Human Gene RAD51C (uc002iwu.3) Description and Page Index
Description: Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA. RefSeq Summary (NM_058216): 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]. Transcript (Including UTRs) Position: hg19 chr17:56,769,963-56,811,692 Size: 41,730 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr17:56,770,005-56,811,583 Size: 41,579 Coding Exon Count: 9
ID:RA51C_HUMAN DESCRIPTION: RecName: Full=DNA repair protein RAD51 homolog 3; Short=R51H3; AltName: Full=RAD51 homolog C; AltName: Full=RAD51-like protein 2; FUNCTION: Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. The RAD51B-RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Participates in branch migration and Holliday junction resolution and thus is important for processing HR intermediates late in the DNA repair process. Also has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis. SUBUNIT: Interacts with RAD51B and XRCC3. Part of a BCDX2 complex consisting of RAD51B, RAD51C, RAD51D and XRCC2. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3. Part of a complex with RAD51B and RAD51. Interacts with SWSAP1; involved in homologous recombination repair. INTERACTION: Q6NVH7:SWSAP1; NbExp=2; IntAct=EBI-2267048, EBI-5281637; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion. Note=DNA damage induces an increase in nuclear levels. Accumulates in DNA damage induced nuclear foci or RAD51C foci which is formed during the S or G2 phase of cell cycle. Accumulation at DNA lesions requires the presence of NBN/NBS1, ATM and RPA. TISSUE SPECIFICITY: Expressed in a variety of tissues, with highest expression in testis, heart muscle, spleen and prostate. INDUCTION: Stress-induced increase in the mitochondrial levels is seen. DISEASE: Defects in RAD51C are the cause of Fanconi anemia complementation group O (FANCO) [MIM:613390]. It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. DISEASE: Defects in RAD51C are the cause of familial breast- ovarian cancer type 3 (BROVCA3) [MIM:613399]. It is a condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. SIMILARITY: Belongs to the RecA family. RAD51 subfamily. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rad51c/"; WEB RESOURCE: Name=RAD51 homolog C (S.cerevisiae) (RAD51C); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/RAD51C"; WEB RESOURCE: Name=RAD51 homolog C (S.cerevisiae) (RAD51C); Note=ZJU-CGGM and BGI-Shenzhen; URL="http://www.genomed.org/lovd/cm/home.php?select_db=RAD51C";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RAD51C CDC HuGE Published Literature: RAD51C
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43502
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.