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P38398

- BRCA1_HUMAN

UniProt

P38398 - BRCA1_HUMAN

Protein

Breast cancer type 1 susceptibility protein

Gene

BRCA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 196 (01 Oct 2014)
      Sequence version 2 (01 Feb 1995)
      Previous versions | rss
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    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 RBBP8.15 Publications

    Enzyme regulationi

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

    Pathwayi

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri24 – 6542RING-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. androgen receptor binding Source: UniProtKB
    2. DNA binding Source: ProtInc
    3. enzyme binding Source: UniProtKB
    4. ligase activity Source: UniProtKB-KW
    5. protein binding Source: IntAct
    6. RNA binding Source: MGI
    7. transcription coactivator activity Source: UniProtKB
    8. transcription regulatory region DNA binding Source: BHF-UCL
    9. tubulin binding Source: UniProtKB
    10. ubiquitin protein ligase binding Source: UniProtKB
    11. ubiquitin-protein transferase activity Source: UniProtKB
    12. zinc ion binding Source: ProtInc

    GO - Biological processi

    1. androgen receptor signaling pathway Source: UniProtKB
    2. apoptotic process Source: UniProtKB
    3. cellular response to DNA damage stimulus Source: ProtInc
    4. cellular response to indole-3-methanol Source: UniProtKB
    5. chromosome segregation Source: UniProtKB
    6. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Source: UniProtKB
    7. DNA repair Source: Reactome
    8. double-strand break repair Source: UniProtKB
    9. double-strand break repair via homologous recombination Source: HGNC
    10. fatty acid biosynthetic process Source: UniProtKB-KW
    11. G2 DNA damage checkpoint Source: UniProtKB
    12. intrinsic apoptotic signaling pathway in response to DNA damage Source: MGI
    13. negative regulation of centriole replication Source: UniProtKB
    14. negative regulation of fatty acid biosynthetic process Source: UniProtKB
    15. negative regulation of histone H3-K9 methylation Source: BHF-UCL
    16. negative regulation of transcription, DNA-templated Source: UniProtKB
    17. positive regulation of cell cycle arrest Source: BHF-UCL
    18. positive regulation of DNA repair Source: UniProtKB
    19. positive regulation of histone acetylation Source: BHF-UCL
    20. positive regulation of histone H3-K4 methylation Source: BHF-UCL
    21. positive regulation of histone H3-K9 acetylation Source: BHF-UCL
    22. positive regulation of histone H4-K16 acetylation Source: BHF-UCL
    23. positive regulation of histone H4-K20 methylation Source: BHF-UCL
    24. positive regulation of protein ubiquitination Source: UniProtKB
    25. positive regulation of transcription, DNA-templated Source: UniProtKB
    26. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    27. postreplication repair Source: HGNC
    28. protein autoubiquitination Source: UniProtKB
    29. protein K6-linked ubiquitination Source: UniProtKB
    30. protein ubiquitination Source: HGNC
    31. regulation of apoptotic process Source: UniProtKB
    32. regulation of cell motility Source: BHF-UCL
    33. regulation of cell proliferation Source: UniProtKB
    34. regulation of transcription from RNA polymerase III promoter Source: UniProtKB
    35. regulation of transcription from RNA polymerase II promoter Source: ProtInc
    36. response to estrogen Source: UniProtKB
    37. response to ionizing radiation Source: UniProtKB
    38. substrate adhesion-dependent cell spreading Source: BHF-UCL

    Keywords - Molecular functioni

    Ligase

    Keywords - Biological processi

    Cell cycle, DNA damage, DNA recombination, DNA repair, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Ubl conjugation pathway

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_18410. Fanconi Anemia pathway.
    REACT_1924. ATM mediated phosphorylation of repair proteins.
    REACT_27271. Meiotic recombination.
    REACT_75792. Meiotic synapsis.
    REACT_97. Recruitment of repair and signaling proteins to double-strand breaks.
    SignaLinkiP38398.
    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Breast cancer type 1 susceptibility protein (EC:6.3.2.-)
    Alternative name(s):
    RING finger protein 53
    Gene namesi
    Name:BRCA1
    Synonyms:RNF53
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:1100. BRCA1.

    Subcellular locationi

    Nucleus 4 Publications. Chromosome By similarity
    Note: Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex.
    Isoform 5 : Cytoplasm 1 Publication

    GO - Cellular componenti

    1. BRCA1-A complex Source: UniProtKB
    2. BRCA1-BARD1 complex Source: UniProtKB
    3. chromosome Source: UniProtKB
    4. cytoplasm Source: HPA
    5. gamma-tubulin ring complex Source: UniProtKB
    6. nucleoplasm Source: Reactome
    7. nucleus Source: UniProtKB
    8. plasma membrane Source: BHF-UCL
    9. protein complex Source: UniProtKB
    10. ribonucleoprotein complex Source: MGI
    11. ruffle Source: BHF-UCL
    12. ubiquitin ligase complex Source: UniProtKB

    Keywords - Cellular componenti

    Chromosome, Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Breast cancer (BC) [MIM:114480]: A 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.15 Publications
    Note: 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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41S → F in BC; unknown pathological significance.
    VAR_070458
    Natural varianti10 – 101E → K in BC and BROVCA1. 1 Publication
    VAR_020679
    Natural varianti18 – 181M → T in BC; unknown pathological significance. 1 Publication
    VAR_063899
    Natural varianti22 – 221L → S in BC. 1 Publication
    VAR_007756
    Natural varianti23 – 231E → K in BC and BROVCA1. 1 Publication
    VAR_020680
    Natural varianti45 – 451K → Q in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070459
    Natural varianti61 – 611C → G in BC and ovarian cancer; no interaction with BAP1. 6 Publications
    Corresponds to variant rs28897672 [ dbSNP | Ensembl ].
    VAR_007757
    Natural varianti64 – 641C → G in BC; no interaction with BAP1. 3 Publications
    VAR_007758
    Natural varianti67 – 671D → Y in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070460
    Natural varianti71 – 711R → K in BC; unknown pathological significance. 1 Publication
    VAR_020681
    Natural varianti132 – 1321N → K in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070462
    Natural varianti142 – 1421P → H in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070463
    Natural varianti147 – 1471L → F in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070464
    Natural varianti165 – 1651L → P in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070465
    Natural varianti170 – 1701R → W in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070466
    Natural varianti186 – 1861S → Y in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070467
    Natural varianti191 – 1911V → I in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070468
    Natural varianti231 – 2311T → M in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070469
    Natural varianti245 – 2451D → V in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070470
    Natural varianti246 – 2461L → V in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070471
    Natural varianti271 – 2711V → L in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070472
    Natural varianti271 – 2711V → M in BC. 1 Publication
    Corresponds to variant rs80357244 [ dbSNP | Ensembl ].
    VAR_007761
    Natural varianti346 – 3461P → S in BC; unknown pathological significance. 1 Publication
    VAR_008760
    Natural varianti369 – 3691Missing in BC.
    VAR_007763
    Natural varianti461 – 4611F → L in BC. 1 Publication
    Corresponds to variant rs56046357 [ dbSNP | Ensembl ].
    VAR_007765
    Natural varianti465 – 4651Y → D in BC. 1 Publication
    VAR_007766
    Natural varianti552 – 5521G → V in BC. 1 Publication
    VAR_007768
    Natural varianti668 – 6681L → F in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070473
    Natural varianti695 – 6951D → N in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070474
    Natural varianti749 – 7491D → Y in BC. 1 Publication
    VAR_020683
    Natural varianti798 – 7981P → L in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070475
    Natural varianti810 – 8101N → Y in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070476
    Natural varianti826 – 8261T → K in BC; unknown pathological significance; functionally neutral in vitro.
    Corresponds to variant rs28897683 [ dbSNP | Ensembl ].
    VAR_007772
    Natural varianti841 – 8411R → Q in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070477
    Natural varianti866 – 8661R → Q in BC; unknown pathological significance. 1 Publication
    VAR_020686
    Natural varianti888 – 8881H → Y in BC; unknown pathological significance. 1 Publication
    VAR_020687
    Natural varianti892 – 8921L → S in BC. 1 Publication
    VAR_007775
    Natural varianti960 – 9601G → D in BC. 1 Publication
    VAR_007776
    Natural varianti1025 – 10251T → I in BC. 1 Publication
    VAR_007778
    Natural varianti1047 – 10471V → A in BC. 1 Publication
    VAR_007781
    Natural varianti1101 – 11011S → N in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070479
    Natural varianti1139 – 11391S → I in BC; unknown pathological significance. 1 Publication
    VAR_020689
    Natural varianti1140 – 11401S → G in BC; unknown pathological significance; functionally neutral in vitro. 1 Publication
    Corresponds to variant rs2227945 [ dbSNP | Ensembl ].
    VAR_019945
    Natural varianti1140 – 11401S → N in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070480
    Natural varianti1150 – 11501P → S in BC. 1 Publication
    Corresponds to variant rs80357272 [ dbSNP | Ensembl ].
    VAR_007782
    Natural varianti1187 – 11871S → I in BC and BROVCA1. 1 Publication
    VAR_020690
    Natural varianti1200 – 12001Q → H in BC and BROVCA1. 1 Publication
    Corresponds to variant rs56214134 [ dbSNP | Ensembl ].
    VAR_020691
    Natural varianti1204 – 12041R → I in BC. 1 Publication
    VAR_020692
    Natural varianti1207 – 12071K → N in BC. 1 Publication
    VAR_020693
    Natural varianti1210 – 12101E → G in BC; unknown pathological significance. 1 Publication
    VAR_020694
    Natural varianti1214 – 12141E → K in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070481
    Natural varianti1217 – 12171S → Y in BC and BROVCA1. 1 Publication
    VAR_020695
    Natural varianti1236 – 12361N → K in BC; unknown pathological significance; functionally neutral in vitro.
    Corresponds to variant rs28897687 [ dbSNP | Ensembl ].
    VAR_052078
    Natural varianti1267 – 12671L → S in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070482
    Natural varianti1282 – 12821E → V in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070483
    Natural varianti1297 – 12971S → P in BC; unknown pathological significance. 1 Publication
    VAR_020698
    Natural varianti1297 – 12971Missing in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070484
    Natural varianti1301 – 13011S → R in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070485
    Natural varianti1346 – 13461E → K in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070486
    Natural varianti1378 – 13781V → I in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070487
    Natural varianti1400 – 14001M → V in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070488
    Natural varianti1407 – 14071L → P in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070489
    Natural varianti1411 – 14111M → T in BC and ovarian cancer; unknown pathological significance; decreased interaction with PALB2. 1 Publication
    VAR_020699
    Natural varianti1443 – 14431R → G in BC; unknown pathological significance; functionally neutral in vitro. 2 Publications
    VAR_007787
    Natural varianti1448 – 14481S → G in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070490
    Natural varianti1486 – 14861S → C in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070491
    Natural varianti1495 – 14951R → M in BC; unknown pathological significance. 1 Publication
    VAR_063900
    Natural varianti1534 – 15341V → M in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070492
    Natural varianti1589 – 15891R → P in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070493
    Natural varianti1651 – 16511S → F in BC; unknown pathological significance.
    VAR_070494
    Natural varianti1651 – 16511S → P in BC; unknown pathological significance.
    VAR_070495
    Natural varianti1655 – 16551S → F in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070496
    Natural varianti1685 – 16851T → A in BC; unknown pathological significance. 1 Publication
    VAR_063902
    Natural varianti1686 – 16861H → Q in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070497
    Natural varianti1686 – 16861H → R in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070498
    Natural varianti1688 – 16881Missing in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070499
    Natural varianti1689 – 16891M → R in BC; unknown pathological significance. 1 Publication
    VAR_063904
    Natural varianti1691 – 16911T → I in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070500
    Natural varianti1699 – 16991R → Q in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070501
    Natural varianti1699 – 16991R → W in BC and ovarian cancer; functionally impaired in vitro. 2 Publications
    VAR_020703
    Natural varianti1706 – 17061G → A in BC; unknown pathological significance.
    VAR_070502
    Natural varianti1706 – 17061G → E in BC; unknown pathological significance. 1 Publication
    Corresponds to variant rs80356860 [ dbSNP | Ensembl ].
    VAR_063905
    Natural varianti1708 – 17081A → E in BC; abolishes ACACA binding. 2 Publications
    Corresponds to variant rs28897696 [ dbSNP | Ensembl ].
    VAR_007796
    Natural varianti1715 – 17151S → R in BC; unknown pathological significance. 1 Publication
    VAR_063906
    Natural varianti1718 – 17181W → C in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070503
    Natural varianti1720 – 17201T → A in BC; unknown pathological significance; functionally neutral in vitro; no effect on in vitro phosphorylation by ATR.
    VAR_070504
    Natural varianti1735 – 17351E → K in BC; unknown pathological significance.
    VAR_070505
    Natural varianti1736 – 17361V → A in BC; unknown pathological significance.
    VAR_070506
    Natural varianti1738 – 17381G → R in BC; unknown pathological significance. 1 Publication
    VAR_063907
    Natural varianti1739 – 17391D → G in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070507
    Natural varianti1739 – 17391D → V in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070508
    Natural varianti1746 – 17461H → Q in BC; unknown pathological significance.
    VAR_070509
    Natural varianti1753 – 17531R → T in BC; unknown pathological significance.
    VAR_070510
    Natural varianti1764 – 17641L → P in BC; unknown pathological significance; functionally impaired in vitro. 1 Publication
    VAR_063908
    Natural varianti1766 – 17661I → S in BC; unknown pathological significance. 1 Publication
    VAR_063909
    Natural varianti1767 – 17671C → S in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070511
    Natural varianti1770 – 17701G → V in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070512
    Natural varianti1775 – 17751M → K in BC; strongly reduced transcription transactivation; abolishes interaction with BRIP1 and RBBP8. 1 Publication
    VAR_063212
    Natural varianti1775 – 17751M → R in BC; alters protein stability and abolishes ACACA and BRIP1 binding. 2 Publications
    VAR_007799
    Natural varianti1782 – 17821W → C in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070513
    Natural varianti1788 – 17881G → V in BC; unknown pathological significance. 1 Publication
    VAR_063910
    Natural varianti1789 – 17891A → T in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070514
    Natural varianti1794 – 17941E → D in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070515
    Natural varianti1804 – 18041V → D in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070516
    Natural varianti1812 – 18121P → R in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070517
    Natural varianti1837 – 18371W → R in BC; unknown pathological significance; functionally impaired in vitro.
    VAR_070518
    Natural varianti1862 – 18621H → L in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070519
    Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]: A 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.3 Publications
    Note: 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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101E → K in BC and BROVCA1. 1 Publication
    VAR_020679
    Natural varianti23 – 231E → K in BC and BROVCA1. 1 Publication
    VAR_020680
    Natural varianti835 – 8351H → Y in BROVCA1; unknown pathological significance. 1 Publication
    VAR_020684
    Natural varianti841 – 8411R → W in BROVCA1; unknown pathological significance. 2 Publications
    Corresponds to variant rs1800709 [ dbSNP | Ensembl ].
    VAR_007773
    Natural varianti1187 – 11871S → I in BC and BROVCA1. 1 Publication
    VAR_020690
    Natural varianti1200 – 12001Q → H in BC and BROVCA1. 1 Publication
    Corresponds to variant rs56214134 [ dbSNP | Ensembl ].
    VAR_020691
    Natural varianti1217 – 12171S → Y in BC and BROVCA1. 1 Publication
    VAR_020695
    Natural varianti1226 – 12261F → L in BROVCA1. 1 Publication
    VAR_020696
    Natural varianti1243 – 12431R → G in BROVCA1. 1 Publication
    VAR_020697
    Natural varianti1786 – 17861L → P in BROVCA1; unknown pathological significance. 1 Publication
    VAR_020704
    Ovarian cancer (OC) [MIM:167000]: The 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.3 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Pancreatic cancer 4 (PNCA4) [MIM:614320]: A 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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi26 – 261I → A: Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity. 2 Publications
    Mutagenesisi26 – 261I → E: No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage. 2 Publications
    Mutagenesisi71 – 711R → G: No effect on interaction with BAP1. 1 Publication
    Mutagenesisi308 – 3081S → N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis. 1 Publication
    Mutagenesisi1143 – 11431S → A: Reduces in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1239 – 12391S → A: No effect on in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1280 – 12801S → A: Reduces in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1298 – 12981S → A: No effect on in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1330 – 13301S → A: No effect on in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1387 – 13871S → A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR. 2 Publications
    Mutagenesisi1394 – 13941T → A: Reduces in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1423 – 14231S → A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR. 2 Publications
    Mutagenesisi1457 – 14571S → A: Reduces in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1466 – 14661S → A: No effect on in vitro phosphorylation by ATR. 1 Publication
    Mutagenesisi1524 – 15241S → A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR. 2 Publications
    Mutagenesisi1655 – 16551S → A: Abolishes interaction with BRIP1. 1 Publication
    Mutagenesisi1702 – 17021K → M: Abolishes interaction with BRIP1. 1 Publication
    Mutagenesisi1738 – 17381G → E: Abolishes interaction with BRIP1. 1 Publication
    Mutagenesisi1755 – 17551S → A: No effect on in vitro phosphorylation by ATR. 1 Publication

    Keywords - Diseasei

    Disease mutation, Tumor suppressor

    Organism-specific databases

    MIMi114480. phenotype.
    167000. phenotype.
    604370. phenotype.
    614320. phenotype.
    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.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 18631863Breast cancer type 1 susceptibility proteinPRO_0000055830Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei114 – 1141Phosphoserine2 Publications
    Modified residuei308 – 3081Phosphoserine; by AURKA1 Publication
    Modified residuei395 – 3951Phosphoserine2 Publications
    Modified residuei398 – 3981Phosphoserine2 Publications
    Modified residuei423 – 4231Phosphoserine1 Publication
    Modified residuei694 – 6941Phosphoserine1 Publication
    Modified residuei753 – 7531Phosphoserine1 Publication
    Modified residuei840 – 8401PhosphoserineBy similarity
    Modified residuei988 – 9881Phosphoserine; by CHEK22 Publications
    Modified residuei1143 – 11431Phosphoserine; by ATR; in vitro1 Publication
    Modified residuei1211 – 12111Phosphoserine1 Publication
    Modified residuei1217 – 12171Phosphoserine1 Publication
    Modified residuei1218 – 12181Phosphoserine2 Publications
    Modified residuei1280 – 12801Phosphoserine; by ATR; in vitro1 Publication
    Modified residuei1328 – 13281Phosphoserine1 Publication
    Modified residuei1336 – 13361Phosphoserine3 Publications
    Modified residuei1342 – 13421Phosphoserine2 Publications
    Modified residuei1387 – 13871Phosphoserine; by ATM and ATR1 Publication
    Modified residuei1394 – 13941Phosphothreonine; by ATR; in vitro1 Publication
    Modified residuei1423 – 14231Phosphoserine; by ATM and ATR1 Publication
    Modified residuei1457 – 14571Phosphoserine; by ATR; in vitro1 Publication
    Modified residuei1524 – 15241Phosphoserine; by ATM1 Publication

    Post-translational modificationi

    Phosphorylation at Ser-308 by AURKA is required for normal cell cycle progression from G2 to mitosis. Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or ATR. Phosphorylation at Ser-988 by CHEK2 regulates mitotic spindle assembly.12 Publications
    Autoubiquitinated, undergoes 'Lys-6'-linked polyubiquitination. 'Lys-6'-linked polyubiquitination does not promote degradation.2 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiP38398.
    PaxDbiP38398.
    PRIDEiP38398.

    PTM databases

    PhosphoSiteiP38398.

    Miscellaneous databases

    PMAP-CutDBP38398.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines.

    Gene expression databases

    ArrayExpressiP38398.
    BgeeiP38398.
    CleanExiHS_BRCA1.
    GenevestigatoriP38398.

    Organism-specific databases

    HPAiCAB001946.
    CAB018369.
    HPA034966.

    Interactioni

    Subunit structurei

    Heterodimer with BARD1. 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. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1, BRCC3, BRE and BABAM1. Interacts (via the BRCT domains) with FAM175A. Component of the BRCA1-RBBP8 complex. 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. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A, COBRA1, DCLRE1C, CLSPN. CHEK1, CHEK2, BAP1, BRCC3, AURKA, UBXN1 and KIAA0101/PAF15. Interacts (via BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2 (ubiquitinated form). Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts (via the BRCT domains) with ACACA (phosphorylated form); the interaction prevents dephosphorylation of ACACA. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts directly with PALB2; the interaction is essential for its function in HRR. Interacts directly with BRCA2; the interaction occurs only in the presence of PALB2 which serves as the bridging protein. Interacts (via the BRCT domains) with LMO4; the interaction represses the transcriptional activity of BRCA1.35 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACACAQ130852EBI-349905,EBI-717681
    BAP1Q925603EBI-349905,EBI-1791447
    BARD1Q997289EBI-349905,EBI-473181
    BCL2P104156EBI-349905,EBI-77694
    BRAPQ7Z5693EBI-349905,EBI-349900
    BRIP1Q9BX6312EBI-349905,EBI-3509650
    CCND1P243853EBI-349905,EBI-375001
    CCNE1P248642EBI-349905,EBI-519526
    CHEK1O147573EBI-349905,EBI-974488
    ESR1P0337212EBI-349905,EBI-78473
    Ezh2Q611885EBI-349905,EBI-904311From a different organism.
    FAM175AQ6UWZ710EBI-349905,EBI-1263451
    FHL2Q141926EBI-349905,EBI-701903
    GTF2IP783475EBI-349905,EBI-359622
    H2AFXP161044EBI-349905,EBI-494830
    HSPD1P108092EBI-349905,EBI-352528
    IFI16Q166669EBI-349905,EBI-2867186
    KPNA2P522923EBI-349905,EBI-349938
    NELFBQ8WX925EBI-349905,EBI-347721
    PPP1CAP621362EBI-349905,EBI-357253
    PPP1CBP621403EBI-349905,EBI-352350
    PPP1CCP368732EBI-349905,EBI-356283
    RBBP8Q997089EBI-349905,EBI-745715
    TRRAPQ9Y4A58EBI-349905,EBI-399128
    UIMC1Q96RL19EBI-349905,EBI-725300
    ZCCHC8Q6NZY42EBI-349905,EBI-1263058
    ZNF350Q9GZX53EBI-349905,EBI-396421

    Protein-protein interaction databases

    BioGridi107140. 411 interactions.
    DIPiDIP-5971N.
    IntActiP38398. 72 interactions.
    MINTiMINT-90433.
    STRINGi9606.ENSP00000350283.

    Structurei

    Secondary structure

    1
    1863
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi3 – 53
    Helixi8 – 2114
    Beta strandi25 – 273
    Helixi46 – 538
    Beta strandi54 – 585
    Turni62 – 643
    Turni70 – 723
    Beta strandi78 – 803
    Helixi81 – 9616
    Beta strandi1651 – 16566
    Helixi1659 – 167113
    Beta strandi1675 – 16795
    Beta strandi1686 – 16894
    Beta strandi1695 – 16973
    Helixi1701 – 17088
    Beta strandi1712 – 17154
    Helixi1717 – 17259
    Helixi1731 – 17344
    Turni1740 – 17423
    Beta strandi1743 – 17453
    Helixi1748 – 17547
    Turni1755 – 17573
    Turni1760 – 17634
    Beta strandi1765 – 17684
    Beta strandi1770 – 17723
    Beta strandi1773 – 17753
    Helixi1777 – 178610
    Beta strandi1790 – 17945
    Helixi1795 – 17973
    Beta strandi1801 – 18033
    Beta strandi1806 – 18105
    Helixi1812 – 18143
    Beta strandi1817 – 18193
    Helixi1820 – 18223
    Helixi1824 – 18274
    Beta strandi1828 – 18303
    Beta strandi1832 – 18343
    Helixi1835 – 184410
    Helixi1851 – 18533

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1JM7NMR-A1-110[»]
    1JNXX-ray2.50X1646-1859[»]
    1N5OX-ray2.80X1646-1859[»]
    1OQANMR-A1755-1863[»]
    1T15X-ray1.85A1646-1859[»]
    1T29X-ray2.30A1646-1859[»]
    1T2UX-ray2.80A1646-1859[»]
    1T2VX-ray3.30A/B/C/D/E1646-1859[»]
    1Y98X-ray2.50A1646-1859[»]
    2INGX-ray3.60X1649-1859[»]
    3COJX-ray3.21A/B/C/D/E/F/G/X1646-1859[»]
    3K0HX-ray2.70A1646-1859[»]
    3K0KX-ray2.70A1646-1859[»]
    3K15X-ray2.80A1646-1859[»]
    3K16X-ray3.00A1646-1859[»]
    3PXAX-ray2.55A1646-1859[»]
    3PXBX-ray2.50A1646-1859[»]
    3PXCX-ray2.80X1646-1859[»]
    3PXDX-ray2.80A1646-1859[»]
    3PXEX-ray2.85A/B/C/D1646-1859[»]
    4IFIX-ray2.20A1646-1859[»]
    4IGKX-ray1.75A/B1646-1859[»]
    DisProtiDP00238.
    ProteinModelPortaliP38398.
    SMRiP38398. Positions 1-103, 1649-1859.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP38398.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1642 – 173695BRCT 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1756 – 1855100BRCT 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1397 – 142428Interaction with PALB2Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi651 – 6544Poly-Lys

    Domaini

    The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites.1 Publication
    The RING-type zinc finger domain interacts with BAP1.1 Publication

    Sequence similaritiesi

    Contains 2 BRCT domains.PROSITE-ProRule annotation
    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri24 – 6542RING-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG274496.
    HOGENOMiHOG000230969.
    HOVERGENiHBG050730.
    InParanoidiP38398.
    KOiK10605.
    OrthoDBiEOG79CXXK.
    PhylomeDBiP38398.

    Family and domain databases

    Gene3Di3.30.40.10. 1 hit.
    3.40.50.10190. 2 hits.
    InterProiIPR011364. BRCA1.
    IPR025994. BRCA1_serine_dom.
    IPR001357. BRCT_dom.
    IPR018957. Znf_C3HC4_RING-type.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    IPR017907. Znf_RING_CS.
    [Graphical view]
    PANTHERiPTHR13763. PTHR13763. 1 hit.
    PfamiPF00533. BRCT. 2 hits.
    PF12820. BRCT_assoc. 1 hit.
    PF00097. zf-C3HC4. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001734. BRCA1. 1 hit.
    PRINTSiPR00493. BRSTCANCERI.
    SMARTiSM00292. BRCT. 2 hits.
    SM00184. RING. 1 hit.
    [Graphical view]
    SUPFAMiSSF52113. SSF52113. 2 hits.
    PROSITEiPS50172. BRCT. 2 hits.
    PS00518. ZF_RING_1. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing and alternative initiation. Align

    Isoform 1 (identifier: P38398-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK     50
    LLNQKKGPSQ CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE 100
    YANSYNFAKK ENNSPEHLKD EVSIIQSMGY RNRAKRLLQS EPENPSLQET 150
    SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI ELGSDSSEDT VNKATYCSVG 200
    DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ PSNNDLNTTE 250
    KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE 300
    KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER 350
    KEWNKQKLPC SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD 400
    GESESNAKVA DVLDVLNEVD EYSGSSEKID LLASDPHEAL ICKSERVHSK 450
    SVESNIEDKI FGKTYRKKAS LPNLSHVTEN LIIGAFVTEP QIIQERPLTN 500
    KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE QNGQVMNITN 550
    SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI 600
    HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI 650
    KKKKYNQMPV RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL 700
    KLTNAPGSFT KCSNTSELKE FVNPSLPREE KEEKLETVKV SNNAEDPKDL 750
    MLSGERVLQT ERSVESSSIS LVPGTDYGTQ ESISLLEVST LGKAKTEPNK 800
    CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS RETSIEMEES 850
    ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT 900
    FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS 950
    RFCLSSQFRG NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE 1000
    ENFEEHSMSP EREMGNENIP STVSTISRNN IRENVFKEAS SSNINEVGSS 1050
    TNEVGSSINE IGSSDENIQA ELGRNRGPKL NAMLRLGVLQ PEVYKQSLPG 1100
    SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS HASQVCSETP 1150
    DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ 1200
    GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE 1250
    CLSKNTEENL LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC 1300
    SELEDLTANT NTQDPFLIGS SKQMRHQSES QGVGLSDKEL VSDDEERGTG 1350
    LEENNQEEQS MDSNLGEAAS GCESETSVSE DCSGLSSQSD ILTTQQRDTM 1400
    QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE DLRNPEQSTS 1450
    EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK 1500
    CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET 1550
    SYLPRQDLEG TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL 1600
    KVPQLKVAES AQSPAAAHTT DTAGYNAMEE SVSREKPELT ASTERVNKRM 1650
    SMVVSGLTPE EFMLVYKFAR KHHITLTNLI TEETTHVVMK TDAEFVCERT 1700
    LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV VNGRNHQGPK 1750
    RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL 1800
    GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL 1850
    DTYLIPQIPH SHY 1863
    Length:1,863
    Mass (Da):207,721
    Last modified:February 1, 1995 - v2
    Checksum:i89C6D83FF56312AF
    GO
    Isoform 2 (identifier: P38398-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         64-1863: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:63
    Mass (Da):7,177
    Checksum:iF488196D90AE5BAE
    GO
    Isoform 3 (identifier: P38398-3) [UniParc]FASTAAdd to Basket

    Also known as: Delta11b

    The sequence of this isoform differs from the canonical sequence as follows:
         264-1366: Missing.
         1453-1453: Missing.

    Show »
    Length:759
    Mass (Da):85,001
    Checksum:i29C7B9FF1660BD5C
    GO
    Isoform 4 (identifier: P38398-4) [UniParc]FASTAAdd to Basket

    Also known as: DeltaBRCA1(17aa)

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: Missing.

    Note: Produced by alternative initiation at Met-18 of isoform 1.

    Show »
    Length:1,846
    Mass (Da):205,838
    Checksum:i3C16437DF10FA4D1
    GO
    Isoform 5 (identifier: P38398-5) [UniParc]FASTAAdd to Basket

    Also known as: Delta11, Delta772-3095

    The sequence of this isoform differs from the canonical sequence as follows:
         224-1365: Missing.

    Show »
    Length:721
    Mass (Da):80,590
    Checksum:iA4EED8A734FCB619
    GO
    Isoform 6 (identifier: P38398-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         264-1366: Missing.
         1453-1453: Missing.
         1778-1863: DQLEWMVQLC...LIPQIPHSHY → GCPPNCGCAARCLDRGQWLPCNWADV

    Note: No experimental confirmation available.

    Show »
    Length:699
    Mass (Da):78,165
    Checksum:i67C7F5031F0ED6F3
    GO
    Isoform 7 (identifier: P38398-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1453-1453: A → DSHIHGQRNNSMFSKRPREHIS

    Note: No experimental confirmation available.Curated

    Show »
    Length:1,884
    Mass (Da):210,266
    Checksum:i30A3ED3C44B3700B
    GO

    Sequence cautioni

    The sequence AAI15038.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI15038.1 differs from that shown. Reason: Erroneous termination at position 526. Translated as Gln.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti89 – 891I → T in AAB61673. 1 PublicationCurated
    Sequence conflicti148 – 1481Missing in AAB61673. 1 PublicationCurated
    Sequence conflicti253 – 2531A → V in AAC00049. (PubMed:9010228)Curated
    Sequence conflicti713 – 7131S → P in AAI15038. (PubMed:15489334)Curated
    Sequence conflicti1077 – 10771G → R in AAB61673. 1 PublicationCurated
    Sequence conflicti1426 – 14261S → P in AAC00049. (PubMed:9010228)Curated
    Sequence conflicti1527 – 15271E → G in AAI15038. (PubMed:15489334)Curated
    Isoform 7 (identifier: P38398-7)
    Sequence conflicti1461 – 14611N → D in AAI15038. (PubMed:15489334)Curated

    Polymorphismi

    There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms may be associated with an increased risk for developing ovarian cancer.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41S → F in BC; unknown pathological significance.
    VAR_070458
    Natural varianti10 – 101E → K in BC and BROVCA1. 1 Publication
    VAR_020679
    Natural varianti11 – 111V → A Unclassified.
    VAR_007754
    Natural varianti18 – 181M → T in BC; unknown pathological significance. 1 Publication
    VAR_063899
    Natural varianti21 – 211I → V Unclassified.
    VAR_007755
    Natural varianti22 – 221L → S in BC. 1 Publication
    VAR_007756
    Natural varianti23 – 231E → K in BC and BROVCA1. 1 Publication
    VAR_020680
    Natural varianti30 – 301L → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035947
    Natural varianti45 – 451K → Q in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070459
    Natural varianti61 – 611C → G in BC and ovarian cancer; no interaction with BAP1. 6 Publications
    Corresponds to variant rs28897672 [ dbSNP | Ensembl ].
    VAR_007757
    Natural varianti64 – 641C → G in BC; no interaction with BAP1. 3 Publications
    VAR_007758
    Natural varianti64 – 641C → Y Unclassified.
    Corresponds to variant rs55851803 [ dbSNP | Ensembl ].
    VAR_007759
    Natural varianti67 – 671D → Y in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070460
    Natural varianti71 – 711R → K in BC; unknown pathological significance. 1 Publication
    VAR_020681
    Natural varianti105 – 1051Y → C.1 Publication
    VAR_070461
    Natural varianti132 – 1321N → K in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070462
    Natural varianti142 – 1421P → H in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070463
    Natural varianti147 – 1471L → F in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070464
    Natural varianti153 – 1531S → R.
    Corresponds to variant rs28897674 [ dbSNP | Ensembl ].
    VAR_052077
    Natural varianti165 – 1651L → P in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070465
    Natural varianti170 – 1701R → W in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070466
    Natural varianti186 – 1861S → Y in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070467
    Natural varianti191 – 1911V → I in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070468
    Natural varianti227 – 2271E → K in ovarian cancer; unknown pathological significance.
    VAR_008759
    Natural varianti231 – 2311T → M in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070469
    Natural varianti239 – 2391H → R.2 Publications
    VAR_007760
    Natural varianti245 – 2451D → V in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070470
    Natural varianti246 – 2461L → V in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070471
    Natural varianti271 – 2711V → L in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070472
    Natural varianti271 – 2711V → M in BC. 1 Publication
    Corresponds to variant rs80357244 [ dbSNP | Ensembl ].
    VAR_007761
    Natural varianti275 – 2751G → S.1 Publication
    Corresponds to variant rs8176153 [ dbSNP | Ensembl ].
    VAR_019944
    Natural varianti346 – 3461P → S in BC; unknown pathological significance. 1 Publication
    VAR_008760
    Natural varianti356 – 3561Q → R Common polymorphism. 3 Publications
    Corresponds to variant rs1799950 [ dbSNP | Ensembl ].
    VAR_007762
    Natural varianti369 – 3691Missing in BC.
    VAR_007763
    Natural varianti379 – 3791I → M Unclassified.
    Corresponds to variant rs56128296 [ dbSNP | Ensembl ].
    VAR_007764
    Natural varianti461 – 4611F → L in BC. 1 Publication
    Corresponds to variant rs56046357 [ dbSNP | Ensembl ].
    VAR_007765
    Natural varianti465 – 4651Y → D in BC. 1 Publication
    VAR_007766
    Natural varianti507 – 5071R → I Unclassified.
    VAR_007767
    Natural varianti552 – 5521G → V in BC. 1 Publication
    VAR_007768
    Natural varianti656 – 6561N → I.1 Publication
    VAR_020682
    Natural varianti668 – 6681L → F in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070473
    Natural varianti693 – 6931D → N Rare polymorphism. 2 Publications
    Corresponds to variant rs4986850 [ dbSNP | Ensembl ].
    VAR_007769
    Natural varianti695 – 6951D → N in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070474
    Natural varianti723 – 7231N → D.
    Corresponds to variant rs4986845 [ dbSNP | Ensembl ].
    VAR_020110
    Natural varianti749 – 7491D → Y in BC. 1 Publication
    VAR_020683
    Natural varianti758 – 7581L → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035948
    Natural varianti772 – 7721V → A Rare polymorphism. 2 Publications
    VAR_007770
    Natural varianti778 – 7781G → C in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035949
    Natural varianti798 – 7981P → L in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070475
    Natural varianti810 – 8101N → Y in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070476
    Natural varianti820 – 8201K → E Rare polymorphism. 1 Publication
    Corresponds to variant rs56082113 [ dbSNP | Ensembl ].
    VAR_007771
    Natural varianti826 – 8261T → K in BC; unknown pathological significance; functionally neutral in vitro.
    Corresponds to variant rs28897683 [ dbSNP | Ensembl ].
    VAR_007772
    Natural varianti835 – 8351H → Y in BROVCA1; unknown pathological significance. 1 Publication
    VAR_020684
    Natural varianti841 – 8411R → Q in BC; unknown pathological significance; functionally neutral in vitro.
    VAR_070477
    Natural varianti841 – 8411R → W in BROVCA1; unknown pathological significance. 2 Publications
    Corresponds to variant rs1800709 [ dbSNP | Ensembl ].
    VAR_007773
    Natural varianti856 – 8561Y → H in a patient with sporadic breast cancer; unknown pathological significance. 1 Publication