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| TEKT2 | Tektin-2; Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules; Tektins (430 aa) | |||
| EHHADH | Peroxisomal bifunctional enzyme; enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase; In the C-terminal section; belongs to the 3- hydroxyacyl-CoA dehydrogenase family (723 aa) | |||
| BARD1 | BRCA1-associated RING domain protein 1; E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of ’Lys-6’-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II [...] (777 aa) | |||
| MLYCD | Malonyl-CoA decarboxylase, mitochondrial; Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in mus [...] (493 aa) | |||
| C12orf10 | UPF0160 protein MYG1, mitochondrial; Chromosome 12 open reading frame 10 (376 aa) | |||
| GEMIN6 | Gem-associated protein 6; The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chapero [...] (167 aa) | |||
| PCYT1A | Choline-phosphate cytidylyltransferase A; Controls phosphatidylcholine synthesis; Belongs to the cytidylyltransferase family (367 aa) | |||
| ECI1 | Enoyl-CoA delta isomerase 1, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species (302 aa) | |||
| ACOT12 | Acyl-coenzyme A thioesterase 12; Hydrolyzes acetyl-CoA to acetate and CoA; Acyl-CoA thioesterases (555 aa) | |||
| THUMPD3 | THUMP domain-containing protein 3; Seven-beta-strand methyltransferase motif containing; Belongs to the methyltransferase superfamily (507 aa) | |||
| MCPH1 | Microcephalin; Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex (835 aa) | |||
| HIBCH | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA (386 aa) | |||
| ECHS1 | Enoyl-CoA hydratase, mitochondrial; Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate (290 aa) | |||
| ACOT11 | Acyl-coenzyme A thioesterase 11; Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates (607 aa) | |||
| ECHDC2 | Enoyl-CoA hydratase domain-containing protein 2, mitochondrial; enoyl-CoA hydratase domain containing 2; Belongs to the enoyl-CoA hydratase/isomerase family (292 aa) | |||
| SAR1A | GTP-binding protein SAR1a; Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation. SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic reticulum exit sites (ERES); ARF GTPase family (198 aa) | |||
| ZC4H2 | Zinc finger C4H2 domain-containing protein; Plays a role in interneurons differentiation. Involved in neuronal development and in neuromuscular junction formation; Zinc fingers (224 aa) | |||
| AUH | Methylglutaconyl-CoA hydratase, mitochondrial; Catalyzes the conversion of 3-methylglutaconyl-CoA to 3- hydroxy-3-methylglutaryl-CoA. Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5- dicarboxylate catabolism pathway. The C5- dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5’-AUUUA-3’ motifs (339 aa) | |||
| PCYT1B | Choline-phosphate cytidylyltransferase B; Controls phosphatidylcholine synthesis (369 aa) | |||
| ECI2 | Enoyl-CoA delta isomerase 2, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species. Has a preference for 3-trans substrates (By similarity) (394 aa) | |||
| HADHA | Trifunctional enzyme subunit alpha, mitochondrial; Bifunctional subunit; In the central section; belongs to the 3-hydroxyacyl- CoA dehydrogenase family (763 aa) | |||
| SAR1B | GTP-binding protein SAR1b; Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex; ARF GTPase family (198 aa) | |||
| BRCA1 | Breast cancer type 1 susceptibility protein; E3 ubiquitin-protein ligase that specifically mediates the formation of ’Lys-6’-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic [...] (1884 aa) | |||
| PCYT2 | Ethanolamine-phosphate cytidylyltransferase; Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP-ethanolamine (407 aa) | |||
| SOD2 | Superoxide dismutase [Mn], mitochondrial; Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems (222 aa) | |||
| ENSG00000260300 | Uncharacterized protein (175 aa) | |||
