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 chr5:1,255,402-1,282,739 Size: 27,338 Total Exon Count: 2 Strand: -
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]
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
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. 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. 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. MA620511 - JP 2018138019-A/192437: 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
GeneReviews article(s) related to gene TERT: dkc (Dyskeratosis Congenita and Related Telomere Biology Disorders) pf (Pulmonary Fibrosis Predisposition Overview)
Gene Model Information
category:
nearCoding
nonsense-mediated-decay:
no
RNA accession:
JF896285.1
exon count:
2
CDS single in 3' UTR:
no
RNA size:
230
ORF size:
0
CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
547.00
frame shift in genome:
no
% Coverage:
100.00
has start codon:
no
stop codon in genome:
no
# of Alignments:
1
has end codon:
no
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0
# strange splices:
0
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for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.