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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]
TERT (Telomerase Reverse Transcriptase) is a Protein Coding gene. Diseases associated with TERT include Dyskeratosis Congenita, Autosomal Dominant 2 and Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and tRNA binding.
Telomerase is a ribonucleoprotein composed of an internal telomerase RNA template (TERC) and the enzyme, telomerase reverse transcriptase (TERT). Telomerase adds repeat sequences of DNA (TTAGGG) to the end of chromosomes - multiple repeats of this are a 'telomere'.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000049 | tRNA binding | IDA | 21937513 |
GO:0001223 | transcription coactivator binding | IPI | 19571879 |
GO:0003677 | DNA binding | IDA | 21937513 |
GO:0003720 | telomerase activity | TAS | 11927518 |
GO:0003721 | telomerase RNA reverse transcriptase activity | IBA,TAS | 14991929 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000333 | telomerase catalytic core complex | IBA,IPI | 19701182 |
GO:0000781 | chromosome, telomeric region | IEA,IC | 12135483 |
GO:0000783 | nuclear telomere cap complex | IC | 15632080 |
GO:0000784 | nuclear chromosome, telomeric region | IDA | 25589350 |
GO:0005634 | nucleus | IEA,IDA | 21829167 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gastric cancer |
.62
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2 | Chromosome Maintenance | ||
3 | Telomere C-strand (Lagging Strand) Synthesis | ||
4 | Signaling by Wnt |
.71
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5 | PI3K-Akt signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000723 | telomere maintenance | TAS | 12135483 |
GO:0001172 | transcription, RNA-templated | IDA | 19701182 |
GO:0006278 | RNA-dependent DNA biosynthetic process | IDA | 9398860 |
GO:0007004 | telomere maintenance via telomerase | TAS | -- |
GO:0007005 | mitochondrion organization | IDA | 21937513 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zidovudine | Approved | Pharma | Target, inhibitor | 506 | ||
Temozolomide | Approved, Investigational | Pharma | Alkylating Agents | 892 | ||
Efavirenz | Approved, Investigational | Pharma | Reverse transcriptase inhibitor | 441 | ||
Rilpivirine | Approved | Pharma | Inhibitor of next-generation nonnucleoside reverse transcriptase | 117 | ||
Phosphoric acid | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
|||
BRACO 19 trihydrochloride |
|
1177798-88-7 |
|
|
Compound | Action | Cas Number |
---|---|---|
BIBR 1532 | Selective telomerase inhibitor | 321674-73-1 |
BRACO 19 trihydrochloride | Telomerase inhibitor | 1177798-88-7 |
Costunolide | Inhibitor of human telomerase activity | 553-21-9 |
Compound | Action | Cas Number |
---|---|---|
BIBR 1532 | Telomerase inhibitor,novel and selective | 321674-73-1 |
Costunolide | BMM differentiation inhibitor | 553-21-9 |
Efavirenz | Reverse transcriptase inhibitor | 154598-52-4 |
Rilpivirine | Inhibitor of next-generation nonnucleoside reverse transcriptase | 500287-72-9 |
TMPyP4 tosylate | 36951-72-1 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TERT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TERT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TERT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tert 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tert 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TERT 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TERT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TERT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TERT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tert 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | tert-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tert 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EST2 31 33 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635412 | Pathogenic: Dyskeratosis congenita | 1,280,312(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
635413 | Pathogenic: Dyskeratosis congenita | 1,264,408(-) | A/G | MISSENSE_VARIANT,INTRON_VARIANT | |
635414 | Pathogenic: Dyskeratosis congenita | 1,253,781(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
636733 | Uncertain Significance: not provided | 1,282,522(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
638818 | Uncertain Significance: Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Idiopathic fibrosing alveolitis, chronic form | 1,293,984(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
dyskeratosis congenita, autosomal dominant 2 |
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pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 |
|
|
melanoma, cutaneous malignant 9 |
|
|
dyskeratosis congenita |
|
|
leukemia, acute myeloid |
|