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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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; EC; 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; PML body; telomerase holoenzyme complex
Molecular Function: chaperone binding; DNA binding; nucleotidyltransferase activity; protein binding; protein homodimerization activity; RNA binding; RNA-directed DNA polymerase activity; RNA-directed RNA polymerase activity; telomerase activity; telomeric DNA binding; telomeric template RNA reverse transcriptase activity; tRNA binding
Biological Process: DNA strand elongation; mitochondrion organization and biogenesis; positive regulation of hair cycle; positive regulation of nitric-oxide synthase activity; positive regulation of protein binding; positive regulation of Wnt receptor signaling pathway; regulation of protein stability; 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
Reference #:  O14746 (UniProtKB)
Alt. Names/Synonyms: EST2; HEST2; TCS1; Telomerase catalytic subunit; Telomerase reverse transcriptase; Telomerase-associated protein 2; TERT; TP2; TRT
Gene Symbols: TERT
Molecular weight: 126,997 Da
Basal Isoelectric point: 10.54  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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