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| 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) | |||
| SPAG9 | C-Jun-amino-terminal kinase-interacting protein 4; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Isoform 5 may play a role in spermatozoa-egg- interaction (1321 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) | |||
| PCYT1A | Choline-phosphate cytidylyltransferase A; Controls phosphatidylcholine synthesis; Belongs to the cytidylyltransferase family (367 aa) | |||
| INPPL1 | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol- 3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signalin [...] (1258 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) | |||
| 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) | |||
| ZMYM6 | Zinc finger MYM-type protein 6; Plays a role in the regulation of cell morphology and cytoskeletal organization; Zinc fingers MYM-type (1325 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) | |||
| ZBTB8A | Zinc finger and BTB domain-containing protein 8A; May be involved in transcriptional regulation; BTB domain containing (441 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) | |||
| ACOT7 | Cytosolic acyl coenzyme A thioester hydrolase; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May play an important physiological function in brain. May play a regulatory role by modulating the cellular levels of fatty acyl- CoA ligands for certain transcription factors as well as the substrates for fatty acid metabolizing enzymes, contributing to lipid homeostasis. Has broad specificity, active toward [...] (380 aa) | |||
| PCYT1B | Choline-phosphate cytidylyltransferase B; Controls phosphatidylcholine synthesis (369 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) | |||
| TLR5 | Toll-like receptor 5; Participates in the innate immune response to microbial agents. Mediates detection of bacterial flagellins. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response; Toll like receptors (858 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) | |||
