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TERT telomerase reverse transcriptase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001193376 Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_198253 Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Related Services

Gene Symbol TERT
Entrez Gene ID 7015
Full Name telomerase reverse transcriptase
Synonyms CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT
General protein information
Preferred Names
telomerase reverse transcriptase
Names
telomerase reverse transcriptase
telomerase catalytic subunit
telomerase-associated protein 2
NP_001180305.1
NP_937983.2
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, Jul 2008].
Disorder

MIM: 187270

{Aplastic anemia, susceptibility to}, 609135 (3); {Pulmonary

mRNA Protein Product Sequence Price Select
NM_001193376, 301129199 NP_001180305, 301129200 telomerase reverse transcriptase isoform 2 ORF Sequence $1500.00
NM_198253, 109633030 NP_937983, 109633031 telomerase reverse transcriptase isoform 1 ORF Sequence $1500.00
KEGG
hsa05166HTLV-I infection
WikiPathways
WP53Id Signaling Pathway
Pathway Interaction Database
il2_pi3kpathwayIL2 signaling events mediated by PI3K
telomerasepathwayRegulation of Telomerase
hif1_tfpathwayHIF-1-alpha transcription factor network
myc_activpathwayValidated targets of C-MYC transcriptional activation
wnt_beta_catenin_pathwayRegulation of Wnt-mediated beta catenin signaling and target gene transcription
Reactome
REACT_11045Signaling by Wnt
REACT_7970Telomere Maintenance
REACT_8030Extension of Telomeres
REACT_7974Telomere Extension By Telomerase
REACT_22172Chromosome Maintenance
REACT_111102Signal Transduction
REACT_115566Cell Cycle
REACT_200777TCF dependent signaling in response to WNT
REACT_200753formation of the beta-catenin:TCF transactivating complex
Homo sapiens (human)TERTNP_937983.2
Pan troglodytes (chimpanzee)TERTXP_003950543.1
Canis lupus familiaris (dog)TERTNP_001026800.1
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
Xenopus (Silurana) tropicalis (western clawed frog)tertXP_004915405.1
Process
IDNameEvidence
GO:0000723telomere maintenanceTAS
GO:0007004telomere maintenance via telomeraseIMP
GO:0007004telomere maintenance via telomeraseTAS
GO:0022616DNA strand elongationIDA
GO:0032203telomere formation via telomeraseIDA
GO:0090399replicative senescenceIMP
GO:2001240negative regulation of extrinsic apoptotic signaling pathway in absence of ligandIMP
Component
IDNameEvidence
GO:0000781chromosome, telomeric regionIC
GO:0000783nuclear telomere cap complexIC
GO:0005654nucleoplasmIDA
GO:0005654nucleoplasmTAS
GO:0005697telomerase holoenzyme complexIDA
GO:0005730nucleolusIEA
GO:0005737cytoplasmIEA
GO:0016605PML bodyIDA
Function
IDNameEvidence
GO:0003720telomerase activityIDA
GO:0003721telomeric template RNA reverse transcriptase activityIDA
GO:0003721telomeric template RNA reverse transcriptase activityTAS
GO:0005515protein bindingIPI
GO:0042162telomeric DNA bindingTAS
GO:0042803protein homodimerization activityIDA
GO:0046872metal ion bindingIEA
GO:0070034telomeric RNA bindingIDA
GeneCards TERT
UniProt O14746
Vega OTTHUMG00000090357
MIM 187270
Ensembl ENSG00000164362
HGNC 11730
HPRD 01754

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TERT gene?

The TERT gene provides instructions for making one component of an enzyme called telomerase. Telomerase maintains structures called telomeres, which are composed of repeated segments of DNA found at the ends of chromosomes. Telomeres protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis). Telomerase counteracts the shortening of telomeres by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides.

In most types of cells, telomerase is either undetectable or active at very low levels. However, telomerase is highly active in cells that divide rapidly, such as cells that line the lungs and gastrointestinal tract, cells in bone marrow, and cells of the developing fetus. Telomerase allows these cells to divide many times without becoming damaged or undergoing apoptosis. Telomerase is also abnormally active in most cancer cells, which grow and divide without control or order.

The telomerase enzyme consists of two major components that work together. The component produced from the TERT gene is known as hTERT. The other component is produced from a gene called TERC and is known as hTR. The hTR component provides a template for creating the repeated sequence of DNA that telomerase adds to the ends of chromosomes. The hTERT component then adds the new DNA segment to chromosome ends.

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