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WRN (NM_000553) - WRN RecQ like helicase

Werner Syndrome Atp-Dependent Helicase

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of WRN protein.
WRN: Werner syndrome ATP-dependent helicase
Description:

This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: SRR1803614.266899.1, AF091214.1 [ECO:0000332]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000298139.7/ ENSP00000298139.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Strand
+
Chromosome
8
Protein
1432 residues
All mutations
867
PTM sites
58
CDS
30,915,963 - 31,030,618
Transcription
30,890,777 - 31,031,277
45.18% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 7486
UniProt
Ensembl