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| AASDH | Acyl-CoA synthetase family member 4; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA; Acyl-CoA synthetase family (1098 aa) | |||
| FA2H | Fatty acid 2-hydroxylase; Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids; Belongs to the sterol desaturase family. SCS7 subfamily (372 aa) | |||
| PRPF19 | Pre-mRNA-processing factor 19; Ubiquitin-protein ligase which is a core component of several complexes mainly involved pre-mRNA splicing and DNA repair. Core component of the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome and participates in its assembly, its remodeling and is required for its activity. During assembly of the spliceosome, mediates ’Lys-63’-linked polyubiquitination of the U4 spliceosomal protein PRPF3. Ubiquitination of PRPF3 allows its recognition by the U5 component PRPF8 and stabilizes the U4/U5/U6 tri-snRNP spliceosomal complex. Recruite [...] (504 aa) | |||
| 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) | |||
| MSMO1 | Methylsterol monooxygenase 1; Catalyzes the first step in the removal of the two C-4 methyl groups of 4,4-dimethylzymosterol; Belongs to the sterol desaturase family (293 aa) | |||
| RAB11A | Ras-related protein Rab-11A; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab regulates endocytic recycling. Acts as a major regulator of membrane delivery during cytokinesis. Together with MYO5B and RAB8A participates in epithelial cell polarization. T [...] (216 aa) | |||
| PHF3 | PHD finger protein 3 (2039 aa) | |||
| SQLE | Squalene monooxygenase; Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway; Belongs to the squalene monooxygenase family (574 aa) | |||
| DIDO1 | Death-inducer obliterator 1; Putative transcription factor, weakly pro-apoptotic when overexpressed (By similarity). Tumor suppressor. Required for early embryonic stem cell development; PHD finger proteins (2240 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) | |||
| FAXDC2 | Fatty acid hydroxylase domain containing 2; Belongs to the sterol desaturase family (333 aa) | |||
| NPLOC4 | Nuclear protein localization protein 4 homolog; The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination [...] (608 aa) | |||
| RAB11B | Ras-related protein Rab-11B; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epitheli [...] (218 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) | |||
| CACNA2D1 | Voltage-dependent calcium channel subunit alpha-2/delta-1; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity) (1091 aa) | |||
| SPOCD1 | Protein phosphatase 1 regulatory subunits (1216 aa) | |||
| RAB25 | Ras-related protein Rab-25; Involved in the regulation of cell survival. Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia. Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions (By similarity). May selectively regulate the apical recycling pathway. Together with MYO5B regulates transcytosis (By similarity); Belongs to the small GTPase superfamily. Rab family (213 aa) | |||
| R3HDM4 | R3H domain containing 4 (268 aa) | |||
| CH25H | Cholesterol 25-hydroxylase; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. Plays a key role in cell positioning and movement in lymphoid tissues- 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element [...] (272 aa) | |||
| RC3H2 | Roquin-2; Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3’-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimul [...] (1191 aa) | |||
| FANCG | Fanconi anemia group G protein; DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene; Fanconi anemia complementation groups (622 aa) | |||
| CYP19A1 | Aromatase; Catalyzes the formation of aromatic C18 estrogens from C19 androgens; Cytochrome P450 family 19 (503 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) | |||
