Target Info |
Molecular Weight |
88,965 Da |
NCBI Accession |
O14746.1 |
NCBI GeneID |
7015 |
NCBI Official Full Name |
Telomerase reverse transcriptase |
NCBI Official Symbol |
TERT |
NCBI Official Synonym Full Names |
telomerase reverse transcriptase |
NCBI Official Synonym Symbols |
TP2, TRT, CMM9, EST2, TCS1, hTRT, DKCA2, DKCB4, hEST2, PFBMFT1 |
NCBI Protein Information |
telomerase reverse transcriptase, telomerase catalytic subunit, telomerase-associated protein 2 |
OMIM |
615134 |
UniProt Entry Name |
TERT_HUMAN |
UniProt Gene Name |
TERT |
UniProt Protein Name |
Telomerase reverse transcriptase |
UniProt Synonym Gene Names |
EST2, TCS1, TRT, TP2 |
UniProt Synonym Protein Names |
HEST2, Telomerase catalytic subunit, Telomerase-associated protein 2, TP2 |
UniProt Primary Accession |
O14746 |
UniProt Secondary Accession |
O14783, Q2XS35, Q8N6C3, Q8NG38, Q8NG46 |
Protein Family |
Telomerase reverse transcriptase |
NCBI Summary |
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] |
UniProt Comments |
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: EC 2.7.7.49; Nucleolus; DNA-binding; TransferaseChromosomal Location of Human Ortholog: 5p15.33Cellular Component: nucleoplasm; chromosome, telomeric region; PML body; nuclear telomere cap complex; telomerase holoenzyme complex; nucleolusMolecular Function: telomerase activity; protein binding; protein homodimerization activity; RNA-directed RNA polymerase activity; DNA binding; metal ion binding; telomeric DNA binding; RNA-directed DNA polymerase activity; telomeric template RNA reverse transcriptase activity; nucleotidyltransferase activity; tRNA bindingBiological Process: mitochondrion organization and biogenesis; DNA strand elongation; RNA-dependent DNA replication; positive regulation of nitric-oxide synthase activity; telomere maintenance via telomerase; age-dependent telomere shortening; positive regulation of Wnt receptor signaling pathway; RNA interference, production of siRNA; telomere maintenanceDisease: Pulmonary Fibrosis, Idiopathic; Aplastic Anemia; Dyskeratosis Congenita, Autosomal Dominant, 1 |