RAD51C
DNA repair protein RAD51 homolog 3
Also known as: FANCO, RA51C_HUMAN, RAD51L2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43502
- Gene
- RAD51C
- Ensembl
- ENSG00000108384
- Chromosome
- 17
- Canonical length
- 376 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles,Cell Junctions,Mitochondria,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
376 residues, UniProt reviewed canonical sequence.
>O43502|RAD51C
1 MRGKTFRFEM QRDLVSFPLS PAVRVKLVSA GFQTAEELLE VKPSELSKEV GISKAEALET
61 LQIIRRECLT NKPRYAGTSE SHKKCTALEL LEQEHTQGFI ITFCSALDDI LGGGVPLMKT
121 TEICGAPGVG KTQLCMQLAV DVQIPECFGG VAGEAVFIDT EGSFMVDRVV DLATACIQHL
181 QLIAEKHKGE EHRKALEDFT LDNILSHIYY FRCRDYTELL AQVYLLPDFL SEHSKVRLVI
241 VDGIAFPFRH DLDDLSLRTR LLNGLAQQMI SLANNHRLAV ILTNQMTTKI DRNQALLVPA
301 LGESWGHAAT IRLIFHWDRK QRLATLYKSP SQKECTVLFQ IKPQGFRDTV VTSACSLQTE
361 GSLSTRKRSR DPEEELLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAD51C can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 19 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 19 nTPM
- adrenal gland: 19 nTPM
- cerebral cortex: 19 nTPM
- heart muscle: 18 nTPM
- epididymis: 18 nTPM
- amygdala: 17 nTPM
Single-cell type
- oocytes: 216 nCPM
- early primary spermatocytes: 165 nCPM
- late primary spermatocytes: 150 nCPM
- extravillous trophoblasts: 129 nCPM
- early spermatids: 95 nCPM
- migrating cytotrophoblasts: 91 nCPM
Immune cell
- T-reg: 22 nTPM
- basophil: 17 nTPM
- naive CD4 T-cell: 14 nTPM
- memory B-cell: 14 nTPM
- naive CD8 T-cell: 13 nTPM
- memory CD8 T-cell: 13 nTPM
Brain region
- cerebellum: 33 nTPM
- white matter: 29 nTPM
- cerebral cortex: 27 nTPM
- hippocampal formation: 27 nTPM
- pons: 26 nTPM
- amygdala: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAD51C.
Disease | AllUniProt
Conditions RAD51C is implicated in, by any mechanism.
- Fanconi anemia complementation group O (FANCO) MIM:613390
- Breast-ovarian cancer, familial, 3 (BROVCA3) MIM:613399
Disease | GeneticClinVar
350 pathogenic / likely-pathogenic of 2,341 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Fanconi anemia complementation group O
- Breast-ovarian cancer, familial, susceptibility to, 3
- Hereditary cancer-predisposing syndrome
- Hereditary breast ovarian cancer syndrome
- RAD51C-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.49
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- -0.87
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA recombination
- DNA repair
- double-strand break repair via homologous recombination
- male meiosis I
- positive regulation of G2/M transition of mitotic cell cycle
- reciprocal meiotic recombination
- sister chromatid cohesion
- spermatogenesis
- telomere maintenance via recombination
- female meiosis sister chromatid cohesion
- meiotic DNA recombinase assembly
Molecular functions
- ATP binding
- ATP-dependent DNA damage sensor activity
- crossover junction DNA endonuclease activity
- DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAD51C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RAD51C as an antibody target. Whether an autoantibody or antibody against RAD51C could matter depends on whether native RAD51C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAD51C is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RAD51C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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