BRCA1

Gene

BRCA1 DNA repair associated

HGNCHGNC:1100 EnsemblENSG00000012048 NCBI Gene672

Locus: gene with protein productLocation: 17q21.31

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Breast cancer type 1 susceptibility proteinP38398

Protein · therapeutic target

Explore protein biology & therapeutics

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asRNF53 · BRCC1 · PPP1R53 · FANCS

View full nomenclature history (9)

Alias symbolsRNF53, BRCC1, PPP1R53, FANCS

Previous namesbreast cancer 1, early onset, breast cancer 1

Alias namesBRCA1/BRCA2-containing complex, subunit 1, protein phosphatase 1, regulatory subunit 53, Fanconi anemia, complementation group S

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Breast Neoplasms

Ovarian Neoplasms

Neoplasms

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Ring finger proteinsFA complementation groupsProtein phosphatase 1 regulatory subunitsBRCA1 A complexBRCA1 B complexBRCA1 C complex

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.

Open TargetsGene–disease associations from the Open Targets Platform.