RAD51C
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
RAD51 paralog C | MIM:602774 | Ensembl:ENSG00000108384 | HGNC:HGNC:9820 | PA34177 | 17q22 |
GO terms in RAD51C
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IDA | GO:0000400 | four-way junction DNA binding |
MF | TAS | GO:0003677 | DNA binding |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0005524 | ATP binding |
MF | IMP | GO:0008821 | crossover junction endodeoxyribonuclease activity |
CC | IDA | GO:0005634 | nucleus |
CC | TAS | GO:0005654 | nucleoplasm |
CC | IBA | GO:0005657 | replication fork |
CC | IDA | GO:0005657 | replication fork |
CC | IDA | GO:0005737 | cytoplasm |
CC | IDA | GO:0005739 | mitochondrion |
CC | IDA | GO:0005829 | cytosol |
CC | IDA | GO:0030054 | cell junction |
CC | IBA | GO:0033063 | Rad51B-Rad51C-Rad51D-XRCC2 complex |
CC | IDA | GO:0033063 | Rad51B-Rad51C-Rad51D-XRCC2 complex |
CC | IDA | GO:0033065 | Rad51C-XRCC3 complex |
CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
CC | IDA | GO:0048476 | Holliday junction resolvase complex |
BP | IBA | GO:0000707 | meiotic DNA recombinase assembly |
BP | IEA | GO:0000722 | telomere maintenance via recombination |
BP | IMP | GO:0000724 | double-strand break repair via homologous recombination |
BP | IDA | GO:0006281 | DNA repair |
BP | IDA | GO:0006310 | DNA recombination |
BP | ISS | GO:0007062 | sister chromatid cohesion |
BP | IEA | GO:0007066 | female meiosis sister chromatid cohesion |
BP | IBA | GO:0007131 | reciprocal meiotic recombination |
BP | IEA | GO:0007141 | male meiosis I |
BP | IEA | GO:0007283 | spermatogenesis |
BP | TAS | GO:0007596 | blood coagulation |
BP | IMP | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle |
Gene expression in normal tissue: RAD51C
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RAD51C
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-109582 | Hemostasis |
reactome | R-HSA-1474165 | Reproduction |
reactome | R-HSA-1500620 | Meiosis |
reactome | R-HSA-1640170 | Cell Cycle |
reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
reactome | R-HSA-5693537 | Resolution of D-Loop Structures |
reactome | R-HSA-5693538 | Homology Directed Repair |
reactome | R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
reactome | R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates |
reactome | R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange |
reactome | R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
reactome | R-HSA-73894 | DNA Repair |
reactome | R-HSA-912446 | Meiotic recombination |
reactome | R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RAD51C