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Telomerase reverse transcriptase
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Telomerase reverse transcriptase
Available structures
PDB
Ortholog search: PDBe, RCSB
List of PDB id codes
2BCK?, 4B18?, 4MNQ?
Identifiers
Symbols
TERT ; CMM9; DKCA2; DKCB4; EST2; PFBMFT1; TCS1; TP2; TRT; hEST2; hTRT
External IDs
OMIM: 187270 MGI: 1202709 HomoloGene: 31141 ChEMBL: 2916 GeneCards: TERT Gene
EC number
2.7.7.49
Gene ontology
Molecular function
• tRNA binding
• transcription coactivator binding
• DNA binding
• telomerase activity
• telomeric template RNA reverse transcriptase activity
• RNA binding
• RNA-directed DNA polymerase activity
• RNA-directed RNA polymerase activity
• protein binding
• nucleotidyltransferase activity
• telomeric DNA binding
• protein homodimerization activity
• metal ion binding
• telomeric RNA binding
Cellular component
• telomerase catalytic core complex
• chromosome, telomeric region
• nuclear telomere cap complex
• nucleoplasm
• telomerase holoenzyme complex
• nucleolus
• PML body
• RNA-directed RNA polymerase complex
• mitochondrial nucleoid
• TERT-RMRP complex
Biological process
• telomere maintenance
• transcription, RNA-templated
• RNA-dependent DNA replication
• telomere maintenance via telomerase
• mitochondrion organization
• negative regulation of gene expression
• DNA strand elongation
• positive regulation of Wnt signaling pathway
• production of siRNA involved in RNA interference
• RNA biosynthetic process
• positive regulation of hair cycle
• positive regulation of nitric-oxide synthase activity
• cellular response to hypoxia
• DNA biosynthetic process
• replicative senescence
• positive regulation of pri-miRNA transcription from RNA polymerase II promoter
• negative regulation of production of siRNA involved in RNA interference
• positive regulation of stem cell proliferation
• negative regulation of cellular senescence
• negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species
Human
Mouse
Entrez
7015
21752
Ensembl
ENSG00000164362
ENSMUSG00000021611
UniProt
O14746
O70372
RefSeq (mRNA)
NM_001193376
NM_009354
RefSeq (protein)
NP_001180305
NP_033380
Location (UCSC)
Chr 5:
1.25 – 1.3 Mb
Chr 13:
73.63 – 73.65 Mb
PubMed search
v
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Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex.Telomerases are part of a distinct subgroup of RNA-dependent polymerases. Telomerase lengthens telomeres in DNA strands, thereby allowing senescent cells that would otherwise become postmitotic and undergo apoptosis to exceed the Hayflick limit and become potentially immortal, as is often the case with cancerous cells. To be specific, TERT is responsible for catalyzing the addition of nucleotides in a TTAGGG sequence to the ends of a chromosome’s telomeres. This addition of repetitive DNA sequences prevents degradation of the chromosomal ends following multiple rounds of replication.hTERT absence (usually as a result of a chromosomal mutation) is associated with the disorder Cri du chat.
^ Weinrich SL, Pruzan R, Ma L, Ouellette M, Tesmer VM, Holt SE, Bodnar AG, Lichtsteiner S, Kim NW, Trager JB, Taylor RD, Carlos R, Andrews WH, Wright WE, Shay JW, Harley CB, Morin GB (December 1997). "Reconstitution of human telomerase with the template RNA component hTR and the catalytic protein subunit hTRT". Nat. Genet. 17 (4): 498–502. doi:10.1038/ng1297-498. PMID 9398860.
^ Kirkpatrick KL, Mokbel K (2001). "The significance of human telomerase reverse transcriptase (hTERT) in cancer". Eur J Surg Oncol 27 (8): 754–60. doi:10.1053/ejso.2001.1151. PMID 11735173.
^ Shampay J, Blackburn EH (January 1988). "Generation of telomere-length heterogeneity in Saccharomyces cerevisiae". Proc. Natl. Acad. Sci. U.S.A. 85 (2): 534–8. doi:10.1073/pnas.85.2.534. PMC 279585. PMID 3277178.
^ Poole JC, Andrews LG, Tollefsbol TO (May 2001). "Activity, function, and gene regulation of the catalytic subunit of telomerase (hTERT)". Gene 269 (1-2): 1–12. doi:10.1016/S0378-1119(01)00440-1. PMID 11376932.
^ Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, Björkholm M, Gruber A, Blennow E, Xu D (2003). "Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome". Am. J. Hum. Genet. 72 (4): 940–8. doi:10.1086/374565. PMC 1180356. PMID 12629597.
^ Cerruti Mainardi P (2006). "Cri du Chat syndrome". Orphanet J Rare Dis 1: 33. doi:10.1186/1750-1172-1-33. PMC 1574300. PMID 16953888.
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