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Symbol: TERT Name: telomerase reverse transcriptase Entrez gene ID: 7015 Ensembl gene ID: ENSG00000164362 Species: Human (Taxid: 9606) Functional description: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA- dependent extension of 3'-chromosomal termini with the 6- nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis. [UniProt] Observation: Telomerase-expressing cells (human foreskin fibroblasts, retinal pigment epithelial cells) maintain normal length of telomeres and continue to divide vigorously [9454332]. Cells expression telomerase have reduced staining for beta-galactosidase (a biomarker of cellular senescence) [9501072]. TERT expression is also able to prevent the accelerated replicative senescence observed in cells taken from Werner's patients [10615119]. A haplotype of TERT was correlated with both longer both longer telomere length and exceptional longevity. Mutations in TERT were overpresented in Ashkenazi centenarians [19915151].TERT was not found to be associated with longevity [22136229]. TERT was found to be associated with longevity [23562826]. Interventions: Assays: Replicative Lifespan Organismal Lifespan Longevity Associated Variants: Classification: References: Aging Relevance Analysis/Source:  GenAge GenDRHomologs Inparanoids Edit \ Update (Admin) | Delete |
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