TERT: telomerase reverse transcriptase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The holoenzyme consists of TERT and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced isoforms have been identified, although the full-length sequence of some variants has not been determined.
Protein type: DNA-binding; EC 2.7.7.49; Nucleolus; Transferase
Chromosomal Location of Human Ortholog: 5p15.33
Cellular Component: chromosome, telomeric region; nuclear chromosome, telomeric region; nuclear telomere cap complex; nucleolus; nucleoplasm; nucleus; plasma membrane; PML body; telomerase catalytic core complex; telomerase holoenzyme complex; TERT-RMRP complex
Molecular Function: chaperone binding; DNA binding; identical protein binding; metal ion binding; nucleotidyltransferase activity; protein binding; protein C-terminus binding; protein homodimerization activity; protein N-terminus binding; RNA binding; RNA-directed DNA polymerase activity; RNA-directed RNA polymerase activity; telomerase activity; telomerase RNA binding; telomeric DNA binding; telomeric template RNA reverse transcriptase activity; template-free RNA nucleotidyltransferase; tRNA binding
Biological Process: beta-catenin-TCF complex assembly; cellular response to hypoxia; DNA biosynthetic process; DNA strand elongation; mitochondrion organization; negative regulation of cellular senescence; negative regulation of endothelial cell apoptotic process; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; negative regulation of gene expression; negative regulation of neuron apoptosis; positive regulation of angiogenesis; positive regulation of G1/S transition of mitotic cell cycle; positive regulation of glucose import; positive regulation of hair cycle; positive regulation of nitric-oxide synthase activity; positive regulation of protein binding; positive regulation of protein localization to nucleolus; positive regulation of stem cell proliferation; positive regulation of vascular associated smooth muscle cell migration; positive regulation of vascular smooth muscle cell proliferation; positive regulation of Wnt receptor signaling pathway; regulation of protein stability; replicative senescence; response to cadmium ion; RNA biosynthetic process; RNA interference, production of siRNA; RNA-dependent DNA replication; telomere maintenance; telomere maintenance via telomerase
Disease: Aplastic Anemia; Dyskeratosis Congenita, Autosomal Dominant, 1; Pulmonary Fibrosis, Idiopathic
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