InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-11002

telomerase reverse transcriptase

IDBP-11004

telomerase reverse transcriptase

IDBP-474262

telomerase reverse transcriptase

IDBP-484618

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