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TERT telomerase reverse transcriptase [ Homo sapiens (human) ]

Gene ID: 7015, updated on 16-Apr-2024

Summary

Official Symbol
TERTprovided by HGNC
Official Full Name
telomerase reverse transcriptaseprovided by HGNC
Primary source
HGNC:HGNC:11730
See related
Ensembl:ENSG00000164362 MIM:187270; AllianceGenome:HGNC:11730
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]
Expression
Low expression observed in reference dataset See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TERT in Genome Data Viewer
Location:
5p15.33
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1253167..1295068, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1160074..1202878, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1253282..1295183, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1204178-1204741 Neighboring gene solute carrier family 6 member 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1225890-1226432 Neighboring gene solute carrier family 6 member 18 Neighboring gene MNS16A minisatellite promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1264322-1264939 Neighboring gene Sharpr-MPRA regulatory region 13256 Neighboring gene TERT enhancer in intron 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1290609-1291360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1291361-1292111 Neighboring gene TERT 5' regulatory region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22307 Neighboring gene microRNA 4457 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:1320136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1325297-1325797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:1327650-1328264 Neighboring gene CLPTM1 like Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:1328265-1328877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:1330840 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:1341101

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acute myeloid leukemia Compare labs
Aplastic anemia
MedGen: C0002874 OMIM: 609135 GeneReviews: Not available
Compare labs
Dyskeratosis congenita, autosomal dominant 1 Compare labs
Dyskeratosis congenita, autosomal dominant 2 Compare labs
Interstitial lung disease 2 Compare labs
Melanoma, cutaneous malignant, susceptibility to, 9
MedGen: C3554574 OMIM: 615134 GeneReviews: Not available
Compare labs
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Compare labs

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables RNA-dependent RNA polymerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA-directed DNA polymerase activity TAS
Traceable Author Statement
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-folding chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables telomerase RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables telomerase RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables telomerase RNA binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables telomerase RNA reverse transcriptase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables telomerase RNA reverse transcriptase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables telomerase RNA reverse transcriptase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables telomerase RNA reverse transcriptase activity TAS
Traceable Author Statement
more info
PubMed 
enables telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables telomerase activity TAS
Traceable Author Statement
more info
PubMed 
enables telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables template-free RNA nucleotidyltransferase IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription coactivator binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in DNA strand elongation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in RNA-templated DNA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in RNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of protein localization to telomere IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitochondrion organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of endothelial cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of glucose import IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of hair cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of miRNA transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of nitric-oxide synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein localization to nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of stem cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transdifferentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of vascular associated smooth muscle cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of vascular associated smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein stability IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in replicative senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in siRNA processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in siRNA transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in telomere maintenance TAS
Traceable Author Statement
more info
PubMed 
involved_in telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
involved_in telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in telomere maintenance via telomerase NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with PML body IDA
Inferred from Direct Assay
more info
PubMed 
part_of RNA-directed RNA polymerase complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of TERT-RMRP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of TERT-RMRP complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in chromosome, telomeric region IC
Inferred by Curator
more info
PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
part_of nuclear telomere cap complex IC
Inferred by Curator
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
part_of telomerase catalytic core complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of telomerase catalytic core complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of telomerase catalytic core complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of telomerase catalytic core complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of telomerase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of telomerase holoenzyme complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of telomerase holoenzyme complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of telomerase holoenzyme complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
telomerase reverse transcriptase
Names
telomerase catalytic subunit
telomerase-associated protein 2
NP_001180305.1
NP_937983.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001193376.3NP_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
    ENSP00000334346.6, ENST00000334602.10
    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_198253.3NP_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 longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC114291, AF015950, AF018167
    Consensus CDS
    CCDS3861.2
    UniProtKB/Swiss-Prot
    O14746, O14783, Q2XS35, Q8N6C3, Q8NG38, Q8NG46
    Related
    ENSP00000309572.5, ENST00000310581.10
    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, ...

RNA

  1. NR_149162.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB086379, AC114291
  2. NR_149163.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB086950, AC114291
    Related
    ENST00000460137.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    1253167..1295068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    1160074..1202878 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.