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TGS1 | trimethylguanosine synthase 1; Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine, and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies (CBs). Plays a role in transcriptional regulation (853 aa) | |||
CASQ2 | calsequestrin 2 (cardiac muscle); Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2) binds approximately 60 Ca(2+) ions (399 aa) | |||
PHLPP1 | PH domain and leucine rich repeat protein phosphatase 1; Protein phosphatase that mediates dephosphorylation of ’Ser-473’ of AKT1, ’Ser-660’ of PRKCB isoform beta-II and ’Ser- 657’ of PRKCA. AKT1 regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of ’Ser-473’ of AKT1 triggers apoptosis and suppression of tumor growth. Controls the phosphorylation of AKT2 and AKT3 more efficiently than that of AKT1. Dephosphorylation of PRKCA and PRKCB leads [...] (1717 aa) | |||
PPARA | peroxisome proliferator-activated receptor alpha; Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl- 2-oleoyl-sn-glycerol-3-phosphocholine (16-0/18-1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety (By similarity). Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerizati [...] (468 aa) | |||
NNT | nicotinamide nucleotide transhydrogenase; The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (1086 aa) | |||
FABP1 | fatty acid binding protein 1, liver; Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (127 aa) | |||
LRRK2 | leucine-rich repeat kinase 2; May play a role in the phosphorylation of proteins central to Parkinson disease. Phosphorylates PRDX3. May also have GTPase activity. Positively regulates autophagy through a calcium- dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (2527 aa) | |||
MED1 | mediator complex subunit 1; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (1581 aa) | |||
UBE2O | ubiquitin-conjugating enzyme E2O (1292 aa) | |||
CARM1 | coactivator-associated arginine methyltransferase 1; Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability. Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at ’Arg-17’ (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. During nuclear hormone receptor activation and TCF7L2/ [...] (608 aa) | |||
LIMS2 | LIM and senescent cell antigen-like domains 2 (365 aa) | |||
RBPJL | recombination signal binding protein for immunoglobulin kappa J region-like; Putative transcription factor, which cooperates with EBNA2 to activate transcription (By similarity) (517 aa) | |||
TTN | titin (33423 aa) | |||
PHLPP2 | PH domain and leucine rich repeat protein phosphatase 2; Protein phosphatase that mediates dephosphorylation of ’Ser-473’ of AKT1, ’Ser-660’ of PRKCB isoform beta-II and ’Ser- 657’ of PRKCA. AKT1 regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of ’Ser-473’ of AKT1 triggers apoptosis and decreases cell proliferation. Also controls the phosphorylation of AKT3. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradati [...] (1323 aa) | |||
MYPN | myopalladin; Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines (1320 aa) | |||
NCOA6 | nuclear receptor coactivator 6; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. M [...] (2063 aa) | |||
PDE4DIP | phosphodiesterase 4D interacting protein (2362 aa) | |||
ANKRD1 | ankyrin repeat domain 1 (cardiac muscle); May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells (319 aa) | |||
GART | phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (1010 aa) | |||
HELZ2 | helicase with zinc finger 2, transcriptional coactivator; Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA (2649 aa) | |||
RXRA | retinoid X receptor, alpha; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5’-AGGTCA-3’ sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid. RXRA serves as a common heterodimeric partner for a number of nuclear receptors. The RXR/RAR heterodimers bind to the retinoic acid response [...] (462 aa) | |||
SH3BP2 | SH3-domain binding protein 2; Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism (618 aa) | |||
RPS3 | ribosomal protein S3 (243 aa) | |||
LIMS1 | LIM and senescent cell antigen-like domains 1; Adapter protein in a cytoplasmic complex linking beta- integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Involved in the regulation of cell survival, cell proliferation and cell differentiation (387 aa) | |||
ENSG00000240428 | LIM and senescent cell antigen-like-containing domain protein 3; LIM and senescent cell antigen-like-containing domain protein 3-like; Uncharacterized protein; cDNA FLJ59124, highly similar to Particularly interesting newCys-His protein; cDNA, FLJ79109, highly similar to Particularly interesting newCys-His protein (248 aa) | |||
ENSG00000257207 | LIM and senescent cell antigen-like-containing domain protein 3; LIM and senescent cell antigen-like-containing domain protein 3-like; Uncharacterized protein; cDNA FLJ59124, highly similar to Particularly interesting newCys-His protein; cDNA, FLJ79109, highly similar to Particularly interesting newCys-His protein (248 aa) |