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    TERT telomerase reverse transcriptase [ Homo sapiens (human) ]

    Gene ID: 7015, updated on 22-May-2013
    Official Symbol
    TERTprovided by HGNC
    Official Full Name
    telomerase reverse transcriptaseprovided by HGNC
    Primary source
    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]
    Location :
    5p15.33
    Sequence :
    Chromosome: 5; NC_000005.9 (1253282..1295162, complement)
    See TERT in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 (neutral amino acid transporter), member 19 Neighboring gene solute carrier family 6, member 18 Neighboring gene microRNA 4457 Neighboring gene CLPTM1-like

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

    AML - Acute myeloid leukemia

    Summary from GeneReviews: Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA Go to GeneReviews

    Disease Characteristics
    Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA mutation is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA mutation. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease.
    Diagnosis Testing
    CEBPA mutations are found in the leukemic cells of approximately 9% of persons with AML, including 15%-18% of persons with normal-karyotype AML; however, few of these individuals have a germline mutation. Detection of a germline CEBPA mutation in a specimen that contains only non-leukemic cells from an individual with AML or detection of a germline CEBPA mutation in a member of a pedigree in which more than one family member has had AML or myelodysplastic syndrome (MDS) establishes the diagnosis of familial AML with mutated CEBPA. Molecular genetic testing of CEBPA is available on a clinical basis.
    Genetic Counseling
    Familial AML with mutated CEBPA is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo germline mutation is unknown; currently, all seven reported affected individuals have had an affected parent. Each child of an affected individual has a 50% chance of inheriting the germline mutation. No laboratories offering molecular genetic testing for prenatal diagnosis of familial AML with mutated CEBPA are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing germline mutation has been identified. Requests for prenatal testing for conditions that do not affect intellect and have treatment available are not common.
    References

    NHGRI GWAS Catalog

    show more
    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, p14 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
    tat HIV-1 Tat downregulates the amount of TERT component in the nucleus, where this subunit is required for telomere elongation PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_003210.1 NP_006375.1 CIB1    BIND  PubMed KIP interacts with hTERT. 
    O14746 P00519 ABL1    HPRD  PubMed  
    O14746 P31749 AKT1    HPRD  PubMed  
    O14746 Q99828 CIB1    HPRD  PubMed  
    O14746 P07900 HSP90AA1    HPRD  PubMed  
    O14746 Q96EZ8 MCRS1    HPRD  PubMed  
    O14746 P42345 MTOR    HPRD  PubMed  
    O14746 P19338 NCL    HPRD  PubMed  
    O14746 Q96BK5 PINX1    HPRD  PubMed  
    O14746 P17252 PRKCA    HPRD  PubMed  
    O14746 Q15185 PTGES3    HPRD  PubMed  
    O14746 Q04206 RELA    HPRD  PubMed  
    O14746 P23443 RPS6KB1    HPRD  PubMed  
    O14746 Q9UPR3 SMG5    HPRD  PubMed  
    O14746 Q86US8 SMG6    HPRD  PubMed  
    O14746 P12931 SRC    HPRD  PubMed  
    O14746 Q99973 TEP1    HPRD  PubMed  
    O14746 O14746 TERT    HPRD  PubMed  
    O14746 O14773 TPP1    HPRD  PubMed  
    O14746 O14980 XPO1    HPRD  PubMed  
    O14746 P13010 XRCC5    HPRD  PubMed  
    O14746 P12956 XRCC6    HPRD  PubMed  
    O14746 P27348 YWHAQ    HPRD  PubMed  
    BioGRID:112874 BioGRID:106710 AKT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:115774 CIB1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112874 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:108080 DKC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:114023 DYRK2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:112874 BioGRID:120037 GNL3L    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:109535 HSPA1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:115710 MCRS1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:110358 MDM2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:112874 BioGRID:117141 MKRN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:108757 MTOR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:123170 MUS81    BioGRID  PubMed Synthetic Rescue 
    BioGRID:112874 BioGRID:120521 NAT10    BioGRID  PubMed Affinity Capture-Western 
    NP_005372.2 NCL    BIND  PubMed nucleolin interacts with hTERT. 
    BioGRID:112874 BioGRID:110771 NCL    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:120319 PINX1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:111384 PML    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:117417 POT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:115952 PTGES3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    NP_068810.2 RELA    BIND  PubMed An unspecified isoform of TERT (hTERT) interacts with RELA (p65). 
    BioGRID:112874 BioGRID:111902 RELA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:112112 RPS6KB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:114166 RUVBL1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:112874 BioGRID:116067 RUVBL2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation 
    BioGRID:112874 BioGRID:116957 SMG5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112874 BioGRID:116888 SMG6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:115563 STUB1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:112870 TEP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:112871 TERC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:112872 TERF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:112874 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:115791 UBD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:112874 BioGRID:119501 UBR5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:115079 VPRBP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:112874 BioGRID:113353 XRCC5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:108822 XRCC6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:112874 BioGRID:116168 YWHAQ    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:112874 BioGRID:113366 YWHAZ    BioGRID  PubMed Two-hybrid 

    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 
    Process Evidence Code Pubs
    DNA strand elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    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 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 RefSeqGene

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

    mRNA and Protein(s)

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

      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 (2) summary
      cd01648
      Location:825884
      Blast Score: 164
      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 ...
      smart00975
      Location:460594
      Blast Score: 503
      Telomerase_RBD; Telomerase ribonucleoprotein complex - RNA binding domain
    2. NM_198253.2NP_937983.2  telomerase reverse transcriptase isoform 1

      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 (2) summary
      cd01648
      Location:825936
      Blast Score: 263
      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 ...
      smart00975
      Location:460594
      Blast Score: 505
      Telomerase_RBD; Telomerase ribonucleoprotein complex - RNA binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p10 Primary Assembly

      Range
      1253282..1295162, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

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

    Alternate CHM1_1.0

    Genomic

    1. NC_018916.1 Alternate CHM1_1.0

      Range
      1219802..1260643, 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.

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