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Description for Protein TERT

telomerase reverse transcriptase
29 total interacting proteins; 16 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.7.7.49
KEGG - Orthology:
K11126
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Telomerase catalytic subunit; TCS1; EST2; hTERT; hEST2; TRT; TP2; Telomerase associated protein 2; EC 2.7.7.49; Telomerase reverse transcriptase isoform 2; Telomerase reverse transcriptase isoform 3
Approved Symbol:
TERT
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 10
Human (de-) phosphorylation sites: 10; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Aplastic anemia, susceptibility to(Pd);
  • Coronary artery disease, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01754 Entrez Gene ID: 7015 OMIM ID: 187270 Swissprot Accession: O14746; Q8NG38;