Description: Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 2, mRNA. RefSeq Summary (NM_001193376): 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]. Transcript (Including UTRs) Position: hg19 chr5:1,253,287-1,295,162 Size: 41,876 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr5:1,253,843-1,295,104 Size: 41,262 Coding Exon Count: 15
aplastic anaemia Vulliamy T et al. 2002, Association between aplastic anaemia and mutations in telomerase RNA., Lancet. 2002 Jun;359(9324):2168-70.
[PubMed 12090986]
Erythrocyte Count Yoichiro Kamatani et al. Nature genetics 2010, Genome-wide association study of hematological and biochemical traits in a Japanese population., Nature genetics.
[PubMed 20139978]
glioma Shete ,et al. 2009, Genome-wide association study identifies five susceptibility loci for glioma, Nature genetics 2009 41- 8 : 899-904.
[PubMed 19578367]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14746-3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AX810038 - Sequence 3 from Patent EP1333094. AX810378 - Sequence 343 from Patent EP1333094. BC062321 - Homo sapiens telomerase reverse transcriptase, mRNA (cDNA clone IMAGE:5095305). AF015950 - Homo sapiens telomerase reverse transcriptase (hTRT) mRNA, complete cds. AX810036 - Sequence 1 from Patent EP1333094. DM139039 - Methods of enriching fetal cells. AF018167 - Homo sapiens telomerase catalytic subunit (hEST2) mRNA, complete cds. LF384934 - JP 2014500723-A/192437: Polycomb-Associated Non-Coding RNAs. JD158390 - Sequence 139414 from Patent EP1572962. JD460795 - Sequence 441819 from Patent EP1572962. JD470918 - Sequence 451942 from Patent EP1572962. JD440572 - Sequence 421596 from Patent EP1572962. JD440571 - Sequence 421595 from Patent EP1572962. JD374234 - Sequence 355258 from Patent EP1572962. JD366868 - Sequence 347892 from Patent EP1572962. JD389101 - Sequence 370125 from Patent EP1572962. JD450836 - Sequence 431860 from Patent EP1572962. JD421653 - Sequence 402677 from Patent EP1572962. JD139876 - Sequence 120900 from Patent EP1572962. JD058166 - Sequence 39190 from Patent EP1572962. JD459106 - Sequence 440130 from Patent EP1572962. JD334816 - Sequence 315840 from Patent EP1572962. JD103528 - Sequence 84552 from Patent EP1572962. BC156388 - Synthetic construct Homo sapiens clone IMAGE:100061944, MGC:190131 telomerase reverse transcriptase (TERT) mRNA, encodes complete protein. BC172541 - Synthetic construct Homo sapiens clone IMAGE:100069235, MGC:199246 telomerase reverse transcriptase (TERT) mRNA, encodes complete protein. AB085628 - Homo sapiens mRNA for telomerase reverse transcriptase, complete cds. AB086379 - Homo sapiens hTERT mRNA for beta and gamma deletion isoform of telomerase reverse transcriptase, complete cds. AB086950 - Homo sapiens TERT mRNA for ABG-deleted variant of telomerase reverse transcriptase, complete cds. LF331999 - JP 2014500723-A/139502: Polycomb-Associated Non-Coding RNAs. JF896284 - Homo sapiens telomerase reverse transcriptase isoform Delta2-13 (TERT) mRNA, partial sequence, alternatively spliced. JF896281 - Homo sapiens telomerase reverse transcriptase isoform Delta3p-12 (TERT) mRNA, partial sequence, alternatively spliced. JF896285 - Homo sapiens telomerase reverse transcriptase isoform Delta4-13 (TERT) mRNA, partial cds, alternatively spliced. JF896283 - Homo sapiens telomerase reverse transcriptase isoform Delta2-8 (TERT) mRNA, partial sequence, alternatively spliced. JF896280 - Homo sapiens telomerase reverse transcriptase isoform Delta2 (TERT) mRNA, partial sequence, alternatively spliced. AX810043 - Sequence 8 from Patent EP1333094. JF896282 - Homo sapiens telomerase reverse transcriptase isoform Delta4C (TERT) mRNA, partial cds, alternatively spliced. JF896286 - Homo sapiens telomerase reverse transcriptase isoform INTR1 (TERT) mRNA, partial sequence, alternatively spliced. MA620511 - JP 2018138019-A/192437: Polycomb-Associated Non-Coding RNAs. MA567576 - JP 2018138019-A/139502: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis h_telPathway - Telomeres, Telomerase, Cellular Aging, and Immortality
Reactome (by CSHL, EBI, and GO)
Protein O14746 (Reactome details) participates in the following event(s):
R-HSA-164616 Biogenesis And Assembly Of The Telomerase RNP R-HSA-3322422 Beta-catenin recruits SMARCA4 R-HSA-163096 Recruitment of Telomerase RNP to the Telomeric Chromosome End R-HSA-163120 Disassociation of Telomerase RNP and the Chromosome End R-HSA-163099 Alignment Of The RNA Template On The Telomeric Chromosome End R-HSA-164617 Elongation of Extended Telomeric Chromosome End R-HSA-164620 Translocation Of Telomerase RNP And Alignment Of RNA Template (TERC) To Extended Single Stranded Telomeric Chromosome-End R-HSA-163090 Elongation Of The Telomeric Chromosome End R-HSA-171319 Telomere Extension By Telomerase R-HSA-201722 Formation of the beta-catenin:TCF transactivating complex R-HSA-180786 Extension of Telomeres R-HSA-201681 TCF dependent signaling in response to WNT R-HSA-157579 Telomere Maintenance R-HSA-195721 Signaling by WNT R-HSA-73886 Chromosome Maintenance R-HSA-162582 Signal Transduction R-HSA-1640170 Cell Cycle
GeneReviews article(s) related to gene TERT: dkc (Dyskeratosis Congenita and Related Telomere Biology Disorders) pf (Pulmonary Fibrosis Predisposition Overview)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001193376.1
exon count:
15
CDS single in 3' UTR:
no
RNA size:
3829
ORF size:
3210
CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
6620.00
frame shift in genome:
no
% Coverage:
99.87
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0
# strange splices:
0
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Methods, Credits, and Use Restrictions
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