain containing 9606.ENSP00000479861 SEPT2 396 Septin-2; Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation. Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the [...] 9606.ENSP00000479870 ALOX5AP 218 Arachidonate 5-lipoxygenase-activating protein; Required for leukotriene biosynthesis by ALOX5 (5- lipoxygenase). Anchors ALOX5 to the membrane. Binds arachidonic acid, and could play an essential role in the transfer of arachidonic acid to ALOX5. Binds to MK-886, a compound that blocks the biosynthesis of leukotrienes; Belongs to the MAPEG family 9606.ENSP00000479884 ZNF229 825 Zinc finger protein 229; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000479904 ZMYM2 1377 Zinc finger MYM-type protein 2; May function as a transcription factor; Zinc fingers MYM-type 9606.ENSP00000479910 MLLT6 1093 Protein AF-17; MLLT6, PHD finger containing 9606.ENSP00000479919 SH3GLB1 394 Endophilin-B1; May be required for normal outer mitochondrial membrane dynamics. Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion. Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation. Isoform 1 acts proapoptotic in fibroblasts (By similarity). Involved in caspase-independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by a [...] 9606.ENSP00000479921 ENSG00000273748 123 annotation not available 9606.ENSP00000479953 LRRC8E 796 Volume-regulated anion channel subunit LRRC8E; Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and may also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition 9606.ENSP00000479955 CCL18 89 C-C motif chemokine 18; Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes. May be involved in B-cell migration into B-cell follicles in lymph nodes. Attracts naive T-lymphocytes toward dendritic cells and activated macrophages in lymph nodes, has chemotactic activity for naive T-cells, CD4+ and CD8+ T-cells and thus may play a role in both humoral and cell-mediated immunity responses; Chemokine ligands 9606.ENSP00000479964 SLC4A1AP 796 Kanadaptin; Solute carrier family 4 member 1 adaptor protein 9606.ENSP00000479969 C19orf80 198 Angiopoietin-like protein 8; Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels. May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity); Belongs to the ANGPTL8 family 9606.ENSP00000479976 C11orf96 122 Uncharacterized protein C11orf96; Chromosome 11 open reading frame 96 9606.ENSP00000480004 EPHX1 455 Epoxide hydrolase 1; Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids 9606.ENSP00000480012 ENSG00000258555 412 Adenosine receptor A2a; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase; Belongs to the G-protein coupled receptor 1 family 9606.ENSP00000480020 HEMGN 484 Hemogen; Regulates the proliferation and differentiation of hematopoietic cells. Overexpression block the TPA-induced megakaryocytic differentiation in the K562 cell model. May also prevent cell apoptosis through the activation of the nuclear factor-kappa B (NF-kB) 9606.ENSP00000480027 ENSG00000239810 478 PRAME family member 11 9606.ENSP00000480043 VEGFC 419 Vascular endothelial growth factor C; Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors 9606.ENSP00000480050 SYN2 582 Synapsin-2; Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. May play a role in noradrenaline secretion by sympathetic neurons (By similarity); Belongs to the synapsin family 9606.ENSP00000480053 GPIHBP1 184 Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1; Plays a key role in the lipolytic processing of chylomicrons. Required for the transport of lipoprotein lipase LPL into the capillary lumen (By similarity); LY6/PLAUR domain containing 9606.ENSP00000480056 METTL8 407 Methyltransferase-like protein 8; Probable methyltransferase; Belongs to the methyltransferase superfamily. METL family 9606.ENSP00000480059 ENSG00000250719 95 annotation not available 9606.ENSP00000480079 ENSG00000273554 635 annotation not available 9606.ENSP00000480090 PKD1L3 1732 Polycystic kidney disease protein 1-like 3; Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect; C-type lectin domain containing 9606.ENSP00000480091 NMRK2 235 Nicotinamide riboside kinase 2; Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis; Belongs to the uridine kinase family. NRK subfamily 9606.ENSP00000480106 ENSG00000278384 243 annotation not available 9606.ENSP00000480122 PRAMEF5 476 PRAME family member 5; Belongs to the PRAME family 9606.ENSP00000480132 NCAM1 884 Neural cell adhesion molecule 1; This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc; CD molecules 9606.ENSP00000480140 SRSF8 282 Serine/arginine-rich splicing factor 8; Involved in pre-mRNA alternative splicing; Serine and arginine rich splicing factors 9606.ENSP00000480150 HYOU1 999 Hypoxia up-regulated protein 1; Has a pivotal role in cytoprotective cellular mechanisms triggered by oxygen deprivation. May play a role as a molecular chaperone and participate in protein folding; Belongs to the heat shock protein 70 family 9606.ENSP00000480157 PIK3R6 754 Phosphoinositide 3-kinase regulatory subunit 6; Regulatory subunit of the PI3K gamma complex. Acts as an adapter to drive activation of PIK3CG by beta-gamma G protein dimers. The PIK3CG:PIK3R6 heterodimer is much less sensitive to beta-gamma G protein dimers than PIK3CG:PIK3R5 and its membrane recruitment and beta-gamma G protein dimer-dependent activation requires HRAS bound to PIK3CG. Recruits of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex involved in angiogenesis; signaling seems to involve RRAS 9606.ENSP00000480158 POLR2A 1980 DNA-directed RNA polymerase II subunit RPB1; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cl [...] 9606.ENSP00000480186 POLD2 504 DNA polymerase delta subunit 2; As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol- delta3 shows higher proofreading activity than Pol-delta4. Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this [...] 9606.ENSP00000480218 ZNF761 746 Zinc finger protein 761; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000480221 ANXA8L1 327 Annexin A8 like 1; Belongs to the annexin family 9606.ENSP00000480262 ZNF48 618 Zinc finger protein 48; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000480279 USH1G 461 Usher syndrome type-1G protein; Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing; Ankyrin repeat domain containing 9606.ENSP00000480291 HNF1B 557 Hepatocyte nuclear factor 1-beta; Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'; Belongs to the HNF1 homeobox family 9606.ENSP00000480297 ZNF2 425 Zinc finger protein 2; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000480301 IQSEC1 1114 IQ motif and SEC7 domain-containing protein 1; Guanine nucleotide exchange factor for ARF1 and ARF6. Guanine nucleotide exchange factor activity is enhanced by lipid binding. Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin 9606.ENSP00000480313 ENSG00000280071 268 annotation not available 9606.ENSP00000480314 C19orf68 920 Uncharacterized protein ZSWIM9; Chromosome 19 open reading frame 68 9606.ENSP00000480316 TUBGCP5 1024 Gamma-tubulin complex component 5; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome 9606.ENSP00000480318 ENSG00000274792 316 Olfactory receptor; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000480322 CD99L2 272 CD99 antigen-like protein 2; Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity); Belongs to the CD99 family 9606.ENSP00000480330 ENSG00000274874 130 annotation not available 9606.ENSP00000480332 TRAPPC3 188 Trafficking protein particle complex subunit 3; May play a role in vesicular transport from endoplasmic reticulum to Golgi; Trafficking protein particle complex 9606.ENSP00000480336 SLC22A24 552 Solute carrier family 22 member 24 9606.ENSP00000480348 ENSG00000026036 300 Tumor necrosis factor receptor superfamily member 6B; Decoy receptor that can neutralize the cytotoxic ligands TNFS14/LIGHT, TNFSF15 and TNFSF6/FASL. Protects against apoptosis 9606.ENSP00000480355 CXorf49 514 Chromosome X open reading frame 49 9606.ENSP00000480359 PDLIM5 625 PDZ and LIM domain protein 5; May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May restrain postsynaptic growth of excitatory synapses (By similarity); LIM domain containing 9606.ENSP00000480364 WBSCR16 464 RCC1-like G exchanging factor-like protein; Williams-Beuren syndrome chromosome region 16 9606.ENSP00000480376 GOLGA6L6 724 Golgin subfamily A member 6-like protein 6; Golgin A6 family-like 6; Belongs to the GOLGA6 family 9606.ENSP00000480378 MTERF4 381 Transcription termination factor 4, mitochondrial; Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S); Belongs to the mTERF family 9606.ENSP00000480401 ZNF205 554 Zinc finger protein 205; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000480405 GPR1 355 G-protein coupled receptor 1; Receptor for the inflammation-associated leukocyte chemoattractant chemerin/RARRES2 suggesting a role for this receptor in the regulation of inflammation. Can act as a coreceptor for HIV-1; G protein-coupled receptors, Class A orphans 9606.ENSP00000480421 SRRT 876 Serrate RNA effector molecule homolog; Acts as a mediator between the cap-binding complex (CBC) and the primary microRNAs (miRNAs) processing machinery during cell proliferation. Contributes to the stability and delivery of capped primary miRNA transcripts to the primary miRNA processing complex containing DGCR8 and DROSHA, thereby playing a role in RNA-mediated gene silencing (RNAi) by miRNAs. Binds capped RNAs (m7GpppG-capped RNA); however interaction is probably mediated via its interaction with NCBP1/CBP80 component of the CBC complex. Involved in cell cycle progression at S phase. [...] 9606.ENSP00000480428 B4GALT3 393 Beta-1,4-galactosyltransferase 3; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids; Beta 4-glycosyltransferases 9606.ENSP00000480439 DHRS3 302 Short-chain dehydrogenase/reductase 3; Catalyzes the reduction of all-trans-retinal to all- trans-retinol in the presence of NADPH; Short chain dehydrogenase/reductase superfamily 9606.ENSP00000480443 HSD11B1L 333 Hydroxysteroid 11-beta-dehydrogenase 1-like protein; Short chain dehydrogenase/reductase superfamily; Belongs to the short-chain dehydrogenases/reductases (SDR) family 9606.ENSP00000480445 MSANTD3 275 Myb/SANT-like DNA-binding domain-containing protein 3; Myb/SANT DNA binding domain containing 3; Belongs to the MSANTD3 family 9606.ENSP00000480467 IFNA13 190 Interferon alpha-1/13; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000480474 COL19A1 1142 Collagen alpha-1(XIX) chain; May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle; Belongs to the fibril-associated collagens with interrupted helices (FACIT) family 9606.ENSP00000480476 OPLAH 1288 5-oxoprolinase; Catalyzes the cleavage of 5-oxo-L-proline to form L- glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate 9606.ENSP00000480483 NRN1 168 Neuritin; Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells 9606.ENSP00000480484 TCHH 1943 Trichohyalin; Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation; EF-hand domain containing 9606.ENSP00000480489 PDZD7 1033 PDZ domain-containing protein 7; Deafness associated genes 9606.ENSP00000480492 TSPAN10 393 Tetraspanin-10; Regulates maturation of the transmembrane metalloprotease ADAM10; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000480499 ITCH 903 E3 ubiquitin-protein ligase Itchy homolog; Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation. Involved in the control of inflammatory signaling pathways. Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of the complex after [...] 9606.ENSP00000480507 ENSG00000278646 41 annotation not available 9606.ENSP00000480514 TMCO1 239 Calcium load-activated calcium channel; Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis. In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store 9606.ENSP00000480524 GTF2IRD2B 949 General transcription factor II-I repeat domain-containing protein 2B; GTF2I repeat domain containing 2B; Belongs to the TFII-I family 9606.ENSP00000480527 ENSG00000256514 80 annotation not available 9606.ENSP00000480538 DNAI1 703 Dynein intermediate chain 1, axonemal; Part of the dynein complex of respiratory cilia; Belongs to the dynein intermediate chain family 9606.ENSP00000480556 ZNF718 478 Zinc finger protein 718; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000480558 CCL3L3 93 C-C motif chemokine 3-like 1; Chemotactic for lymphocytes and monocytes. Is a ligand for CCR1, CCR3 and CCR5. Is an inhibitor of HIV-1-infection. The processed form LD78-beta(3-70) shows a 20-fold to 30-fold higher chemotactic activity and is a very potent inhibitor of HIV-1- infection. LD78-beta(3-70) is also a ligand for CCR1, CCR3 and CCR5; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000480571 CYP3A7 535 Cytochrome P450 3A7; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics 9606.ENSP00000480573 ADRA2B 450 Alpha-2B adrenergic receptor; Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol; Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. [...] 9606.ENSP00000480583 OR52E5 327 Olfactory receptor 52E5; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000480601 CFAP99 646 Cilia and flagella associated protein 99 9606.ENSP00000480609 ENSG00000255819 216 NKG2-D type II integral membrane protein; Function as an activating and costimulatory receptor involved in immunosurveillance upon binding to various cellular stress-inducible ligands displayed at the surface of autologous tumor cells and virus-infected cells. Provides both stimulatory and costimulatory innate immune responses on activated killer (NK) cells, leading to cytotoxic activity. Acts as a costimulatory receptor for T-cell receptor (TCR) in CD8(+) T-cell-mediated adaptive immune responses by amplifying T-cell activation. Stimulates perforin-mediated elimination of ligand-expre [...] 9606.ENSP00000480615 ANTXRL 631 Anthrax toxin receptor like 9606.ENSP00000480616 ORAI1 301 Calcium release-activated calcium channel protein 1; Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1. CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT; Belongs to the Orai family 9606.ENSP00000480626 PRDM11 1177 PR domain-containing protein 11; May be involved in transcription regulation; Belongs to the class V-like SAM-binding methyltransferase superfamily 9606.ENSP00000480627 LOC154872 90 annotation not available 9606.ENSP00000480637 MAGEA6 314 Melanoma-associated antigen 6; Proposed to enhance ubiquitin ligase activity of RING- type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines; MAGE family 9606.ENSP00000480660 GRIP2 1140 Glutamate receptor-interacting protein 2; May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons; PDZ domain containing 9606.ENSP00000480703 SLC46A1 459 Proton-coupled folate transporter; Has been shown to act both as an intestinal proton- coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme; Solute carriers 9606.ENSP00000480707 COPZ2 210 Coatomer subunit zeta-2; The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properti [...] 9606.ENSP00000480715 IQCE 702 IQ domain-containing protein E; Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling 9606.ENSP00000480722 NUDT18 323 8-oxo-dGDP phosphatase NUDT18; Mediates the hydrolyzis of oxidized nucleoside diphosphate derivatives. Hydrolyzes 8-oxo-7,8-dihydroguanine (8- oxo-Gua)-containing deoxyribo- and ribonucleoside diphosphates to the monophosphates. Hydrolyzes 8-oxo-dGDP and 8-oxo-GDP with the same efficiencies. Hydrolyzes also 8-OH-dADP and 2-OH-dADP. Exhibited no or minimal hydrolyzis activity against 8-oxo-dGTP, 8- oxo-GTP, dGTP, GTP, dGDP and GDP. Probably removes oxidized guanine nucleotides from both the DNA and RNA precursor pools; Belongs to the Nudix hydrolase family 9606.ENSP00000480740 LRRC39 339 Leucine-rich repeat-containing protein 39; Component of the sarcomeric M-band which plays a role in myocyte response to biomechanical stress. May regulate expression of other M-band proteins via an SRF-dependent pathway. Important for normal contractile function in heart 9606.ENSP00000480744 ZNF385C 424 Zinc finger protein 385C 9606.ENSP00000480750 ZAN 2812 Zonadhesin; Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling 9606.ENSP00000480763 EPHA5 1038 Ephrin type-A receptor 5; Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5. Functions as an axon guidance molecule during development and may be involved in [...] 9606.ENSP00000480768 ENSG00000261793 33 annotation not available 9606.ENSP00000480791 FGF1 155 Fibroblast growth factor 1; Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerization and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signaling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with int [...] 9606.ENSP00000480798 NDFIP2 336 NEDD4 family-interacting protein 2; Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus and multivesicular body where it mediates KCNH2 degradation. May modulate EGFR signal [...] 9606.ENSP00000480818 ENSG00000271254 791 Neuroblastoma breakpoint family member 11 9606.ENSP00000480821 LSR 649 Lipolysis-stimulated lipoprotein receptor; Probable role in the clearance of triglyceride-rich lipoprotein from blood. Binds chylomicrons, LDL and VLDL in presence of free fatty acids and allows their subsequent uptake in the cells (By similarity); Belongs to the immunoglobulin superfamily. LISCH7 family 9606.ENSP00000480824 PKIB 85 cAMP-dependent protein kinase inhibitor beta; Extremely potent competitive inhibitor of cAMP-dependent protein kinase activity, this protein interacts with the catalytic subunit of the enzyme after the cAMP-induced dissociation of its regulatory chains 9606.ENSP00000480826 HIST1H3A 136 Histone cluster 1 H3 family member a; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000480828 FDFT1 417 Squalene synthase; Farnesyl-diphosphate farnesyltransferase 1 9606.ENSP00000480832 NOP16 178 NOP16 nucleolar protein; Belongs to the NOP16 family 9606.ENSP00000480836 BCL2L13 509 Bcl-2-like protein 13; May promote the activation of caspase-3 and apoptosis; BCL2 family 9606.ENSP00000480851 SRRM3 653 Serine/arginine repetitive matrix 3; Belongs to the CWC21 family 9606.ENSP00000480853 VPS29 214 Vacuolar protein sorting-associated protein 29; Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo [...] 9606.ENSP00000480884 ST3GAL6 384 Type 2 lactosamine alpha-2,3-sialyltransferase; Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3- sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1; Belongs to the glycosyltransferase 29 family 9606.ENSP00000480890 SLC6A6 620 Sodium- and chloride-dependent taurine transporter; Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake; Solute carriers 9606.ENSP00000480893 SPAST 616 Spastin; ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated. Preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Severing activity is not dependent on tubulin acetylation or detyrosination. Microtubule severing promotes reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation [...] 9606.ENSP00000480914 C20orf195 318 Fibronectin type III domain-containing protein 11; Chromosome 20 open reading frame 195 9606.ENSP00000480916 SLC9A7 726 Sodium/hydrogen exchanger 7; Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to Golgi volume and cation homeostasis; Solute carriers 9606.ENSP00000480946 SETSIP 302 Protein SETSIP; Plays a role as a transcriptional activator involved in the early stage of somatic cell reprogramming. Promotes the differentiation of protein-induced pluripotent stem (PiPS) cells into endothelial cells and the formation of vascular-like tubes (in vitro). Involved in the transcription induction of vascular endothelial-cadherin (VE-cadherin) expression. Associates to the VE-cadherin gene promoter 9606.ENSP00000480958 ZNF280B 543 Zinc finger protein 280B; May function as a transcription factor 9606.ENSP00000480960 HIST1H4L 103 Histone cluster 1 H4 family member l; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000480966 P2RY6 328 P2Y purinoceptor 6; Receptor for extracellular UDP > UTP > ATP. The activity of this receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system; P2Y receptors 9606.ENSP00000480971 SSTR3 418 Somatostatin receptor type 3; Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase 9606.ENSP00000480986 ZCCHC17 263 Nucleolar protein of 40 kDa; Zinc finger CCHC-type containing 17 9606.ENSP00000480987 MCM3 853 DNA replication licensing factor MCM3; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differential [...] 9606.ENSP00000480991 CHST9 443 Carbohydrate sulfotransferase 9; Catalyzes the transfer of sulfate to position 4 of non- reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Participates in biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Has a higher activity toward carbonic anhydrase VI than toward lutropin. Only active against terminal GalNAcbeta1,GalNAcbeta. Isoform 2, but not isoform 1, is active toward chondroitin; Sulfotransferases, membrane bound 9606.ENSP00000480998 BHLHE23 241 Class E basic helix-loop-helix protein 23; May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity); Basic helix-loop-helix proteins 9606.ENSP00000481006 PLP1 277 Myelin proteolipid protein; This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin; Belongs to the myelin proteolipid protein family 9606.ENSP00000481012 GAS2L1 681 GAS2-like protein 1; Seems to be involved in the cross-linking of microtubules and microfilaments 9606.ENSP00000481021 SHFM1 118 Putative protein SEM1, isoform 2; Split hand/foot malformation (ectrodactyly) type 1 9606.ENSP00000481022 SCAMP1 338 Secretory carrier-associated membrane protein 1; Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface; Belongs to the SCAMP family 9606.ENSP00000481029 PSMC3 439 26S proteasome regulatory subunit 6A; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated wit [...] 9606.ENSP00000481038 CYFIP1 1253 Cytoplasmic FMR1-interacting protein 1; Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the [...] 9606.ENSP00000481045 TESK1 626 Dual specificity testis-specific protein kinase 1; Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Probably plays a central role at and after the meiotic phase of spermatogenesis (By similarity) 9606.ENSP00000481046 PHOSPHO2 241 Pyridoxal phosphate phosphatase PHOSPHO2; Phosphatase that has high activity toward pyridoxal 5'- phosphate (PLP). Also active at much lower level toward pyrophosphate, phosphoethanolamine (PEA), phosphocholine (PCho), phospho-l-tyrosine, fructose-6-phosphate, p-nitrophenyl phosphate, and h-glycerophosphate; HAD Asp-based non-protein phosphatases 9606.ENSP00000481054 RAB44 1021 Ras-related protein Rab-44; RAB44, member RAS oncogene family 9606.ENSP00000481056 FCGBP 4204 Fc fragment of IgG binding protein 9606.ENSP00000481078 GOLGA6L9 432 Golgin subfamily A member 6-like protein 9; Golgin A6 family-like 9; Belongs to the GOLGA6 family 9606.ENSP00000481091 TADA2A 443 Transcriptional adapter 2-alpha; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double- stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote XRCC6 acetylation thus facilitating cell apoptosis in [...] 9606.ENSP00000481096 MGAT4C 478 Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C; Glycosyltransferase that participates in the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N- linked glycans. Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. Essential for the production of tri- and tetra-antennary N-linked sugar chains (By similarity). Does not catalyze the transfer of GlcNAc to the Manalpha1-6 arm to form GlcNAcBeta1-4Manalpha1-6 linkage ('GnT-VI' activity); Mannosyl-glycoprotein N-acet [...] 9606.ENSP00000481103 E2F8 867 Transcription factor E2F8; Atypical E2F transcription factor that participates in various processes such as angiogenesis and polyploidization of specialized cells. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1: component of a feedback loop in S phase by repressing the expression of E2F1, thereby preventing p53/TP53-dependent apoptosis. Plays a key role in polyploidization of cells in placenta a [...] 9606.ENSP00000481109 SGK223 1406 Tyrosine-protein kinase SgK223 9606.ENSP00000481110 FAM83D 615 Protein FAM83D; Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC. May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade. May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22 9606.ENSP00000481114 FOLR3 245 Folate receptor gamma; Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate 9606.ENSP00000481126 VPS11 941 Vacuolar protein sorting-associated protein 11 homolog; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late [...] 9606.ENSP00000481127 PIG6 600 Proline dehydrogenase 1, mitochondrial; Converts proline to delta-1-pyrroline-5-carboxylate; Belongs to the proline oxidase family 9606.ENSP00000481142 ENSG00000276302 84 annotation not available 9606.ENSP00000481149 ANKRD36B 1353 Ankyrin repeat domain-containing protein 36B; Ankyrin repeat domain containing; Belongs to the ANKRD36 family 9606.ENSP00000481152 IGHV3-43D 98 Immunoglobulin heavy variable 3-43D; V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, whic [...] 9606.ENSP00000481184 CT45A4 189 Cancer/testis antigen family 45 member A3 9606.ENSP00000481185 GRIFIN 144 Grifin; Galectin-related inter-fiber protein 9606.ENSP00000481203 SHISA8 397 Putative protein shisa-8; Shisa family member 8 9606.ENSP00000481244 FXYD1 92 Phospholemman; Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell. Inhibits NKA activity in its unphosphorylated state and stimulates activity when phosphorylated. Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus reversing glutathionylation-mediated inhibition of ATP1B1. Contributes to female sexual development by maintaining the excitability of neurons which secrete gonadotropin-releasing hormone 9606.ENSP00000481249 SOCS2 198 Suppressor of cytokine signaling 2; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. SOCS2 appears to be a negative regulator in the growth hormone/IGF1 signaling pathway. Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; SH2 domain containing 9606.ENSP00000481258 ENSG00000274933 549 TBC1 domain family member 3I; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000481301 SLC38A3 504 Sodium-coupled neutral amino acid transporter 3; Sodium-dependent amino acid/proton antiporter. Mediates electrogenic cotransport of glutamine and sodium ions in exchange for protons. Also recognizes histidine, asparagine and alanine. May mediate amino acid transport in either direction under physiological conditions. May play a role in nitrogen metabolism and synaptic transmission; Solute carriers 9606.ENSP00000481314 SNX12 162 Sorting nexin-12; May be involved in several stages of intracellular trafficking; Sorting nexins 9606.ENSP00000481321 GABRR3 467 Gamma-aminobutyric acid receptor subunit rho-3; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 9606.ENSP00000481351 SAP25 199 Histone deacetylase complex subunit SAP25; Involved in the transcriptional repression mediated by the mSIN3A but not the N-CoR corepressor complex 9606.ENSP00000481357 CCL23 137 C-C motif chemokine ligand 23 9606.ENSP00000481358 TMEM191B 346 Transmembrane protein 191B 9606.ENSP00000481421 SLC22A31 338 Putative solute carrier family 22 member 31; Organic anion transporter that mediates the uptake of ions; Solute carriers 9606.ENSP00000481450 AMY2A 511 Pancreatic alpha-amylase; Amylase, alpha 2A 9606.ENSP00000481457 TRIM49B 452 Putative tripartite motif-containing protein 49B; Tripartite motif containing 49B; Belongs to the TRIM/RBCC family 9606.ENSP00000481486 HIST1H4I 103 Histone cluster 1 H4 family member i; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000481495 DDX24 859 ATP-dependent RNA helicase DDX24; ATP-dependent RNA helicase; Belongs to the DEAD box helicase family. DDX24/MAK5 subfamily 9606.ENSP00000481508 TBC1D3L 549 TBC1 domain family member 3L; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000481542 ENSG00000273136 1186 Neuroblastoma breakpoint family member 1 9606.ENSP00000481554 GRIA3 894 Glutamate receptor 3; Receptor for glutamate that functions as ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of [...] 9606.ENSP00000481559 MRM1 353 rRNA methyltransferase 1, mitochondrial; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O- methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA 9606.ENSP00000481570 TNFAIP3 790 Tumor necrosis factor alpha-induced protein 3; Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in [...] 9606.ENSP00000481575 POM121C 987 Nuclear envelope pore membrane protein POM 121C; Essential component of the nuclear pore complex (NPC). The repeat-containing domain may be involved in anchoring components of the pore complex to the pore membrane. When overexpressed in cells induces the formation of cytoplasmic annulate lamellae (AL); Belongs to the POM121 family 9606.ENSP00000481581 FOXD1 465 Forkhead box protein D1; Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes; Forkhead boxes 9606.ENSP00000481592 SMIM22 88 Small integral membrane protein 22 9606.ENSP00000481593 HTD2 168 Hydroxyacyl-thioester dehydratase type 2, mitochondrial; Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis; Belongs to the HTD2 family 9606.ENSP00000481594 OR56A5 313 Olfactory receptor 56A5; Odorant receptor; Olfactory receptors, family 56 9606.ENSP00000481613 POM121L1P 429 annotation not available 9606.ENSP00000481622 H2BFS 126 Histone H2B type F-S; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000481626 C18orf25 404 Uncharacterized protein C18orf25; Chromosome 18 open reading frame 25 9606.ENSP00000481644 ENSG00000273496 120 annotation not available 9606.ENSP00000481646 RPS10 165 40S ribosomal protein S10; Component of the 40S ribosomal subunit; Belongs to the eukaryotic ribosomal protein eS10 family 9606.ENSP00000481675 SPRY1 319 Protein sprouty homolog 1; May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis 9606.ENSP00000481684 FADS6 368 Fatty acid desaturase 6; Belongs to the fatty acid desaturase type 1 family 9606.ENSP00000481694 SLC35E2B 405 Solute carrier family 35 member E2B; Putative transporter; Solute carriers 9606.ENSP00000481697 RSRC1 334 Serine/Arginine-related protein 53; Plays a role in pre-mRNA splicing. Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing 9606.ENSP00000481699 SERPINI2 415 Serpin peptidase inhibitors 9606.ENSP00000481721 TBC1D2 928 TBC1 domain family member 2A; Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion 9606.ENSP00000481728 ABCG4 646 ATP-binding cassette sub-family G member 4; May be involved in macrophage lipid homeostasis; ATP binding cassette subfamily G 9606.ENSP00000481732 FMO1 532 Dimethylaniline monooxygenase [N-oxide-forming] 1; This protein is involved in the oxidative metabolism of a variety of xenobiotics such as drugs and pesticides. Form I catalyzes the N-oxygenation of secondary and tertiary amines 9606.ENSP00000481750 AP5S1 200 AP-5 complex subunit sigma-1; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair 9606.ENSP00000481762 CSDE1 844 Cold shock domain-containing protein E1; RNA-binding protein. Required for internal initiation of translation of human rhinovirus RNA. May be involved in translationally coupled mRNA turnover. Implicated with other RNA- binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding- region determinant of instability (mCRD) domain 9606.ENSP00000481815 TRIM64C 450 Putative tripartite motif-containing protein 64C; Tripartite motif containing 64C; Belongs to the TRIM/RBCC family 9606.ENSP00000481819 ZNF568 644 Zinc finger protein 568; Has transcriptional repression activity, partially through the recuitment of the corepressor TRIM28 but has also repression activity independently of this interaction. Essential during embryonic development, where it acts as direct repressor of a placental-specific transcript of IGF2 in early development and regulates convergent extension movements required for axis elongation and tissue morphogenesis in all germ layers. Also important for normal morphogenesis of extraembryonic tissues including the yolk sac, extraembryonic mesoderm and placenta. May enhance pr [...] 9606.ENSP00000481824 ENSG00000259159 579 Membrane frizzled-related protein; May play a role in eye development; C1q and TNF related 9606.ENSP00000481842 SAP18 172 Histone deacetylase complex subunit SAP18; Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during [...] 9606.ENSP00000481848 KCNN3 746 Small conductance calcium-activated potassium channel protein 3; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin; Potassium calcium-activated channels 9606.ENSP00000481850 JADE3 823 Protein Jade-3; Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo; PHD finger proteins 9606.ENSP00000481854 FAM13C 585 Protein FAM13C; Family with sequence similarity 13 member C; Belongs to the FAM13 family 9606.ENSP00000481862 ARHGAP23 1491 Rho GTPase-activating protein 23; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state; PDZ domain containing 9606.ENSP00000481878 GNB1 340 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction 9606.ENSP00000481912 CHST12 414 Carbohydrate sulfotransferase 12; Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor; Belongs to the sulfotransferase 2 family 9606.ENSP00000481917 SEZ6L2 923 Seizure 6-like protein 2; May contribute to specialized endoplasmic reticulum functions in neurons; Belongs to the SEZ6 family 9606.ENSP00000481920 MED6 257 Mediator of RNA polymerase II transcription subunit 6; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000481928 ENSG00000259305 292 Zinc fingers and homeoboxes protein 1, isoform 2; ZHX1-C8orf76 readthrough 9606.ENSP00000481934 ARHGAP11B 267 Rho GTPase-activating protein 11B; Hominin-specific protein that promotes development and evolutionary expansion of the brain neocortex. Able to promote amplification of basal progenitors in the subventricular zone, producing more neurons during fetal corticogenesis. Does not possess GTPase activator activity; Rho GTPase activating proteins 9606.ENSP00000481937 CEACAM20 596 Carcinoembryonic antigen-related cell adhesion molecule 20; Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response; Belongs to the immunoglobulin superfamily. CEA family 9606.ENSP00000481956 CREB3L1 519 Cyclic AMP-responsive element-binding protein 3-like protein 1; Transcription factor involved in unfolded protein response (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3'. In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nuc [...] 9606.ENSP00000481994 EPHB6 1022 Ephrin type-B receptor 6; Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T-cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2 9606.ENSP00000482027 NR4A3 637 Nuclear receptor subfamily 4 group A member 3; Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes (By similarity). Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation. Mediates proliferation of vasc [...] 9606.ENSP00000482032 IP6K1 441 Inositol hexakisphosphate kinase 1; Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4; Belongs to the inositol phosphokinase (IPK) family 9606.ENSP00000482038 ENSG00000275869 124 TP53 target 3D 9606.ENSP00000482063 PCGF2 344 Polycomb group RING finger protein 2; Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero- posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to mai [...] 9606.ENSP00000482075 PTGES3 164 Prostaglandin E synthase 3; Cytosolic prostaglandin synthase that catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). Molecular chaperone that localizes to genomic response elements in a hormone-dependent manner and disrupts receptor-mediated transcriptional activation, by promoting disassembly of transcriptional regulatory complexes. Facilitates HIF alpha proteins hydroxylation via interaction with EGLN1/PHD2, leading to recruit EGLN1/PHD2 to the HSP90 pathway 9606.ENSP00000482093 PER3 1210 Period circadian protein homolog 3; Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and [...] 9606.ENSP00000482107 ENSG00000275464 919 annotation not available 9606.ENSP00000482119 IQCA1P1 818 IQ and AAA domain-containing protein 1-like; IQ motif containing with AAA domain 1 pseudogene 1; Belongs to the AAA ATPase family 9606.ENSP00000482128 CPEB3 698 Cytoplasmic polyadenylation element-binding protein 3; Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator (By similarity). In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3'-UTR, but binds to a U-rich loop within a stem-loop structure (By similarity). Required for the consolidation and maintenance of hippocampal-based long term memory (By similarity). In the basal state, bi [...] 9606.ENSP00000482133 ENSG00000258644 182 SYNJ2BP-COX16 readthrough 9606.ENSP00000482142 FAM156A 213 Protein FAM156A/FAM156B; Family with sequence similarity 156 member A 9606.ENSP00000482169 NEFL 543 Neurofilament light polypeptide; Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber 9606.ENSP00000482180 C11orf95 678 Uncharacterized protein C11orf95; Chromosome 11 open reading frame 95 9606.ENSP00000482195 ZCCHC18 403 Zinc finger CCHC-type containing 18; Belongs to the ZCCHC12 family 9606.ENSP00000482202 PIGW 504 Phosphatidylinositol-glycan biosynthesis class W protein; Required for the transport of GPI-anchored proteins to the plasma membrane. Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity); Belongs to the PIGW family 9606.ENSP00000482218 BCL2L12 334 Bcl-2-like protein 12; BCL2 like 12 9606.ENSP00000482228 PLEKHA2 425 Pleckstrin homology domain-containing family A member 2; Binds specifically to phosphatidylinositol 3,4- diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity); Pleckstrin homology domain containing 9606.ENSP00000482229 SOCS7 581 Suppressor of cytokine signaling 7; Regulates signaling cascades probably through protein ubiquitination and/or sequestration. Functions in insulin signaling and glucose homeostasis through IRS1 ubiquitination and subsequent proteasomal degradation. Inhibits also prolactin, growth hormone and leptin signaling by preventing STAT3 and STAT5 activation, sequestering them in the cytoplasm and reducing their binding to DNA. May be a substrate recognition component of a SCF- like E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of t [...] 9606.ENSP00000482232 CGA 147 Glycoprotein hormones, alpha polypeptide; Belongs to the glycoprotein hormones subunit alpha family 9606.ENSP00000482241 CT45-5 189 annotation not available 9606.ENSP00000482245 DACH1 706 Dachshund homolog 1; Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin- dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction w [...] 9606.ENSP00000482259 CCL4 92 C-C motif chemokine 4; Monokine with inflammatory and chemokinetic properties. Binds to CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-beta induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV). The processed form MIP-1-beta(3-69) retains the abilities to induce down-modulation of surface expression of the chemokine receptor CCR5 and to inhibit the CCR5- mediated entry of HIV-1 in T-cells. MIP-1-beta(3-69) is also a ligand for CCR1 and CCR2 isoform B; Belongs to the intercrine beta ( [...] 9606.ENSP00000482263 ENSG00000277666 199 annotation not available 9606.ENSP00000482264 DGAT1 488 Diacylglycerol O-acyltransferase 1; Catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. In contrast to DGAT2 it is not essential for survival. May be involved in VLDL (very low density lipoprotein) assembly. In liver, plays a role in esterifying exogenous fatty acids to glycerol. Functions as the major acyl-CoA retinol acyltransferase (ARAT) in the skin, where it acts to maintain retinoid homeostasis and prevent retinoid toxicity leading to skin and hair disorders; Belongs to the membrane-bound acyltransf [...] 9606.ENSP00000482270 CXorf49B 514 Uncharacterized protein CXorf49; Chromosome X open reading frame 49B 9606.ENSP00000482271 HIST1H3E 136 Histone cluster 1 H3 family member e; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000482282 C8orf31 132 Uncharacterized protein C8orf31; Chromosome 8 open reading frame 31 9606.ENSP00000482285 IFFO1 571 Intermediate filament family orphan 1; Belongs to the intermediate filament family 9606.ENSP00000482286 C2orf48 159 Uncharacterized protein C2orf48; Chromosome 2 open reading frame 48 9606.ENSP00000482304 ZP4 540 Zona pellucida sperm-binding protein 4; The mammalian zona pellucida, which mediates species- specific sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy, is composed of three to four glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP4 may act as a sperm receptor 9606.ENSP00000482306 TTC8 531 Tetratricopeptide repeat protein 8; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl [...] 9606.ENSP00000482313 RECQL4 1208 ATP-dependent DNA helicase Q4; DNA-dependent ATPase. May modulate chromosome segregation; Belongs to the helicase family. RecQ subfamily 9606.ENSP00000482325 ANKRD20A3 823 Ankyrin repeat domain-containing protein 20A3; Ankyrin repeat domain 20 family member A3 9606.ENSP00000482335 MAP7 779 Ensconsin; Microtubule-stabilizing protein that may play an important role during reorganization of microtubules during polarization and differentiation of epithelial cells. Associates with microtubules in a dynamic manner. May play a role in the formation of intercellular contacts. Colocalization with TRPV4 results in the redistribution of TRPV4 toward the membrane and may link cytoskeletal microfilaments; Belongs to the MAP7 family 9606.ENSP00000482345 TBC1D3A 549 TBC1 domain family member 3; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 9606.ENSP00000482358 PRSS57 283 Serine protease 57; Serine protease that cleaves preferentially after Arg residues. Can also cleave after citrulline (deimidated arginine) and methylarginine residues; Belongs to the peptidase S1 family 9606.ENSP00000482364 TMEM99 258 Transmembrane protein 99 9606.ENSP00000482374 FLJ22184 1346 Proline-rich protein 36; Putative uncharacterized protein FLJ22184 9606.ENSP00000482378 LRP5L 252 Low-density lipoprotein receptor-related protein 5-like protein; LDL receptor related protein 5 like 9606.ENSP00000482393 IRX4 545 Iroquois-class homeodomain protein IRX-4; Likely to be an important mediator of ventricular differentiation during cardiac development; TALE class homeoboxes and pseudogenes 9606.ENSP00000482396 ENSG00000086848 844 Alpha-1,2-mannosyltransferase ALG9; Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides; Belongs to the glycosyltransferase 22 family 9606.ENSP00000482410 JRK 568 Jerky protein homolog; May bind DNA; Belongs to the tigger transposable element derived protein family 9606.ENSP00000482431 HIST1H2AK 130 Histone cluster 1 H2A family member k; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000482437 DIBD1 618 Mannosyltransferase; Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides; Belongs to the glycosyltransferase 22 family 9606.ENSP00000482438 MED22 200 Mediator of RNA polymerase II transcription subunit 22; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors 9606.ENSP00000482442 FXYD6 144 FXYD domain containing ion transport regulator 6; Belongs to the FXYD family 9606.ENSP00000482445 FAM213A 229 Redox-regulatory protein FAM213A; Involved in redox regulation of the cell. Acts as an antioxidant. Inhibits TNFSF11-induced NFKB1 and JUN activation and osteoclast differentiation. May affect bone resorption and help to maintain bone mass. Acts as a negative regulator of macrophage-mediated inflammation by inhibiting macrophage production of inflammatory cytokines, probably through suppression of the MAPK signaling pathway; Belongs to the peroxiredoxin-like FAM213 family. FAM213A subfamily 9606.ENSP00000482457 PLCG2 1265 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling; C2 domain containing phospholipases 9606.ENSP00000482472 LPP 612 Lipoma-preferred partner; May play a structural role at sites of cell adhesion in maintaining cell shape and motility. In addition to these structural functions, it may also be implicated in signaling events and activation of gene transcription. May be involved in signal transduction from cell adhesion sites to the nucleus allowing successful integration of signals arising from soluble factors and cell-cell adhesion sites. Also suggested to serve as a scaffold protein upon which distinct protein complexes are assembled in the cytoplasm and in the nucleus; Zyxin family 9606.ENSP00000482482 FAM228B 324 HCG1820835, isoform CRA_a; Family with sequence similarity 228 member B 9606.ENSP00000482492 RFPL3S 107 Putative protein RFPL3S; RFPL3 antisense 9606.ENSP00000482502 TYW1B 668 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase; Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N- methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity) 9606.ENSP00000482504 NR2E3 410 Photoreceptor-specific nuclear receptor; Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression; Nuclear hormone receptors 9606.ENSP00000482514 ENSG00000183628 220 Protein DGCR6; May play a role in neural crest cell migration into the third and fourth pharyngeal pouches; Belongs to the gonadal family 9606.ENSP00000482515 SPATS2L 588 SPATS2-like protein; Spermatogenesis associated serine rich 2 like; Belongs to the SPATS2 family 9606.ENSP00000482523 CDRT4 152 CMT1A duplicated region transcript 4 9606.ENSP00000482538 HIST1H2AL 130 Histone H2A type 1; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000482540 ZNF658 1059 Zinc finger protein 658; Mediates transcriptional repression in response to zinc. Represses several genes, including SLC30A5, SLC30A10 and CBWD1, by binding to the zinc transcriptional regulatory element (ZTRE) (5'- C[AC]C[TAG]CC[TC]-N(0-50)-[GA]G[ATC]G[TG]G-3') found in the promoter region. May play a role in the control of ribosome biogenesis, regulating predominantly rRNA levels, as well as those of several ribosomal proteins, thus coordinating this highly zinc- demanding process with the available zinc supply; Zinc fingers C2H2-type 9606.ENSP00000482546 REC8 547 Meiotic recombination protein REC8 homolog; Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity); Belongs to the rad21 family 9606.ENSP00000482548 PIP4K2B 416 Phosphatidylinositol 5-phosphate 4-kinase type-2 beta; Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate 9606.ENSP00000482552 FAM170A 329 Protein FAM170A; Acts as a nuclear transcription factor that positively regulates the expression of heat shock genes. Binds to heat shock promoter elements (HSE) 9606.ENSP00000482564 H2AFB3 115 Histone H2A-Bbd type 2/3; Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associ [...] 9606.ENSP00000482571 AGPAT9 434 Glycerol-3-phosphate acyltransferase 3; May transfer the acyl-group from acyl-coA to the sn-1 position of glycerol-3-phosphate, an essential step in glycerolipid biosynthesis. Also transfers the acyl-group from acyl-coA to the sn-2 position of 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid, or LPA), forming 1,2-diacyl-sn-glycerol-3- phosphate (phosphatidic acid, or PA) 9606.ENSP00000482579 ZMYM1 1142 Zinc finger MYM-type containing 1 9606.ENSP00000482581 TWIST2 160 Twist-related protein 2; Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors; Basic helix-loop-helix proteins 9606.ENSP00000482590 TBC1D3F 549 TBC1 domain family member 3F; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000482599 METTL23 190 Methyltransferase-like protein 23; Probable methyltransferase 9606.ENSP00000482600 GCNT7 429 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7; Glycosyltransferase; Glucosaminyl transferases/xylosyltransferases 9606.ENSP00000482604 HSH2D 352 Hematopoietic SH2 domain-containing protein; May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter; SH2 domain containing 9606.ENSP00000482607 ZNF322 402 Zinc finger protein 322; Involved in transcriptional regulation as an activator; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000482609 PEX12 359 Peroxisome assembly protein 12; Required for protein import into peroxisomes; Peroxins 9606.ENSP00000482613 HMGN3 130 High mobility group nucleosomal binding domain 3 9606.ENSP00000482620 RAB11FIP4 637 Rab11 family-interacting protein 4; Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6; EF-hand domain containing 9606.ENSP00000482630 TBC1D3H 549 TBC1 domain family member 3H; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000482632 ZNF501 271 Zinc finger protein 501; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000482639 MGST2 147 Microsomal glutathione S-transferase 2; Can catalyze the production of LTC4 from LTA4 and reduced glutathione. Can catalyze the conjugation of 1-chloro-2,4- dinitrobenzene with reduced glutathione; Microsomal glutathione S-transferases 9606.ENSP00000482657 MAP3K14 947 Mitogen-activated protein kinase kinase kinase 14; Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Promotes proteolytic processing of NFKB2/P100, which leads to activation of NF-kappa-B via the non- canonical pathway. Could act in a receptor-selective manner; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily 9606.ENSP00000482674 HIST1H2BB 126 Histone H2B type 1-B; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000482704 DHRS11 260 Dehydrogenase/reductase SDR family member 11; Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta-hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3-hydroxyl metabolites. Exhibits reductive 3-beta-hydroxysteroid dehydrogenase activity toward 5-beta-androstanes, 5-beta- pregnanes, 4-pregnenes and bile acids. May also reduce endogenous and exogenous alpha-dicarbonyl compounds and xenobiotic alicyclic ketones; Belongs to the short-chain dehydrogenases/reductase [...] 9606.ENSP00000482705 ALG1L 207 Putative glycosyltransferase ALG1-like; Putative glycosyltransferase; Glycosyl transferases group 1 domain containing 9606.ENSP00000482732 PTPN9 593 Tyrosine-protein phosphatase non-receptor type 9; Protein-tyrosine phosphatase that could participate in the transfer of hydrophobic ligands or in functions of the Golgi apparatus; Belongs to the protein-tyrosine phosphatase family. Non-receptor class 3 subfamily 9606.ENSP00000482743 TPSB2 275 Tryptase beta 2; Belongs to the peptidase S1 family 9606.ENSP00000482749 ZNF227 799 Zinc finger protein 227; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000482753 C9orf72 481 Guanine nucleotide exchange C9orf72; Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation. The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity. Positively [...] 9606.ENSP00000482760 PCSK6 969 Proprotein convertase subtilisin/kexin type 6; Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues; Proprotein convertase subtilisin/kexin family 9606.ENSP00000482767 LARP4B 738 La-related protein 4B; Stimulates mRNA translation; La ribonucleoprotein domain containing 9606.ENSP00000482786 FTCDNL1 147 Formiminotransferase cyclodeaminase N-terminal like 9606.ENSP00000482801 MILR1 343 Allergin-1; Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE- mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction (By similarity) 9606.ENSP00000482816 CRYA1 173 Alpha-crystallin A chain; Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions; Small heat shock proteins 9606.ENSP00000482819 ZNF343 640 Zinc finger protein 343; May be involved in transcriptional regulation; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000482826 NAPB 302 Beta-soluble NSF attachment protein; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus 9606.ENSP00000482829 hCG_401294 783 annotation not available 9606.ENSP00000482835 AP2B1 951 AP-2 complex subunit beta; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold bu [...] 9606.ENSP00000482841 CRABP2 138 Cellular retinoic acid-binding protein 2; Transports retinoic acid to the nucleus. Regulates the access of retinoic acid to the nuclear retinoic acid receptors; Fatty acid binding protein family 9606.ENSP00000482855 ENSG00000278198 120 annotation not available 9606.ENSP00000482885 PTPRQ 2299 Phosphatidylinositol phosphatase PTPRQ; Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unc [...] 9606.ENSP00000482899 PAMR1 737 Inactive serine protease PAMR1; May play a role in regeneration of skeletal muscle; Belongs to the peptidase S1 family 9606.ENSP00000482907 PPIP5K2 1278 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2; Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis- diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylat [...] 9606.ENSP00000482925 LOC729159 341 Putative UPF0607 protein ENSP00000381418 ; Belongs to the UPF0607 family 9606.ENSP00000482950 DOC2B 412 Double C2-like domain-containing protein beta; Calcium sensor which positively regulates SNARE- dependent fusion of vesicles with membranes. Binds phospholipids in a calcium-dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium-triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membr [...] 9606.ENSP00000482954 PRLR 622 Prolactin receptor; This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling 9606.ENSP00000482957 FAM65B 1068 Rho family-interacting cell polarization regulator 2; Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization. Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration. Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maint [...] 9606.ENSP00000482968 ALMS1 4168 Alstrom syndrome protein 1; Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells 9606.ENSP00000482994 ENSG00000275765 110 Uncharacterized protein LOC100652758 9606.ENSP00000483005 TRIM52 297 Tripartite motif containing 52; Ring finger proteins 9606.ENSP00000483018 ABO 373 Histo-blood group ABO system transferase; This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity 9606.ENSP00000483038 SLC2A11 535 Solute carrier family 2, facilitated glucose transporter member 11; Facilitative glucose transporter; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily 9606.ENSP00000483047 C3orf27 149 Protein GR6; Chromosome 3 open reading frame 27 9606.ENSP00000483056 ELK1 428 ETS domain-containing protein Elk-1; Transcription factor that binds to purine-rich DNA sequences. Forms a ternary complex with SRF and the ETS and SRF motifs of the serum response element (SRE) on the promoter region of immediate early genes such as FOS and IER2. Induces target gene transcription upon JNK-signaling pathway stimulation (By similarity) 9606.ENSP00000483059 NR2C2 615 Nuclear receptor subfamily 2 group C member 2; Orphan nuclear receptor that can act as a repressor or activator of transcription. An important repressor of nuclear receptor signaling pathways such as retinoic acid receptor, retinoid X, vitamin D3 receptor, thyroid hormone receptor and estrogen receptor pathways. May regulate gene expression during the late phase of spermatogenesis. Together with NR2C1, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription including that of GATA1. Binds to hormone response element [...] 9606.ENSP00000483077 ZNF74 644 Zinc finger protein 74; May play a role in RNA metabolism; Belongs to the krueppel C2H2-type zinc-finger protein family 9606.ENSP00000483089 SMIM11B 68 Small integral membrane protein 11 9606.ENSP00000483092 KIAA0125 136 KIAA0125 9606.ENSP00000483103 339010 581 Homo sapiens POTE ankyrin domain family, member B-like (LOC102724631), transcript variant 1, mRNA; Belongs to the POTE family 9606.ENSP00000483110 TAC3 121 Tachykinin-3; Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles (By similarity). Is a critical central regulator of gonadal function; Belongs to the tachykinin family 9606.ENSP00000483117 ACD 544 Adrenocortical dysplasia protein homolog; Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodim [...] 9606.ENSP00000483125 PADI6 694 Protein-arginine deiminase type-6; Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo 9606.ENSP00000483134 ZNF865 1059 Zinc finger protein 865; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000483154 FAM71D 422 Protein FAM71D; Family with sequence similarity 71 member D 9606.ENSP00000483228 SMEK2 849 Serine/threonine-protein phosphatase 4 regulatory subunit 3B; Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers 9606.ENSP00000483236 DCAF7 342 DDB1- and CUL4-associated factor 7; Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4- DDB1 E3 ubiquitin-protein ligase complex; Belongs to the WD repeat DCAF7 family 9606.ENSP00000483237 HIST1H2BE 126 Histone H2B type 1-C/E/F/G/I; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000483239 ENSG00000274102 313 Olfactory receptor 4M2; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000483246 TMEM106A 262 Transmembrane protein 106A; Belongs to the TMEM106 family 9606.ENSP00000483254 HNRNPDL 420 Heterogeneous nuclear ribonucleoprotein D-like; Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or [...] 9606.ENSP00000483276 TMEM222 208 Transmembrane protein 222 9606.ENSP00000483280 MAFIP 124 MaFF-interacting protein; Acts as coactivator of MAFF transcriptional activity. Inhibits cell growth and colony-forming efficiency; Belongs to the tektin family 9606.ENSP00000483283 HIST1H3I 136 Histone cluster 1 H3 family member i; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000483300 ACACA 2383 Acetyl-CoA carboxylase 1; Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase 9606.ENSP00000483312 WDR38 315 WD repeat-containing protein 38; WD repeat domain containing 9606.ENSP00000483313 WASF2 498 Wiskott-Aldrich syndrome protein family member 2; Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex; Wiskott-Aldrich Syndrome protein family 9606.ENSP00000483328 POLR2J3 115 DNA-directed RNA polymerase II subunit RPB11-b2; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity) 9606.ENSP00000483333 SKOR2 1015 SKI family transcriptional corepressor 2; Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system; SKI transcriptional corepressors 9606.ENSP00000483345 HDGFRP2 671 Hepatoma-derived growth factor-related protein 2; Involved in cellular growth control, through the regulation of cyclin D1 expression; Belongs to the HDGF family 9606.ENSP00000483356 RIBC2 382 RIB43A domain with coiled-coils 2 9606.ENSP00000483364 TCTN3 607 Tectonic-3; Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway 9606.ENSP00000483375 GALE 348 UDP-glucose 4-epimerase; Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6- phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP- GalNAc when exogenous sources are limited. Both UDP-sugar interconver [...] 9606.ENSP00000483386 RIMBP3 1639 RIMS-binding protein 3A; Component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development. Important for male fertility; Belongs to the RIMBP family 9606.ENSP00000483403 GHR 645 Growth hormone receptor; Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity); Belongs to the type I cytokine receptor family. Type 1 subfamily 9606.ENSP00000483408 RBM26 1009 RNA-binding protein 26; Protein phosphatase 1 regulatory subunits 9606.ENSP00000483415 ENSG00000275163 235 Calcium-activated potassium channel subunit beta-2; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Acts as a negative regulator that confers rapid and complete inactivation of KCNMA1 channel complex. May participate in KCNMA1 inactivation in chromaffin cells of the adrenal gland or in hippocampal CA1 neurons; Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB2 subfamily 9606.ENSP00000483424 MARK1 796 Serine/threonine-protein kinase MARK1; Serine/threonine-protein kinase involved in cell polarity and microtubule dynamics regulation. Phosphorylates DCX, MAP2, MAP4 and MAPT/TAU. Involved in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Also acts as a positive regulator of the Wnt sig [...] 9606.ENSP00000483430 IFI27 122 Interferon alpha-inducible protein 27, mitochondrial; Promotes cell death. Mediates IFN-induced apoptosis characterized by a rapid and robust release of cytochrome C from the mitochondria and activation of BAX and caspases 2, 3, 6, 8 and 9 9606.ENSP00000483453 SYNRG 1314 Synergin gamma; May play a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN). May act by linking the adapter protein complex AP-1 to other proteins 9606.ENSP00000483467 SBK3 359 Uncharacterized serine/threonine-protein kinase SBK3; SH3 domain binding kinase family member 3 9606.ENSP00000483469 GPR179 2367 Probable G-protein coupled receptor 179; Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells; Belongs to the G-protein coupled receptor 3 family 9606.ENSP00000483484 NSA2 260 Ribosome biogenesis protein NSA2 homolog; Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity) 9606.ENSP00000483486 ARFRP1 201 ADP-ribosylation factor-related protein 1; Trans-Golgi-associated GTPase that regulates protein sorting. Controls the targeting of ARL1 and its effector to the trans-Golgi. Required for the lipidation of chylomicrons in the intestine and required for VLDL lipidation in the liver; ARF GTPase family 9606.ENSP00000483489 NTMT1 223 N-terminal Xaa-Pro-Lys N-methyltransferase 1; Distributive alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Gly/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of the exposed alpha-amino group of the Ala, Gly or Ser residue in the [Ala/Gly/Ser]-Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif. Some of the substrates may be primed by METTL11B-mediated monomethylation. Catalyzes the trimethylation of the N-terminal Gly in CENPA (after removal o [...] 9606.ENSP00000483491 OXA1L 495 Mitochondrial inner membrane protein OXA1L; Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria; Belongs to the OXA1/ALB3/YidC family 9606.ENSP00000483494 R3HCC1L 792 Coiled-coil domain-containing protein R3HCC1L; R3H domain and coiled-coil containing 1 like 9606.ENSP00000483495 DDX27 796 Probable ATP-dependent RNA helicase DDX27; Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA; DEAD-box helicases 9606.ENSP00000483507 HAO2 351 Hydroxyacid oxidase 2; Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids; Belongs to the FMN-dependent alpha-hydroxy acid dehydrogenase family 9606.ENSP00000483521 LEPROT 140 Leptin receptor gene-related protein; Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability 9606.ENSP00000483523 NOL4L 680 Nucleolar protein 4 like 9606.ENSP00000483537 C11orf65 313 Uncharacterized protein C11orf65; Chromosome 11 open reading frame 65 9606.ENSP00000483547 MID1IP1 183 Mid1-interacting protein 1; Plays a role in the regulation of lipogenesis in liver. Up-regulates ACACA enzyme activity. Required for efficient lipid biosynthesis, including triacylglycerol, diacylglycerol and phospholipid. Involved in stabilization of microtubules (By similarity); Belongs to the SPOT14 family 9606.ENSP00000483549 RDM1 284 RAD52 motif-containing protein 1; May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA; RNA binding motif containing 9606.ENSP00000483552 FURIN 794 Furin; Furin is likely to represent the ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RX(K/R)R consensus motif; Proprotein convertase subtilisin/kexin family 9606.ENSP00000483562 SALL2 1007 Sal-like protein 2; Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure; Zinc fingers C2H2-type 9606.ENSP00000483570 BTK 693 Tyrosine-protein kinase BTK; Non-receptor tyrosine kinase indispensable for B lymphocyte development, differentiation and signaling. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. After BCR engagement and activation at the plasma membrane, phosphorylates PLCG2 at several sites, igniting the downstream signaling pathway through calcium mobilization, followed by activation of the protein kinase C (PKC) family members. PLCG2 phosphorylation is performed in close cooperation with the adapter protein B-cell linker prote [...] 9606.ENSP00000483599 SPON2 331 Spondin-2; Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. Binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Essential in the initiation of the innate immune response and represents a unique pattern- recognition molecule in the ECM for microbial pathogens (By similarity). Binds bacterial lipopolysaccharide (LPS) 9606.ENSP00000483609 CCL4L1 92 C-C motif chemokine 4-like; Chemokine that induces chemotaxis of cells expressing CCR5 or CCR1. Inhibits HIV replication in peripheral blood monocytes that express CCR5 9606.ENSP00000483621 CABYR 493 Calcium-binding tyrosine phosphorylation-regulated protein; May function as a regulator of both motility- and head- associated functions such as capacitation and the acrosome reaction. Isoform 1 binds calcium in vitro. Isoform 2 and isoform 6 probably bind calcium. Isoform 3 and isoform 5 do not bind calcium in vitro. Isoform 4 probably does not bind calcium 9606.ENSP00000483624 CLECL1 191 C-type lectin-like domain family 1; May function in mediating immune cell-cell interactions. May act as a T-cell costimulatory molecule, enhancing anti-CD3- induced proliferation. May play a role in the interaction of dendritic cells with T-cells and the cells of the adaptive immune response 9606.ENSP00000483631 USP27X 438 Ubiquitin carboxyl-terminal hydrolase 27; Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK- degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity; Ubiquitin specific peptidases 9606.ENSP00000483637 CT45-2 189 Cancer/testis antigen family 45 member A2 9606.ENSP00000483667 CHD1 1710 Chromodomain-helicase-DNA-binding protein 1; ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated wit [...] 9606.ENSP00000483673 GOLGA6L22 810 Golgin subfamily A member 6-like protein 22 ; Belongs to the GOLGA6 family 9606.ENSP00000483688 PSMB3 205 Proteasome subunit beta type-3; Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing prot [...] 9606.ENSP00000483713 KLRF1 231 Killer cell lectin-like receptor subfamily F member 1; Involved in the natural killer (NK)-mediated cytolysis of PHA-induced lymphoblasts; C-type lectin domain containing 9606.ENSP00000483720 ZNF107 852 Zinc finger protein 107; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000483721 ADCYAP1R1 496 Pituitary adenylate cyclase-activating polypeptide type I receptor; This is a receptor for PACAP-27 and PACAP-38. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. May regulate the release of adrenocorticotropin, luteinizing hormone, growth hormone, prolactin, epinephrine, and catecholamine. May play a role in spermatogenesis and sperm motility. Causes smooth muscle relaxation and secretion in the gastrointestinal tract 9606.ENSP00000483729 MTUS2 1379 Microtubule-associated tumor suppressor candidate 2; Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. May regulate the dynamics of microtubules at their growing distal tip; In the C-terminal section; belongs to the MTUS1 family 9606.ENSP00000483732 ICOSL 309 ICOS ligand; Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion; induces also B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co- stimulating memory T-cell function (By similarity); Belongs to the immunoglobulin superfamily. BTN/MOG family 9606.ENSP00000483757 DAOA 153 D-amino acid oxidase activator; Seems to activate D-amino acid oxidase 9606.ENSP00000483764 TRIM64 449 Tripartite motif containing 64; Belongs to the TRIM/RBCC family 9606.ENSP00000483781 CISD3 127 CDGSH iron-sulfur domain-containing protein 3, mitochondrial; CDGSH iron sulfur domain containing; Belongs to the CISD protein family 9606.ENSP00000483786 HPCAL1 193 Hippocalcin-like protein 1; May be involved in the calcium-dependent regulation of rhodopsin phosphorylation; Belongs to the recoverin family 9606.ENSP00000483791 FXYD4 89 FXYD domain containing ion transport regulator 4 9606.ENSP00000483811 GAGE13 117 G antigen 13 9606.ENSP00000483814 NPRL3 569 GATOR complex protein NPRL3; As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway; Belongs to the NPR3 family 9606.ENSP00000483825 IKBKG 487 NF-kappa-B essential modulator; Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Its binding to scaffolding polyubiquitin seems to play a role in IKK activation by multiple signaling receptor pathways. However, the specific type of polyubiquitin recognized upon cell stimulation (either 'Lys-63'- linked or linear polyubiquitin) and its functional importance is reported conflictingly. Also considered to be a mediator for TAX activat [...] 9606.ENSP00000483842 HIST1H2AB 130 Histone H2A type 1-B/E; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000483872 TSPAN33 283 Tetraspanin-33; Plays an important role in normal erythropoiesis (By similarity). It has a role in the differentiation of erythroid progenitors (By similarity). Regulates maturation and trafficking of the transmembrane metalloprotease ADAM10. Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity; Belongs to the tetraspanin (TM4SF) family 9606.ENSP00000483879 XKR5 686 XK-related protein 5; XK related family; Belongs to the XK family 9606.ENSP00000483897 LYZL6 148 Lysozyme-like protein 6; May be involved sperm-egg plasma membrane adhesion and fusion during fertilization. Exhibits bacteriolytic activity in vitro against Micrococcus luteus and Staphylococcus aureus. Shows weak bacteriolytic activity against Gram-positive bacteria at physiological pH. Bacteriolytic activity is pH- dependent, with a maximum at around pH 5.6; Lysozymes, c-type 9606.ENSP00000483903 HIST1H2BN 126 Histone H2B type 1-N; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000483921 SSBP2 369 Single stranded DNA binding protein 2 9606.ENSP00000483930 FAM200B 657 Protein FAM200B; Family with sequence similarity 200 member B; Belongs to the FAM200 family 9606.ENSP00000483936 SYTL3 610 Synaptotagmin-like protein 3; May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids in the presence of calcium ions (By similarity); Synaptotagmin like tandem C2 proteins 9606.ENSP00000483946 PHF19 599 PHD finger protein 19; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Probably involved in the transition from an active state to a repressed state in embryonic stem cells: acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting H3K36me3 histone demethylases RIOX1 or KDM2B, leading to demethylation of H3K36 and recruitment of the PRC2 complex that mediates H3K27me3 methylation, followed by de novo silencing. Recruits the PRC2 complex to CpG islands and contributes to embryonic stem c [...] 9606.ENSP00000483965 ENSG00000278599 549 TBC1 domain family member 3E; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000483981 TCEB3CL2 546 Elongin-A3 member D; SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex) 9606.ENSP00000483985 CD24 80 Signal transducer CD24; May have a pivotal role in cell differentiation of different cell types. Signaling could be triggered by the binding of a lectin-like ligand to the CD24 carbohydrates, and transduced by the release of second messengers derived from the GPI-anchor. Modulates B-cell activation responses. Promotes AG-dependent proliferation of B-cells, and prevents their terminal differentiation into antibody-forming cells. In association with SIGLEC10 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, [...] 9606.ENSP00000484042 ENSG00000260300 175 Uncharacterized protein 9606.ENSP00000484056 ZCCHC3 403 Zinc finger CCHC-type containing 3 9606.ENSP00000484060 PACSIN1 444 Protein kinase C and casein kinase substrate in neurons protein 1; Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching [...] 9606.ENSP00000484075 ENSG00000275249 313 annotation not available 9606.ENSP00000484078 CCL15 113 C-C motif chemokine 15; Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the small-inducible cytokine A15; Belongs to the intercrine beta (chemokine CC) family 9606.ENSP00000484095 HIST1H3F 136 Histone cluster 1 H3 family member f; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000484105 PRIM2 509 DNA primase large subunit; DNA primase is the polymerase that synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication 9606.ENSP00000484121 ARFIP2 374 Arfaptin-2; Putative target protein of ADP-ribosylation factor. Involved in membrane ruffling; Classical BAR domain containing 9606.ENSP00000484135 COLCA2 251 Colorectal cancer associated 2 9606.ENSP00000484144 ENSG00000273637 321 annotation not available 9606.ENSP00000484146 SEMA3B 749 Semaphorin-3B; Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons; Belongs to the semaphorin family 9606.ENSP00000484176 CLEC18A 446 C-type lectin domain family 18 member A; Binds polysaccharides in a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans; C-type lectin domain containing 9606.ENSP00000484181 TBC1D3K 549 TBC1 domain family member 3K; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000484228 ATRAID 284 All-trans retinoic acid-induced differentiation factor; Promotes osteoblast cell differentiation and terminal mineralization. Plays a role in inducing the cell cycle arrest via inhibiting CCND1 expression in all-trans-retinoic acid (ATRA) signal pathway 9606.ENSP00000484237 PRAMEF7 474 PRAME family member 7; Belongs to the PRAME family 9606.ENSP00000484252 TSGA10IP 556 Testis specific 10 interacting protein 9606.ENSP00000484261 H2AFB1 115 Histone H2A-Bbd type 1; Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associat [...] 9606.ENSP00000484263 TMEM114 223 Transmembrane protein 114 9606.ENSP00000484288 LIG4 911 DNA ligase 4; Efficiently joins single-strand breaks in a double- stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA- dependent protein kinase complex DNA-PK to these DNA ends 9606.ENSP00000484331 MREG 214 Melanoregulin; Plays a role in the incorporation of pigments into hair. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity) 9606.ENSP00000484342 NEB 8560 Nebulin 9606.ENSP00000484343 SERPINB6 395 Serpin B6; May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss; Deafness associated genes 9606.ENSP00000484398 SMTN 1002 Smoothelin; Structural protein of the cytoskeleton; Belongs to the smoothelin family 9606.ENSP00000484403 TPTE 551 Putative tyrosine-protein phosphatase TPTE; Could be involved in signal transduction; C2 tensin-type domain containing 9606.ENSP00000484411 HOXA3 443 Homeobox protein Hox-A3; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis; HOXL subclass homeoboxes 9606.ENSP00000484415 NT5C3A 336 Cytosolic 5'-nucleotidase 3A; Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP). CMP seems to be the preferred substrate; Belongs to the pyrimidine 5'-nucleotidase family 9606.ENSP00000484431 CD48 252 CD48 antigen; Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation 9606.ENSP00000484443 NEK3 506 Serine/threonine-protein kinase Nek3; Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules. Regulates microtubule acetylation in neurons. Contributes to prolactin- mediated phosphorylation of PXN and VAV2. Implicated in prolactin- mediated cytoskeletal reorganization and motility of breast cancer cells through mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2; Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily 9606.ENSP00000484472 EPPK1 5088 Epiplakin; Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress. In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture. However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epitheliu [...] 9606.ENSP00000484479 IFNA5 189 Interferon alpha-5; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase; Interferons 9606.ENSP00000484492 C8orf59 100 Uncharacterized protein C8orf59; Chromosome 8 open reading frame 59 9606.ENSP00000484497 OVCH2 565 Ovochymase-2; Ovochymase 2 9606.ENSP00000484525 CTDP1 961 RNA polymerase II subunit A C-terminal domain phosphatase; Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation; CTD family phosphatases 9606.ENSP00000484532 MIS12 205 Protein MIS12 homolog; Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis. Essential for proper kinetochore microtubule attachments 9606.ENSP00000484537 ENSG00000275217 215 annotation not available 9606.ENSP00000484552 GJA5 358 Gap junction alpha-5 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell 9606.ENSP00000484556 TBC1D3B 549 TBC1 domain family member 3B; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) 9606.ENSP00000484580 PPP1R2 205 Protein phosphatase inhibitor 2; Inhibitor of protein-phosphatase 1 9606.ENSP00000484592 GLYAT 296 Glycine N-acyltransferase; Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylglycines, with a preference for benzoyl-CoA over phenylacetyl-CoA as acyl donors. Thereby detoxify xenobiotics, such as benzoic acid or salicylic acid, and endogenous organic acids, such as isovaleric acid 9606.ENSP00000484596 LOC389831 120 Homo sapiens uncharacterized LOC389831 (LOC389831), mRNA 9606.ENSP00000484597 LOC158434 107 Uncharacterized protein LOC158434 9606.ENSP00000484601 CT45A10 189 Cancer/testis antigen family 45 member A5 9606.ENSP00000484615 OBP2B 170 Odorant-binding protein 2b; Probably binds and transports small hydrophobic volatile molecules; Belongs to the calycin superfamily. Lipocalin family 9606.ENSP00000484618 APELA 54 Apelin receptor early endogenous ligand; Hormone required for endoderm differentiation and heart morphogenesis during early development and for the adult cardiovascular system development by acting as a ligand for the apelin receptor (APLNR). Drives internalization of the apelin receptor. Acts as a motogen by promoting endoderm and mesendoderm cell migration during gastrulation by binding and activating the apelin receptor (By similarity); Belongs to the Elabela/Toddler family 9606.ENSP00000484631 PMP22 160 Peripheral myelin protein 22; Might be involved in growth regulation, and in myelinization in the peripheral nervous system; Belongs to the PMP-22/EMP/MP20 family 9606.ENSP00000484634 LRRC6 466 Protein tilB homolog; May play a role in dynein arm assembly, hence essential for proper axoneme building for cilia motility 9606.ENSP00000484638 HIST1H3G 136 Histone cluster 1 H3 family member g; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000484640 B3GNT6 384 Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive organs 9606.ENSP00000484645 NXF2B 626 Nuclear RNA export factor 2B; Involved in the export of mRNA from the nucleus to the cytoplasm 9606.ENSP00000484656 MDFIC 355 MyoD family inhibitor domain-containing protein; Acts as a transcriptional activator or repressor. Inhibits the transcriptional activation of Zic family proteins ZIC1, ZIC2 and ZIC3. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm. Modulates the expression from both cellular and viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin- beta. Also stimulates activation of human [...] 9606.ENSP00000484658 HIST1H3C 136 Histone cluster 1 H3 family member c; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000484668 GAGE1 117 G antigen 1; Belongs to the GAGE family 9606.ENSP00000484669 CPSF1 1443 Cleavage and polyadenylation specificity factor subunit 1; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre- mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction 9606.ENSP00000484687 ZNHIT3 155 Zinc finger HIT-type containing 3 9606.ENSP00000484689 IFITM2 132 Interferon-induced transmembrane protein 2; IFN-induced antiviral protein which inhibits the entry of viruses to the host cell cytoplasm, permitting endocytosis, but preventing subsequent viral fusion and release of viral contents into the cytosol. Active against multiple viruses, including influenza A virus, SARS coronavirus (SARS-CoV), Marburg virus (MARV), Ebola virus (EBOV), Dengue virus (DNV), West Nile virus (WNV), human immunodeficiency virus type 1 (HIV-1) and vesicular stomatitis virus (VSV). Can inhibit: influenza virus hemagglutinin protein-mediated viral entry, MARV and EBO [...] 9606.ENSP00000484693 ENSG00000278633 429 annotation not available 9606.ENSP00000484710 C17orf96 379 Elongin BC and Polycomb repressive complex 2-associated protein; Scaffold protein that serves as a bridging partner between the PRC2/EED-EZH2 complex and the elongin BC complex: required to fine-tune the transcriptional status of Polycomb group (PcG) target genes in embryonic stem cells (ESCs). Plays a key role in genomic regions that display both active and repressive chromatin properties in pluripotent stem cells by sustaining low level expression at PcG target genes: acts by recruiting the elongin BC complex, thereby restricting excessive activity of the PRC2/EED-EZH2 complex. Inter [...] 9606.ENSP00000484713 KIAA1033 1174 WASH complex subunit 4; Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting 9606.ENSP00000484715 SRCIN1 1183 SRC kinase signaling inhibitor 1; Acts as a negative regulator of SRC by activating CSK which inhibits SRC activity and downstream signaling, leading to impaired cell spreading and migration. Regulates dendritic spine morphology. Involved in calcium-dependent exocytosis. May play a role in neurotransmitter release or synapse maintenance 9606.ENSP00000484732 GATSL2 329 Cytosolic arginine sensor for mTORC1 subunit 2; Functions as a negative regulator of the TORC1 signaling pathway through the GATOR complex. As part of homodimers or heterodimers with CASTOR1, directly binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Does not directly bind arginine, but binding of arginine to CASTOR1 disrupts the interaction of CASTOR2-containing heterodimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway; Belongs to the GATS family 9606.ENSP00000484751 C8orf87 101 Uncharacterized protein C8orf87; Chromosome 8 open reading frame 87 9606.ENSP00000484789 HIST1H4E 103 Histone H4; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000484803 FOXP1 693 Forkhead box protein P1; Transcriptional repressor. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of s [...] 9606.ENSP00000484804 ARMC9 818 LisH domain-containing protein ARMC9; Armadillo repeat containing 9 9606.ENSP00000484807 SPATA31A7 1347 Spermatogenesis-associated protein 31A7; May play a role in spermatogenesis 9606.ENSP00000484824 MUC1 484 Mucin-1; The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack; CD molecules 9606.ENSP00000484841 HIST1H3B 136 Histone H3.1; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling 9606.ENSP00000484852 ZNF283 679 Zinc finger protein 283; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000484855 EXOC5 708 Exocyst complex component 5; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane 9606.ENSP00000484862 ADAM29 820 Disintegrin and metalloproteinase domain-containing protein 29; May be involved in spermatogenesis and fertilization. Seems to be a non catalytic metalloprotease-like protein; ADAM metallopeptidase domain containing 9606.ENSP00000484875 FOXD4L6 417 Forkhead box D4 like 6 9606.ENSP00000484883 C10orf126 172 Putative uncharacterized protein C10orf126; Chromosome 10 open reading frame 126 9606.ENSP00000484887 NUTM2D 877 NUT family member 2D; Belongs to the NUT family 9606.ENSP00000484893 PIGBOS1 54 Protein PIGBOS1; PIGB opposite strand 1 9606.ENSP00000484903 MRPL45 306 Mitochondrial ribosomal protein L45 9606.ENSP00000484912 CAPS 189 Calcyphosin; Calcium-binding protein. May play a role in cellular signaling events (Potential); EF-hand domain containing 9606.ENSP00000484918 ENSG00000278704 75 annotation not available 9606.ENSP00000484928 CDH4 916 Cadherin-4; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May play an important role in retinal development 9606.ENSP00000484931 ZSCAN26 344 Zinc finger and SCAN domain-containing protein 26; May be involved in transcriptional regulation; SCAN domain containing 9606.ENSP00000484945 PRAC2 140 PRAC2 small nuclear protein 9606.ENSP00000485010 CIITA 1131 MHC class II transactivator; Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirem [...] 9606.ENSP00000485022 U2AF35 240 Splicing factor U2AF 35 kDa subunit; Plays a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron; RNA binding motif containing 9606.ENSP00000485028 MUC13 512 Mucin-13; Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling; Mucins 9606.ENSP00000485031 DEFB133 61 Beta-defensin 133; Has antibacterial activity; Defensins, beta 9606.ENSP00000485032 OR10C1 312 Olfactory receptor 10C1; Odorant receptor; Olfactory receptors, family 10 9606.ENSP00000485038 ENSG00000279849 124 annotation not available 9606.ENSP00000485039 ENSG00000279487 101 annotation not available 9606.ENSP00000485043 ENSG00000279508 210 annotation not available 9606.ENSP00000485049 ENSG00000280221 128 Synaptotagmin-like protein 2 9606.ENSP00000485051 C14orf182 107 Chromosome 14 open reading frame 182 9606.ENSP00000485053 ENSG00000280178 249 PP13850 9606.ENSP00000485056 ENSG00000279214 82 Connexin; HCG2031517 9606.ENSP00000485059 ENSG00000280174 139 Uncharacterized protein 9606.ENSP00000485061 SLC27A3 730 Long-chain fatty acid transport protein 3; Has acyl-CoA ligase activity for long-chain and very- long-chain fatty acids. Does not exhibit fatty acid transport activity (By similarity); Acyl-CoA synthetase family 9606.ENSP00000485066 OR2S2 319 Olfactory receptor 2S2; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000485072 ENSG00000280130 126 Uncharacterized protein 9606.ENSP00000485074 ENSG00000279983 35 annotation not available 9606.ENSP00000485075 ERVK-10 75 Endogenous retrovirus group K member 10 Np9 protein; May possess a function in tumorigenesis 9606.ENSP00000485076 ENSG00000279530 118 HCG2014696; PRO1454 9606.ENSP00000485077 ENSG00000280188 82 annotation not available 9606.ENSP00000485078 OR52B4 314 Olfactory receptor 52B4; Odorant receptor; Olfactory receptors, family 52 9606.ENSP00000485082 ENSG00000279119 121 NS5ATP13TP1; Uncharacterized protein 9606.ENSP00000485085 ENSG00000278919 198 annotation not available 9606.ENSP00000485088 ENSG00000279018 190 annotation not available 9606.ENSP00000485090 ENSG00000280175 227 annotation not available 9606.ENSP00000485097 TRIM49D2P 452 Tripartite motif containing 49D2, pseudogene; Belongs to the TRIM/RBCC family 9606.ENSP00000485105 ENSG00000279362 306 Polycystic kidney disease protein 1-like 2; May function as an ion-channel regulator. May function as a G-protein-coupled receptor; C-type lectin domain containing 9606.ENSP00000485108 UBTFL1 393 Upstream-binding factor 1-like protein 1; Essential for proliferation of the inner cell mass and trophectodermal cells in peri-implantation development 9606.ENSP00000485115 ENSG00000279342 67 annotation not available 9606.ENSP00000485118 SPATA31A3 1347 Spermatogenesis-associated protein 31A3; May play a role in spermatogenesis 9606.ENSP00000485122 ENSG00000279261 182 HCG1985569; Putative uncharacterized protein PP2672 9606.ENSP00000485125 KCNE1B 132 annotation not available 9606.ENSP00000485133 ENSG00000279392 154 Ubiquitin-conjugating enzyme E2 L3; Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine: in contrast, it has activity with the RBR family E3 enzymes, such as PRKN and ARIH1, that function like function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'-linked polyubiquitination. Involved in the [...] 9606.ENSP00000485134 ENSG00000280041 124 annotation not available 9606.ENSP00000485140 AGAP14 685 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 14; Putative GTPase-activating protein 9606.ENSP00000485141 DEFB131B 70 Beta-defensin 131B; Has antibacterial activity 9606.ENSP00000485142 ENSG00000280108 62 annotation not available 9606.ENSP00000485143 ENSG00000279777 124 annotation not available 9606.ENSP00000485146 ENSG00000279232 173 HCG2016541; Putative uncharacterized protein DKFZp434P228 9606.ENSP00000485147 ENSG00000279183 124 annotation not available 9606.ENSP00000485150 OR11H2 326 Olfactory receptor 11H2; Odorant receptor; Olfactory receptors, family 11 9606.ENSP00000485157 ENSG00000280360 46 HCG1990398; PNAS-19 9606.ENSP00000485158 ENSG00000280230 124 annotation not available 9606.ENSP00000485161 ENSG00000280315 60 Uncharacterized protein 9606.ENSP00000485164 ENSG00000280308 124 annotation not available 9606.ENSP00000485166 ENSG00000280080 177 annotation not available 9606.ENSP00000485172 PC1L2 1757 Polycystic kidney disease protein 1-like 2; May function as an ion-channel regulator. May function as a G-protein-coupled receptor; Belongs to the polycystin family 9606.ENSP00000485176 ENSG00000280298 124 annotation not available 9606.ENSP00000485180 ENSG00000279816 120 annotation not available 9606.ENSP00000485185 BAGE5 39 B melanoma antigen 2; Unknown. Candidate gene encoding tumor antigens; Belongs to the BAGE family 9606.ENSP00000485186 ENSG00000280113 127 annotation not available 9606.ENSP00000485187 ENSG00000279986 101 annotation not available 9606.ENSP00000485189 ENSG00000279291 126 Uncharacterized protein 9606.ENSP00000485191 OR4X2 303 Olfactory receptor 4X2; Odorant receptor; Olfactory receptors, family 4 9606.ENSP00000485193 ZNF735P 568 Zinc finger protein 735, pseudogene 9606.ENSP00000485194 ENSG00000279316 165 Chromosome 15 open reading frame 32 9606.ENSP00000485196 ENSG00000280427 300 annotation not available 9606.ENSP00000485197 ENSG00000279963 21 annotation not available 9606.ENSP00000485198 ENSG00000280098 42 annotation not available 9606.ENSP00000485206 PPIAL4B 164 Peptidyl-prolyl cis-trans isomerase A-like 4A; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity) 9606.ENSP00000485212 OR8B4 309 Olfactory receptor 8B4; Odorant receptor; Olfactory receptors, family 8 9606.ENSP00000485213 ENSG00000279850 31 annotation not available 9606.ENSP00000485216 LINC00116 138 Uncharacterized protein encoded by LINC00116; Long intergenic non-protein coding RNA 116 9606.ENSP00000485225 ENSG00000279317 107 annotation not available 9606.ENSP00000485226 ERVK-24 75 Endogenous retrovirus group K member 24 Np9 protein; May possess a function in tumorigenesis 9606.ENSP00000485227 ENSG00000278881 157 Uncharacterized protein UNQ6126/PRO20091 9606.ENSP00000485230 SPDYE6 402 speedy/RINGO cell cycle regulator family member E6 9606.ENSP00000485232 ENSG00000280184 201 annotation not available 9606.ENSP00000485235 ENSG00000278899 182 annotation not available 9606.ENSP00000485237 ENSG00000279380 36 HCG2022850; PRO2591 9606.ENSP00000485241 ENSG00000278966 124 annotation not available 9606.ENSP00000485243 USP17L4 530 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4; Ubiquitin specific peptidase 17-like family member 4 9606.ENSP00000485249 ENSG00000279654 124 annotation not available 9606.ENSP00000485257 ENSG00000279745 98 annotation not available 9606.ENSP00000485258 PRAMEF25 478 PRAME family member 25 9606.ENSP00000485259 ENSG00000278882 236 annotation not available 9606.ENSP00000485260 ENSG00000279402 66 Chromosome 4 open reading frame 3 9606.ENSP00000485261 ENSG00000279533 124 annotation not available 9606.ENSP00000485262 ENSG00000279859 135 Uncharacterized protein 9606.ENSP00000485267 ENSG00000279386 51 FGF-2 activity-associated protein 3; HCG2027030 9606.ENSP00000485271 ENSG00000279168 160 annotation not available 9606.ENSP00000485273 ENSG00000279219 112 annotation not available 9606.ENSP00000485283 ENSG00000279461 25 annotation not available 9606.ENSP00000485284 ENSG00000278951 26 annotation not available 9606.ENSP00000485285 ENSG00000280151 124 annotation not available 9606.ENSP00000485293 ENSG00000279916 22 annotation not available 9606.ENSP00000485301 ENSG00000279588 174 annotation not available 9606.ENSP00000485306 USP17L8 530 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8; Ubiquitin specific peptidase 17-like family member 8 9606.ENSP00000485307 ENSG00000279538 91 annotation not available 9606.ENSP00000485310 ENSG00000279768 24 Uncharacterized protein 9606.ENSP00000485311 ENSG00000279152 133 annotation not available 9606.ENSP00000485316 LINC00493 95 Small integral membrane protein 26; Long intergenic non-protein coding RNA 493 9606.ENSP00000485323 USP17L3 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 3; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000485326 OR2AG1 316 Olfactory receptor 2AG1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000485328 ENSG00000280260 88 Uncharacterized protein 9606.ENSP00000485331 ENSG00000279468 140 HCG1787699; Uncharacterized protein 9606.ENSP00000485336 ENSG00000279229 64 Uncharacterized protein 9606.ENSP00000485337 USP17L7 530 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7; Ubiquitin specific peptidase 17-like family member 7 9606.ENSP00000485338 ENSG00000279471 31 annotation not available 9606.ENSP00000485342 ENSG00000280297 122 annotation not available 9606.ENSP00000485343 ENSG00000280170 124 annotation not available 9606.ENSP00000485345 ENSG00000278883 50 Protein APCDD1 9606.ENSP00000485356 ENSG00000280127 124 annotation not available 9606.ENSP00000485357 HMCN2 5059 Hemicentin-2; Immunoglobulin like domain containing; Fibulins 9606.ENSP00000485358 ENSG00000278923 62 annotation not available 9606.ENSP00000485364 USP17L1P 530 Ubiquitin carboxyl-terminal hydrolase 17-like protein 1; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection 9606.ENSP00000485366 ENSG00000279132 169 Protein FAM231A; Family with sequence similarity 231, member A; Belongs to the FAM231 family 9606.ENSP00000485370 FAM25HP 89 Protein FAM25A; Family with sequence similarity 25, member H pseudogene; Belongs to the FAM25 family 9606.ENSP00000485374 ENSG00000279007 124 annotation not available 9606.ENSP00000485377 ENSG00000279068 46 annotation not available 9606.ENSP00000485378 ENSG00000248167 503 Ribonuclease P protein subunit p21; TRIM39-RPP21 readthrough 9606.ENSP00000485379 ENSG00000279644 136 annotation not available 9606.ENSP00000485381 ENSG00000279824 137 annotation not available 9606.ENSP00000485383 ENSG00000278938 124 annotation not available 9606.ENSP00000485396 ENSG00000279576 57 Metastasis-associated lung adenocarcinoma transcript 1 9606.ENSP00000485398 SPDYE5 402 speedy/RINGO cell cycle regulator family member E5 9606.ENSP00000485399 C11orf44 122 Uncharacterized protein C11orf44; Chromosome 11 open reading frame 44 9606.ENSP00000485401 UQCRHL 91 Cytochrome b-c1 complex subunit 6-like, mitochondrial; May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1 9606.ENSP00000485405 ENSG00000279473 178 Uncharacterized protein 9606.ENSP00000485411 ENSG00000279096 190 HCG1780467; PRO0529; Uncharacterized protein 9606.ENSP00000485422 ENSG00000279735 138 annotation not available 9606.ENSP00000485424 OR5AR1 310 Olfactory receptor 5AR1; Odorant receptor; Olfactory receptors, family 5 9606.ENSP00000485435 ENSG00000280403 124 annotation not available 9606.ENSP00000485440 ENSG00000278939 25 annotation not available 9606.ENSP00000485442 WASH2P 464 WAS protein family homolog 2; Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Involved in endocytic trafficking of EGF. Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and invo [...] 9606.ENSP00000485444 PRSS3P2 261 Trypsin-2; In the ileum, may be involved in defensin processing, including DEFA5; Belongs to the peptidase S1 family 9606.ENSP00000485447 ENSG00000280141 124 annotation not available 9606.ENSP00000485448 ZNF727P 499 Putative zinc finger protein 727; May be involved in transcriptional regulation 9606.ENSP00000485450 HNRNPCL2 293 Heterogeneous nuclear ribonucleoprotein C-like 3; May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs 9606.ENSP00000485451 ENSG00000279374 44 Uncharacterized protein 9606.ENSP00000485452 DUX4L8 424 Double homeodomain protein DUX4-s; PRD class homeoboxes and pseudogenes 9606.ENSP00000485453 ENSG00000280447 124 annotation not available 9606.ENSP00000485454 ENSG00000280264 124 annotation not available 9606.ENSP00000485456 ENSG00000279524 124 annotation not available 9606.ENSP00000485457 ENSG00000279928 133 annotation not available 9606.ENSP00000485458 ENSG00000279346 137 annotation not available 9606.ENSP00000485463 ENSG00000279813 167 annotation not available 9606.ENSP00000485467 ENSG00000205457 124 TP53 target 3C; May play a significant role in p53/TP53-mediating signaling pathway 9606.ENSP00000485473 PRAMEF18 481 PRAME family member 18; Belongs to the PRAME family 9606.ENSP00000485475 C7orf65 151 Uncharacterized protein C7orf65; Chromosome 7 open reading frame 65 9606.ENSP00000485478 CDHR1 859 Cadherin-related family member 1; Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity); Cadherin related 9606.ENSP00000485481 ENSG00000279131 22 annotation not available 9606.ENSP00000485486 ENSG00000280329 21 annotation not available 9606.ENSP00000485487 FER1L5 2097 Fer-1-like protein 5; Plays a role in myoblast fusion; probable mediator of endocytic recycling for membrane trafficking events during myotube formation; Belongs to the ferlin family 9606.ENSP00000485488 ENSG00000279282 404 annotation not available 9606.ENSP00000485493 C5orf64 130 Uncharacterized protein C5orf64; Chromosome 5 open reading frame 64 9606.ENSP00000485497 ENSG00000278868 56 HCG2032222; PRO2047; Uncharacterized protein 9606.ENSP00000485507 ENSG00000279909 92 Uncharacterized protein 9606.ENSP00000485512 QRFP 136 Orexigenic neuropeptide QRFP; Stimulates feeding behavior, metabolic rate and locomotor activity and increases blood pressure. May have orexigenic activity. May promote aldosterone secretion by the adrenal gland (By similarity); Belongs to the RFamide neuropeptide family 9606.ENSP00000485514 DCHS2 2916 Protocadherin-23; Calcium-dependent cell-adhesion protein; Cadherin related 9606.ENSP00000485520 ENSG00000279515 229 HCG1732469; Putative uncharacterized protein FLJ20019 9606.ENSP00000485524 C8orf89 161 Uncharacterized protein LOC100130301 9606.ENSP00000485525 ADSL 484 Adenylosuccinate lyase; Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate; Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily 9606.ENSP00000485526 RASSF10 507 Ras association domain family member 10 9606.ENSP00000485529 ENSG00000279906 313 annotation not available 9606.ENSP00000485535 OR2F1 317 Olfactory receptor 2F1; Odorant receptor; Olfactory receptors, family 2 9606.ENSP00000485541 MAGEA2 314 Melanoma-associated antigen 2; Reduces p53/TP53 transactivation function through recruitment of HDAC3 to p53/TP53 transcription sites. Also represses p73/TP73 activity. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination by TRIM28 potentially in presence of Ubl-conjugating enzyme UBE2H. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in embryonal d [...] 9606.ENSP00000485548 ENSG00000280112 85 Chromosome 12 open reading frame 79 9606.ENSP00000485552 SAA2-SAA4 208 SAA2-SAA4 readthrough 9606.ENSP00000485556 ENSG00000279921 126 Uncharacterized protein 9606.ENSP00000485558 ENSG00000280240 119 HCG2019237; PP5241 9606.ENSP00000485561 C17orf100 118 Uncharacterized protein C17orf100; Chromosome 17 open reading frame 100 9606.ENSP00000485562 ENSG00000280316 139 annotation not available 9606.ENSP00000485567 ENSG00000279483 25 60S ribosomal protein L41; Interacts with the beta subunit of protein kinase CKII and stimulates phosphorylation of DNA topoisomerase II alpha by CKII; L ribosomal proteins 9606.ENSP00000485568 ENSG00000279109 23 annotation not available 9606.ENSP00000485570 ENSG00000280226 63 annotation not available 9606.ENSP00000485571 ENSG00000279937 60 Uncharacterized protein 9606.ENSP00000485574 ENSG00000280252 126 annotation not available 9606.ENSP00000485576 ENSG00000280006 126 Uncharacterized protein 9606.ENSP00000485579 ENSG00000279546 23 Uncharacterized protein 9606.ENSP00000485582 CERS1 372 Embryonic growth/differentiation factor 1; May mediate cell differentiation events during embryonic development; CERS class homeoboxes 9606.ENSP00000485583 ENSG00000279767 140 annotation not available 9606.ENSP00000485584 SLC35G4P 338 Solute carrier family 35, member G4, pseudogene 9606.ENSP00000485586 NXF2 626 Nuclear RNA export factor 2; Involved in the export of mRNA from the nucleus to the cytoplasm; Belongs to the NXF family 9606.ENSP00000485588 ENSG00000279084 124 annotation not available 9606.ENSP00000485589 ENSG00000261832 360 Battenin isoform d 9606.ENSP00000485591 ENSG00000279216 56 Uncharacterized protein 9606.ENSP00000485594 ENSG00000279448 124 annotation not available 9606.ENSP00000485600 ENSG00000278888 57 annotation not available 9606.ENSP00000485610 ENSG00000279651 119 Chromosome 3 open reading frame 35 9606.ENSP00000485614 ZNF518A 1483 Zinc finger protein 518A; May be involved in transcriptional regulation; Zinc fingers C2H2-type 9606.ENSP00000485615 ENSG00000280433 203 TMEM1 protein 9606.ENSP00000485616 ENSG00000279510 124 annotation not available 9606.ENSP00000485620 ENSG00000279244 92 annotation not available 9606.ENSP00000485627 WASH1 465 WASH complex subunit 1; Acts as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in endocytic trafficking of EGF (By similarity). Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma m [...] 9606.ENSP00000485628 SPATA31A5 1347 Spermatogenesis-associated protein 31A5; May play a role in spermatogenesis 9606.ENSP00000485629 GVQW2 108 Uncharacterized protein LOC100507462 9606.ENSP00000485630 ENSG00000276612 238 annotation not available 9606.ENSP00000485632 ENSG00000279871 139 Uncharacterized protein 9606.ENSP00000485635 ENSG00000278848 124 TP53-target gene 3 protein; May play a significant role in p53/TP53-mediating signaling pathway 9606.ENSP00000485638 ENSG00000279782 164 Peptidyl-prolyl cis-trans isomerase A-like 4E; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity); Belongs to the cyclophilin-type PPIase family. PPIase A subfamily 9606.ENSP00000485639 ENSG00000280034 124 annotation not available 9606.ENSP00000485642 ENSG00000279037 96 Chromosome 12 open reading frame 79 9606.ENSP00000485644 ENSG00000280410 301 annotation not available 9606.ENSP00000485645 ENSG00000279126 124 annotation not available 9606.ENSP00000485656 ENSG00000280267 478 annotation not available 9606.ENSP00000485659 MUC5AC 5654 Mucin-5AC; Gel-forming glycoprotein of gastric and respiratoy tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microrganisms and particles that are subsequently removed by the mucocilary system; Mucins 9606.ENSP00000485663 EIF3L 564 Eukaryotic translation initiation factor 3 subunit L; Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribos [...] 9606.ENSP00000485664 ENSG00000279493 155 annotation not available 9606.ENSP00000485668 ENSG00000279408 316 annotation not available 9606.ENSP00000485671 ENSG00000280273 120 HCG1991042 9606.ENSP00000485672 ENSG00000279458 86 annotation not available 9606.ENSP00000485673 ENSG00000279988 243 annotation not available 9606.ENSP00000485675 ENSG00000280116 84 annotation not available 9606.ENSP00000485678 OR6Q1 317 Olfactory receptor 6Q1; Odorant receptor; Olfactory receptors, family 6