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    TERT telomerase reverse transcriptase [ Homo sapiens (human) ]

    Gene ID: 7015, updated on 22-Aug-2016
    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]
    Orthologs
    Location:
    5p15.33
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (1253167..1295626, 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 member 19 Neighboring gene solute carrier family 6 member 18 Neighboring gene microRNA 4457 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 pancreatic cancer.
    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
    Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
    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
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to RNA-directed RNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotidyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomerase RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomerase RNA binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    telomerase RNA reverse transcriptase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to telomerase RNA reverse transcriptase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to telomerase RNA reverse transcriptase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomerase RNA reverse transcriptase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomerase activity TAS
    Traceable Author Statement
    more info
     
    telomeric DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription coactivator binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA strand elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA-dependent DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of protein localization to telomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cellular senescence IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of production of siRNA involved in RNA interference IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of hair cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of nitric-oxide synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pri-miRNA transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein localization to nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    production of siRNA involved in RNA interference IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    replicative senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    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
     
    transcription, RNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA-directed RNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    TERT-RMRP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, telomeric region IC
    Inferred by Curator
    more info
    PubMed 
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear telomere cap complex IC
    Inferred by Curator
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomerase catalytic core complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomerase catalytic core complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomerase catalytic core complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    telomerase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomerase holoenzyme complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Preferred Names
    telomerase reverse transcriptase
    Names
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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 identical proteins and their annotated locations for 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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      1253167..1295626 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009796.1XP_016865285.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      1253108..1294322 complement
      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.