Harmonizome 3.0

breast cancer 1, early onset

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]

From ENCODE Transcription Factor Targets

target genes of the BRCA1 transcription factor in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term brca1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Hub Proteins Protein-Protein Interactions

interacting proteins for hub protein BRCA1 from the curated Hub Proteins Protein-Protein Interactions dataset.

From JASPAR Predicted Transcription Factor Targets

target genes of the BRCA1 transcription factor predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.

From MSigDB Cancer Gene Co-expression Modules

co-expressed genes for BRCA1 from the MSigDB Cancer Gene Co-expression Modules dataset.

From NURSA Protein-Protein Interactions

interacting proteins for BRCA1 from the NURSA Protein-Protein Interactions dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for BRCA1 from the Pathway Commons Protein-Protein Interactions dataset.

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term brca1 in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the BRCA1 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the BRCA1 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From Biocarta Pathways

proteins participating in the brca1 dependent ub ligase activity pathway from the Biocarta Pathways dataset.

From Biocarta Pathways

proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the brca1-bard1 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the brca1-a complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-bard1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-b complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-c complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the brca1-a complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BACH1-DNA damage complex II protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-BACH1 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1 A complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-core RNA polymerase II complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the LMO4-BRCA1-CTIP-LDB1 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1 C complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BRCA2-DNA damage complex III protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-CTIP-ZBRK1 repressor complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-VCP complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-RAD50-MRE11-NBS1 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the RAD50-BRCA1 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-IRIS-pre-replication complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-CtIP-CtBP complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BARD1-BRCA1-CSTF complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BASC (Ab 80) complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1 B complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BACH1-DNA damage complex I protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the SWI-SNF chromatin remodeling-related-BRCA1 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-LMO4-CTIP complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-HDAC1-HDAC2 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-RNA polymerase II complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-POLR2A complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-SMAD3 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BASC (Ab C-20) complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BASC (Ab 81) complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-cABL complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-RAD51 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BARD1-BRCA1-CSTF64 complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-UbcH5c complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BASC complex (BRCA1-associated genome surveillance complex) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-UbcH7c complex protein complex from the CORUM Protein Complexes dataset.

From GAD Gene-Disease Associations

genes associated with the disease germline brca1 mutation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease genotyping of frequent brca1/2 snps in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GO Cellular Component Annotations 2015

proteins localized to the brca1-bard1 complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the brca1-a complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Ovarian cancer in BRCA1 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Breast Cancer in BRCA1 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the BRCA1-associated 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Breast cancer type 1 susceptibility protein (BRCA1) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the BRCA1, serine-rich domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAM175 family, BRCA1-A complex, Abraxas subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cofactor of BRCA1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the BRISC and BRCA1-A complex member 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From NURSA Protein Complexes

proteins in the SC-6954 (BRCA1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

From NURSA Protein Complexes

proteins in the AB80 (BRCA1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

From NURSA Protein Complexes

proteins in the AB81 (BRCA1) protein complex recovered by IP-MS from the NURSA Protein Complexes dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Brca1 Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Breast/Ovarian Cancer - Brca1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From GO Cellular Component Annotations 2023

proteins localized to the BRCA1-BARD1 complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

From GO Cellular Component Annotations 2025

proteins localized to the BRCA1-BARD1 complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue UWB1.289+BRCA1 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-A complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-BARD1 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-C complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the BRCA1-B complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-A complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-BARD1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-C complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-B complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the BRCA1-Rad51 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the BRCA1-related cancer predisposition phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the BRCA1 mutation in breast cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the BRCA1/2-negative high-risk breast cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Breast Cancer in BRCA1 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.