TERT
Telomerase reverse transcriptase
Also known as: EST2, hEST2, TCS1, TERT_HUMAN, TP2, TRT
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14746
- Gene
- TERT
- Ensembl
- ENSG00000164362
- Chromosome
- 5
- Canonical length
- 1132 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Nuclear speckles,Cytosol
OverviewNCBI Gene
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. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1132 residues, UniProt reviewed canonical sequence.
>O14746|TERT
1 MPRAPRCRAV RSLLRSHYRE VLPLATFVRR LGPQGWRLVQ RGDPAAFRAL VAQCLVCVPW
61 DARPPPAAPS FRQVSCLKEL VARVLQRLCE RGAKNVLAFG FALLDGARGG PPEAFTTSVR
121 SYLPNTVTDA LRGSGAWGLL LRRVGDDVLV HLLARCALFV LVAPSCAYQV CGPPLYQLGA
181 ATQARPPPHA SGPRRRLGCE RAWNHSVREA GVPLGLPAPG ARRRGGSASR SLPLPKRPRR
241 GAAPEPERTP VGQGSWAHPG RTRGPSDRGF CVVSPARPAE EATSLEGALS GTRHSHPSVG
301 RQHHAGPPST SRPPRPWDTP CPPVYAETKH FLYSSGDKEQ LRPSFLLSSL RPSLTGARRL
361 VETIFLGSRP WMPGTPRRLP RLPQRYWQMR PLFLELLGNH AQCPYGVLLK THCPLRAAVT
421 PAAGVCAREK PQGSVAAPEE EDTDPRRLVQ LLRQHSSPWQ VYGFVRACLR RLVPPGLWGS
481 RHNERRFLRN TKKFISLGKH AKLSLQELTW KMSVRDCAWL RRSPGVGCVP AAEHRLREEI
541 LAKFLHWLMS VYVVELLRSF FYVTETTFQK NRLFFYRKSV WSKLQSIGIR QHLKRVQLRE
601 LSEAEVRQHR EARPALLTSR LRFIPKPDGL RPIVNMDYVV GARTFRREKR AERLTSRVKA
661 LFSVLNYERA RRPGLLGASV LGLDDIHRAW RTFVLRVRAQ DPPPELYFVK VDVTGAYDTI
721 PQDRLTEVIA SIIKPQNTYC VRRYAVVQKA AHGHVRKAFK SHVSTLTDLQ PYMRQFVAHL
781 QETSPLRDAV VIEQSSSLNE ASSGLFDVFL RFMCHHAVRI RGKSYVQCQG IPQGSILSTL
841 LCSLCYGDME NKLFAGIRRD GLLLRLVDDF LLVTPHLTHA KTFLRTLVRG VPEYGCVVNL
901 RKTVVNFPVE DEALGGTAFV QMPAHGLFPW CGLLLDTRTL EVQSDYSSYA RTSIRASLTF
961 NRGFKAGRNM RRKLFGVLRL KCHSLFLDLQ VNSLQTVCTN IYKILLLQAY RFHACVLQLP
1021 FHQQVWKNPT FFLRVISDTA SLCYSILKAK NAGMSLGAKG AAGPLPSEAV QWLCHQAFLL
1081 KLTRHRVTYV PLLGSLRTAQ TQLSRKLPGT TLTALEAAAN PALPSDFKTI LDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TERT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 0.2 nTPM
Expression across tissuesHPA
Tissue
- testis: 0.2 nTPM
- duodenum: 0.1 nTPM
- lymph node: 0.1 nTPM
- thymus: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
Single-cell type
- differentiating spermatogonia: 12 nCPM
- early primary spermatocytes: 11 nCPM
- undifferentiated spermatogonia: 9.6 nCPM
- plasma cells: 5.4 nCPM
- paneth cells: 3.9 nCPM
- enteric transient amplifying cells: 2.8 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TERT.
Disease | AllUniProt
Conditions TERT is implicated in, by any mechanism.
- Aplastic anemia (AA) MIM:609135
- Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) MIM:613989
- Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) MIM:614742
- Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) MIM:613989
- Melanoma, cutaneous malignant 9 (CMM9) MIM:615134
Disease | GeneticClinVar
166 pathogenic / likely-pathogenic of 3,784 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Dyskeratosis congenita, autosomal dominant 2
- Idiopathic Pulmonary Fibrosis
- Dyskeratosis congenita
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Pulmonary fibrosis
Disease | ImmuneIEDB
Conditions an epitope on TERT was assayed in.
- lung non-small cell carcinoma T cell
- prostate cancer T cell
- cancer T cell
- hepatocellular carcinoma T cell
- skin melanoma B and T cell
- melanoma T cell
- adult hepatocellular carcinoma T cell
- hepatitis T cell
- multiple myeloma T cell
- pancreatic adenocarcinoma T cell
- pancreatic cancer T cell
- cholangiocarcinoma T cell
- lung cancer T cell
- T-cell adult acute lymphocytic leukemia T cell
- ovary epithelial cancer T cell
- chronic myeloid leukemia T cell
- breast cancer T cell
- lung non-squamous non-small cell carcinoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 4.88
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to hypoxia
- DNA biosynthetic process
- establishment of protein localization to telomere
- heart development
- mitochondrion organization
- negative regulation of cellular senescence
- negative regulation of endothelial cell apoptotic process
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- negative regulation of neuron apoptotic process
- positive regulation of angiogenesis
- positive regulation of D-glucose import
- positive regulation of G1/S transition of mitotic cell cycle
- positive regulation of hair cycle
- positive regulation of miRNA transcription
- positive regulation of protein localization to nucleolus
- positive regulation of stem cell proliferation
- positive regulation of vascular associated smooth muscle cell migration
- positive regulation of vascular associated smooth muscle cell proliferation
- positive regulation of Wnt signaling pathway
- protein import into nucleus
- regulation of protein stability
- replicative senescence
- response to cadmium ion
- RNA-templated DNA biosynthetic process
- siRNA processing
- telomere maintenance
- telomere maintenance via recombination
- telomere maintenance via telomerase
- DNA strand elongation
- positive regulation of transdifferentiation
- RNA-templated transcription
- siRNA transcription
Molecular functions
- DNA binding
- identical protein binding
- metal ion binding
- protein homodimerization activity
- protein-folding chaperone binding
- RNA binding
- RNA-directed DNA polymerase activity
- RNA-directed RNA polymerase activity
- telomerase activity
- telomerase RNA binding
- telomeric DNA binding
- transcription coactivator binding
- tRNA binding
- template-free RNA nucleotidyltransferase
Cellular components
- chromosome, telomeric region
- cytosol
- mitochondrial nucleoid
- nuclear speck
- nuclear telomere cap complex
- nucleolus
- nucleoplasm
- nucleus
- plasma membrane
- PML body
- telomerase holoenzyme complex
- RNA-directed RNA polymerase complex
- telomerase catalytic core complex
- TERT-RMRP complex
Protein domainsUniProt · Pfam · InterPro
- Reverse transcriptase domain
- DNA/RNA polymerase superfamily
- Telomerase reverse transcriptase
- Telomerase ribonucleoprotein complex - RNA-binding domain
- Telomerase reverse transcriptase, C-terminal extension
- Telomerase ribonucleoprotein complex - RNA binding domain
- Telomerase reverse transcriptase, C-terminal extension
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TERT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TERT as an antibody target. Whether an autoantibody or antibody against TERT could matter depends on whether native TERT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TERT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TERT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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