Details for: TERT

Gene ID: 7015

Symbol: TERT

Ensembl ID: ENSG00000164362

Description: telomerase reverse transcriptase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 8.4370
    Cell Significance Index: -2.1400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 1.8087
    Cell Significance Index: -2.2300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.2747
    Cell Significance Index: 78.1500
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.6917
    Cell Significance Index: 7.8300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6373
    Cell Significance Index: 63.0400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5238
    Cell Significance Index: 99.6900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4170
    Cell Significance Index: 10.1000
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.3318
    Cell Significance Index: 4.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3003
    Cell Significance Index: 48.8400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2942
    Cell Significance Index: 32.0000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2634
    Cell Significance Index: 237.8200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2610
    Cell Significance Index: 15.6700
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.2554
    Cell Significance Index: 3.3400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.2472
    Cell Significance Index: 3.4700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.1675
    Cell Significance Index: 2.3800
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.1384
    Cell Significance Index: 1.1500
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.1294
    Cell Significance Index: 1.6400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1209
    Cell Significance Index: 4.5800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1195
    Cell Significance Index: 8.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0922
    Cell Significance Index: 3.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0904
    Cell Significance Index: 4.0000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0845
    Cell Significance Index: 3.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0833
    Cell Significance Index: 2.4000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0579
    Cell Significance Index: 6.8300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0542
    Cell Significance Index: 10.7600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0373
    Cell Significance Index: 25.7900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.0356
    Cell Significance Index: 0.9100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0277
    Cell Significance Index: 0.5900
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0272
    Cell Significance Index: 0.3900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0271
    Cell Significance Index: 3.1600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0208
    Cell Significance Index: 1.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0202
    Cell Significance Index: 0.5600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0124
    Cell Significance Index: 0.3100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0108
    Cell Significance Index: 2.1600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0072
    Cell Significance Index: 0.1500
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.0059
    Cell Significance Index: 0.0500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0049
    Cell Significance Index: 0.0700
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.0033
    Cell Significance Index: 0.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0007
    Cell Significance Index: -1.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0012
    Cell Significance Index: -2.2600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0013
    Cell Significance Index: -2.0700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0014
    Cell Significance Index: -0.7500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0018
    Cell Significance Index: -2.4300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0036
    Cell Significance Index: -2.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0040
    Cell Significance Index: -2.5100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0042
    Cell Significance Index: -0.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0047
    Cell Significance Index: -2.6700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0049
    Cell Significance Index: -1.4000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0050
    Cell Significance Index: -2.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0051
    Cell Significance Index: -1.8200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0110
    Cell Significance Index: -1.9800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0116
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0127
    Cell Significance Index: -2.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0130
    Cell Significance Index: -2.2200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0136
    Cell Significance Index: -0.3700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0137
    Cell Significance Index: -1.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0145
    Cell Significance Index: -1.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0175
    Cell Significance Index: -2.0100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0189
    Cell Significance Index: -2.3300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0195
    Cell Significance Index: -0.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0206
    Cell Significance Index: -2.1500
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.0219
    Cell Significance Index: -0.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0228
    Cell Significance Index: -0.7300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0228
    Cell Significance Index: -0.2500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0251
    Cell Significance Index: -1.0900
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0286
    Cell Significance Index: -0.1500
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0288
    Cell Significance Index: -0.3500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0309
    Cell Significance Index: -0.7700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0319
    Cell Significance Index: -0.5500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0326
    Cell Significance Index: -1.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0326
    Cell Significance Index: -0.8400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0344
    Cell Significance Index: -0.5800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0360
    Cell Significance Index: -0.9800
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0373
    Cell Significance Index: -0.4500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0379
    Cell Significance Index: -0.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0389
    Cell Significance Index: -2.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0391
    Cell Significance Index: -2.6300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0425
    Cell Significance Index: -0.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0432
    Cell Significance Index: -0.9100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0462
    Cell Significance Index: -1.6200
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.0482
    Cell Significance Index: -0.6100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0491
    Cell Significance Index: -1.0000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0494
    Cell Significance Index: -2.3200
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: -0.0535
    Cell Significance Index: -0.5800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0537
    Cell Significance Index: -2.2000
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0557
    Cell Significance Index: -0.7700
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0565
    Cell Significance Index: -1.1100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0566
    Cell Significance Index: -2.8600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0582
    Cell Significance Index: -1.8600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0584
    Cell Significance Index: -0.8800
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.0586
    Cell Significance Index: -0.5900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0593
    Cell Significance Index: -1.9400
  • Cell Name: acinar cell (CL0000622)
    Fold Change: -0.0625
    Cell Significance Index: -0.7900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0653
    Cell Significance Index: -2.2700
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0679
    Cell Significance Index: -0.9900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0686
    Cell Significance Index: -2.5200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0687
    Cell Significance Index: -1.7500
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: -0.0695
    Cell Significance Index: -0.5300
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0699
    Cell Significance Index: -0.9500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0708
    Cell Significance Index: -1.1900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Telomerase Activity:** TERT is the catalytic subunit of telomerase, an enzyme that elongates telomeres by adding nucleotides to the 3' end of telomeric DNA. 2. **Telomere Maintenance:** TERT plays a critical role in maintaining telomeres, preventing telomere shortening and senescence. 3. **Cellular Senescence:** TERT is also involved in regulating cellular senescence, a state of permanent cell cycle arrest that occurs when telomeres become too short. 4. **Regulation of Gene Expression:** TERT regulates gene expression by binding to specific DNA sequences, influencing the expression of genes involved in cell cycle progression, apoptosis, and cellular differentiation. 5. **Cell Type-Specific Expression:** TERT is expressed in various cell types, including blood vessel endothelial cells, double negative thymocytes, and intestinal epithelial cells. **Pathways and Functions:** 1. **Cell Cycle Regulation:** TERT regulates cell cycle progression by controlling the expression of genes involved in cell cycle entry, progression, and exit. 2. **Apoptosis Regulation:** TERT modulates apoptosis by regulating the expression of pro-apoptotic and anti-apoptotic genes. 3. **Telomere Length Regulation:** TERT regulates telomere length by controlling the activity of telomerase. 4. **Stem Cell Proliferation:** TERT is involved in regulating stem cell proliferation by controlling the expression of genes involved in stem cell maintenance and differentiation. 5. **Angiogenesis Regulation:** TERT regulates angiogenesis by controlling the expression of genes involved in vascular endothelial growth factor (VEGF) signaling. **Clinical Significance:** 1. **Cancer:** TERT dysregulation has been implicated in various cancers, including prostate, breast, and lung cancer. 2. **Cardiovascular Disease:** TERT dysregulation has been linked to cardiovascular disease, including atherosclerosis and hypertension. 3. **Neurodegenerative Disorders:** TERT dysregulation has been implicated in neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease. 4. **Aging and Senescence:** TERT dysregulation contributes to aging and senescence, leading to age-related diseases. 5. **Regenerative Medicine:** TERT has potential applications in regenerative medicine, including tissue engineering and stem cell therapy. In conclusion, TERT is a critical regulator of telomere maintenance, cellular senescence, and gene expression. Its dysregulation has been implicated in various diseases, including cancer, cardiovascular disease, and neurodegenerative disorders. Understanding the role of TERT in these processes has significant implications for the development of novel therapeutic strategies and regenerative medicine approaches.

Genular Protein ID: 3523617268

Symbol: TERT_HUMAN

Name: Telomerase reverse transcriptase

UniProtKB Accession Codes:

O14746 O14783 Q2XS35 Q8N6C3 Q8NG38 Q8NG46

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 6 ChEMBL 1 ComplexPortal 3 DIP 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EC 1 ELM 1 EMBL 11 EMDB 13 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 61 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 10 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PDB 17 PDBsum 17 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 3 RefSeq 2 Rhea 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9288757

Title: hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization.

PubMed ID: 9288757

DOI: 10.1016/s0092-8674(00)80538-3

PubMed ID: 9252327

Title: Telomerase catalytic subunit homologs from fission yeast and human.

PubMed ID: 9252327

DOI: 10.1126/science.277.5328.955

PubMed ID: 10333526

Title: Genomic organization and promoter characterization of the gene encoding the human telomerase reverse transcriptase (hTERT).

PubMed ID: 10333526

DOI: 10.1016/s0378-1119(99)00108-0

PubMed ID: 12869302

Title: Expression profile of a gamma-deletion variant of the human telomerase reverse transcriptase gene.

PubMed ID: 12869302

DOI: 10.1016/s1476-5586(03)80051-9

PubMed ID: 14654914

Title: Differential alternative splicing expressions of telomerase reverse transcriptase in gastrointestinal cell lines.

PubMed ID: 14654914

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 8676067

Title: Regulated expression of telomerase activity in human T lymphocyte development and activation.

PubMed ID: 8676067

DOI: 10.1084/jem.183.6.2471

PubMed ID: 9389643

Title: Human telomerase contains evolutionarily conserved catalytic and structural subunits.

PubMed ID: 9389643

DOI: 10.1101/gad.11.23.3109

PubMed ID: 9443919

Title: Reconstitution of human telomerase activity in vitro.

PubMed ID: 9443919

DOI: 10.1016/s0960-9822(98)70067-3

PubMed ID: 11029039

Title: Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding.

PubMed ID: 11029039

DOI: 10.1091/mbc.11.10.3329

PubMed ID: 11274138

Title: Stable association of hsp90 and p23, but Not hsp70, with active human telomerase.

PubMed ID: 11274138

DOI: 10.1074/jbc.c100055200

PubMed ID: 12808100

Title: Hydrogen peroxide triggers nuclear export of telomerase reverse transcriptase via Src kinase family-dependent phosphorylation of tyrosine 707.

PubMed ID: 12808100

DOI: 10.1128/mcb.23.13.4598-4610.2003

PubMed ID: 15044100

Title: Human MCRS2, a cell-cycle-dependent protein, associates with LPTS/PinX1 and reduces the telomere length.

PubMed ID: 15044100

DOI: 10.1016/j.bbrc.2004.02.166

PubMed ID: 14963003

Title: Antioxidants inhibit nuclear export of telomerase reverse transcriptase and delay replicative senescence of endothelial cells.

PubMed ID: 14963003

DOI: 10.1161/01.res.0000121104.05977.f3

PubMed ID: 15138842

Title: Immunohistochemical localization of hTERT protein in human tissues.

PubMed ID: 15138842

DOI: 10.1007/s00418-004-0645-5

PubMed ID: 15371412

Title: Nucleolin interacts with telomerase.

PubMed ID: 15371412

DOI: 10.1074/jbc.m407643200

PubMed ID: 15082768

Title: Functional organization of repeat addition processivity and DNA synthesis determinants in the human telomerase multimer.

PubMed ID: 15082768

DOI: 10.1128/mcb.24.9.3720-3733.2004

PubMed ID: 15805468

Title: Ubiquitin ligase MKRN1 modulates telomere length homeostasis through a proteolysis of hTERT.

PubMed ID: 15805468

DOI: 10.1101/gad.1289405

PubMed ID: 15857955

Title: An anchor site-type defect in human telomerase that disrupts telomere length maintenance and cellular immortalization.

PubMed ID: 15857955

DOI: 10.1091/mbc.e05-02-0148

PubMed ID: 17026956

Title: Telomerase with mutated catalytic motifs has dominant negative effects on telomerase activity and inhibits cell growth.

PubMed ID: 17026956

DOI: 10.1016/j.bbrc.2006.09.125

PubMed ID: 17548608

Title: The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation.

PubMed ID: 17548608

DOI: 10.4049/jimmunol.178.12.7710

PubMed ID: 18082603

Title: Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation.

PubMed ID: 18082603

DOI: 10.1016/j.molcel.2007.09.023

PubMed ID: 17296728

Title: Characterization of physical and functional anchor site interactions in human telomerase.

PubMed ID: 17296728

DOI: 10.1128/mcb.02368-06

PubMed ID: 17264120

Title: The active site residue Valine 867 in human telomerase reverse transcriptase influences nucleotide incorporation and fidelity.

PubMed ID: 17264120

DOI: 10.1093/nar/gkm002

PubMed ID: 18829466

Title: Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase.

PubMed ID: 18829466

DOI: 10.1074/jbc.m805138200

PubMed ID: 19188162

Title: Ionizing radiation up-regulates telomerase activity in cancer cell lines by post-translational mechanism via ras/phosphatidylinositol 3-kinase/Akt pathway.

PubMed ID: 19188162

DOI: 10.1158/1078-0432.ccr-08-0792

PubMed ID: 19567472

Title: PML-IV functions as a negative regulator of telomerase by interacting with TERT.

PubMed ID: 19567472

DOI: 10.1242/jcs.048066

PubMed ID: 19571879

Title: Telomerase modulates Wnt signalling by association with target gene chromatin.

PubMed ID: 19571879

DOI: 10.1038/nature08137

PubMed ID: 19777057

Title: Human telomerase reverse transcriptase (hTERT) Q169 is essential for telomerase function in vitro and in vivo.

PubMed ID: 19777057

DOI: 10.1371/journal.pone.0007176

PubMed ID: 19179534

Title: A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.

PubMed ID: 19179534

DOI: 10.1126/science.1165357

PubMed ID: 20351177

Title: Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo.

PubMed ID: 20351177

DOI: 10.1128/mcb.00151-10

PubMed ID: 21846770

Title: The DEAH-box RNA helicase RHAU binds an intramolecular RNA G-quadruplex in TERC and associates with telomerase holoenzyme.

PubMed ID: 21846770

DOI: 10.1093/nar/gkr630

PubMed ID: 22226966

Title: The AAA-ATPase NVL2 is a telomerase component essential for holoenzyme assembly.

PubMed ID: 22226966

DOI: 10.1016/j.bbrc.2011.12.101

PubMed ID: 22366458

Title: Nuclear import of hTERT requires a bipartite nuclear localization signal and Akt-mediated phosphorylation.

PubMed ID: 22366458

DOI: 10.1242/jcs.099267

PubMed ID: 23362280

Title: Dyrk2-associated EDD-DDB1-VprBP E3 ligase inhibits telomerase by TERT degradation.

PubMed ID: 23362280

DOI: 10.1074/jbc.m112.416792

PubMed ID: 23612978

Title: HIV-1 Vpr protein inhibits telomerase activity via the EDD-DDB1-VPRBP E3 ligase complex.

PubMed ID: 23612978

DOI: 10.1074/jbc.m112.416735

PubMed ID: 23348503

Title: TERT promoter mutations in familial and sporadic melanoma.

PubMed ID: 23348503

DOI: 10.1126/science.1230062

PubMed ID: 29490055

Title: ATF7 mediates TNF-alpha-induced telomere shortening.

PubMed ID: 29490055

DOI: 10.1093/nar/gky155

PubMed ID: 16323248

Title: Crystal structure of HLA-A*2402 complexed with a telomerase peptide.

PubMed ID: 16323248

DOI: 10.1002/eji.200535424

PubMed ID: 29695869

Title: Cryo-EM structure of substrate-bound human telomerase holoenzyme.

PubMed ID: 29695869

DOI: 10.1038/s41586-018-0062-x

PubMed ID: 15885610

Title: Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

PubMed ID: 15885610

DOI: 10.1016/j.bcmd.2004.12.008

PubMed ID: 15814878

Title: Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

PubMed ID: 15814878

DOI: 10.1056/nejmoa042980

PubMed ID: 16247010

Title: Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

PubMed ID: 16247010

DOI: 10.1073/pnas.0508124102

PubMed ID: 16890917

Title: Coronary artery disease and a functional polymorphism of hTERT.

PubMed ID: 16890917

DOI: 10.1016/j.bbrc.2006.07.103

PubMed ID: 16332973

Title: Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

PubMed ID: 16332973

DOI: 10.1182/blood-2005-07-2622

PubMed ID: 16627250

Title: Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.

PubMed ID: 16627250

PubMed ID: 16990594

Title: Functional characterization of natural telomerase mutations found in patients with hematologic disorders.

PubMed ID: 16990594

DOI: 10.1182/blood-2006-07-035089

PubMed ID: 17785587

Title: Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

PubMed ID: 17785587

DOI: 10.1182/blood-2006-12-062851

PubMed ID: 17392301

Title: Telomerase mutations in families with idiopathic pulmonary fibrosis.

PubMed ID: 17392301

DOI: 10.1056/nejmoa066157

PubMed ID: 17460043

Title: Adult-onset pulmonary fibrosis caused by mutations in telomerase.

PubMed ID: 17460043

DOI: 10.1073/pnas.0701009104

PubMed ID: 18042801

Title: Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

PubMed ID: 18042801

DOI: 10.1182/blood-2007-10-120907

PubMed ID: 19760749

Title: Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

PubMed ID: 19760749

DOI: 10.1002/humu.21115

PubMed ID: 19147845

Title: Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.

PubMed ID: 19147845

DOI: 10.1073/pnas.0807057106

PubMed ID: 21436073

Title: Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

PubMed ID: 21436073

DOI: 10.1182/blood-2010-11-322149

PubMed ID: 21602826

Title: Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PubMed ID: 21602826

DOI: 10.1038/nature10084

PubMed ID: 21483807

Title: Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

PubMed ID: 21483807

DOI: 10.1371/journal.pgen.1001352

PubMed ID: 22512499

Title: Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

PubMed ID: 22512499

DOI: 10.1056/nejmc1200999

PubMed ID: 31355908

Title: FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.

PubMed ID: 31355908

DOI: 10.1111/cge.13614

Sequence Information:

  • Length: 1132
  • Mass: 126997
  • Checksum: 94E35469C4CA33A0
  • Sequence:
    • MPRAPRCRAV RSLLRSHYRE VLPLATFVRR LGPQGWRLVQ RGDPAAFRAL VAQCLVCVPW 
DARPPPAAPS FRQVSCLKEL VARVLQRLCE RGAKNVLAFG FALLDGARGG PPEAFTTSVR 
SYLPNTVTDA LRGSGAWGLL LRRVGDDVLV HLLARCALFV LVAPSCAYQV CGPPLYQLGA 
ATQARPPPHA SGPRRRLGCE RAWNHSVREA GVPLGLPAPG ARRRGGSASR SLPLPKRPRR 
GAAPEPERTP VGQGSWAHPG RTRGPSDRGF CVVSPARPAE EATSLEGALS GTRHSHPSVG 
RQHHAGPPST SRPPRPWDTP CPPVYAETKH FLYSSGDKEQ LRPSFLLSSL RPSLTGARRL 
VETIFLGSRP WMPGTPRRLP RLPQRYWQMR PLFLELLGNH AQCPYGVLLK THCPLRAAVT 
PAAGVCAREK PQGSVAAPEE EDTDPRRLVQ LLRQHSSPWQ VYGFVRACLR RLVPPGLWGS 
RHNERRFLRN TKKFISLGKH AKLSLQELTW KMSVRDCAWL RRSPGVGCVP AAEHRLREEI 
LAKFLHWLMS VYVVELLRSF FYVTETTFQK NRLFFYRKSV WSKLQSIGIR QHLKRVQLRE 
LSEAEVRQHR EARPALLTSR LRFIPKPDGL RPIVNMDYVV GARTFRREKR AERLTSRVKA 
LFSVLNYERA RRPGLLGASV LGLDDIHRAW RTFVLRVRAQ DPPPELYFVK VDVTGAYDTI 
PQDRLTEVIA SIIKPQNTYC VRRYAVVQKA AHGHVRKAFK SHVSTLTDLQ PYMRQFVAHL 
QETSPLRDAV VIEQSSSLNE ASSGLFDVFL RFMCHHAVRI RGKSYVQCQG IPQGSILSTL 
LCSLCYGDME NKLFAGIRRD GLLLRLVDDF LLVTPHLTHA KTFLRTLVRG VPEYGCVVNL 
RKTVVNFPVE DEALGGTAFV QMPAHGLFPW CGLLLDTRTL EVQSDYSSYA RTSIRASLTF 
NRGFKAGRNM RRKLFGVLRL KCHSLFLDLQ VNSLQTVCTN IYKILLLQAY RFHACVLQLP 
FHQQVWKNPT FFLRVISDTA SLCYSILKAK NAGMSLGAKG AAGPLPSEAV QWLCHQAFLL 
KLTRHRVTYV PLLGSLRTAQ TQLSRKLPGT TLTALEAAAN PALPSDFKTI LD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.