RAD51C
entrez
5889
canonical
uniprot
O43502
canonical
ensembl
ENSG00000108384
resolver
ensp
ENSP00000336701
resolver
ensp
ENSP00000391450
resolver
ensp
ENSP00000401741
resolver
ensp
ENSP00000513399
resolver
ensp
ENSP00000513402
resolver
ensp
ENSP00000644914
resolver
enst
ENST00000697694
resolver
genesymbol
RAD51C
resolver
genesymbol_syn
RAD51L2
resolver
hgnc
HGNC:9820
resolver
uniprot
A0A8V8TML8
resolver
uniprot
O43503
resolver
uniprot
Q3B783
resolver
uniprot_entry
A0A8V8TML8_HUMAN
resolver
uniprot_entry
RA51C_HUMAN
resolver
uniprot_sec
O43503
resolver
uniprot_sec
Q3B783
resolver
amino_acid_sequence
MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKPQGFRDTVVTSACSLQTEGSLSTRKRSRDPEEEL
uniprot
proteins
disease_involvement
DISEASE: Fanconi anemia complementation group O (FANCO) [MIM:613390]: 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. {ECO:0000269|PubMed:20400963, ECO:0000269|PubMed:24141787}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399]: 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. {ECO:0000269|PubMed:20400964, ECO:0000269|PubMed:21990120, ECO:0000269|PubMed:24141787}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. Part of the RAD51 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Involved in RAD51 foci formation in response to DNA damage suggesting an involvement in early stages of HR probably in the invasion step. 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. Participates in branch migration and HJ resolution and thus is important for processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex. Part of a PALB2-scaffolded HR complex containing BRCA2 and which is thought to play a role in DNA repair by HR. 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. {ECO:0000269|PubMed:14716019, ECO:0000269|PubMed:16215984, ECO:0000269|PubMed:16395335, ECO:0000269|PubMed:19451272, ECO:0000269|PubMed:19783859, ECO:0000269|PubMed:20413593, ECO:0000269|PubMed:23108668, ECO:0000269|PubMed:23149936}.
uniprot
proteins
mass_dalton
42190
uniprot
proteins
mutagenesis
MUTAGEN 131; /note="K->A: Significant loss of function; abolishes Holliday junction resolution activity."; /evidence="ECO:0000269|PubMed:12966089, ECO:0000269|PubMed:14716019"; MUTAGEN 131; /note="K->R: Partial loss of function."; /evidence="ECO:0000269|PubMed:12966089, ECO:0000269|PubMed:14716019
uniprot
proteins
protein_family
RAD51 subfamily
uniprot
proteins
protein_family
RecA family
uniprot
proteins
pubmed
11744692
uniprot
proteins
pubmed
11751635
uniprot
proteins
pubmed
11751636
uniprot
proteins
pubmed
11842112
uniprot
proteins
pubmed
11842113
uniprot
proteins
pubmed
12427746
uniprot
proteins
pubmed
12966089
uniprot
proteins
pubmed
14704354
uniprot
proteins
pubmed
14716019
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16215984
uniprot
proteins
pubmed
16395335
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19451272
uniprot
proteins
pubmed
19783859
uniprot
proteins
pubmed
20207730
uniprot
proteins
pubmed
20400963
uniprot
proteins
pubmed
20400964
uniprot
proteins
pubmed
20413593
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21965664
uniprot
proteins
pubmed
21990120
uniprot
proteins
pubmed
23108668
uniprot
proteins
pubmed
23149936
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24005041
uniprot
proteins
pubmed
24141787
uniprot
proteins
pubmed
35849344
uniprot
proteins
pubmed
9469824
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12966089, ECO:0000269|PubMed:16215984}. Cytoplasm {ECO:0000269|PubMed:16215984}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16215984}. Mitochondrion {ECO:0000269|PubMed:20413593}. 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.
uniprot
proteins