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| PCSK1N | 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 [...] (260 aa) | |||
| CMAS | 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) (434 aa) | |||
| NOTCH2 | 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- [...] (2471 aa) | |||
| OGN | Mimecan; Induces bone formation in conjunction with TGF-beta-1 or TGF-beta-2; Small leucine rich repeat proteoglycans (298 aa) | |||
| IMPAD1 | 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 (359 aa) | |||
| NOTCH3 | 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) (2321 aa) | |||
| LUM | Lumican; Small leucine rich repeat proteoglycans; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily (338 aa) | |||
| KERA | Keratocan; May be important in developing and maintaining corneal transparency and for the structure of the stromal matrix; Small leucine rich repeat proteoglycans (352 aa) | |||
| SCN3A | 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 (2000 aa) | |||
| C1GALT1C1 | 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) (318 aa) | |||
| CD8B | 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 [...] (243 aa) | |||
| OAF | Out at first homolog; Belongs to the OAF family (273 aa) | |||
| IDS | Iduronate 2-sulfatase; Required for the lysosomal degradation of heparan sulfate and dermatan sulfate; Sulfatases (550 aa) | |||
| SCN8A | 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 (1980 aa) | |||
| FAM3C | Protein FAM3C; May be involved in retinal laminar formation. Promotes epithelial to mesenchymal transition (227 aa) | |||
| CACNA1A | 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 [...] (2506 aa) | |||
| CACNA1E | 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 [...] (2313 aa) | |||
| CACNA1B | 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 [...] (2339 aa) | |||
| MANEAL | Glycoprotein endo-alpha-1,2-mannosidase-like protein; Mannosidase endo-alpha like; Belongs to the glycosyl hydrolase 99 family (457 aa) | |||
| CSGALNACT2 | 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 (542 aa) | |||
| SCN2A | 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 (2005 aa) | |||
| DHFRL1 | 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 (187 aa) | |||
| SCN5A | 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 [...] (2016 aa) | |||
| ST3GAL4 | 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 (333 aa) | |||
| LRFN3 | 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 (628 aa) | |||
| FAM213A | 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 (229 aa) | |||
