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This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RAD51C (RAD51 Paralog C) is a Protein Coding gene. Diseases associated with RAD51C include Breast-Ovarian Cancer, Familial 3 and Fanconi Anemia, Complementation Group O. Among its related pathways are Homologous DNA Pairing and Strand Exchange and Meiosis. Gene Ontology (GO) annotations related to this gene include nucleotide binding and four-way junction DNA binding. 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,TAS | 9469824 |
GO:0005515 | protein binding | IPI | 9469824 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IDA | 12966089 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005657 | replication fork | IBA,IDA | 20207730 |
GO:0005737 | cytoplasm | IEA,IDA | 16215984 |
GO:0005739 | mitochondrion | IEA,IDA | 20413593 |
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 | Homologous DNA Pairing and Strand Exchange | ||
4 | Meiosis |
.73
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5 | Fanconi anemia pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000722 | telomere maintenance via recombination | IEA | -- |
GO:0000724 | double-strand break repair via homologous recombination | IMP | 23149936 |
GO:0006281 | DNA repair | IEA,IDA | 19451272 |
GO:0006310 | DNA recombination | TAS,IDA | 19451272 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAD51C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAD51C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAD51C 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rad51c 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rad51c 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAD51C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAD51C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAD51C 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | RAD51C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rad51c 30 |
|
||
Str.18691 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | rad51c 30 31 |
|
OneToOne | |
Dr.14386 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2850 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | spn-D 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DMC1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RAD51C 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0578000 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639707 | Uncertain Significance: Fanconi anemia, complementation group O | 58,734,211(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
639922 | Uncertain Significance: Fanconi anemia, complementation group O | 58,734,204(+) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
640651 | Uncertain Significance: Fanconi anemia, complementation group O | 58,695,096(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
643248 | Uncertain Significance: Fanconi anemia, complementation group O | 58,734,164(+) | A/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
644736 | Uncertain Significance: Fanconi anemia, complementation group O | 58,695,116(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1489n106 | CNV | deletion | 24896259 |
dgv1490n106 | CNV | deletion | 24896259 |
esv1778308 | CNV | deletion | 17803354 |
esv2664231 | CNV | deletion | 23128226 |
esv2674642 | CNV | deletion | 23128226 |
esv2716079 | CNV | deletion | 23290073 |
esv2758698 | CNV | gain | 17122850 |
esv3640893 | CNV | loss | 21293372 |
esv991006 | CNV | deletion | 20482838 |
nsv1066945 | CNV | loss | 25217958 |
nsv1134659 | CNV | deletion | 24896259 |
nsv1150939 | CNV | deletion | 26484159 |
nsv428347 | CNV | gain | 18775914 |
nsv833498 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
breast-ovarian cancer, familial 3 |
|
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fanconi anemia, complementation group o |
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|
hereditary site-specific ovarian cancer syndrome |
|
|
hereditary breast ovarian cancer syndrome |
|
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breast-ovarian cancer, familial 1 |
|