{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P38398","secondaryAccessions":["E9PFZ0","O15129","Q1RMC1","Q3LRJ0","Q3LRJ6","Q6IN79","Q7KYU9"],"uniProtkbId":"BRCA1_HUMAN","entryAudit":{"firstPublicDate":"1994-10-01","lastAnnotationUpdateDate":"2026-01-28","lastSequenceUpdateDate":"1995-02-01","entryVersion":283,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Breast cancer type 1 susceptibility protein"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10500182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12887909"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12890688"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16818604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18056443"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20351172"}],"value":"2.3.2.27"}]},"alternativeNames":[{"fullName":{"value":"RING finger protein 53"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"RING-type E3 ubiquitin transferase BRCA1"}}]},"genes":[{"geneName":{"value":"BRCA1"},"synonyms":[{"value":"RNF53"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10500182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10724175"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11836499"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12183412"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12887909"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12890688"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14976165"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16326698"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16818604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17525340"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18056443"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19261748"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19369211"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20160719"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20351172"}],"value":"E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:10500182, PubMed:12887909, PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:11836499, PubMed:12183412, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.","ecNumber":"2.3.2.27","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10500182"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12887909"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12890688"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16818604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18056443"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20351172"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18056443"}],"value":"The E3 ubiquitin-protein ligase activity is inhibited by phosphorylation by AURKA. Activity is increased by phosphatase treatment"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"value":"Protein modification; protein ubiquitination"}],"commentType":"PATHWAY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10724175"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10783165"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11301010"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11573085"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11739404"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11751867"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11836499"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11877377"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12360400"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12419185"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12890688"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14636569"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14976165"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15096610"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15133502"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15456891"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16101277"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16326698"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16698035"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16818604"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17525340"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17643121"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17643122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18452305"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19261746"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19261748"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19261749"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19369211"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20159462"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20160719"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20351172"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21473589"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21673012"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23086937"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23269703"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24316840"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26778126"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26807646"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28319063"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"34552057"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9528852"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9662397"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9811458"}],"value":"Heterodimer with BARD1 (PubMed:11573085, PubMed:12890688, PubMed:14976165). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the MRE11-RAD50-NBN protein (MRN) complex (PubMed:10783165). This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains (PubMed:10783165). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19261746, PubMed:19261748, PubMed:19261749, PubMed:20351172). Interacts (via the BRCT domains) with ABRAXAS1 (phosphorylated form); this is important for recruitment to sites of DNA damage (PubMed:17525340, PubMed:17643121, PubMed:17643122, PubMed:23269703, PubMed:24316840, PubMed:26778126). Can form a heterotetramer with two molecules of ABRAXAS1 (phosphorylated form) (PubMed:26778126). Component of the BRCA1-RBBP8 complex (PubMed:16101277). Interacts (via the BRCT domains) with RBBP8 ('Ser-327' phosphorylated form); the interaction ubiquitinates RBBP8, regulates CHEK1 activation, and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage (PubMed:16818604, PubMed:9811458). Associates with RNA polymerase II holoenzyme (PubMed:9662397). Interacts with SMC1A, NELFB, DCLRE1C, CLSPN (PubMed:11739404, PubMed:11877377, PubMed:15096610, PubMed:15456891). Interacts with CHEK1, CHEK2, BAP1, BRCC3, UBXN1 and PCLAF (PubMed:10724175, PubMed:11836499, PubMed:14636569, PubMed:20351172, PubMed:21673012). Interacts (via BRCT domains) with BRIP1 (phosphorylated form) (PubMed:11301010, PubMed:15133502, PubMed:21473589). Interacts with FANCD2 (ubiquitinated form) (PubMed:11239454). Interacts with H2AX (phosphorylated on 'Ser-140') (PubMed:12419185). Interacts (via the BRCT domains) with ACACA (phosphorylated form); the interaction prevents dephosphorylation of ACACA (PubMed:12360400, PubMed:16326698, PubMed:16698035, PubMed:18452305). Part of a BRCA complex containing BRCA1, BRCA2 and PALB2 (PubMed:19369211). Interacts directly with PALB2; the interaction is essential for its function in HRR (PubMed:19369211, PubMed:28319063). Interacts directly with BRCA2; the interaction occurs only in the presence of PALB2 which serves as the bridging protein (PubMed:19369211). Interacts (via the BRCT domains) with LMO4; the interaction represses the transcriptional activity of BRCA1 (PubMed:11751867). Interacts (via the BRCT domains) with CCAR2 (via N-terminus); the interaction represses the transcriptional activator activity of BRCA1 (PubMed:20160719). Interacts with EXD2 (PubMed:26807646). Interacts (via C-terminus) with DHX9; this interaction is direct and links BRCA1 to the RNA polymerase II holoenzyme (PubMed:9662397). Interacts with DNA helicase ZGRF1; the interaction is increased following DNA damage induction (PubMed:34552057). Interacts with FBXO44; this interaction mediates BRCA1 ubiquitination and subsequent degradation (PubMed:23086937)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q6UWZ7","geneName":"ABRAXAS1","intActId":"EBI-1263451"},"numberOfExperiments":16,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q13085","geneName":"ACACA","intActId":"EBI-717681"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q92560","geneName":"BAP1","intActId":"EBI-1791447"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q99728","geneName":"BARD1","intActId":"EBI-473181"},"numberOfExperiments":20,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q7Z569","geneName":"BRAP","intActId":"EBI-349900"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q6PJG6","geneName":"BRAT1","intActId":"EBI-10826195"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P38398","geneName":"BRCA1","intActId":"EBI-349905"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q9BX63","geneName":"BRIP1","intActId":"EBI-3509650"},"numberOfExperiments":33,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P24385","geneName":"CCND1","intActId":"EBI-375001"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P24864","geneName":"CCNE1","intActId":"EBI-519526"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"O14757","geneName":"CHEK1","intActId":"EBI-974488"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P03372","geneName":"ESR1","intActId":"EBI-78473"},"numberOfExperiments":16,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q92731","geneName":"ESR2","intActId":"EBI-78505"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"O15360","geneName":"FANCA","intActId":"EBI-81570"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q9BXW9","geneName":"FANCD2","intActId":"EBI-359343"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q14192","geneName":"FHL2","intActId":"EBI-701903"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P78347","geneName":"GTF2I","intActId":"EBI-359622"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P16104","geneName":"H2AX","intActId":"EBI-494830"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"O75330","geneName":"HMMR","intActId":"EBI-2556203"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P10809","geneName":"HSPD1","intActId":"EBI-352528"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q16666","geneName":"IFI16","intActId":"EBI-2867186"},"numberOfExperiments":9,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"P52292","geneName":"KPNA2","intActId":"EBI-349938"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398","intActId":"EBI-349905"},"interactantTwo":{"uniProtKBAccession":"Q14676","geneName":"MDC1","intActId":"EBI-495644"},"numberOfExperiments":4,"organi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8398-6","intActId":"EBI-25833510"},"interactantTwo":{"uniProtKBAccession":"Q14457","geneName":"BECN1","intActId":"EBI-949378"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P38398-6","intActId":"EBI-25833510"},"interactantTwo":{"uniProtKBAccession":"P42858","geneName":"HTT","intActId":"EBI-466029"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR 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Translocated to the cytoplasm during UV-induced apoptosis (PubMed:20160719)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15133502"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17525340"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20160719"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21144835"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26778126"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9528852"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23269703"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25472942"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26778126"}],"value":"Chromosome","id":"SL-0468"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20160719"}],"value":"Cytoplasm","id":"SL-0086"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 3","subcellularLocations":[{"location":{"value":"Cytoplasm","id":"SL-0086"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform 5","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8972225"}],"value":"Cytoplasm","id":"SL-0086"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing","Alternative initiation"],"isoforms":[{"name":{"value":"1"},"isoformIds":["P38398-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["P38398-2"],"sequenceIds":["VSP_047891"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"synonyms":[{"value":"Delta11b"}],"isoformIds":["P38398-3"],"sequenceIds":["VSP_035399","VSP_043797"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"synonyms":[{"value":"DeltaBRCA1(17aa)"}],"isoformIds":["P38398-4"],"sequenceIds":["VSP_035396"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"synonyms":[{"value":"Delta11"},{"value":"Delta772-3095"}],"isoformIds":["P38398-5"],"sequenceIds":["VSP_035398"],"isoformSequenceStatus":"Described"},{"name":{"value":"6"},"isoformIds":["P38398-6"],"sequenceIds":["VSP_035399","VSP_043797","VSP_043798"],"isoformSequenceStatus":"Described"},{"name":{"value":"7"},"isoformIds":["P38398-7"],"sequenceIds":["VSP_055404"],"isoformSequenceStatus":"Described"},{"name":{"value":"8"},"isoformIds":["P38398-8"],"sequenceIds":["VSP_057569"],"isoformSequenceStatus":"Described"}]},{"texts":[{"value":"Isoform 1 and isoform 3 are widely expressed. 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