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TERT telomerase reverse transcriptase [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_198253 Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. Full Length $1406.30
ORF Sequence $1189.65
NM_001193376 Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 2, mRNA. Full Length $1340.15
ORF Sequence $1123.50


Gene Symbol TERT
Entrez Gene ID 7015
Full Name telomerase reverse transcriptase
Synonyms EST2, TCS1, TP2, TRT, hEST2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5p15.33
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].
Disorder

MIM: 187270

{Aplastic anemia, susceptibility to}, 609135 (3); {Pulmonary
mRNA NM_198253, 109633030
Protein NP_937983, 109633031
Product telomerase reverse transcriptase isoform 1
RefSeq Status REVIEWED
mRNA NM_001193376, 301129199
Protein NP_001180305, 301129200
Product telomerase reverse transcriptase isoform 2
RefSeq Status REVIEWED
WikiPathways
WP53Id Signaling Pathway
WP49IL-2 Signaling Pathway
Pathway Interaction Database
myc_activpathwayValidated targets of C-MYC transcriptional activation
telomerasepathwayRegulation of Telomerase
hif1_tfpathwayHIF-1-alpha transcription factor network
wnt_beta_catenin_pathwayRegulation of Wnt-mediated beta catenin signaling and target gene transcription
il2_pi3kpathwayIL2 signaling events mediated by PI3K
Reactome
REACT_8030Extension of Telomeres
REACT_7970Telomere Maintenance
REACT_7974Telomere Extension By Telomerase
REACT_22172Chromosome Maintenance
Homo sapiens (human)TERTNP_937983.2
Pan troglodytes (chimpanzee)TERTXP_001141663.1
Canis lupus familiaris (dog)TERTXP_851664.1
Bos taurus (cattle)TERTNP_001039707.1
Mus musculus (house mouse)TertNP_033380.1
Rattus norvegicus (Norway rat)TertNP_445875.1
Gallus gallus (chicken)TERTNP_001026178.1
Danio rerio (zebrafish)tertNP_001077335.1
Arabidopsis thaliana (thale cress)ATTERTNP_197187.1
Process
IDNameEvidence
GO:0000723telomere maintenanceTAS
GO:0006916anti-apoptosisIMP
GO:0007004telomere maintenance via telomeraseIMP
GO:0007004telomere maintenance via telomeraseTAS
GO:0022616DNA strand elongationIDA
GO:0032203telomere formation via telomeraseIDA
GO:0090399replicative senescenceIMP
Component
IDNameEvidence
GO:0000781chromosome, telomeric regionIC
GO:0000783nuclear telomere cap complexIC
GO:0005634nucleusIEA
GO:0005654nucleoplasmEXP
GO:0005654nucleoplasmIDA
GO:0005654nucleoplasmTAS
GO:0005694chromosomeIEA
GO:0005697telomerase holoenzyme complexIDA
GO:0005730nucleolusIEA
GO:0005737cytoplasmIEA
GO:0016605PML bodyIDA
Function
IDNameEvidence
GO:0003677DNA bindingIEA
GO:0003720telomerase activityEXP
GO:0003720telomerase activityIDA
GO:0003721telomeric template RNA reverse transcriptase activityIDA
GO:0003721telomeric template RNA reverse transcriptase activityTAS
GO:0005515protein bindingIPI
GO:0016740transferase activityIEA
GO:0016779nucleotidyltransferase activityIEA
GO:0042162telomeric DNA bindingTAS
GO:0042803protein homodimerization activityIDA
GO:0070034telomeric RNA bindingIDA
GeneCards TERT
PDB 2BCK
UniProt O14746
MIM 187270
Ensembl ENSG00000164362
HGNC 11730
HPRD 01754

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