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Protein

Breast cancer type 1 susceptibility protein

Gene

BRCA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. 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. 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. Acts as a transcriptional activator (PubMed:20160719).16 Publications

Catalytic activityi

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.6 Publications

Enzyme regulationi

The E3 ubiquitin-protein ligase activity is inhibited by phosphorylation by AURKA. Activity is increased by phosphatase treatment.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri24 – 65RING-typePROSITE-ProRule annotationAdd BLAST42

GO - Molecular functioni

  • androgen receptor binding Source: UniProtKB
  • damaged DNA binding Source: Ensembl
  • DNA binding Source: ProtInc
  • enzyme binding Source: UniProtKB
  • RNA binding Source: MGI
  • RNA polymerase binding Source: UniProtKB
  • RNA polymerase II transcription coactivator activity Source: UniProtKB
  • transcription coactivator activity Source: UniProtKB
  • transcription regulatory region DNA binding Source: BHF-UCL
  • tubulin binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB
  • ubiquitin-protein transferase activity Source: UniProtKB
  • zinc ion binding Source: ProtInc

GO - Biological processi

  • androgen receptor signaling pathway Source: UniProtKB
  • apoptotic process Source: UniProtKB
  • cellular response to DNA damage stimulus Source: ProtInc
  • cellular response to indole-3-methanol Source: UniProtKB
  • cellular response to tumor necrosis factor Source: BHF-UCL
  • centrosome cycle Source: Ensembl
  • chordate embryonic development Source: GO_Central
  • chromosome segregation Source: UniProtKB
  • DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Source: UniProtKB
  • DNA double-strand break processing Source: Reactome
  • DNA replication Source: Reactome
  • DNA synthesis involved in DNA repair Source: Reactome
  • dosage compensation by inactivation of X chromosome Source: GO_Central
  • double-strand break repair Source: CACAO
  • double-strand break repair via homologous recombination Source: HGNC
  • double-strand break repair via nonhomologous end joining Source: Reactome
  • fatty acid biosynthetic process Source: UniProtKB-KW
  • G2 DNA damage checkpoint Source: UniProtKB
  • intrinsic apoptotic signaling pathway in response to DNA damage Source: MGI
  • mitotic G2/M transition checkpoint Source: Ensembl
  • negative regulation of centriole replication Source: UniProtKB
  • negative regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: BHF-UCL
  • negative regulation of fatty acid biosynthetic process Source: UniProtKB
  • negative regulation of histone acetylation Source: GO_Central
  • negative regulation of histone H3-K4 methylation Source: Ensembl
  • negative regulation of histone H3-K9 methylation Source: BHF-UCL
  • negative regulation of intracellular estrogen receptor signaling pathway Source: CACAO
  • negative regulation of reactive oxygen species metabolic process Source: BHF-UCL
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of angiogenesis Source: BHF-UCL
  • positive regulation of cell cycle arrest Source: BHF-UCL
  • positive regulation of DNA repair Source: UniProtKB
  • positive regulation of gene expression Source: BHF-UCL
  • positive regulation of histone acetylation Source: BHF-UCL
  • positive regulation of histone H3-K4 methylation Source: BHF-UCL
  • positive regulation of histone H3-K9 acetylation Source: BHF-UCL
  • positive regulation of histone H3-K9 methylation Source: Ensembl
  • positive regulation of histone H4-K16 acetylation Source: BHF-UCL
  • positive regulation of histone H4-K20 methylation Source: BHF-UCL
  • positive regulation of protein ubiquitination Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • positive regulation of vascular endothelial growth factor production Source: BHF-UCL
  • postreplication repair Source: HGNC
  • protein autoubiquitination Source: UniProtKB
  • protein deubiquitination Source: Reactome
  • protein K6-linked ubiquitination Source: UniProtKB
  • protein ubiquitination Source: HGNC
  • regulation of apoptotic process Source: UniProtKB
  • regulation of cell proliferation Source: UniProtKB
  • regulation of DNA methylation Source: Ensembl
  • regulation of gene expression by genetic imprinting Source: Ensembl
  • regulation of signal transduction by p53 class mediator Source: Reactome
  • regulation of transcription from RNA polymerase III promoter Source: UniProtKB
  • regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • response to estrogen Source: UniProtKB
  • response to ionizing radiation Source: UniProtKB
  • strand displacement Source: Reactome

Keywordsi

Molecular functionActivator, DNA-binding, Transferase
Biological processCell cycle, DNA damage, DNA recombination, DNA repair, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transcription, Transcription regulation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDAi6.3.2.19. 2681.
ReactomeiR-HSA-1221632. Meiotic synapsis.
R-HSA-3108214. SUMOylation of DNA damage response and repair proteins.
R-HSA-5685938. HDR through Single Strand Annealing (SSA).
R-HSA-5685942. HDR through Homologous Recombination (HRR).
R-HSA-5689901. Metalloprotease DUBs.
R-HSA-5693554. Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).
R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
R-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-5693571. Nonhomologous End-Joining (NHEJ).
R-HSA-5693579. Homologous DNA Pairing and Strand Exchange.
R-HSA-5693607. Processing of DNA double-strand break ends.
R-HSA-5693616. Presynaptic phase of homologous DNA pairing and strand exchange.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
R-HSA-6804756. Regulation of TP53 Activity through Phosphorylation.
R-HSA-69473. G2/M DNA damage checkpoint.
R-HSA-8953750. Transcriptional Regulation by E2F6.
R-HSA-912446. Meiotic recombination.
SignaLinkiP38398.
SIGNORiP38398.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
Breast cancer type 1 susceptibility protein (EC:2.3.2.276 Publications)
Alternative name(s):
RING finger protein 53
RING-type E3 ubiquitin transferase BRCA1Curated
Gene namesi
Name:BRCA1
Synonyms:RNF53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000012048.20.
HGNCiHGNC:1100. BRCA1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Breast cancer (BC)22 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
See also OMIM:114480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0704584S → F in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs786203152Ensembl.1
Natural variantiVAR_02067910E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_06389918M → T in BC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs80356929Ensembl.1
Natural variantiVAR_00775622L → S in BC. 1 PublicationCorresponds to variant dbSNP:rs80357438Ensembl.1
Natural variantiVAR_02068023E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_07045945K → Q in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs769650474Ensembl.1
Natural variantiVAR_00775761C → G in BC and ovarian cancer; no interaction with BAP1. 7 PublicationsCorresponds to variant dbSNP:rs28897672Ensembl.1
Natural variantiVAR_00775864C → G in BC; no interaction with BAP1. 4 PublicationsCorresponds to variant dbSNP:rs80357064Ensembl.1
Natural variantiVAR_07046067D → Y in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357102Ensembl.1
Natural variantiVAR_02068171R → K in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356913Ensembl.1
Natural variantiVAR_070462132N → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357413Ensembl.1
Natural variantiVAR_070463142P → H in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs55971303Ensembl.1
Natural variantiVAR_070464147L → F in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs748876625Ensembl.1
Natural variantiVAR_070465165L → P in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_070466170R → W in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357325Ensembl.1
Natural variantiVAR_070467186S → Y in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs55688530Ensembl.1
Natural variantiVAR_070468191V → I in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357090Ensembl.1
Natural variantiVAR_070469231T → M in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357001Ensembl.1
Natural variantiVAR_070470245D → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356865Ensembl.1
Natural variantiVAR_070471246L → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897675Ensembl.1
Natural variantiVAR_070472271V → L in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357244Ensembl.1
Natural variantiVAR_007761271V → M in BC. 1 PublicationCorresponds to variant dbSNP:rs80357244Ensembl.1
Natural variantiVAR_008760346P → S in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357015Ensembl.1
Natural variantiVAR_007763369Missing in BC. 1
Natural variantiVAR_007765461F → L in BC. 1 PublicationCorresponds to variant dbSNP:rs56046357Ensembl.1
Natural variantiVAR_007766465Y → D in BC. 1 PublicationCorresponds to variant dbSNP:rs397508869Ensembl.1
Natural variantiVAR_007768552G → V in BC. 1 PublicationCorresponds to variant dbSNP:rs397508893Ensembl.1
Natural variantiVAR_070473668L → F in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357250Ensembl.1
Natural variantiVAR_070474695D → N in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897681Ensembl.1
Natural variantiVAR_020683749D → Y in BC. 1 PublicationCorresponds to variant dbSNP:rs80357114Ensembl.1
Natural variantiVAR_070475798P → L in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs876660005Ensembl.1
Natural variantiVAR_070476810N → Y in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897682Ensembl.1
Natural variantiVAR_007772826T → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897683Ensembl.1
Natural variantiVAR_070477841R → Q in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357337Ensembl.1
Natural variantiVAR_020686866R → Q in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_020687888H → Y in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357480Ensembl.1
Natural variantiVAR_007775892L → S in BC. 1 PublicationCorresponds to variant dbSNP:rs397508994Ensembl.1
Natural variantiVAR_007776960G → D in BC. 1 PublicationCorresponds to variant dbSNP:rs397509022Ensembl.1
Natural variantiVAR_0077781025T → I in BC. 1 PublicationCorresponds to variant dbSNP:rs397509034Ensembl.1
Natural variantiVAR_0077811047V → A in BC. 1 PublicationCorresponds to variant dbSNP:rs397509037Ensembl.1
Natural variantiVAR_0704791101S → N in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs41293447Ensembl.1
Natural variantiVAR_0206891139S → I in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357228Ensembl.1
Natural variantiVAR_0199451140S → G in BC; unknown pathological significance; functionally neutral in vitro. 2 PublicationsCorresponds to variant dbSNP:rs2227945Ensembl.1
Natural variantiVAR_0704801140S → N in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0077821150P → S in BC. 1 PublicationCorresponds to variant dbSNP:rs80357272Ensembl.1
Natural variantiVAR_0206901187S → I in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0206911200Q → H in BC and BROVCA1. 1 PublicationCorresponds to variant dbSNP:rs56214134Ensembl.1
Natural variantiVAR_0206921204R → I in BC. 1 Publication1
Natural variantiVAR_0206931207K → N in BC. 1 Publication1
Natural variantiVAR_0206941210E → G in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0704811214E → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356923Ensembl.1
Natural variantiVAR_0206951217S → Y in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0520781236N → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897687Ensembl.1
Natural variantiVAR_0704821267L → S in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs587782190Ensembl.1
Natural variantiVAR_0704831282E → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357217Ensembl.1
Natural variantiVAR_0206981297S → P in BC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0704841297Missing in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0704851301S → R in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs273900719Ensembl.1
Natural variantiVAR_0704861346E → K in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357407Ensembl.1
Natural variantiVAR_0704871378V → I in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs28897690Ensembl.1
Natural variantiVAR_0704881400M → V in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357306Ensembl.1
Natural variantiVAR_0704891407L → P in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357492Ensembl.1
Natural variantiVAR_0206991411M → T in BC and ovarian cancer; unknown pathological significance; decreased interaction with PALB2. 3 PublicationsCorresponds to variant dbSNP:rs273900729Ensembl.1
Natural variantiVAR_0077871443R → G in BC; unknown pathological significance; functionally neutral in vitro. 3 PublicationsCorresponds to variant dbSNP:rs41293455Ensembl.1
Natural variantiVAR_0704901448S → G in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357486Ensembl.1
Natural variantiVAR_0704911486S → C in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs397507232Ensembl.1
Natural variantiVAR_0639001495R → M in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357389Ensembl.1
Natural variantiVAR_0704921534V → M in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs55815649Ensembl.1
Natural variantiVAR_0704931589R → P in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0704941651S → F in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356938Ensembl.1
Natural variantiVAR_0704951651S → P in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879254042Ensembl.1
Natural variantiVAR_0704961655S → F in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357390Ensembl.1
Natural variantiVAR_0639021685T → A in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356890Ensembl.1
Natural variantiVAR_0704971686H → Q in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs397509218Ensembl.1
Natural variantiVAR_0704981686H → R in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs730882166Ensembl.1
Natural variantiVAR_0704991688Missing in BC; unknown pathological significance; functionally impaired in vitro. 1 Publication1
Natural variantiVAR_0639041689M → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357061Ensembl.1
Natural variantiVAR_0705001691T → I in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357034Ensembl.1
Natural variantiVAR_0705011699R → Q in BC; unknown pathological significance; strongly reduces affinity for a BRIP1 phosphopeptide; functionally impaired in vitro. 2 PublicationsCorresponds to variant dbSNP:rs41293459Ensembl.1
Natural variantiVAR_0756661699R → W in BC and ovarian cancer; impairs protein stability; functionally impaired in vitro. 4 PublicationsCorresponds to variant dbSNP:rs55770810Ensembl.1
Natural variantiVAR_0705021706G → A in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356860Ensembl.1
Natural variantiVAR_0639051706G → E in BC; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs80356860Ensembl.1
Natural variantiVAR_0077961708A → E in BC; abolishes ACACA binding. 3 PublicationsCorresponds to variant dbSNP:rs28897696Ensembl.1
Natural variantiVAR_0639061715S → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357094Ensembl.1
Natural variantiVAR_0705031718W → C in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357239Ensembl.1
Natural variantiVAR_0705041720T → A in BC; unknown pathological significance; functionally neutral in vitro; no effect on in vitro phosphorylation by ATR. 2 PublicationsCorresponds to variant dbSNP:rs56195342Ensembl.1
Natural variantiVAR_0705051735E → K in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397509238Ensembl.1
Natural variantiVAR_0705061736V → A in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45553935Ensembl.1
Natural variantiVAR_0639071738G → R in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80356937Ensembl.1
Natural variantiVAR_0705071739D → G in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357227Ensembl.1
Natural variantiVAR_0705081739D → V in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357227Ensembl.1
Natural variantiVAR_0705091746H → Q in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs786202389Ensembl.1
Natural variantiVAR_0705101753R → T in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397509246Ensembl.1
Natural variantiVAR_0639081764L → P in BC; unknown pathological significance; functionally impaired in vitro. 2 PublicationsCorresponds to variant dbSNP:rs80357281Ensembl.1
Natural variantiVAR_0639091766I → S in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357463Ensembl.1
Natural variantiVAR_0705111767C → S in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0705121770G → V in BC; unknown pathological significance; functionally impaired in vitro. 1 Publication1
Natural variantiVAR_0632121775M → K in BC; strongly reduced transcription transactivation; abolishes interaction with BRIP1 and RBBP8. 1 PublicationCorresponds to variant dbSNP:rs41293463Ensembl.1
Natural variantiVAR_0077991775M → R in BC; alters protein stability and abolishes ACACA and BRIP1 binding. 5 PublicationsCorresponds to variant dbSNP:rs41293463Ensembl.1
Natural variantiVAR_0796071780L → P in BC, BROVCA1 and OC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0705131782W → C in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0639101788G → V in BC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80357069Ensembl.1
Natural variantiVAR_0705141789A → T in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357078Ensembl.1
Natural variantiVAR_0705151794E → D in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs397509275Ensembl.1
Natural variantiVAR_0705161804V → D in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356920Ensembl.1
Natural variantiVAR_0705171812P → R in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication1
Natural variantiVAR_0705181837W → R in BC; unknown pathological significance; functionally impaired in vitro. 1 PublicationCorresponds to variant dbSNP:rs80356959Ensembl.1
Natural variantiVAR_0705191862H → L in BC; unknown pathological significance; functionally neutral in vitro. 1 PublicationCorresponds to variant dbSNP:rs80357183Ensembl.1
Breast-ovarian cancer, familial, 1 (BROVCA1)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer.
Disease descriptionA condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.
See also OMIM:604370
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02067910E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_02068023E → K in BC and BROVCA1. 1 Publication1
Natural variantiVAR_020684835H → Y in BROVCA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751656678Ensembl.1
Natural variantiVAR_007773841R → W in BROVCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1800709Ensembl.1
Natural variantiVAR_0206901187S → I in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0206911200Q → H in BC and BROVCA1. 1 PublicationCorresponds to variant dbSNP:rs56214134Ensembl.1
Natural variantiVAR_0206951217S → Y in BC and BROVCA1. 1 Publication1
Natural variantiVAR_0206961226F → L in BROVCA1. 1 Publication1
Natural variantiVAR_0206971243R → G in BROVCA1. 1 Publication1
Natural variantiVAR_0796071780L → P in BC, BROVCA1 and OC; unknown pathological significance. 1 Publication1
Natural variantiVAR_0207041786L → P in BROVCA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122697Ensembl.1
Ovarian cancer (OC)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionThe term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.
See also OMIM:167000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0796071780L → P in BC, BROVCA1 and OC; unknown pathological significance. 1 Publication1
Pancreatic cancer 4 (PNCA4)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
See also OMIM:614320

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi26I → A: Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity. 2 Publications1
Mutagenesisi26I → E: No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage. 2 Publications1
Mutagenesisi71R → G: No effect on interaction with BAP1. 1 Publication1
Mutagenesisi308S → N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis. 1 Publication1
Mutagenesisi1143S → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1239S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1280S → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1298S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1330S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1387S → A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR. 2 Publications1
Mutagenesisi1394T → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1423S → A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR. 2 Publications1
Mutagenesisi1457S → A: Reduces in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1466S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1524S → A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR. 2 Publications1
Mutagenesisi1655S → A: Abolishes interaction with BRIP1. 1 Publication1
Mutagenesisi1656G → D: No effect on affinity for a BRIP1 phosphopeptide. 1 Publication1
Mutagenesisi1662F → S: Does not abolish ABRAXAS1 binding, but abolishes formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1663M → K: Does not abolish ABRAXAS1 binding, but abolishes formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1666Y → A: Does not abolish ABRAXAS1 binding, but impairs formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1670R → E: Impairs formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1671K → E: Impairs formation of a heterotetramer with ABRAXAS1. 1 Publication1
Mutagenesisi1700T → A: Strongly reduces affinity for a BRIP1 phosphopeptide. 1 Publication1
Mutagenesisi1702K → M: Abolishes interaction with BRIP1. 1 Publication1
Mutagenesisi1738G → E: Abolishes interaction with BRIP1. 1 Publication1
Mutagenesisi1755S → A: No effect on in vitro phosphorylation by ATR. 1 Publication1
Mutagenesisi1835R → P: Mildly reduces affinity for a BRIP1 phosphopeptide. 1 Publication1
Mutagenesisi1836E → K: Slightly reduces affinity for a BRIP1 phosphopeptide. 1 Publication1

Keywords - Diseasei

Disease mutation, Tumor suppressor

Organism-specific databases

DisGeNETi672.
GeneReviewsiBRCA1.
MalaCardsiBRCA1.
MIMi114480. phenotype.
167000. phenotype.
604370. phenotype.
614320. phenotype.
OpenTargetsiENSG00000012048.
Orphaneti1333. Familial pancreatic carcinoma.
1331. Familial prostate cancer.
145. Hereditary breast and ovarian cancer syndrome.
227535. Hereditary breast cancer.
213524. Hereditary site-specific ovarian cancer syndrome.
168829. Primary peritoneal carcinoma.
PharmGKBiPA25411.

Chemistry databases

ChEMBLiCHEMBL5990.

Polymorphism and mutation databases

BioMutaiBRCA1.
DMDMi728984.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000558301 – 1863Breast cancer type 1 susceptibility proteinAdd BLAST1863

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Cross-linki109Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei114PhosphoserineCombined sources1
Cross-linki301Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei308Phosphoserine; by AURKA1 Publication1
Cross-linki339Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei395PhosphoserineCombined sources1
Modified residuei398PhosphoserineCombined sources1
Modified residuei423PhosphoserineCombined sources1
Modified residuei434PhosphoserineCombined sources1
Cross-linki443Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki459Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki519Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei551PhosphoserineCombined sources1
Cross-linki583Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources