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PIN1 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1; Essential PPIase that regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Displays a preference for an acidic residue N-terminal to the isomerized proline bond. Catalyzes pSer/Thr-Pro cis/trans isomerizations. Down-regulates kinase activity of BTK. Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation. Binds and targets PML [...] (163 aa) | |||
SLC4A1 | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group); Band 3 is the major integral glycoprotein of the erythrocyte membrane. Band 3 has two functional domains. Its integral domain mediates a 1-1 exchange of inorganic anions across the membrane, whereas its cytoplasmic domain provides binding sites for cytoskeletal proteins, glycolytic enzymes, and hemoglobin (911 aa) | |||
GTF2H1 | general transcription factor IIH, polypeptide 1, 62kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II (548 aa) | |||
SLC4A3 | solute carrier family 4, anion exchanger, member 3; Plasma membrane anion exchange protein of wide distribution. Mediates at least a part of the Cl(-)/HCO3(-) exchange in cardiac myocytes. Both BAE3 and CAE3 forms transport Cl(-) (1259 aa) | |||
GTF2H2 | general transcription factor IIH, polypeptide 2, 44kDa; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C- terminus is required for a successful escape of RNAP II form the promoter (395 aa) | |||
SLC4A7 | solute carrier family 4, sodium bicarbonate cotransporter, member 7 (1214 aa) | |||
BOLA2B | bolA homolog 2B (E. coli) (152 aa) | |||
PRKDC | protein kinase, DNA-activated, catalytic polypeptide (4127 aa) | |||
ATP6V0C | ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c; Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (155 aa) | |||
BOLA2 | bolA homolog 2 (E. coli) (152 aa) | |||
SLC4A5 | solute carrier family 4, sodium bicarbonate cotransporter, member 5; Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+)-HCO3(-) stoichiometry of 2-1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+)-HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH (1137 aa) | |||
MTOR | mechanistic target of rapamycin (serine/threonine kinase); Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initi [...] (2549 aa) | |||
FKBP1C | FK506 binding protein 1C (108 aa) | |||
NFX1 | nuclear transcription factor, X-box binding 1; Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination (1120 aa) | |||
SLC4A11 | solute carrier family 4, sodium borate transporter, member 11; Transporter which plays an important role in sodium- mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sod [...] (918 aa) | |||
GTF2H2C | general transcription factor IIH, polypeptide 2C; Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II (By similarity) (395 aa) | |||
NFXL1 | nuclear transcription factor, X-box binding-like 1 (911 aa) | |||
SLC4A10 | solute carrier family 4, sodium bicarbonate transporter, member 10; Electrogenic sodium/bicarbonate cotransporter in exchange for intracellular chloride. Plays an important role in regulating intracellular pH (By similarity) (1118 aa) | |||
SLC4A4 | solute carrier family 4, sodium bicarbonate cotransporter, member 4 (1094 aa) | |||
SMG1 | smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans); Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex asso [...] (3661 aa) | |||
SLC4A2 | solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1); Plasma membrane anion exchange protein of wide distribution (1241 aa) | |||
SLC4A8 | solute carrier family 4, sodium bicarbonate cotransporter, member 8; Mediates electroneutral sodium- and carbonate-dependent chloride-HCO3(-) exchange with a Na(+)-HCO3(-) stoichiometry of 2-1. Plays a major role in pH regulation in neurons. May be involved in cell pH regulation by transporting HCO3(-) from blood to cell. Enhanced expression in severe acid stress could be important for cell survival by mediating the influx of HCO3(-) into the cells. Also mediates lithium-dependent HCO3(-) cotransport. May be regulated by osmolarity (1093 aa) | |||
MRPS14 | mitochondrial ribosomal protein S14 (128 aa) | |||
SLC4A9 | solute carrier family 4, sodium bicarbonate cotransporter, member 9 (959 aa) | |||
OBSCN | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (8678 aa) | |||
ENSG00000261740 | BolA-like protein 2 (249 aa) |