Sequence in raw or FASTA format:
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 [
Homo sapiens (human)]
Gene Symbol XRCC4
Entrez Gene ID
Full Name X-ray repair complementing defective repair in Chinese hamster cells 4
General protein information
DNA repair protein XRCC4
DNA repair protein XRCC4
X-ray repair cross-complementing protein 4
X-ray repair, complementing defective, repair in Chinese hamster
Gene Type protein-coding
Homo sapiens (human)
Chromosome:5 Map Location:5q14.2
Summary 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, Sep 2008].
WP438 Non-homologous end joining
Related articles in PubMed Association of functional polymorphisms of the XRCC4 gene with the risk of breast cancer: a meta-analysis. Zhou LP, et al. Asian Pac J Cancer Prev, 2012. PMID 22994773. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629. Polymorphisms of DNA repair genes in Korean hepatocellular carcinoma patients with chronic hepatitis B: possible implications on survival. Jung SW, et al. J Hepatol, 2012 Sep. PMID 22659345. A human XRCC4-XLF complex bridges DNA. Andres SN, et al. Nucleic Acids Res, 2012 Feb. PMID 22287571. DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients. Cifci S, et al. Hematology, 2011 Nov. PMID 22183071. See all (146) citations in PubMed See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into Functions
What's a GeneRIF?
Mutations of rs2075686 (C>T) and rs6869366 (G>T) in the XRCC4 gene were associated with increased risk of breast cancer.
Title: Association of functional polymorphisms of the XRCC4 gene with the risk of breast cancer: a meta-analysis.
Single nucleotide polymorphism of XRCC4 rs1805377 may act as a preventive genetic factor associated with development and survival of hepatocellular carcinoma patients.
Title: Polymorphisms of DNA repair genes in Korean hepatocellular carcinoma patients with chronic hepatitis B: possible implications on survival.
Polymorphisms of XRCC4 A245G and T1394G could influence the chromosomal damage levels in 1,3-butadiene exposed workers.
Title: [Association of XRCC4 polymorphisms and chromosomal damage levels in 1,3-butadiene workers].
Data show that when the genotype frequencies of XPD and XRCC1 genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 polymorphisms.
Title: DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients.
XRCC4 intron 3 rs6869366 genotype and intron 7 rs28360317 may be associated with urothelial bladder cancer risk.
Title: Gene variants of XRCC4 and XRCC3 and their association with risk for urothelial bladder cancer.
Evidence for how XRCC4-XLF complexes robustly bridge DNA molecules.
Title: A human XRCC4-XLF complex bridges DNA.
XRCC4 modulates the dynamic interaction of the Ligase IV/XRCC4 complex with the NHEJ machinery at double-stranded DNA breaks
Title: XRCC4 controls nuclear import and distribution of Ligase IV and exchanges faster at damaged DNA in complex with Ligase IV.
Multiple truncations of the XLF and XRCC4 proteins were cocrystallized, but yielded low-resolution diffraction (~20 A)
Title: Crystallization and preliminary X-ray diffraction analysis of the human XRCC4-XLF complex.
haplotypes in NBN and XRCC4, and CDKN2A were associated with structural and numerical change subtypes, respectively, in childhood acute lymphoblastic leukemia
Title: Haplotypes of DNA repair and cell cycle control genes, X-ray exposure, and risk of childhood acute lymphoblastic leukemia.
Data show that XLF and XRCC4 dimers interact through their head domains and form an alternating left-handed helical structure with polypeptide coiled coils and pseudo-dyads of individual XLF and XRCC4 dimers at right angles to the helical axis.
Title: Non-homologous end-joining partners in a helical dance: structural studies of XLF-XRCC4 interactions.
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