TERT

Telomerase reverse transcriptase ;
HEST2 ;
Telomerase catalytic subunit ;
Telomerase-associated protein 2 ;
TP2 ;

catalytic activity:Deoxynucleoside triphosphate + DNA (n) = diphosphate + DNA (n+1) . ,disease:Activation of telomerase has been implicated in cell immortalization and cancer cell pathogenesis. ,disease:Defects in TERT are a cause of dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]; also known as dyskeratosis congenita Scoggins type. ADDKC is a rare , progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation , nail dystrophy , and mucosal leukoplakia. Early mortality is often associated with bone marrow failure , infections , fatal pulmonary complications , or malignancy. ,disease:Defects in TERT are associated with susceptibilty to aplastic anemia (AA) [MIM:609135]. AA is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. In most patients , the stem cell lesion is caused by an autoimmune attack. T-lymphocytes , activated by an endogenous or exogenous , and most often unknown antigenic stimulus , secrete cytokines , including IFN-gamma , which would in turn be able to suppress hematopoiesis. ,disease:Defects in TERT increases susceptibility to idiopathic pulmonary fibrosis [MIM:178500]. Idiopathic pulmonary fibrosis is an adult-onset , lethal , scarring lung disease of unknown etiology. Its clinical features are shortness of breath , radiographically evident diffuse pulmonary infiltrates , and varying degrees in inflammation , fibrosis , or both on biopsy. It is rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and endstage lung disease. ,disease:Genetic variations in TERT are associated with coronary artery disease (CAD) . ,function:Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. ,similarity:Belongs to the reverse transcriptase family. Telomerase subfamily. ,similarity:Contains 1 reverse transcriptase domain. ,subunit:Catalytic subunit of the telomerase holoenzyme complex at least composed of TERT , DKC1 , WDR79/TCAB1 , NOP10 , NHP2 , GAR1 , TEP1 , EST1A , POT1 and a telomerase RNA template component (TERC) . Interacts with PINX1 and MCRS1. ,

telomere maintenance , DNA metabolic process , DNA replication , RNA-dependent DNA replication , anti-apoptosis ,telomere maintenance via telomerase , aging , senescence , telomere maintenance via telomere lengthening , regulation of cell death , DNA strand elongation , telomere organization , telomere assembly , telomere formation via telomerase ,homeostatic process , regulation of apoptosis , negative regulation of apoptosis , regulation of programmed cell death ,negative regulation of programmed cell death , chromosome organization , anatomical structure homeostasis , negative regulation of cell death ,

Nucleus , nucleolus . Nucleus , nucleoplasm. Nucleus. Chromosome , telomere. Cytoplasm. Nucleus , PML body. Shuttling between nuclear and cytoplasm depends on cell cycle , phosphorylation states , transformation and DNA damage. Diffuse localization in the nucleoplasm. Enriched in nucleoli of certain cell types. Translocated to the cytoplasm via nuclear pores in a CRM1/RAN-dependent manner involving oxidative stress-mediated phosphorylation at Tyr-707. Dephosphorylation at this site by SHP2 retains TERT in the nucleus. Translocated to the nucleus by phosphorylation by AKT.