Homo sapiens Gene: TERT
Summary
InnateDB Gene IDBG-10998.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TERT
Gene Name telomerase reverse transcriptase
Synonyms CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT; PFBMFT1; TCS1; TP2; TRT;
Species Homo sapiens
Ensembl Gene ENSG00000164362
Encoded Proteins
telomerase reverse transcriptase
telomerase reverse transcriptase
telomerase reverse transcriptase
telomerase reverse transcriptase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:1253147-1295069
Strand Reverse strand
Band p15.33
Transcripts
ENST00000310581 ENSP00000309572
ENST00000334602 ENSP00000334346
ENST00000484238
ENST00000460137 ENSP00000425003
ENST00000503656
ENST00000508104 ENSP00000426042
ENST00000522877
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 97 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 97 [view]
Protein-Protein 96 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003720 telomerase activity
GO:0003721 telomeric template RNA reverse transcriptase activity
GO:0003964 RNA-directed DNA polymerase activity
GO:0005515 protein binding
GO:0042162 telomeric DNA binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0070034 telomeric RNA binding
Biological Process
GO:0000723 telomere maintenance
GO:0007004 telomere maintenance via telomerase
GO:0022616 DNA strand elongation
GO:0032203 telomere formation via telomerase
GO:0090399 replicative senescence
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005697 telomerase holoenzyme complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016605 PML body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
IL2 pathway
REACTOME
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Signaling by Wnt pathway
Chromosome Maintenance pathway
Telomere Maintenance pathway
Signal Transduction pathway
Cell Cycle pathway
Telomere Extension By Telomerase pathway
TCF dependent signaling in response to WNT pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
formation of the beta-catenin:TCF transactivating complex pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Extension of Telomeres pathway
Disease pathway
KEGG
INOH
PID BIOCARTA
Role of nicotinic acetylcholine receptors in the regulation of apoptosis [Biocarta view]
Overview of telomerase protein component gene htert transcriptional regulation [Biocarta view]
Telomeres telomerase cellular aging and immortality [Biocarta view]
Erk1/erk2 mapk signaling pathway [Biocarta view]
PID NCI
Validated targets of C-MYC transcriptional activation
Regulation of nuclear beta catenin signaling and target gene transcription
HIF-1-alpha transcription factor network
IL2 signaling events mediated by PI3K
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.492203
RefSeq NM_001193376 NM_198253
HUGO
OMIM
CCDS CCDS3861 CCDS54831
HPRD 01754
IMGT
EMBL
GenPept
RNA Seq Atlas