TERT
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| telomerase reverse transcriptase | MIM:187270 | Ensembl:ENSG00000164362 | HGNC:HGNC:11730 | PA36447 | 5p15.33 |
GO terms in TERT
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0000723 | telomere maintenance |
| BP | IDA | GO:0001172 | transcription, RNA-templated |
| BP | IDA | GO:0006278 | RNA-dependent DNA biosynthetic process |
| BP | IBA | GO:0007004 | telomere maintenance via telomerase |
| BP | IDA | GO:0007004 | telomere maintenance via telomerase |
| BP | IMP | GO:0007004 | telomere maintenance via telomerase |
| BP | NAS | GO:0007004 | telomere maintenance via telomerase |
| BP | TAS | GO:0007004 | telomere maintenance via telomerase |
| BP | IDA | GO:0007005 | mitochondrion organization |
| BP | IDA | GO:0010629 | negative regulation of gene expression |
| BP | IDA | GO:0022616 | DNA strand elongation |
| BP | IGI | GO:0030177 | positive regulation of Wnt signaling pathway |
| BP | IDA | GO:0030422 | production of siRNA involved in RNA interference |
| BP | IDA | GO:0031647 | regulation of protein stability |
| BP | IMP | GO:0031647 | regulation of protein stability |
| BP | IDA | GO:0032092 | positive regulation of protein binding |
| BP | IDA | GO:0032774 | RNA biosynthetic process |
| BP | ISS | GO:0042635 | positive regulation of hair cycle |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IEA | GO:0045766 | positive regulation of angiogenesis |
| BP | IEA | GO:0046326 | positive regulation of glucose import |
| BP | IEA | GO:0046686 | response to cadmium ion |
| BP | IDA | GO:0051000 | positive regulation of nitric-oxide synthase activity |
| BP | IEA | GO:0060253 | negative regulation of glial cell proliferation |
| BP | IDA | GO:0070200 | establishment of protein localization to telomere |
| BP | IMP | GO:0071456 | cellular response to hypoxia |
| BP | IDA | GO:0071897 | DNA biosynthetic process |
| BP | IMP | GO:0090399 | replicative senescence |
| BP | IEA | GO:1900087 | positive regulation of G1/S transition of mitotic cell cycle |
| BP | IMP | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II |
| BP | IEA | GO:1903620 | positive regulation of transdifferentiation |
| BP | IDA | GO:1903704 | negative regulation of production of siRNA involved in RNA interference |
| BP | IEA | GO:1904707 | positive regulation of vascular smooth muscle cell proliferation |
| BP | IDA | GO:1904751 | positive regulation of protein localization to nucleolus |
| BP | IEA | GO:1904754 | positive regulation of vascular associated smooth muscle cell migration |
| BP | TAS | GO:1904837 | beta-catenin-TCF complex assembly |
| BP | IEA | GO:2000352 | negative regulation of endothelial cell apoptotic process |
| BP | ISS | GO:2000648 | positive regulation of stem cell proliferation |
| BP | IDA | GO:2000773 | negative regulation of cellular senescence |
| BP | IMP | GO:2000773 | negative regulation of cellular senescence |
| BP | IMP | GO:2001240 | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand |
| CC | IBA | GO:0000333 | telomerase catalytic core complex |
| CC | IDA | GO:0000333 | telomerase catalytic core complex |
| CC | IMP | GO:0000333 | telomerase catalytic core complex |
| CC | IPI | GO:0000333 | telomerase catalytic core complex |
| CC | IC | GO:0000781 | chromosome, telomeric region |
| CC | IC | GO:0000783 | nuclear telomere cap complex |
| CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005697 | telomerase holoenzyme complex |
| CC | IPI | GO:0005697 | telomerase holoenzyme complex |
| CC | TAS | GO:0005697 | telomerase holoenzyme complex |
| CC | IDA | GO:0005730 | nucleolus |
| CC | NAS | GO:0005730 | nucleolus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0016605 | PML body |
| CC | IDA | GO:0016607 | nuclear speck |
| CC | IPI | GO:0031379 | RNA-directed RNA polymerase complex |
| CC | IDA | GO:0042645 | mitochondrial nucleoid |
| CC | IDA | GO:1990572 | TERT-RMRP complex |
| MF | IDA | GO:0000049 | tRNA binding |
| MF | IPI | GO:0001223 | transcription coactivator binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003720 | telomerase activity |
| MF | TAS | GO:0003720 | telomerase activity |
| MF | IBA | GO:0003721 | telomerase RNA reverse transcriptase activity |
| MF | IDA | GO:0003721 | telomerase RNA reverse transcriptase activity |
| MF | IMP | GO:0003721 | telomerase RNA reverse transcriptase activity |
| MF | TAS | GO:0003721 | telomerase RNA reverse transcriptase activity |
| MF | IPI | GO:0003723 | RNA binding |
| MF | IDA | GO:0003964 | RNA-directed DNA polymerase activity |
| MF | TAS | GO:0003964 | RNA-directed DNA polymerase activity |
| MF | IDA | GO:0003968 | RNA-directed 5'-3' RNA polymerase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IDA | GO:0016779 | nucleotidyltransferase activity |
| MF | IBA | GO:0042162 | telomeric DNA binding |
| MF | TAS | GO:0042162 | telomeric DNA binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0047485 | protein N-terminus binding |
| MF | IPI | GO:0051087 | chaperone binding |
| MF | IBA | GO:0070034 | telomerase RNA binding |
| MF | IDA | GO:0070034 | telomerase RNA binding |
| MF | IPI | GO:0070034 | telomerase RNA binding |
| MF | IDA | GO:0098680 | template-free RNA nucleotidyltransferase |
Gene expression in normal tissue: TERT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TERT
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | achpathway | role of nicotinic acetylcholine receptors in the regulation of apoptosis |
| biocarta | erkpathway | erk1/erk2 mapk signaling pathway |
| biocarta | telpathway | telomeres telomerase cellular aging and immortality |
| biocarta | tertpathway | overview of telomerase protein component gene htert transcriptional regulation |
| reactome | R-HSA-157579 | Telomere Maintenance |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-171319 | Telomere Extension By Telomerase |
| reactome | R-HSA-180786 | Extension of Telomeres |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-201722 | Formation of the beta-catenin:TCF transactivating complex |
| reactome | R-HSA-73886 | Chromosome Maintenance |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP3624 | Lung fibrosis |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| netpath | Pathway_IL2 | IL2 |
| pid | betacatenin_nuc_pathway | Regulation of nuclear beta catenin signaling and target gene transcription |
| pid | hif1_tfpathway | HIF-1-alpha transcription factor network |
| pid | il2_pi3kpathway | IL2 signaling events mediated by PI3K |
| pid | myc_activpathway | Validated targets of C-MYC transcriptional activation |
| pid | telomerasepathway | Regulation of Telomerase |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD369 | TGX-115 | 3 |
| iGMDRD200 | STF62247 | 1 |
| iGMDRD872 | BRD7137 | 6 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD521 | eribulin | 2 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD672 | Alectinib | 1 |
| iGMDRD121 | GMX1778 | 4 |
| iGMDRD700 | AUY922 | 1 |
| iGMDRD154 | NSC23766 | 1 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD163 | all trans Retinoic Acid | 1 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD126 | Tipifarnib | 1 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD749 | ZINC6718453 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TERT
CLASSFICATION
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