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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]
XRCC3 (X-Ray Repair Cross Complementing 3) is a Protein Coding gene. Diseases associated with XRCC3 include Melanoma, Cutaneous Malignant 6 and Breast Cancer. Among its related pathways are Resolution of D-loop Structures through Holliday Junction Intermediates and Fluoropyrimidine Activity. Gene Ontology (GO) annotations related to this gene include DNA-dependent ATPase activity and crossover junction endodeoxyribonuclease activity. An important paralog of this gene is RAD51B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000400 | contributes_to four-way junction DNA binding | IBA,IDA | 20207730 |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 9469824 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000784 | nuclear chromosome, telomeric region | IC | 15507207 |
GO:0005634 | nucleus | IEA,IDA | 16215984 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005657 | replication fork | IBA,IDA | 20207730 |
GO:0005737 | cytoplasm | IEA,IDA | 16215984 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Resolution of D-loop Structures through Holliday Junction Intermediates | ||
2 | DNA Double-Strand Break Repair |
.53
|
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3 | Fluoropyrimidine Activity | ||
4 | Homologous DNA Pairing and Strand Exchange | ||
5 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000722 | telomere maintenance via recombination | IBA,IMP | 15507207 |
GO:0000724 | double-strand break repair via homologous recombination | IMP | 23149936 |
GO:0006281 | DNA repair | IEA,IGI | 10422536 |
GO:0006310 | DNA recombination | TAS | 9660962 |
GO:0006974 | cellular response to DNA damage stimulus | TAS | 7603995 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Fluorouracil | Approved | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor | 2338 | ||
Irinotecan | Approved, Investigational | Pharma | Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 1414 | ||
leucovorin | Approved | Pharma | 3692,1548 | |||
Platinum compounds | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | XRCC3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | XRCC3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | XRCC3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC102551085 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Xrcc3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | XRCC3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | XRCC3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | XRCC3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | XRCC3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | xrcc3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | xrcc3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | spn-B 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP013180 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD57 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | XRCC3 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0562100 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01771 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rhp57 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
695535 | Benign: not provided | 103,699,410(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
695578 | Benign: not provided | 103,703,179(-) | G/A | SYNONYMOUS_VARIANT | |
8945 | Risk Factor: Breast cancer, susceptibility to | 103,699,590(-) | T/C | INTRON_VARIANT | |
rs861539 | Risk Factor: Cutaneous malignant melanoma 6. Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972] | 103,699,416(-) | G/Ap.Thr241Met | MISSENSE_VARIANT,INTRON_VARIANT | |
rs28903080 | - | p.Gly271Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2749175 | CNV | deletion | 23290073 |
esv2760013 | CNV | loss | 17122850 |
esv3635603 | CNV | gain | 21293372 |
nsv1054574 | CNV | loss | 25217958 |
nsv470673 | CNV | loss | 18288195 |
nsv527425 | CNV | loss | 19592680 |
nsv566023 | CNV | loss | 21841781 |
nsv827071 | CNV | gain | 20364138 |
nsv9171 | CNV | gain | 18304495 |
nsv952260 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
melanoma, cutaneous malignant 6 |
|
|
breast cancer |
|
|
cardiomyopathy, familial hypertrophic, 15 |
|
|
xeroderma pigmentosum, variant type |
|
|
xeroderma pigmentosum, complementation group d |
|
|