RAD51
RAD51 Recombinase: Key Player in Homologous Recombination and DNA Repair
Gene Information Card
| Symbol | RAD51 |
|---|---|
| Full Name | RAD51 recombinase |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 5888 ncbi.nlm.nih.gov/gene/5888 |
| Ensembl ID | ENSG00000051180 |
| UniProt ID | Q06609 |
| OMIM ID | 179617 |
| HGNC ID | 9817 |
| Aliases | BRCC5, HsRad51, HsT16930, RAD51A, RECA |
Description
RAD51 encodes a member of the RecA family of recombinases, essential for homologous recombination repair of DNA double-strand breaks. The protein forms a helical filament on single-stranded DNA, facilitating strand exchange between homologous DNA molecules. RAD51 interacts with BRCA1, BRCA2, and other DNA repair factors, playing a critical role in maintaining genomic stability. Mutations and altered expression of RAD51 are associated with various cancers and Fanconi anemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group R | Defective homologous recombination due to RAD51 loss-of-function mutations | ClinVar, OMIM |
| Breast cancer | RAD51 overexpression or polymorphisms may increase susceptibility; interaction with BRCA1/BRCA2 pathways | NCBI Gene, COSMIC |
| Ovarian cancer | RAD51 upregulation associated with resistance to platinum-based chemotherapy | COSMIC, PubMed |
| Pancreatic cancer | RAD51 alterations linked to genomic instability and poor prognosis | COSMIC |
| Acute myeloid leukemia | RAD51 mutations reported in some cases | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 15.6 | Medium |
| Lymph node | 12.1 | Medium |
| Spleen | 10.8 | Medium |
| Breast | 6.5 | Low |
| Ovary | 5.9 | Low |
| Pancreas | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| MCF7 | 12.3 | Breast cancer cell line |
| A549 | 10.1 | Lung cancer cell line |
| K562 | 14.7 | Leukemia cell line |
| HepG2 | 8.9 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.391A>G (p.Thr131Ala) | Missense | Rare | Reduced recombinase activity; associated with Fanconi anemia |
| c.482G>A (p.Arg161Gln) | Missense | Rare | Impaired DNA repair; reported in breast cancer |
| c.739C>T (p.Arg247Cys) | Missense | Rare | Loss of function; Fanconi anemia |
| c.1025G>A (p.Arg342Gln) | Missense | Rare | Reduced interaction with BRCA2; cancer susceptibility |
| c.1358G>A (p.Arg453Gln) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in RAD51 impair homologous recombination, leading to genomic instability and Fanconi anemia. Examples include p.Thr131Ala and p.Arg247Cys.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression of wild-type RAD51 is observed in cancers and may promote resistance to DNA-damaging therapies.
Dominant Negative (DN)
Dominant-negative mutations (e.g., p.Arg161Gln) can disrupt RAD51 filament formation and inhibit homologous recombination, contributing to cancer susceptibility.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • ATP binding |
| • DNA recombination | • DNA repair |
| • homologous recombination | • double-strand break repair via homologous recombination |
| • protein homooligomerization | • single-stranded DNA binding |
Pathways
• Homologous recombination (KEGG: hsa03440)
• Fanconi anemia pathway (KEGG: hsa03460)
• BRCA1-associated genome surveillance complex (BASC)
• DNA double-strand break repair
Protein Summary
RAD51 is a 339-amino acid protein (UniProt Q06609) that belongs to the RecA family. It catalyzes ATP-dependent homologous pairing and strand exchange during homologous recombination. The protein contains a conserved RecA-like domain and an N-terminal domain for oligomerization. RAD51 interacts with BRCA2, RAD51AP1, and other mediators to form nucleoprotein filaments on single-stranded DNA. Post-translational modifications include phosphorylation and ubiquitination, regulating its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD51B Knockout HEK293 Cell Line | EDJ-KQ5628 | Human | 5890 | Details Get a Quote |
| RAD51AP1 Knockout HEK293 Cell Line | EDJ-KQ7115 | Human | 10635 | Details Get a Quote |
| RAD51AP2 Knockout HEK293 Cell Line | EDJ-KQ14986 | Human | 729475 | Details Get a Quote |
| RAD51B Knockout HCT 116 Cell Line | EDJ-KQ28944 | Human | 5890 | Details Get a Quote |
| RAD51B Knockout HeLa Cell Line | EDJ-KQ28945 | Human | 5890 | Details Get a Quote |
| RAD51AP1 Knockout A-549 Cell Line | EDJ-KQ31986 | Human | 10635 | Details Get a Quote |
| RAD51AP1 Knockout HCT 116 Cell Line | EDJ-KQ31987 | Human | 10635 | Details Get a Quote |
| RAD51AP1 Knockout HeLa Cell Line | EDJ-KQ31988 | Human | 10635 | Details Get a Quote |
| RAD51B Knockout A-549 Cell Line | EDJ-KQ27680 | Human | 5890 | Details Get a Quote |
| RAD51AP2 Knockout HeLa Cell Line | EDJ-KQ60754 | Human | 729475 | Details Get a Quote |
| RAD51AP2 Knockout A-549 Cell Line | EDJ-KQ69223 | Human | 729475 | Details Get a Quote |
| RAD51AP2 Knockout HCT 116 Cell Line | EDJ-KQ77580 | Human | 729475 | Details Get a Quote |
| RAD51B (c.84+28T>G )Point Mutation in HAP1 Cell Line | EDC03586 | Human | 5890 | Details Get a Quote |
| RAD51B (c.84+120G>A )Point Mutation in HAP1 Cell Line | EDC03587 | Human | 5890 | Details Get a Quote |
| RAD51D（NC_000017.11: g.35106801A>G） Point Mutation in A-549 Cell Line | EDC03244 | Human | 5892 | Details Get a Quote |
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