XRCC4

From Wikipedia, the free encyclopedia

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

PDB rendering based on 1fu1.

Available structures: 1fu1, 1ik9

Identifiers

Symbol(s)

XRCC4;

External IDs

OMIM: 194363 MGI: 1333799 HomoloGene: 2555

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• nucleus
Biological Process:	• double-strand break repair via nonhomologous end joining • DNA recombination

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003401 (mRNA)
NP_003392 (protein)

NM_028012 (mRNA)
NP_082288 (protein)

Location

Chr 5: 82.41 - 82.69 Mb

Chr 13: 90.32 - 90.56 Mb

Pubmed search

[1]

[2]

X-ray repair complementing defective repair in Chinese hamster cells 4, also known as XRCC4, is a human gene.^[1]

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. This gene contains 8 exons, and alternative transcription initiation and alternative splicing generates several transcript variants.^[1]

[edit] References

^ ^a ^b Entrez Gene: XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4.

[edit] Further reading

Lieber MR (1999). "The biochemistry and biological significance of nonhomologous DNA end joining: an essential repair process in multicellular eukaryotes.". Genes Cells 4 (2): 77–85. PMID 10320474.
Giaccia AJ, Denko N, MacLaren R, et al. (1990). "Human chromosome 5 complements the DNA double-strand break-repair deficiency and gamma-ray sensitivity of the XR-1 hamster variant.". Am. J. Hum. Genet. 47 (3): 459–69. PMID 1697445.
Otevrel T, Stamato TD (1995). "Regional localization of the XRCC4 human radiation repair gene.". Genomics 27 (1): 211–4. doi:10.1006/geno.1995.1029. PMID 7665175.
Li Z, Otevrel T, Gao Y, et al. (1996). "The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination.". Cell 83 (7): 1079–89. PMID 8548796.
Grawunder U, Wilm M, Wu X, et al. (1997). "Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells.". Nature 388 (6641): 492–5. doi:10.1038/41358. PMID 9242410.
Critchlow SE, Bowater RP, Jackson SP (1997). "Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV.". Curr. Biol. 7 (8): 588–98. PMID 9259561.
Mizuta R, Cheng HL, Gao Y, Alt FW (1998). "Molecular genetic characterization of XRCC4 function.". Int. Immunol. 9 (10): 1607–13. PMID 9352367.
Leber R, Wise TW, Mizuta R, Meek K (1998). "The XRCC4 gene product is a target for and interacts with the DNA-dependent protein kinase.". J. Biol. Chem. 273 (3): 1794–801. PMID 9430729.
Gao Y, Sun Y, Frank KM, et al. (1999). "A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis.". Cell 95 (7): 891–902. PMID 9875844.
Modesti M, Hesse JE, Gellert M (1999). "DNA binding of Xrcc4 protein is associated with V(D)J recombination but not with stimulation of DNA ligase IV activity.". EMBO J. 18 (7): 2008–18. doi:10.1093/emboj/18.7.2008. PMID 10202163.
Nick McElhinny SA, Snowden CM, McCarville J, Ramsden DA (2000). "Ku recruits the XRCC4-ligase IV complex to DNA ends.". Mol. Cell. Biol. 20 (9): 2996–3003. PMID 10757784.
Gao Y, Ferguson DO, Xie W, et al. (2000). "Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development.". Nature 404 (6780): 897–900. doi:10.1038/35009138. PMID 10786799.
Chen L, Trujillo K, Sung P, Tomkinson AE (2000). "Interactions of the DNA ligase IV-XRCC4 complex with DNA ends and the DNA-dependent protein kinase.". J. Biol. Chem. 275 (34): 26196–205. doi:10.1074/jbc.M000491200. PMID 10854421.
Lee KJ, Huang J, Takeda Y, Dynan WS (2000). "DNA ligase IV and XRCC4 form a stable mixed tetramer that functions synergistically with other repair factors in a cell-free end-joining system.". J. Biol. Chem. 275 (44): 34787–96. doi:10.1074/jbc.M004011200. PMID 10945980.
Ford BN, Ruttan CC, Kyle VL, et al. (2000). "Identification of single nucleotide polymorphisms in human DNA repair genes.". Carcinogenesis 21 (11): 1977–81. PMID 11062157.
Sibanda BL, Critchlow SE, Begun J, et al. (2002). "Crystal structure of an Xrcc4-DNA ligase IV complex.". Nat. Struct. Biol. 8 (12): 1015–9. doi:10.1038/nsb725. PMID 11702069.
Lee KJ, Dong X, Wang J, et al. (2002). "Identification of human autoantibodies to the DNA ligase IV/XRCC4 complex and mapping of an autoimmune epitope to a potential regulatory region.". J. Immunol. 169 (6): 3413–21. PMID 12218164.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Hsu HL, Yannone SM, Chen DJ (2003). "Defining interactions between DNA-PK and ligase IV/XRCC4.". DNA Repair (Amst.) 1 (3): 225–35. PMID 12509254.