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| HSD17B7 | 3-keto-steroid reductase; Responsible for the reduction of the keto group on the C-3 of sterols; Short chain dehydrogenase/reductase superfamily (341 aa) | |||
| C14orf1 | Probable ergosterol biosynthetic protein 28; Chromosome 14 open reading frame 1; Belongs to the ERG28 family (140 aa) | |||
| GYS2 | Glycogen [starch] synthase, liver; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan; Glycosyl transferases group 1 domain containing (703 aa) | |||
| ALG1 | Chitobiosyldiphosphodolichol beta-mannosyltransferase; Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily (464 aa) | |||
| PELI2 | E3 ubiquitin-protein ligase pellino homolog 2; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates IL1B-induced IRAK1 ’Lys-63’-linked polyubiquitination and possibly ’Lys-48’-linked ubiquitination. May be important for LPS- and IL1B-induced MAP3K7- dependent, but not MAP3K3-dependent, NF-kappa-B activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1 (420 aa) | |||
| SIGMAR1 | Sigma non-opioid intracellular receptor 1; Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. [...] (223 aa) | |||
| TM7SF2 | Delta(14)-sterol reductase; Involved in the conversion of lanosterol to cholesterol (418 aa) | |||
| UXS1 | UDP-glucuronic acid decarboxylase 1; Catalyzes the NAD-dependent decarboxylation of UDP- glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis; Short chain dehydrogenase/reductase superfamily (425 aa) | |||
| SSU72 | RNA polymerase II subunit A C-terminal domain phosphatase SSU72; Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK; Belongs to the SSU72 phosphatase family (194 aa) | |||
| GYS1 | Glycogen [starch] synthase, muscle; Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan; Glycosyl transferases group 1 domain containing (737 aa) | |||
| PELI3 | E3 ubiquitin-protein ligase pellino homolog 3; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates ’Lys-63’-linked polyubiquitination of IRAK1. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation; Belongs to the pellino family (469 aa) | |||
| LBR | Lamin-B receptor; Anchors the lamina and the heterochromatin to the inner nuclear membrane; Tudor domain containing (615 aa) | |||
| DHCR7 | 7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC); Belongs to the ERG4/ERG24 family (475 aa) | |||
| PELI1 | E3 ubiquitin-protein ligase pellino homolog 1; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates ’Lys-63’-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation (418 aa) | |||
| R3HDM4 | R3H domain containing 4 (268 aa) | |||
| C9orf41 | Carnosine N-methyltransferase; N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L- histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA- His) (409 aa) | |||
| IPO7 | Importin-7; Functions in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, is thought to serve itself as receptor for nuclear localization signals (NLS) and to promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm [...] (1038 aa) | |||
| PIGA | Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily (484 aa) | |||
| DDX1 | ATP-dependent RNA helicase DDX1; Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5’ single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expressi [...] (740 aa) | |||
| NDUFAF6 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; Involved in the assembly of mitochondrial NADH-ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1 (333 aa) | |||
| LSS | Lanosterol synthase; Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency; Belongs to the terpene cyclase/mutase family (732 aa) | |||
| SEH1L | Nucleoporin SEH1; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore; Belongs to the WD repeat SEC13 family (421 aa) | |||
| ZNF512B | Zinc finger protein 512B; May be involved in transcriptional regulation (892 aa) | |||
| TSKU | Tsukushin; Tsukushi, small leucine rich proteoglycan (353 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 th [...] (480 aa) | |||
| FDFT1 | Squalene synthase; Farnesyl-diphosphate farnesyltransferase 1 (417 aa) | |||
