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| | TFAP2D | 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). (452 aa) |
| | TNFRSF1A | Tumor necrosis factor receptor superfamily member 1A, membrane form; 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. (455 aa) |
| | PIGU | 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. (435 aa) |
| | CTSH | Cathepsin H heavy chain; Important for the overall degradation of proteins in lysosomes; Belongs to the peptidase C1 family. (335 aa) |
| | BET1 | 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). (118 aa) |
| | STN1 | 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 [...] (368 aa) |
| | NFKB1 | 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 dime [...] (969 aa) |
| | POLR3B | 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 [...] (1133 aa) |
| | EXOC2 | 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. (924 aa) |
| | SSPN | 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. (243 aa) |
| | MMP24 | Processed 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 m [...] (645 aa) |
| | RALY | 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). (306 aa) |
| | EVI2A | Protein EVI2A; May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor. (259 aa) |
| | KRT5 | Keratin, type II cytoskeletal 5; Keratin 5; Belongs to the intermediate filament family. (590 aa) |
| | USHBP1 | Usher syndrome type-1C protein-binding protein 1; USH1 protein network component harmonin binding protein 1. (703 aa) |
| | GINS2 | 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. (185 aa) |
| | EEFSEC | 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. (596 aa) |
| | BACH2 | 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). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation ; Belongs to the bZI [...] (841 aa) |
| | PCNX2 | Pecanex-like protein 2; May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H). Belongs to the pecanex family. (2137 aa) |
| | HAL | Histidine ammonia-lyase. (657 aa) |
| | HERC2 | 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 oscil [...] (4834 aa) |
| | LMF1 | 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. (567 aa) |
| | RHBDF1 | Inactive rhomboid protein 1; Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. (855 aa) |
| | AXIN1 | 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 l [...] (862 aa) |
| | IL12RB2 | 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. (862 aa) |
| | TYR | 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. (529 aa) |
| | ARID3A | 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. (593 aa) |
| | EIF2AK4 | 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 [...] (1649 aa) |
| | STRN | 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. (780 aa) |
| | MGAT4A | Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A soluble form; 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. (535 aa) |
| | RASGRF2 | 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. (1237 aa) |
| | JDP2 | Jun dimerization protein 2; Component of the AP-1 transcription factor that represses transactivation mediated by the Jun family of proteins. Involved in a variety of transcriptional responses associated with AP-1 such as UV- induced apoptosis, cell differentiation, tumorigenesis and antitumogeneris. Can also function as a repressor by recruiting histone deacetylase 3/HDAC3 to the promoter region of JUN. May control transcription via direct regulation of the modification of histones and the assembly of chromatin. (174 aa) |
| | DEF8 | Differentially expressed in FDCP 8 homolog; Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption. (512 aa) |
| | TP53 | 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. Its pro-apoptotic activity is activated via its intera [...] (393 aa) |
| | GOLPH3L | 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. (285 aa) |
| | KCNH1 | 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. (989 aa) |
| | DGKQ | 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. (942 aa) |
| | EGFR | 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, AREG, 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 at leas [...] (1210 aa) |
| | LRRC4C | Leucine-rich repeat-containing protein 4C; May promote neurite outgrowth of developing thalamic neurons. (640 aa) |
| | GRID2 | 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 sub [...] (1007 aa) |
| | SMC2 | 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. (1197 aa) |
| | KCNMA1 | 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 [...] (1236 aa) |
| | PPARG | 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 [...] (505 aa) |
| | NRG1 | 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 [...] (645 aa) |
| | HBE1 | Hemoglobin subunit epsilon; The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin; Belongs to the globin family. (147 aa) |
| | SLC45A2 | 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. (530 aa) |
| | SPATA48 | Spermatogenesis-associated protein 48; Spermatogenesis associated 48. (438 aa) |
| | ARHGAP42 | Rho GTPase-activating protein 42; May influence blood pressure by functioning as a GTPase- activating protein for RHOA in vascular smooth muscle. (874 aa) |
| | HEATR3 | HEAT repeat containing 3. (680 aa) |
| | EVA1C | Protein eva-1 homolog C; Binds heparin; Belongs to the EVA1 family. (441 aa) |
| | TCP10L | T-complex protein 10A homolog 1; May be involved in transcriptional regulation. Has in vitro transcription inhibition activity. Acts as a tumor suppressor in hepatocellular carcinoma (HCC) cells. (215 aa) |
| | OR51B5 | Olfactory receptor 51B5; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. (312 aa) |
| | OR51Q1 | Olfactory receptor 51Q1; Odorant receptor. (317 aa) |
| | ANKRD11 | 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). (2663 aa) |
| | IL16 | 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. Isoform 3 is involved in cell cycle progression in T-cells. Appears to be involved in transcriptional regulation of SKP2 and is probably part of a transcriptional repression complex on the core promoter of the SKP2 gene. May act as a scaffold for GABPB1 (the DNA- binding subunit the GABP transcription factor complex) and HDAC3 thus maintai [...] (1332 aa) |
| | IL12A | 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. (253 aa) |
| | GRM5 | 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. (1212 aa) |
| | IL7R | 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. (459 aa) |
| | BPTF | 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. (2920 aa) |
| | MLLT10 | Protein AF-10; Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation. (1068 aa) |
| | TERT | 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-nuc [...] (1132 aa) |
| | RMI2 | 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. (147 aa) |
| | PDE7B | 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. (450 aa) |
| | TNS3 | 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); Belongs to the PTEN phosphatase protein family. (1445 aa) |
| | ELMO1 | 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. (727 aa) |
| | PPARGC1B | 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 e [...] (1023 aa) |
| | CLPTM1L | Cleft lip and palate transmembrane protein 1-like protein; Enhances cisplatin-mediated apoptosis, when overexpressed. Belongs to the CLPTM1 family. (538 aa) |
| | ARHGEF4 | 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. (690 aa) |
| | RPTN | Repetin; Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium. (784 aa) |
| | SLC16A8 | 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). (504 aa) |
| | SIAH2 | 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 [...] (324 aa) |
| | LAMA3 | 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. (3333 aa) |
| | CYP2B6 | Cytochrome P450 2B6; A cytochrome P450 monooxygenase involved in the metabolism of endocannabinoids and steroids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH-- hemoprotein reductase). Catalyzes the epoxidation of double bonds of arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15- epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling. Hydroxylates steroid hormon [...] (491 aa) |
| | TMEM39A | Transmembrane protein 39A; Belongs to the TMEM39 family. (488 aa) |
| | RNF166 | E3 ubiquitin-protein ligase RNF166; E3 ubiquitin-protein ligase that promotes the ubiquitination of different substrates. In turn, participates in different biological processes including interferon production or autophagy. Plays a role in the activation of RNA virus-induced interferon-beta production by promoting the ubiquitination of TRAF3 and TRAF6. Plays also a role in the early recruitment of autophagy adapters to bacteria. Mediates 'Lys-29' and 'Lys-33'-linked ubiquitination of SQSTM1 leading to xenophagic targeting of bacteria and inhibition of their replication. (237 aa) |
| | NADSYN1 | Glutamine-dependent NAD(+) synthetase; Catalyzes the ATP-dependent amidation of deamido-NAD to form NAD. Uses L-glutamine as a nitrogen source. (706 aa) |
| | DNMT3B | 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 by [...] (853 aa) |
| | SLC6A17 | 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). (727 aa) |
| | SYNGR1 | 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. (233 aa) |
| | COLEC10 | 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. (277 aa) |
| | ANO9 | 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. Belongs to the anoctamin family. (782 aa) |
| | SMAD3 | 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 m [...] (425 aa) |
| | CACNA1H | Voltage-dependent T-type calcium channel subunit alpha-1H; Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons. In t [...] (2353 aa) |
| | SYNE3 | 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 [...] (975 aa) |
| | OR9Q1 | Olfactory receptor 9Q1; Odorant receptor; Belongs to the G-protein coupled receptor 1 family. (310 aa) |
| | NAB1 | NGFI-A-binding protein 1; Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. (487 aa) |
| | EPB41L1 | 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. (881 aa) |
| | TDP1 | 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 [...] (608 aa) |
| | IL21R | Interleukin-21 receptor; This is a receptor for interleukin-21. (538 aa) |
| | HBG2 | Hemoglobin subunit gamma-2; Gamma chains make up the fetal hemoglobin F, in combination with alpha chains. (147 aa) |
| | SKAP1 | 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. (359 aa) |
| | MAPT | 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 st [...] (776 aa) |
| | CNBD2 | 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. (572 aa) |
| | NEK10 | Serine/threonine-protein kinase Nek10; NIMA related kinase 10; Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. (712 aa) |
| | ABCA2 | 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. (2436 aa) |
| | IKZF3 | 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. (509 aa) |
| | MOCS1 | Cyclic pyranopterin monophosphate synthase; 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 C-terminal section; belongs to the MoaC family. (636 aa) |
| | EPB41 | 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. (864 aa) |
| | SH2B3 | SH2B adapter protein 3; Links T-cell receptor activation signal to phospholipase C- gamma-1, GRB2 and phosphatidylinositol 3-kinase. (575 aa) |
| | FYB2 | 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. (728 aa) |
| | GPX4 | Phospholipid hydroperoxide glutathione peroxidase; Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (By similarity). Can also reduce fatty acid hydroperoxide, cholesterol hydroperoxide and thymine hydroperoxide (By similarity). Plays a key role in protecting cells from oxidative damage by preventing membrane lipid peroxidation (By similarity). Required to prevent cells from ferroptosis, a non-apoptotic cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species. Th [...] (197 aa) |
| | ATG7 | 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 mitochondria [...] (703 aa) |
| | RAC1 | 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, neurons adhesion, migration and differentiation, 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 [...] (211 aa) |
| | RSPO1 | 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 neg [...] (263 aa) |
| | CCDC88B | 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 [...] (1476 aa) |
| | FXR1 | 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. (621 aa) |
| | NF1 | Neurofibromin truncated; Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. (2839 aa) |
| | STAT4 | Signal transducer and activator of transcription 4; Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling. (748 aa) |
| | CASP8 | Caspase-8 subunit p10; 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, CA [...] (538 aa) |
| | TRPV6 | 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 vit [...] (765 aa) |
| | BABAM1 | 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 cl [...] (329 aa) |
| | LDLRAD4 | 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. [...] (306 aa) |
| | RTEL1 | 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 [...] (1300 aa) |
| | RGS22 | 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. (1264 aa) |
| | PPP1R14C | Protein phosphatase 1 regulatory subunit 14C; Inhibitor of the PP1 regulatory subunit PPP1CA. (165 aa) |
| | EXO1 | 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. Es [...] (846 aa) |
| | FGFR1OP | FGFR1 oncogene partner; Required for anchoring microtubules to the centrosomes. Required for ciliation. (399 aa) |
| | DDR2 | Discoidin domain-containing receptor 2; Tyrosine kinase involved in the regulation of tissues remodeling. It 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, MM [...] (855 aa) |
| | MTX1 | Metaxin-1; Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity). (466 aa) |
| | S100A7A | Protein S100-A7A; May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases. (101 aa) |
| | SLC22A16 | 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. (577 aa) |
| | PDE4DIP | Myomegalin; Functions as an anchor sequestering components of the cAMP- dependent pathway to Golgi and/or centrosomes (By similarity). (2362 aa) |
| | MDN1 | 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 [...] (5596 aa) |
| | CD58 | 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. (250 aa) |
| | PLPPR4 | 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. (763 aa) |
| | RAVER2 | Ribonucleoprotein PTB-binding 2; May bind single-stranded nucleic acids. (678 aa) |
| | ANKRD22 | Ankyrin repeat domain 22. (191 aa) |
| | IER5L | Immediate early response 5 like. (404 aa) |
| | CSMD2 | CUB and Sushi multiple domains 2. (3631 aa) |
| | DLGAP4 | 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. (989 aa) |
| | SCAND1 | SCAN domain-containing protein 1; May regulate transcriptional activity. (179 aa) |
| | PHF20 | 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. (1012 aa) |
| | TNFSF15 | Tumor necrosis factor ligand superfamily member 15, membrane form; 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. (251 aa) |
| | NFS1 | 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; Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. NifS/IscS subfamily. (457 aa) |
| | UQCC1 | 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. (299 aa) |
| | NCOA6 | 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. [...] (2063 aa) |
| | ZNF341 | Zinc finger protein 341; Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription. Belongs to the krueppel C2H2-type zinc-finger protein family. (854 aa) |
| | RCC2 | Protein RCC2; Multifunctional protein that may effect its functions by regulating the activity of small GTPases, such as RAC1 and RALA. Required for normal progress through the cell cycle, both during interphase and during mitosis. Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles. Required for normal organization of the microtubule cytoskeleton in interphase cells. Functions as guanine nucleotide exchange factor (GEF) for RALA. Interferes with the activation of RAC1 b [...] (522 aa) |
| | BPIFB4 | 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. (614 aa) |
| | MSH5 | 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. (835 aa) |
| | TLE1 | 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. (770 aa) |
| | EXT1 | 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. (746 aa) |
| | ASPH | 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. (758 aa) |
| | LY86 | 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). (162 aa) |
| | EXOC3L4 | Exocyst complex component 3 like 4; Belongs to the SEC6 family. (722 aa) |
| | BRCA2 | 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. [...] (3418 aa) |
| | HAUS6 | 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. (955 aa) |
| | BNC2 | Zinc finger protein basonuclin-2; Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes. (1099 aa) |
| | IRF4 | 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 [...] (451 aa) |
| | PTPRD | 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. (1912 aa) |
| | ITPR2 | 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). (2701 aa) |
| | TGM3 | Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chain; 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 cros [...] (693 aa) |
| | POU2AF1 | 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. (256 aa) |
| | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5; May be involved in transcriptional regulation. (839 aa) |
| | HLA-DRA | 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 [...] (254 aa) |
| | TRPS1 | 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. (1294 aa) |
| | ZNF134 | Zinc finger protein 134; May be involved in transcriptional regulation. (427 aa) |
| | MGST1 | Microsomal glutathione S-transferase 1; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity. (155 aa) |
| | ETV6 | 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. (452 aa) |
| | CYP19A1 | Aromatase; A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively. Catalyzes three successive oxidations of C19 androgens: two conventional oxidations at C19 yielding 19-hydroxy and 19-oxo/19-aldehyde derivatives, followed by a third oxidative aromatization step that involves C1-beta hydrogen abstraction combined with cleavage of the C10-C19 bond to yield a phenolic A ring and formic acid. Alternatively, the third oxidative reaction yields a 19- [...] (503 aa) |
| | CAPSL | Calcyphosin-like protein; Calcyphosine like. (208 aa) |
| | FTCD | Formimidoyltetrahydrofolate 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. (572 aa) |
| | TTC28 | Tetratricopeptide repeat protein 28; During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody. (2481 aa) |
| | NAV3 | Neuron navigator 3; May regulate IL2 production by T-cells. May be involved in neuron regeneration; Belongs to the Nav/unc-53 family. (2385 aa) |
| | TPTEP2-CSNK1E | TPTEP2-CSNK1E readthrough. (416 aa) |
| | NCAM2 | Neural cell adhesion molecule 2; May play important roles in selective fasciculation and zone- to-zone projection of the primary olfactory axons. (837 aa) |
| | CCDC85A | Coiled-coil domain-containing protein 85A; May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family. (553 aa) |
| | SLC22A23 | Solute carrier family 22 member 23. (686 aa) |
| | FLACC1 | Flagellum-associated coiled-coil domain-containing protein 1; Flagellum associated containing coiled-coil domains 1. (445 aa) |
| | KIF26B | 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 [...] (2108 aa) |
| | MAST4 | Microtubule associated serine/threonine kinase family member 4; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. (2623 aa) |
| | HOXD3 | 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. (432 aa) |
| | CCDC141 | Coiled-coil domain-containing protein 141; Plays a critical role in radial migration and centrosomal function. (652 aa) |
| | FCHSD2 | F-BAR and double SH3 domains protein 2; Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor. Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling. Recruited to clathrin-coated pits during a mid-to- late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits. Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate [...] (740 aa) |
| | CLEC16A | 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. (1053 aa) |
| | CPVL | 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; Belongs to the peptidase S10 family. (476 aa) |
| | PLEKHM1 | 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 [...] (1056 aa) |
| | PSMG4 | Proteasome assembly chaperone 4; Chaperone protein which promotes assembly of the 20S proteasome. (162 aa) |
| | LHFPL3 | LHFPL tetraspan subfamily member 3. (222 aa) |
| | FAM126B | Protein FAM126B; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. Belongs to the FAM126 family. (530 aa) |
| | BZW1 | Basic leucine zipper and W2 domain-containing protein 1; Enhances histone H4 gene transcription but does not seem to bind DNA directly. (451 aa) |
| | SOX5 | Transcription factor SOX-5; Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro. (763 aa) |
| | TBL1XR1 | 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. (514 aa) |
| | ZBTB7B | Zinc finger and BTB domain-containing protein 7B; Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Exerts distinct biological functions in the mammary epithelial cells and T cells in a tissue-specific manner. 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 mo [...] (573 aa) |
| | ACOXL | Acyl-coenzyme A oxidase-like protein; acyl-CoA oxidase like; Belongs to the acyl-CoA oxidase family. (580 aa) |
| | HLA-DPB1 | 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 [...] (258 aa) |
| | C2CD6 | C2 calcium-dependent domain-containing protein 6; C2 calcium dependent domain containing 6. (1820 aa) |
| | FGFR2 | 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 [...] (822 aa) |
| | PRPSAP1 | Phosphoribosyl pyrophosphate synthase-associated protein 1; Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis. (385 aa) |
| | LRRC34 | 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. (464 aa) |
| | TSBP1 | Testis expressed basic protein 1. (563 aa) |
| | ZNF276 | Zinc finger protein 276; May be involved in transcriptional regulation. (614 aa) |
| | IRF5 | 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. (514 aa) |
| | TIMMDC1 | 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. Belongs to the Tim17/Tim22/Tim23 family. (285 aa) |
| | ZBTB20 | 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). (741 aa) |
| | RAD51B | 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 [...] (425 aa) |
| | ATP11A | 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. (1134 aa) |
| | OARD1 | ADP-ribose glycohydrolase OARD1; ADP-ribose glycohydrolase that hydrolyzes ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on glutamate and O-acetyl-ADP-D-ribose. Specifically acts as a glutamate mono-ADP- ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to glutamate residues on proteins. Does not act on poly-ADP-ribosylated proteins: the poly-ADP-ribose chain of poly-ADP-ribosylated glutamate residues must by hydrolyzed into mono-ADP-ribosylated glutamate by PARG to become a substrate for OARD1. Deacetylates O-acetyl-ADP ribose, a sig [...] (152 aa) |
| | LARP7 | 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. (589 aa) |
| | RNF150 | Ring finger protein 150. (438 aa) |
| | TYK2 | 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. (1187 aa) |
| | TRPM1 | 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. (1642 aa) |
| | TUBA1C | Detyrosinated 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. (519 aa) |
| | FRY | 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. (3013 aa) |
| | SLC39A11 | Zinc transporter ZIP11; Functions as a cellular zinc transporter. (342 aa) |
| | ATXN2 | Ataxin-2; Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. (1313 aa) |
| | KRT8 | Keratin, type II cytoskeletal 8; Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. Belongs to the intermediate filament family. (511 aa) |
| | MC1R | 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. (317 aa) |
| | AKT1 | 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 the [...] (480 aa) |
| | THEGL | Testicular haploid expressed gene protein-like; Theg spermatid protein like. (465 aa) |
| | DNAH2 | 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). (4427 aa) |
| | ZNF480 | Zinc finger protein 480; Involved in transcriptional regulation as an activator. (535 aa) |
| | SPIB | 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. (262 aa) |
| | TRABD2B | 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. (517 aa) |
| | KANK1 | 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 [...] (1352 aa) |
| | CASP8AP2 | 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. (1972 aa) |
| | PLCL2 | Inactive phospholipase C-like protein 2; May play an role in the regulation of Ins(1,4,5)P3 around the endoplasmic reticulum. (1127 aa) |
| | CYP1B1 | Cytochrome P450 1B1; A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity towar [...] (543 aa) |
| | GABRG3 | 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. (467 aa) |
| | DENND1B | 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 [...] (775 aa) |
| | HNF1B | Hepatocyte nuclear factor 1-beta; Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. (557 aa) |
| | EPB41L4A | Erythrocyte membrane protein band 4.1 like 4A. (686 aa) |
| | MYH7B | Myosin-7B; Involved in muscle contraction. (1983 aa) |
| | SSBP2 | Single stranded DNA binding protein 2. (369 aa) |
| | FOXP1 | Forkhead box P1. (693 aa) |
| | DOCK1 | 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. (1886 aa) |
| | MMP24OS | Protein MMP24OS; MMP24 opposite strand. (71 aa) |
| | FDFT1 | Squalene synthase; Farnesyl-diphosphate farnesyltransferase 1; Belongs to the phytoene/squalene synthase family. (476 aa) |
| | LPP | 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. (612 aa) |
| | MANBA | Beta-mannosidase; Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides; Belongs to the glycosyl hydrolase 2 family. (879 aa) |
| | PRKCB | 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- [...] (673 aa) |
| | BCL11A | 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. May play a role in 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). (835 aa) |
| | CTLA4 | 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. (223 aa) |
| | ZFHX4 | Zinc finger homeobox protein 4; May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation. (3616 aa) |
| | CFAP298-TCP10L | Uncharacterized protein. (389 aa) |
