The nuclear localization may reside in the C-terminus (between 259 and 339 AA).
The protein expressed by the RAD51 gene plays an important role in homologous strand exchange, a critical step in DNA repair through homologous recombination (HR). It binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity, catalyzing the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. RAD51 binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments essential for the homology search and strand exchange. It is part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C, which is thought to play a role in DNA repair by HR. RAD51 also plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3 and is involved in interstrand cross-link repair. This supplementary information is collated from multiple sources and compiled automatically.
Breast cancer
BC
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Mirror movements 2
MRMV2
A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities.
None
The disease is caused by variants affecting the gene represented in this entry.
Fanconi anemia, complementation group R
FANCR
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Ubiquitinated by the SCF(FBH1) E3 ubiquitin ligase complex, regulating RAD51 subcellular location and preventing its association with DNA. Ubiquitinated by RFWD3 in response to DNA damage: ubiquitination leads to degradation by the proteasome, promoting homologous recombination (PubMed:28575658).
Phosphorylation of Thr-309 by CHEK1 may enhance association with chromatin at sites of DNA damage and promote DNA repair by homologous recombination (PubMed:15665856). Phosphorylated at Ser-14 by PLK1, triggering phosphorylation at Thr-13 by CK2, thereby promoting interaction with TOPBP1 and recruitment to DNA damage sites during S-phase (PubMed:22325354, PubMed:26811421). Phosphorylation by ABL1 inhibits function (PubMed:9461559).
Belongs to the RecA family. RAD51 subfamily.
Highly expressed in testis and thymus, followed by small intestine, placenta, colon, pancreas and ovary. Weakly expressed in breast.
RAD51A, RECA, RAD51, DNA repair protein RAD51 homolog 1, HsRAD51, hRAD51, RAD51 homolog A
Proteins
Epigenetics
36966Da
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