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PAF1 | Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae); Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and ’Ser-2’- and ’Ser-5’-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is requir [...] (531 aa) | |||
MYL12B | myosin, light chain 12B, regulatory; Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity) (172 aa) | |||
MCEE | methylmalonyl CoA epimerase (176 aa) | |||
MAPK3 | mitogen-activated protein kinase 3; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays a [...] (379 aa) | |||
AGPS | alkylglycerone phosphate synthase; Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids (By similarity) (658 aa) | |||
PNKD | paroxysmal nonkinesigenic dyskinesia; Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway (By similarity) (385 aa) | |||
NCSTN | nicastrin; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). It probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex (709 aa) | |||
ILK | integrin-linked kinase; Receptor-proximal protein kinase regulating integrin- mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B (452 aa) | |||
LDHD | lactate dehydrogenase D (507 aa) | |||
PPARGC1B | peroxisome proliferator-activated receptor gamma, coactivator 1 beta (1023 aa) | |||
MLXIP | MLX interacting protein; Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5’-CACGTG-3’. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation (919 aa) | |||
GRHPR | glyoxylate reductase/hydroxypyruvate reductase; Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to hydroxypyruvate (328 aa) | |||
PPFIBP1 | PTPRF interacting protein, binding protein 1 (liprin beta 1); May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A (1011 aa) | |||
D2HGDH | D-2-hydroxyglutarate dehydrogenase; Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate (521 aa) | |||
HAO2 | hydroxyacid oxidase 2 (long chain); Catalyzes the oxidation of L-alpha-hydroxy acids as well as, more slowly, that of L-alpha-amino acids (351 aa) | |||
ATRIP | ATR interacting protein (791 aa) | |||
ENO3 | enolase 3 (beta, muscle); Appears to have a function in striated muscle development and regeneration (434 aa) | |||
HHIPL1 | HHIP-like 1 (782 aa) | |||
HHIPL2 | HHIP-like 2 (724 aa) | |||
MAGEA11 | melanoma antigen family A, 11; Acts as androgen receptor co-regulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression (429 aa) | |||
LSS | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (732 aa) | |||
DHCR24 | 24-dehydrocholesterol reductase; Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis (516 aa) | |||
GLO1 | glyoxalase I; Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione. Involved in the regulation of TNF-induced transcriptional activity of NF- kappa-B (184 aa) | |||
HAO1 | hydroxyacid oxidase (glycolate oxidase) 1; Has 2-hydroxyacid oxidase activity. Most active on the 2-carbon substrate glycolate, but is also active on 2-hydroxy fatty acids, with high activity towards 2-hydroxy palmitate and 2- hydroxy octanoate (370 aa) | |||
ENSG00000212884 | cDNA FLJ34843 fis, clone NT2NE2011119, highly similar to C-TERMINAL BINDING PROTEIN 2 (149 aa) | |||
ARMC6 | armadillo repeat containing 6 (501 aa) |