Description: Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 2, mRNA. RefSeq Summary (NM_032957): This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]. Transcript (Including UTRs) Position: hg19 chr20:62,289,163-62,328,544 Size: 39,382 Total Exon Count: 35 Strand: + Coding Region Position: hg19 chr20:62,290,756-62,327,138 Size: 36,383 Coding Exon Count: 34
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RTEL1 CDC HuGE Published Literature: RTEL1 Positive Disease Associations: Colitis, Ulcerative
, Glioma Related Studies:
Colitis, Ulcerative Carl A Anderson et al. Nature genetics 2011, Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47., Nature genetics.
[PubMed 21297633]
Glioma Margaret Wrensch et al. Nature genetics 2009, Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility., Nature genetics.
[PubMed 19578366]
Glioma Margaret Wrensch et al. Nature genetics 2009, Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility., Nature genetics.
[PubMed 19578366]
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 Q9NZ71-7
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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.
GeneReviews article(s) related to gene RTEL1: 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_032957.4
exon count:
35
CDS single in 3' UTR:
no
RNA size:
5042
ORF size:
3732
CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
6065.50
frame shift in genome:
no
% Coverage:
99.70
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
yes
# 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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US Server
