REPAIRtoire - a database of DNA repair pathways

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WRN

Werner syndrome, RecQ helicase-like

On chromosome: 8p12-p11.2
Known also as: RECQ3; RECQL2; RECQL3; DKFZp686C2056;


NCBI Gene ID: 7486
NCBI Ensembl Id: ENSG00000165392
MIM Id: (from NCBI OMIM database) 604611
Species: Homo sapiens

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]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
Diseases related to this gene:
References:

Authors Title Journal
Gray MD, Shen JC, Kamath-Loeb AS, Blank A, Sopher BL, Martin GM, Oshima J, Loeb LA The Werner syndrome protein is a DNA helicase. Nat Genet Sept. 1, 1997
Brosh RM Jr, Orren DK, Nehlin JO, Ravn PH, Kenny MK, Machwe A, Bohr VA Functional and physical interaction between WRN helicase and human replication protein A. J Biol Chem June 25, 1999
Cooper MP, Machwe A, Orren DK, Brosh RM, Ramsden D, Bohr VA Ku complex interacts with and stimulates the Werner protein. Genes Dev April 15, 2000
Saydam N, Kanagaraj R, Dietschy T, Garcia PL, Pena-Diaz J, Shevelev I, Stagljar I, Janscak P Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors. Nucleic Acids Res Jan. 1, 2007

Last modification of this entry: Oct. 6, 2010.

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