WRN (NM_000553) - Werner syndrome RecQ like helicase

Werner Syndrome Atp-Dependent Helicase

Mutations 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 and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data.

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 :: AF091214.1, SRR1803614.266899.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]

Strand
+
Chromosome
8
Protein
1432 residues
All mutations
268
PTM sites
31
CDS
30,915,963 - 31,030,618
Transcription
30,890,777 - 31,031,277
45.18% of sequence is predicted to be disordered

External references

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