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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) | |||
HEXB | Beta-hexosaminidase subunit beta; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues; Belongs to the glycosyl hydrolase 20 family (556 aa) | |||
CACNA1C | Voltage-dependent L-type calcium channel subunit alpha-1C; 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-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the ’high-voltage activated’ (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by o [...] (2186 aa) | |||
HEXA | Beta-hexosaminidase subunit alpha; Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity; Belongs to the glycosyl hydrolase 20 family (529 aa) | |||
RPIA | Ribose 5-phosphate isomerase A; Belongs to the ribose 5-phosphate isomerase family (311 aa) | |||
FUT3 | Galactoside 3(4)-L-fucosyltransferase; May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le(+)) individuals have an active enzyme while Lewis-negative (Le(-)) individuals have an inactive enzyme. Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links (361 aa) | |||
FUT6 | Alpha-(1,3)-fucosyltransferase 6; Enzyme involved in the biosynthesis of the E-Selectin ligand, sialyl-Lewis X. Catalyzes the transfer of fucose from GDP- beta-fucose to alpha-2,3 sialylated substrates; Fucosyltransferases (359 aa) | |||
FUT7 | Alpha-(1,3)-fucosyltransferase 7; Catalyzes alpha-1,3 glycosidic linkages involved in the expression of sialyl Lewis X antigens; Belongs to the glycosyltransferase 10 family (342 aa) | |||
ST8SIA5 | Alpha-2,8-sialyltransferase 8E; May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively; Belongs to the glycosyltransferase 29 family (376 aa) | |||
RUFY1 | RUN and FYVE domain-containing protein 1; Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking; Zinc fingers FYVE-type (708 aa) | |||
B4GALNT1 | Beta-1,4 N-acetylgalactosaminyltransferase 1; Involved in the biosynthesis of gangliosides GM2, GD2 and GA2; Beta 4-glycosyltransferases (533 aa) | |||
POTEF | POTE ankyrin domain family member F; In the C-terminal section; belongs to the actin family (1075 aa) | |||
FUT4 | Alpha-(1,3)-fucosyltransferase 4; May catalyze alpha-1,3 glycosidic linkages involved in the expression of Lewis X/SSEA-1 and VIM-2 antigens; CD molecules (530 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) | |||
IPO13 | Importin-13; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis r [...] (963 aa) | |||
ST3GAL5 | Lactosylceramide alpha-2,3-sialyltransferase; Catalyzes the formation of ganglioside GM3 (alpha-N- acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D- glucosylceramide); Sialyltransferases (418 aa) | |||
SLC33A1 | Acetyl-coenzyme A transporter 1; Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides. Negatively regulates BMP signaling; Solute carriers (549 aa) | |||
ST3GAL2 | CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2; Responsible for the synthesis of the sequence NeuAc- alpha-2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values; Belongs to the glycosyltransferase 29 family (350 aa) | |||
ST8SIA1 | Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase; Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid; Sialyltransferases (356 aa) | |||
HOOK2 | Protein Hook homolog 2; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones (719 aa) | |||
INTS1 | Integrator complex subunit 1; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3’-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex; Armadillo-like helical domain containing (2190 aa) | |||
INTS12 | Integrator complex subunit 12; Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3’-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (462 aa) | |||
NMD3 | 60S ribosomal export protein NMD3; Acts as an adapter for the XPO1/CRM1-mediated export of the 60S ribosomal subunit (503 aa) | |||
ST3GAL1 | CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1; Responsible for the synthesis of the sequence NeuAc- alpha-2,3-Gal-beta-1,3-GalNAc- found on sugar chains O-linked to Thr or Ser and also as a terminal sequence on certain gangliosides. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values; Belongs to the glycosyltransferase 29 family (340 aa) | |||
FUT5 | Alpha-(1,3)-fucosyltransferase 5; May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens; Fucosyltransferases (374 aa) | |||
ZMYM2 | Zinc finger MYM-type protein 2; May function as a transcription factor; Zinc fingers MYM-type (1377 aa) |