Description: Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. RefSeq Summary (NM_198253): 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 chr5:1,255,402-1,295,162 Size: 39,761 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr5:1,255,403-1,268,672 Size: 13,270 Coding Exon Count: 6
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.
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.
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:
coding
nonsense-mediated-decay:
no
RNA accession:
JF896283.1
exon count:
7
CDS single in 3' UTR:
no
RNA size:
777
ORF size:
612
CDS single in intron:
no
Alignment % ID:
99.87
txCdsPredict score:
1078.00
frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
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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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.