Telomerase reverse transcriptase

TERT
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BCK, 4B18, 4MNQ
Identifiers
Aliases	TERT, CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT, telomerase reverse transcriptase, HTERT
External IDs	OMIM: 187270; MGI: 1202709; HomoloGene: 31141; GeneCards: TERT; OMA:TERT - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p15.33 Start 1,253,147 bp[1] End 1,295,068 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 C1|13 40.12 cM Start 73,775,030 bp[2] End 73,797,962 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium thymus cardia tongue vein mucosa of pharynx external globus pallidus pylorus superior surface of tongue pars reticulata Top expressed in Paneth cell primary oocyte epithelium of small intestine secondary oocyte medullary collecting duct tail of embryo condyle fossa genital tubercle otic vesicle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity DNA binding nucleotidyltransferase activity telomeric DNA binding tRNA binding metal ion binding RNA-directed 5'-3' RNA polymerase activity telomerase RNA reverse transcriptase activity protein binding transcription coactivator binding telomerase RNA binding telomerase activity protein homodimerization activity chaperone binding template-free RNA nucleotidyltransferase RNA binding protein C-terminus binding protein N-terminus binding identical protein binding reverse transcriptase RNA-directed DNA polymerase activity Cellular component cytoplasm PML body nuclear telomere cap complex RNA-directed RNA polymerase complex nucleoplasm chromosome telomere telomerase catalytic core complex nucleolus mitochondrion TERT-RMRP complex mitochondrial nucleoid nucleus plasma membrane telomerase holoenzyme complex cytosol nuclear speck Biological process positive regulation of protein localization to nucleolus telomere maintenance via telomerase DNA biosynthetic process regulation of protein stability replicative senescence RNA-dependent DNA biosynthetic process mitochondrion organization negative regulation of gene expression transcription, RNA-templated positive regulation of Wnt signaling pathway production of siRNA involved in RNA interference positive regulation of nitric-oxide synthase activity establishment of protein localization to telomere negative regulation of production of siRNA involved in RNA interference DNA strand elongation positive regulation of protein binding negative regulation of extrinsic apoptotic signaling pathway in absence of ligand telomere maintenance RNA biosynthetic process positive regulation of pri-miRNA transcription by RNA polymerase II negative regulation of cellular senescence response to cadmium ion positive regulation of G1/S transition of mitotic cell cycle beta-catenin-TCF complex assembly negative regulation of apoptotic process positive regulation of glucose import positive regulation of angiogenesis positive regulation of vascular associated smooth muscle cell migration negative regulation of glial cell proliferation positive regulation of transdifferentiation cellular response to hypoxia positive regulation of vascular associated smooth muscle cell proliferation negative regulation of endothelial cell apoptotic process negative regulation of neuron apoptotic process positive regulation of hair cycle positive regulation of stem cell proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7015 21752 Ensembl ENSG00000164362 ENSMUSG00000021611 UniProt O14746 O70372 RefSeq (mRNA) NM_001193376 NM_198253 NM_198254 NM_198255 NM_009354 NM_001362387 NM_001362388 RefSeq (protein) NP_001180305 NP_937983 NP_033380 NP_001349316 NP_001349317 Location (UCSC) Chr 5: 1.25 – 1.3 Mb Chr 13: 73.78 – 73.8 Mb PubMed search [3] [4]
Wikidata
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Telomerase reverse transcriptase (abbreviated to TERT, or hTERT in humans) is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex.^[5][6]

Telomerases are part of a distinct subgroup of RNA-dependent polymerases. Telomerase lengthens telomeres in DNA strands, thereby allowing senescent cells that would otherwise become postmitotic and undergo apoptosis to exceed the Hayflick limit and become potentially immortal, as is often the case with cancerous cells. To be specific, TERT is responsible for catalyzing the addition of nucleotides in a TTAGGG sequence to the ends of a chromosome's telomeres.^[7] This addition of repetitive DNA sequences prevents degradation of the chromosomal ends following multiple rounds of replication.^[8]

hTERT absence (usually as a result of a chromosomal mutation) is associated with the disorder Cri du chat.^[9][10]