Aliases for TERT Gene
External Ids for TERT Gene
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, 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 variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
GeneCards Summary for TERT Gene
TERT (Telomerase Reverse Transcriptase) is a Protein Coding gene. Diseases associated with TERT include bone marrow failure, telomere-related, 1 and pulmonary fibrosis, familial. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Cell Cycle, Mitotic. GO annotations related to this gene include protein homodimerization activity and telomerase activity.
UniProtKB/Swiss-Prot for TERT Gene
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.
Telomerase is a ribonucleoprotein composed of an internal telomerase RNA template (TERC) and the enzyme, telomerase reverse transcriptase (TERT). Telomerase adds small repeat sequences of DNA (TTAGGG) to the end of chromosomes - multiple repeats of this hexanucleotide sequence over a 5kb span are known as a telomere. During normal cellular replication, telomeres are eroded and thus protect the coding sequences of the DNA. The erosion of telomeric sequences is thought to form the basis of the cellular clock which eventually signals for the cell to exit the cell cycle and undergo senescence. Expression of telomerase is low in most normal cells although it is thought to be active in embryonic cells and some rapidly dividing cells of the immune system. Overexpression of telomerase is key component of the transformation process in many malignant cancer cells.