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TERT telomerase reverse transcriptase [ Homo sapiens (human) ]

Gene ID: 7015, updated on 26-Nov-2014
Official Symbol
TERTprovided by HGNC
Official Full Name
telomerase reverse transcriptaseprovided by HGNC
Primary source
HGNC:HGNC:11730
See related
Ensembl:ENSG00000164362; HPRD:01754; MIM:187270; Vega:OTTHUMG00000090357
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1
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]
See TERT in Epigenomics, MapViewer
Location:
5p15.33
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (1253167..1295047, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1253282..1295178, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 (neutral amino acid transporter), member 19 Neighboring gene solute carrier family 6 (neutral amino acid transporter), member 18 Neighboring gene microRNA 4457 Neighboring gene flocculation protein FLO11-like Neighboring gene CLPTM1-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-11-17)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2011-11-17)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.
NHGRI GWA Catalog
A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.
NHGRI GWA Catalog
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis.
NHGRI GWA Catalog
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
NHGRI GWA Catalog
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
NHGRI GWA Catalog
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
NHGRI GWA Catalog
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
NHGRI GWA Catalog
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
NHGRI GWA Catalog
Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.
NHGRI GWA Catalog
Genetic correction of PSA values using sequence variants associated with PSA levels.
NHGRI GWA Catalog
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
NHGRI GWA Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
NHGRI GWA Catalog
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
NHGRI GWA Catalog
Genome-wide association study identifies five susceptibility loci for glioma.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
NHGRI GWA Catalog
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
NHGRI GWA Catalog
Genome-wide association study identifies three new melanoma susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study of glioma and meta-analysis.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
NHGRI GWA Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog
Lung cancer susceptibility locus at 5p15.33.
NHGRI GWA Catalog
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
NHGRI GWA Catalog
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog
The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.
NHGRI GWA Catalog
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
NHGRI GWA Catalog
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Telomerase activity in normal CD34+ hematopoietic progenitor cells (HPC) exposed to recombinant gp120 is significantly reduced PubMed
Tat tat HIV-1 Tat downregulates the expression of HSP90 in CD4+ T cells, which may contribute to the impairment of hTERT stability and activation in Tat exposed cells PubMed
tat HIV-1 Tat upregulates the total levels of PP2A protein and downregulates the inactive form of phosphorylated PP2A, which leads to inhibit hTERT activity directly or indirectly in CD4+ T cells PubMed
tat HIV-1 Tat downregulates the amount of TERT component in the nucleus, where this subunit is required for telomere elongation PubMed
tat Inhibition of hTERT results in the upregulation of HIV-1 Tat-induced overexpression of intercellular adhesion molecule-1 (ICAM-1) via the nuclear factor-kappaB-regulated mechanism PubMed
Vpr vpr The interaction of HIV-1 Vpr with the EDVP E3 ligase complex (EDD, DDB1, and VPRBP) promotes Vpr-mediated downregulation of TERT protein PubMed
vpr HIV-1 Vpr inhibits telomerase activity via TERT protein downregulation in a dose- and time-dependent manner. Vpr mutants Q65R, F72L, and R77Q fail to downregulate TERT protein PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
telomeric DNA binding TAS
Traceable Author Statement
more info
PubMed 
telomeric RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric template RNA reverse transcriptase activity IDA
Inferred from Direct Assay
more info
PubMed 
telomeric template RNA reverse transcriptase activity TAS
Traceable Author Statement
more info
PubMed 
transcription coactivator binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA strand elongation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
replicative senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere formation via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
telomere maintenance TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance via telomerase NAS
Non-traceable Author Statement
more info
PubMed 
telomere maintenance via telomerase TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
colocalizes_with PML body IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region IC
Inferred by Curator
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear telomere cap complex IC
Inferred by Curator
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
telomerase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
telomerase reverse transcriptase
Names
telomerase reverse transcriptase
telomerase catalytic subunit
telomerase-associated protein 2
NP_001180305.1
NP_937983.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009265.1 

    Range
    5001..46881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_343

mRNA and Protein(s)

  1. NM_001193376.1NP_001180305.1  telomerase reverse transcriptase isoform 2

    See proteins identical to NP_001180305.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AB085628, AC114291, AF015950
    Consensus CDS
    CCDS54831.1
    UniProtKB/Swiss-Prot
    O14746
    Related
    ENSP00000334346, OTTHUMP00000220871, ENST00000334602, OTTHUMT00000366439
    Conserved Domains (3) summary
    smart00975
    Location:460594
    Telomerase_RBD; Telomerase ribonucleoprotein complex - RNA binding domain
    cd01648
    Location:825884
    TERT; TERT: Telomerase reverse transcriptase (TERT). Telomerase is a ribonucleoprotein (RNP) that synthesizes telomeric DNA repeats. The telomerase RNA subunit provides the template for synthesis of these repeats. The catalytic subunit of RNP is known as ...
    cl02808
    Location:618729
    RT_like; RT_like: Reverse transcriptase (RT, RNA-dependent DNA polymerase)_like family. An RT gene is usually indicative of a mobile element such as a retrotransposon or retrovirus. RTs occur in a variety of mobile elements, including retrotransposons, ...
  2. NM_198253.2NP_937983.2  telomerase reverse transcriptase isoform 1

    See proteins identical to NP_937983.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF015950, AF018167
    Consensus CDS
    CCDS3861.2
    UniProtKB/Swiss-Prot
    O14746
    Related
    ENSP00000309572, OTTHUMP00000115415, ENST00000310581, OTTHUMT00000206729
    Conserved Domains (3) summary
    smart00975
    Location:460594
    Telomerase_RBD; Telomerase ribonucleoprotein complex - RNA binding domain
    cd01648
    Location:825936
    TERT; TERT: Telomerase reverse transcriptase (TERT). Telomerase is a ribonucleoprotein (RNP) that synthesizes telomeric DNA repeats. The telomerase RNA subunit provides the template for synthesis of these repeats. The catalytic subunit of RNP is known as ...
    cl02808
    Location:618729
    RT_like; RT_like: Reverse transcriptase (RT, RNA-dependent DNA polymerase)_like family. An RT gene is usually indicative of a mobile element such as a retrotransposon or retrovirus. RTs occur in a variety of mobile elements, including retrotransposons, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    1253167..1295047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_241713.2 RNA Sequence

  2. XR_241712.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    1253108..1294322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    1234692..1275531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198254.1: Suppressed sequence

    Description
    NM_198254.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_198255.2: Suppressed sequence

    Description
    NM_198255.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.