InnateDB Protein
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IDBP-595201.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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XRCC3
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Protein Name
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X-ray repair complementing defective repair in Chinese hamster cells 3
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Synonyms
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CMM6;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000451362
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InnateDB Gene
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IDBG-22058 (XRCC3)
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Protein Structure
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Function |
Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2- dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C. {ECO:0000269PubMed:14716019, ECO:0000269PubMed:20413593, ECO:0000269PubMed:23108668, ECO:0000269PubMed:23149936}.
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Subcellular Localization |
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.
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Disease Associations |
Breast cancer (BC) [MIM:114480]: 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. {ECO:0000269PubMed:12023982}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972]: 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. {ECO:0000269PubMed:11059748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
17
[view]
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Protein-Protein |
17
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR013632
DNA recombination and repair protein Rad51, C-terminal
IPR016467
DNA recombination and repair protein, RecA-like
IPR020588
DNA recombination and repair protein RecA-like, ATP-binding domain
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF08423
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PRINTS |
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PIRSF |
PIRSF005856
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O43542
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PhosphoSite |
PhosphoSite-O43542
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TrEMBL |
Q53XC8
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UniProt Splice Variant |
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Entrez Gene |
7517
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UniGene |
Hs.733412
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RefSeq |
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HUGO |
HGNC:12830
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OMIM |
600675
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CCDS |
CCDS9984
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HPRD |
07201
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IMGT |
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EMBL |
AF035586
AF037222
AF508041
AK022829
AK023646
AK124498
AL049840
BC001036
BC002949
BC011725
BT007417
BX161398
CH471061
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GenPept |
AAC04805
AAC05368
AAH01036
AAH02949
AAH11725
AAM23015
AAP36085
BAG51121
BAG51212
BAG54042
CAD61884
EAW81837
EAW81838
EAW81839
EAW81840
EAW81841
EAW81842
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