REPAIRtoire - a database of DNA repair pathways

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Bujnicki Lab Homepage

XRCC4

X-ray repair complementing defective repair in Chinese hamster cells 4

On chromosome: 5q13-q14

NCBI Gene ID: 7518
NCBI Ensembl Id: ENSG00000152422
MIM Id: (from NCBI OMIM database) 194363
Species: Homo sapiens

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing generates several transcript variants. [provided by RefSeq]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Grawunder U, Wilm M, Wu X, Kulesza P, Wilson TE, Mann M, Lieber MR Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature July 31, 1997
Critchlow SE, Bowater RP, Jackson SP Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. Curr Biol Aug. 1, 1997
Leon DA, Chenet L, Shkolnikov VM, Zakharov S, Shapiro J, Rakhmanova G, Vassin S, McKee M Huge variation in Russian mortality rates 1984-94: artefact, alcohol, or what? Lancet Aug. 9, 1997
Lee JW, Yannone SM, Chen DJ, Povirk LF Requirement for XRCC4 and DNA ligase IV in alignment-based gap filling for nonhomologous DNA end joining in vitro. Cancer Res Feb. 1, 2003
Ahnesorg P, Smith P, Jackson SP XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell Feb. 27, 2006

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

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