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
  • susceptibilty to aplastic anemia
  • susceptibility to idiopathic pulmonary fibrosis
  • autosomal dominant dyskeratosis congenita
• genetic variations in TERT are associated with coronary artery disease

Polymorphism

• polymorphism(s) in TERT may be associated with longevity

More general terms

• reverse transcriptase (SuperScript)
• enzyme catalytic subunit
• phosphoprotein

Component of

• telomerase

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7015
• OMIM: https://mirror.omim.org/entry/127550
• OMIM: https://mirror.omim.org/entry/178500
• OMIM: https://mirror.omim.org/entry/187270
• UniProt: http://www.uniprot.org/uniprot/O14746.html