Description: Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 3 (XRCC3), transcript variant 2, mRNA. RefSeq Summary (NM_005432): This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr14:104,163,954-104,181,823 Size: 17,870 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr14:104,165,135-104,177,424 Size: 12,290 Coding Exon Count: 7
ID:XRCC3_HUMAN DESCRIPTION: RecName: Full=DNA repair protein XRCC3; AltName: Full=X-ray repair cross-complementing protein 3; FUNCTION: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C. SUBUNIT: Interacts with RAD51C and RAD51. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3. Forms a complex with FANCD2, BRCA2 and phosphorylated FANCG. Interacts with SWSAP1 and ZSWIM7; involved in homologous recombination repair. INTERACTION: Q6NVH7:SWSAP1; NbExp=2; IntAct=EBI-2849976, EBI-5281637; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion. Note=Accumulates in discrete nuclear foci prior to DNA damage, and these foci persist throughout the time course of DNA repair. INDUCTION: Stress-induced increase in the mitochondrial levels is seen. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in XRCC3 are the cause of susceptibility to breast cancer (BC) [MIM:114480]. BC is a common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. DISEASE: Defects in XRCC3 are the cause of susceptibility to cutaneous malignant melanoma type 6 (CMM6) [MIM:613972]. CMM6 is a malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites. SIMILARITY: Belongs to the RecA family. RAD51 subfamily. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XRCC3ID335ch14q32.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/xrcc3/";
Adenocarcinoma|Carcinoma, Squamous Cell|Deglutition Disorders|Head and Neck Neoplasms|Radiodermatitis Joke Werbrouck , et al. International journal of radiation oncology, biology, physics 2009 73(4):1187-95, Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes., International journal of radiation oncology, biology, physics 2009 73(4):1187-95.
[PubMed 19251090]
benzene toxicity Huang, H. L. et al. 2007, Association between genetic polymorphisms of DNA repair genes XRCC1, XRCC3 and susceptibility to chronic benzene poisoning., Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2007 25(4) 193-6.
[PubMed 17535647]
Subjects with XRCC3 18067T variant allele are tolerance sub-group to benzene poisoning. Patients carrying XRCC1 27466 G/G genotype develop chronic benzene poisoning later.
bladder cancer Matullo, G. et al. 2001, DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study., International journal of cancer. Journal international du cancer. 2001 May;92(4):562-7.
[PubMed 11304692]
Our results suggest that bladder-cancer risk can be genetically modulated by XRCC3, which may repair DNA cross-link lesions produced by aromatic amines and other environmental chemicals.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43542
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.