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telomerase catalytic chain or telomerase reverse transcriptase
Function:
- catalytic component of the telomerase ribonucleoprotein complex
- interacts with PINX1 & MCRS1
- phosphorylated on Ser-797
Structure:
- belongs to the reverse transcriptase family, telomerase subfamily
- contains 1 reverse transcriptase domain
Compartment: nucleus
Alternative splicing: named isoforms=3
Pathology:
- activation of telomerase has been implicated in cell immortalization & cancer cell pathogenesis
- defects in TERT are associated with
a) susceptibilty to aplastic anemia
b) susceptibility to idiopathic pulmonary fibrosis
c) autosomal dominant dyskeratosis congenita
- genetic variations in TERT are associated with coronary artery disease
Polymorphism:
- polymorphism(s) in TERT may be associated with longevity [2]
General
enzyme catalytic subunit
phosphoprotein
reverse transcriptase (SuperScript)
Properties
SIZE: entity length = 1132 aa
MW = 127 kD
COMPARTMENT: cell nucleus
MOTIF: Reverse transcriptase {605-935}
Thr phosphorylation site {T1113}
Ser phosphorylation site {S1125}
Database Correlations
OMIM correlations
MORBIDMAP 187270
UniProt O14746
Pfam PF00078
Kegg hsa:7015
ENZYME 2.7.7.49
References
- UniProt :accession O14746
- Soerensen M.
Genetic variation and human longevity.
Dan Med J. 2012 May;59(5):B4454.
PMID: 22549493
Component-of
telomerase