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TERT

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.
Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Spermatogonia, Plasma cells, Spermatocytes, Cardiomyocytes, Intestinal goblet cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (ASC TERT1, fHDF/TERT166, HBEC3-KT, hTEC/SVTERT24-B, LHCN-M2, TIME)

Interaction

Catalytic component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:19179534, 20351177, 29695869). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534). The molecular chaperone HSP90/P23 complex is required for correct assembly and stabilization of the active telomerase (PubMed:11274138). Interacts directly with HSP90A and PTGES3 (PubMed:11274138). Interacts with HSPA1A; the interaction occurs in the absence of TERC and dissociates once the complex has formed (PubMed:11274138). Interacts with RAN; the interaction promotes nuclear export of TERT (PubMed:12808100). Interacts with XPO1 (PubMed:12808100). Interacts with PTPN11; the interaction retains TERT in the nucleus (PubMed:18829466). Interacts with NCL (via RRM1 and C-terminal RRM4/Arg/Gly-rich domains); the interaction is important for nucleolar localization of TERT (PubMed:15371412). Interacts with SMARCA4 (via the bromodomain); the interaction regulates Wnt-mediated signaling (By similarity). Interacts with MCRS1 (isoform MCRS2); the interaction inhibits in vitro telomerase activity (PubMed:15044100). Interacts with PIF1; the interaction has no effect on the elongation activity of TERT (By similarity). Interacts with PML; the interaction recruits TERT to PML bodies and inhibits telomerase activity (PubMed:19567472). Interacts with GNL3L (By similarity). Interacts with isoform 1 and isoform 2 of NVL (PubMed:22226966). Interacts with DHX36 (PubMed:21846770). Interacts with ATF7 (PubMed:29490055).

Molecular function

DNA-binding, Nucleotidyltransferase, Ribonucleoprotein, RNA-directed DNA polymerase, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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