Skip to content
GenoLensGenoLens

RAD51

Chr 15q15.1

RAD51 recombinase

Aliases:
HsRad51, HsT16930, BRCC5, FANCR
MANE:
ENST00000267868.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Confirmed Fanconi anaemia or Bloom syndrome

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Severe microcephaly

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Haematological malignancies cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Haematological malignancies for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • Fanconi anemia complementation group R

    0.74
  • Fanconi anemia

    0.63
  • mirror movements 2

    0.62
  • cancer

    0.56
  • breast cancer

    0.47
  • hereditary breast carcinoma

    0.43
  • Hereditary breast cancer

    0.43
  • hereditary disease

    0.42
  • familial congenital mirror movements

    0.38
  • alcohol drinking

    0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA repair protein RAD51 homolog 1

Homologous DNA recombinase that catalyzes strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:12205100, PubMed:12442171, PubMed:15937124, PubMed:17515904, PubMed:17515903, PubMed:18417535, PubMed:19303847, PubMed:20231364, PubMed:20348101, PubMed:22325354, PubMed:23509288, PubMed:23754376, PubMed:24141787, PubMed:26681308, PubMed:27941124, PubMed:28575658, PubMed:32640219, PubMed:37499663, PubMed:38509361, PubMed:7988572). Binds to single-stranded DNA (ssDNA) in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:12205100, PubMed:15937124, PubMed:17515904, PubMed:17515903, PubMed:18417535, PubMed:19303847, PubMed:15226506, PubMed:20231364, PubMed:20348101, PubMed:23509288, PubMed:23754376, PubMed:26681308, PubMed:28575658, PubMed:37499663, PubMed:39636933, PubMed:41166468, PubMed:38509361, PubMed:7988572). Catalyzes 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 (PubMed:12205100, PubMed:18417535, PubMed:19303847, PubMed:20231364, PubMed:20348101, PubMed:23509288, PubMed:23754376, PubMed:26681308, PubMed:28575658, PubMed:38459011). RAD51 targeting to ssDNA promotes removal of replication protein-A (RPA) from ssDNA and stabilization of RAD51-ssDNA filaments by blocking ATP hydrolysis (PubMed:20729859). Nucleosomal DNA is peeled from the histone surface by the RAD51 filament (PubMed:38509361). Recruited to resolve stalled replication forks during replication stress (PubMed:27797818, PubMed:31844045). Also required for homologous recombination during meiosis by acting as an non-catalytic accessory factor for DMC1 recombinase, enabling proper chromosome pairing and crossing over (By similarity). Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3 (PubMed:20413593). Also involved in interstrand cross-link repair (PubMed:26253028)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.