RAD51C - RAD51 paralog C Gene
Also Known as FANCO; R51H3; BROVCA3; RAD51L2
Species: Homo sapiens
About RAD51C
This gene has 38 transcripts (splice variants), 204 orthologues, 6 paralogues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 9.7), brain (RPKM 5.4) and 25 other tissues.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_002876.4 | NP_002867.1 | DNA repair protein RAD51 homolog 3 isoform 2 |
| NM_058216.3 | NP_478123.1 | DNA repair protein RAD51 homolog 3 isoform 1 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| contributes to crossover junction DNA endonuclease activity |
IMP
IMP: Inferred from mutant phenotype
|
14716019 | GOA |
| contributes to four-way junction DNA binding |
IDA
IDA: Inferred from direct assay
|
20207730 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9469824 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in DNA recombination |
IDA
IDA: Inferred from direct assay
|
19451272 | GOA |
| involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
19451272 | GOA |
| involved in double-strand break repair via homologous recombination |
IMP
IMP: Inferred from mutant phenotype
|
23149936 | GOA |
| involved in positive regulation of G2/M transition of mitotic cell cycle |
IMP
IMP: Inferred from mutant phenotype
|
23108668 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| part of Rad51B-Rad51C-Rad51D-XRCC2 complex |
IDA
IDA: Inferred from direct assay
|
11751635 | GOA |
| part of Rad51C-XRCC3 complex |
IDA
IDA: Inferred from direct assay
|
11751635 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
16215984 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
20413593 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
12966089 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
16215984 | GOA |
| located in replication fork |
IDA
IDA: Inferred from direct assay
|
20207730 | GOA |
RAD51C Protein Structure
Rad51: Rad51 (86 - 349)
- 0
- 100
- 200
- 300
- 376 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA repair protein RAD51 homolog 3 |
|
RAD51C Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
RAD51C | O43502 | RAD51D | Homo sapiens | O75771 | 24141787 | |
|
Intra
|
RAD51C | O43502 | RAD51D | Homo sapiens | O75771 | 11751635 | |
|
Intra
|
RAD51C | O43502 | PALB2 | Homo sapiens | Q86YC2 | 24141787 | |
|
Intra
|
RAD51C | O43502 | PALB2 | Homo sapiens | Q86YC2 | 24141787 | |
|
Intra
|
RAD51C | O43502 | PALB2 | Homo sapiens | Q86YC2 | 24141787 | |
|
Intra
|
RAD51C | O43502 | RAD51B | Homo sapiens | O15315 | 11751635 | |
|
Intra
|
RAD51C | O43502 | RAD51B | Homo sapiens | O15315 | 11842113 | |
|
Intra
|
RAD51C | O43502 | RAD51B | Homo sapiens | O15315 | 34591612 | |
|
Intra
|
RAD51C | O43502 | RAD51B | Homo sapiens | O15315 | 28864920 | |
|
Intra
|
RAD51C | O43502 | RAD51B | Homo sapiens | O15315 | 24141787 | |
|
Intra
|
RAD51C | O43502 | XRCC3 | Homo sapiens | O43542 | 28864920 | |
|
Intra
|
RAD51C | O43502 | XRCC3 | Homo sapiens | O43542 | 11751635 | |
|
Intra
|
RAD51C | O43502 | XRCC3 | Homo sapiens | O43542 | 11751635 | |
|
Intra
|
RAD51C | O43502 | XRCC3 | Homo sapiens | O43542 | 24141787 | |
|
Intra
|
RAD51C | O43502 | XRCC3 | Homo sapiens | O43542 | 34591612 | |
|
Intra
|
RAD51C | O43502 | XRCC3 | Homo sapiens | O43542 | 24005329 | |
|
Intra
|
RAD51C | O43502 | RAD51 | Homo sapiens | Q06609 | 24141787 | |
|
Intra
|
RAD51C | O43502 | RAD51 | Homo sapiens | Q06609 | 24141787 | |
|
Intra
|
RAD51C | O43502 | RAD51 | Homo sapiens | Q06609 | 16395335 | |
|
Intra
|
RAD51C | O43502 | RAD51 | Homo sapiens | Q06609 | 24141787 | |
|
Intra
|
RAD51C | O43502 | XRCC2 | Homo sapiens | O43543 | 24141787 | |
|
Intra
|
RAD51C | O43502 | SWSAP1 | Homo sapiens | Q6NVH7 | 21965664 | |
|
Intra
|
RAD51C | O43502 | SWSAP1 | Homo sapiens | Q6NVH7 | 21965664 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Breast-Ovarian Cancer, Familial 3 |
|
|
| Fanconi Anemia, Complementation Group O |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Hereditary Site-Specific Ovarian Cancer Syndrome |
|
|
| Ovarian Cancer 1 |
|
|
| Breast-Ovarian Cancer, Familial 1 |
|
|
| Ovarian Cancer |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Breast Cancer |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Familial Ovarian Cancer |
|
|
| Premature Menopause |
|
|
| Fallopian Tube Carcinoma |
|
|
| Mulibrey Nanism |
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
|
| Diffuse Gastric Cancer |
|
|
| Fanconi Anemia, Complementation Group D1 |
|
|
| Fallopian Tube Disease |
|
|
| Rete Ovarii Adenocarcinoma |
|
|
| Bilateral Breast Cancer |
|
|
| Cervix Melanoma |
|
|
| Peritoneum Cancer |
|
|
| Fanconi-Like Syndrome |
|
|
| Sporadic Breast Cancer |
|
|
| Mirror Movements 1 |
|
|
| Fallopian Tube Endometrioid Adenocarcinoma |
|
|
| Lynch Syndrome |
|
|
| Li-Fraumeni Syndrome |
|
|
| Serous Cystadenocarcinoma |
|
|
| Cowden Syndrome |
|
|
| Aplastic Anemia |
|
|
| Nijmegen Breakage Syndrome |
|
|
| Physical Disorder |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | RAD51C | VGNC | VGNC:33686 |
| Macaca mulatta | RAD51C | VGNC | VGNC:76646 |
| Canis familiaris | RAD51C | VGNC | VGNC:45319 |
| Rattus norvegicus | RAD51C | RGD | RGD:1563765 |
| Felis catus | RAD51C | VGNC | VGNC:69216 |
| Mus musculus | RAD51C | MGD | MGI:2150020 |
| Others | RAD51C | NCBI |