ID:BRCA1_HUMAN DESCRIPTION: RecName: Full=Breast cancer type 1 susceptibility protein; EC=6.3.2.-; AltName: Full=RING finger protein 53; FUNCTION: 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. ENZYME REGULATION: The E3 ubiquitin-protein ligase activity is inhibited by phosphorylation by AURKA. Activity is increased by phosphatase treatment. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: 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 and COBRA1. Interacts (via BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2 (ubiquitinated form). Interacts with BAP1. Interacts with DCLRE1C and CLSPN. Interacts with H2AFX (phosphorylated on 'Ser-140'). Interacts with CHEK1 and CHEK2. Interacts with BRCC3. Interacts (via the BRCT domains) with ACACA (phosphorylated form); the interaction prevents dephosphorylation of ACACA. Interacts with AURKA. Interacts with UBXN1. Part of a trimeric 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. Interacts with KIAA0101/PAF15. INTERACTION: Q13085:ACACA; NbExp=2; IntAct=EBI-349905, EBI-717681; Q92560:BAP1; NbExp=3; IntAct=EBI-349905, EBI-1791447; Q99728:BARD1; NbExp=8; IntAct=EBI-349905, EBI-473181; Q7Z569:BRAP; NbExp=3; IntAct=EBI-349905, EBI-349900; Q9BX63:BRIP1; NbExp=3; IntAct=EBI-349905, EBI-3509650; P24385:CCND1; NbExp=3; IntAct=EBI-349905, EBI-375001; P24864:CCNE1; NbExp=2; IntAct=EBI-349905, EBI-519526; O14757:CHEK1; NbExp=3; IntAct=EBI-349905, EBI-974488; Q8WX92:COBRA1; NbExp=5; IntAct=EBI-349905, EBI-347721; P03372:ESR1; NbExp=12; IntAct=EBI-349905, EBI-78473; Q6UWZ7:FAM175A; NbExp=10; IntAct=EBI-349905, EBI-1263451; P78347:GTF2I; NbExp=5; IntAct=EBI-349905, EBI-359622; P10809:HSPD1; NbExp=2; IntAct=EBI-349905, EBI-352528; Q16666:IFI16; NbExp=9; IntAct=EBI-349905, EBI-2867186; P52292:KPNA2; NbExp=3; IntAct=EBI-349905, EBI-349938; P62136:PPP1CA; NbExp=2; IntAct=EBI-349905, EBI-357253; P62140:PPP1CB; NbExp=3; IntAct=EBI-349905, EBI-352350; P36873:PPP1CC; NbExp=2; IntAct=EBI-349905, EBI-356283; Q99708:RBBP8; NbExp=9; IntAct=EBI-349905, EBI-745715; Q9Y4A5:TRRAP; NbExp=8; IntAct=EBI-349905, EBI-399128; Q96RL1:UIMC1; NbExp=9; IntAct=EBI-349905, EBI-725300; Q6NZY4:ZCCHC8; NbExp=2; IntAct=EBI-349905, EBI-1263058; Q9GZX5:ZNF350; NbExp=3; IntAct=EBI-349905, EBI-396421; SUBCELLULAR LOCATION: Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex. SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. SUBCELLULAR LOCATION: Isoform 5: Cytoplasm. TISSUE SPECIFICITY: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast and ovarian cancer cell lines. DOMAIN: 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. DOMAIN: The RING-type zinc finger domain interacts with BAP1. PTM: 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. PTM: Autoubiquitinated, undergoes 'Lys-6'-linked polyubiquitination. 'Lys-6'-linked polyubiquitination does not promote degradation. POLYMORPHISM: 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. DISEASE: Defects in BRCA1 are a cause of susceptibility to 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. Note=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: Defects in BRCA1 are a cause of susceptibility to familial breast-ovarian cancer type 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. Note=Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast- ovarian cancer. DISEASE: Defects in BRCA1 are a cause of susceptibility to 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. DISEASE: Defects in BRCA1 are a cause of susceptibility to pancreatic cancer type 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. SIMILARITY: Contains 2 BRCT domains. SIMILARITY: Contains 1 RING-type zinc finger. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BRCA1ID163ch17q21.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRCA1"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/brca1/"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=BRCA1"; WEB RESOURCE: Name=Wikipedia; Note=BRCA1 entry; URL="http://en.wikipedia.org/wiki/BRCA1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P38398
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000724 double-strand break repair via homologous recombination GO:0000729 DNA double-strand break processing GO:0006260 DNA replication GO:0006281 DNA repair GO:0006301 postreplication repair GO:0006302 double-strand break repair GO:0006303 double-strand break repair via nonhomologous end joining GO:0006310 DNA recombination GO:0006349 regulation of gene expression by genetic imprinting GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006359 regulation of transcription from RNA polymerase III promoter GO:0006366 transcription from RNA polymerase II promoter GO:0006629 lipid metabolic process GO:0006631 fatty acid metabolic process GO:0006633 fatty acid biosynthetic process GO:0006915 apoptotic process GO:0006974 cellular response to DNA damage stimulus GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0007049 cell cycle GO:0007059 chromosome segregation GO:0007098 centrosome cycle GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage GO:0009048 dosage compensation by inactivation of X chromosome GO:0010212 response to ionizing radiation GO:0010575 positive regulation of vascular endothelial growth factor production GO:0010628 positive regulation of gene expression GO:0016567 protein ubiquitination GO:0016579 protein deubiquitination GO:0030521 androgen receptor signaling pathway GO:0031398 positive regulation of protein ubiquitination GO:0033147 negative regulation of intracellular estrogen receptor signaling pathway GO:0035066 positive regulation of histone acetylation GO:0035067 negative regulation of histone acetylation GO:0042127 regulation of cell proliferation GO:0042981 regulation of apoptotic process GO:0043009 chordate embryonic development GO:0043627 response to estrogen GO:0044030 regulation of DNA methylation GO:0044818 mitotic G2/M transition checkpoint GO:0045717 negative regulation of fatty acid biosynthetic process GO:0045739 positive regulation of DNA repair GO:0045766 positive regulation of angiogenesis GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046600 negative regulation of centriole replication GO:0051571 positive regulation of histone H3-K4 methylation GO:0051572 negative regulation of histone H3-K4 methylation GO:0051573 negative regulation of histone H3-K9 methylation GO:0051574 positive regulation of histone H3-K9 methylation GO:0051865 protein autoubiquitination GO:0070317 negative regulation of G0 to G1 transition GO:0070512 positive regulation of histone H4-K20 methylation GO:0071158 positive regulation of cell cycle arrest GO:0071356 cellular response to tumor necrosis factor GO:0071681 cellular response to indole-3-methanol GO:0072425 signal transduction involved in G2 DNA damage checkpoint GO:0085020 protein K6-linked ubiquitination GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:2000378 negative regulation of reactive oxygen species metabolic process GO:2000617 positive regulation of histone H3-K9 acetylation GO:2000620 positive regulation of histone H4-K16 acetylation
AK293762 - Homo sapiens cDNA FLJ58524 complete cds, highly similar to Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant BRCA1-delta 11b, mRNA. LF384806 - JP 2014500723-A/192309: Polycomb-Associated Non-Coding RNAs. Y08864 - H.sapiens mRNA for breast and ovarian cancer susceptibility protein (BRCA1), 3'UTR. JD503196 - Sequence 484220 from Patent EP1572962. LF327934 - JP 2014500723-A/135437: Polycomb-Associated Non-Coding RNAs. MS839225 - Sequence 338 from Patent WO2017013436. JD372542 - Sequence 353566 from Patent EP1572962. JD093954 - Sequence 74978 from Patent EP1572962. JD349851 - Sequence 330875 from Patent EP1572962. BC072418 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:6181860), complete cds. JD518021 - Sequence 499045 from Patent EP1572962. JD366726 - Sequence 347750 from Patent EP1572962. JD474101 - Sequence 455125 from Patent EP1572962. JD141995 - Sequence 123019 from Patent EP1572962. JD318791 - Sequence 299815 from Patent EP1572962. JD239477 - Sequence 220501 from Patent EP1572962. JD083661 - Sequence 64685 from Patent EP1572962. JD110198 - Sequence 91222 from Patent EP1572962. JD516185 - Sequence 497209 from Patent EP1572962. JD084878 - Sequence 65902 from Patent EP1572962. JD182820 - Sequence 163844 from Patent EP1572962. JD331968 - Sequence 312992 from Patent EP1572962. JD308815 - Sequence 289839 from Patent EP1572962. JD096357 - Sequence 77381 from Patent EP1572962. JD334170 - Sequence 315194 from Patent EP1572962. U68041 - Human breast and ovarian cancer susceptibility protein (BRCA1) mRNA, partial cds. JD177455 - Sequence 158479 from Patent EP1572962. JD162926 - Sequence 143950 from Patent EP1572962. JD063051 - Sequence 44075 from Patent EP1572962. JD515572 - Sequence 496596 from Patent EP1572962. JD047611 - Sequence 28635 from Patent EP1572962. JD135794 - Sequence 116818 from Patent EP1572962. JD222496 - Sequence 203520 from Patent EP1572962. JD112498 - Sequence 93522 from Patent EP1572962. JD396242 - Sequence 377266 from Patent EP1572962. JD083487 - Sequence 64511 from Patent EP1572962. JD313313 - Sequence 294337 from Patent EP1572962. JD411991 - Sequence 393015 from Patent EP1572962. JD258470 - Sequence 239494 from Patent EP1572962. JD417717 - Sequence 398741 from Patent EP1572962. JD340802 - Sequence 321826 from Patent EP1572962. JD340800 - Sequence 321824 from Patent EP1572962. JD340801 - Sequence 321825 from Patent EP1572962. JD056839 - Sequence 37863 from Patent EP1572962. JD541064 - Sequence 522088 from Patent EP1572962. JD446374 - Sequence 427398 from Patent EP1572962. JD344152 - Sequence 325176 from Patent EP1572962. JD347091 - Sequence 328115 from Patent EP1572962. JD519965 - Sequence 500989 from Patent EP1572962. DQ333386 - Homo sapiens BRCA1 isoform E1aA-delta2-17 mRNA, complete cds, alternatively spliced. DQ333387 - Homo sapiens BRCA1 isoform PI21-delta2-21 mRNA, complete cds, alternatively spliced. DQ363751 - Homo sapiens breast and ovarian cancer sususceptibility protein (BRCA1) mRNA, complete cds, alternatively spliced. JD320588 - Sequence 301612 from Patent EP1572962. JD123048 - Sequence 104072 from Patent EP1572962. BC115037 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone MGC:131629 IMAGE:7961446), complete cds. JD104066 - Sequence 85090 from Patent EP1572962. JD187021 - Sequence 168045 from Patent EP1572962. JD156151 - Sequence 137175 from Patent EP1572962. LF327935 - JP 2014500723-A/135438: Polycomb-Associated Non-Coding RNAs. JD156150 - Sequence 137174 from Patent EP1572962. JD156149 - Sequence 137173 from Patent EP1572962. KP272106 - Homo sapiens isolate TWH94001 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, partial cds. JN686490 - Homo sapiens breast and ovarian cancer sususceptibility protein 1 (BRCA1) mRNA, complete cds. MG494347 - Homo sapiens isolate TWH-1562-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494348 - Homo sapiens isolate TWH-1326-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494352 - Homo sapiens isolate HKSH-0090-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494353 - Homo sapiens isolate TWH-1519-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494354 - Homo sapiens isolate HKSH-0246-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494355 - Homo sapiens isolate HKSH-0181-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494356 - Homo sapiens isolate QMH-0112-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494357 - Homo sapiens isolate TWH-1558-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494358 - Homo sapiens isolate FP-0148-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494359 - Homo sapiens isolate FP-0163-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494360 - Homo sapiens isolate QMH-0260-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494361 - Homo sapiens isolate OV-0102-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494362 - Homo sapiens isolate TWH-1330-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494363 - Homo sapiens isolate OV-0167-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494364 - Homo sapiens isolate OV-0215-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494365 - Homo sapiens isolate HKSH-0177-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494366 - Homo sapiens isolate OV-0104-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494367 - Homo sapiens isolate FP-0157-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494368 - Homo sapiens isolate HKSH-0229-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494369 - Homo sapiens isolate TWH-0468-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494370 - Homo sapiens isolate OV-0205-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494371 - Homo sapiens isolate OV-0051-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494372 - Homo sapiens isolate TWH-1552-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494373 - Homo sapiens isolate HKSH-0186-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MG494374 - Homo sapiens isolate TWH-1304-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. U64805 - Homo sapiens Brca1-delta11b (Brca1) mRNA, complete cds. AF005068 - Homo sapiens breast and ovarian cancer susceptibility protein splice variant (BRCA1) mRNA, complete cds. U14680 - Homo sapiens breast and ovarian cancer susceptibility (BRCA1) mRNA, complete cds. KJ901305 - Synthetic construct Homo sapiens clone ccsbBroadEn_10699 BRCA1 gene, encodes complete protein. AB385129 - Synthetic construct DNA, clone: pF1KB5593, Homo sapiens BRCA1 gene for breast cancer type 1 susceptibility protein, complete cds, without stop codon, in Flexi system. AY751490 - Homo sapiens breast and ovarian cancer susceptibility protein (BRCA1) mRNA, BRCA1-2201T/2430C/2731T/3232G/3667G/4427C/4956G allele, partial cds. KJ890779 - Synthetic construct Homo sapiens clone ccsbBroadEn_00173 BRCA1 gene, encodes complete protein. KR711442 - Synthetic construct Homo sapiens clone CCSBHm_00023562 BRCA1 (BRCA1) mRNA, encodes complete protein. KR711443 - Synthetic construct Homo sapiens clone CCSBHm_00023622 BRCA1 (BRCA1) mRNA, encodes complete protein. KR711444 - Synthetic construct Homo sapiens clone CCSBHm_00023651 BRCA1 (BRCA1) mRNA, encodes complete protein. KR711445 - Synthetic construct Homo sapiens clone CCSBHm_00023739 BRCA1 (BRCA1) mRNA, encodes complete protein. JD296335 - Sequence 277359 from Patent EP1572962. JD207374 - Sequence 188398 from Patent EP1572962. JD493142 - Sequence 474166 from Patent EP1572962. JD491739 - Sequence 472763 from Patent EP1572962. BC046142 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:4342873). BC085615 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:6042052), partial cds. JD219355 - Sequence 200379 from Patent EP1572962. AK316200 - Homo sapiens cDNA, FLJ79099 partial cds, highly similar to Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant BRCA1-delta 11b, mRNA. JD309089 - Sequence 290113 from Patent EP1572962. JD115212 - Sequence 96236 from Patent EP1572962. JD112514 - Sequence 93538 from Patent EP1572962. LF327944 - JP 2014500723-A/135447: Polycomb-Associated Non-Coding RNAs. JD172059 - Sequence 153083 from Patent EP1572962. JD246064 - Sequence 227088 from Patent EP1572962. JD518245 - Sequence 499269 from Patent EP1572962. JD171702 - Sequence 152726 from Patent EP1572962. JD043015 - Sequence 24039 from Patent EP1572962. JD048236 - Sequence 29260 from Patent EP1572962. JD317755 - Sequence 298779 from Patent EP1572962. JD371924 - Sequence 352948 from Patent EP1572962. JD481969 - Sequence 462993 from Patent EP1572962. JD242409 - Sequence 223433 from Patent EP1572962. JD500632 - Sequence 481656 from Patent EP1572962. LF327945 - JP 2014500723-A/135448: Polycomb-Associated Non-Coding RNAs. JD495624 - Sequence 476648 from Patent EP1572962. HW071579 - JP 2012531210-A/34: Single Nucleotide Polymorphisms in BRCA1 and Cancer Risk. JA031482 - Sequence 34 from Patent WO2010151841. HW071573 - JP 2012531210-A/28: Single Nucleotide Polymorphisms in BRCA1 and Cancer Risk. JA031476 - Sequence 28 from Patent WO2010151841. HW071577 - JP 2012531210-A/32: Single Nucleotide Polymorphisms in BRCA1 and Cancer Risk. JA031480 - Sequence 32 from Patent WO2010151841. JD442627 - Sequence 423651 from Patent EP1572962. CU687226 - Synthetic construct Homo sapiens gateway clone IMAGE:100022959 5' read BRCA1 mRNA. JD313983 - Sequence 295007 from Patent EP1572962. JD464078 - Sequence 445102 from Patent EP1572962. JD146860 - Sequence 127884 from Patent EP1572962. JD330244 - Sequence 311268 from Patent EP1572962. JD326267 - Sequence 307291 from Patent EP1572962. AY354539 - Homo sapiens IRIS mRNA, complete cds; alternatively spliced. JD237913 - Sequence 218937 from Patent EP1572962. LF327948 - JP 2014500723-A/135451: Polycomb-Associated Non-Coding RNAs. JD206910 - Sequence 187934 from Patent EP1572962. JD265370 - Sequence 246394 from Patent EP1572962. JD051714 - Sequence 32738 from Patent EP1572962. JD501478 - Sequence 482502 from Patent EP1572962. JD316026 - Sequence 297050 from Patent EP1572962. JD503583 - Sequence 484607 from Patent EP1572962. JD163241 - Sequence 144265 from Patent EP1572962. JD065381 - Sequence 46405 from Patent EP1572962. JD356932 - Sequence 337956 from Patent EP1572962. LF327949 - JP 2014500723-A/135452: Polycomb-Associated Non-Coding RNAs. JD385566 - Sequence 366590 from Patent EP1572962. JD145872 - Sequence 126896 from Patent EP1572962. JD027256 - Sequence 8280 from Patent EP1572962. JD029574 - Sequence 10598 from Patent EP1572962. JD035135 - Sequence 16159 from Patent EP1572962. LF327950 - JP 2014500723-A/135453: Polycomb-Associated Non-Coding RNAs. LF327951 - JP 2014500723-A/135454: Polycomb-Associated Non-Coding RNAs. JD298883 - Sequence 279907 from Patent EP1572962. JD341679 - Sequence 322703 from Patent EP1572962. JD280793 - Sequence 261817 from Patent EP1572962. JD108217 - Sequence 89241 from Patent EP1572962. JD059860 - Sequence 40884 from Patent EP1572962. JD136008 - Sequence 117032 from Patent EP1572962. LF327952 - JP 2014500723-A/135455: Polycomb-Associated Non-Coding RNAs. JD304881 - Sequence 285905 from Patent EP1572962. JD167978 - Sequence 149002 from Patent EP1572962. AF274503 - Homo sapiens breast and ovarian cancer susceptibility (BRCA1) pseudogene, partial mRNA sequence. LF327953 - JP 2014500723-A/135456: Polycomb-Associated Non-Coding RNAs. JD470216 - Sequence 451240 from Patent EP1572962. JD561200 - Sequence 542224 from Patent EP1572962. JD251766 - Sequence 232790 from Patent EP1572962. LF327954 - JP 2014500723-A/135457: Polycomb-Associated Non-Coding RNAs. LF327955 - JP 2014500723-A/135458: Polycomb-Associated Non-Coding RNAs. LF327956 - JP 2014500723-A/135459: Polycomb-Associated Non-Coding RNAs. JD368626 - Sequence 349650 from Patent EP1572962. LF327957 - JP 2014500723-A/135460: Polycomb-Associated Non-Coding RNAs. BC038947 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:5531286), with apparent retained intron. BC012577 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:3996658), with apparent retained intron. AK308084 - Homo sapiens cDNA, FLJ98032. AK307553 - Homo sapiens cDNA, FLJ97501. LF327958 - JP 2014500723-A/135461: Polycomb-Associated Non-Coding RNAs. BC030969 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:4804551), partial cds. BC062429 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:3686198), partial cds. JD046840 - Sequence 27864 from Patent EP1572962. LF327959 - JP 2014500723-A/135462: Polycomb-Associated Non-Coding RNAs. LF327960 - JP 2014500723-A/135463: Polycomb-Associated Non-Coding RNAs. JD510065 - Sequence 491089 from Patent EP1572962. LF327961 - JP 2014500723-A/135464: Polycomb-Associated Non-Coding RNAs. BC106745 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:40017569), partial cds. BC106746 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:40017570), partial cds. BC114511 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:40017573). BC114562 - Homo sapiens cDNA clone IMAGE:40017575, containing frame-shift errors. JD301794 - Sequence 282818 from Patent EP1572962. JD305315 - Sequence 286339 from Patent EP1572962. JD508057 - Sequence 489081 from Patent EP1572962. JD248187 - Sequence 229211 from Patent EP1572962. JD308635 - Sequence 289659 from Patent EP1572962. JD253709 - Sequence 234733 from Patent EP1572962. JD260125 - Sequence 241149 from Patent EP1572962. MG566107 - Homo sapiens isolate B25 BRCA1 protein (BRCA1) mRNA, partial cds. MG566100 - Homo sapiens isolate B5 BRCA1 protein (BRCA1) mRNA, partial cds. MG566101 - Homo sapiens isolate B6 BRCA1 protein (BRCA1) mRNA, partial cds. MG566102 - Homo sapiens isolate B7 BRCA1 protein (BRCA1) mRNA, partial cds. MG566103 - Homo sapiens isolate B10 BRCA1 protein (BRCA1) mRNA, partial cds. MG566104 - Homo sapiens isolate B11 BRCA1 protein (BRCA1) mRNA, partial cds. MG566105 - Homo sapiens isolate B12 BRCA1 protein (BRCA1) mRNA, partial cds. MG566106 - Homo sapiens isolate B15 BRCA1 protein (BRCA1) mRNA, partial cds. MG566108 - Homo sapiens isolate B36 BRCA1 protein (BRCA1) mRNA, partial cds. MG566109 - Homo sapiens isolate B38 BRCA1 protein (BRCA1) mRNA, partial cds. MG566110 - Homo sapiens isolate B39 BRCA1 protein (BRCA1) mRNA, partial cds. MG566111 - Homo sapiens isolate B40 BRCA1 protein (BRCA1) mRNA, partial cds. MG566112 - Homo sapiens isolate CONTROL1B BRCA1 protein (BRCA1) mRNA, partial cds. MG566113 - Homo sapiens isolate CONTROL2B BRCA1 protein (BRCA1) mRNA, partial cds. MG566114 - Homo sapiens isolate CONTROL3B BRCA1 protein (BRCA1) mRNA, partial cds. MF590175 - Homo sapiens isolate D-patient-3 BRCA1 mRNA, partial cds. MF590181 - Homo sapiens isolate D-patient-9 BRCA1 mRNA, partial cds. MF590182 - Homo sapiens isolate D-patient-10 BRCA1 mRNA, partial cds. MF590180 - Homo sapiens isolate D-patient-8 BRCA1 mRNA, partial cds. MF590178 - Homo sapiens isolate D-patient-6 BRCA1 mRNA, partial cds. MF590177 - Homo sapiens isolate D-patient-5 BRCA1 mRNA, partial cds. MF590179 - Homo sapiens isolate D-patient-7 BRCA1 mRNA, partial cds. MF590174 - Homo sapiens isolate D-patient-2 BRCA1 mRNA, partial cds. MF590176 - Homo sapiens isolate D-patient-4 BRCA1 mRNA, partial cds. MF590173 - Homo sapiens isolate D-patient-1 BRCA1 mRNA, partial cds. JD507916 - Sequence 488940 from Patent EP1572962. JD467795 - Sequence 448819 from Patent EP1572962. JD371750 - Sequence 352774 from Patent EP1572962. JD490690 - Sequence 471714 from Patent EP1572962. KP272105 - Homo sapiens isolate TMH3501 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, partial cds. LF327962 - JP 2014500723-A/135465: Polycomb-Associated Non-Coding RNAs. LF213613 - JP 2014500723-A/21116: Polycomb-Associated Non-Coding RNAs. JD302133 - Sequence 283157 from Patent EP1572962. LF327963 - JP 2014500723-A/135466: Polycomb-Associated Non-Coding RNAs. JD282471 - Sequence 263495 from Patent EP1572962. JD337396 - Sequence 318420 from Patent EP1572962. AB621825 - Homo sapiens BRCA1 mRNA for breast cancer type 1 susceptibility protein, partial cds, clone: HP08575-RBd67C11. MA790387 - JP 2018524990-A/338: Molecular Diagnostic Test for Cancer. MA620383 - JP 2018138019-A/192309: Polycomb-Associated Non-Coding RNAs. MA563511 - JP 2018138019-A/135437: Polycomb-Associated Non-Coding RNAs. MA563512 - JP 2018138019-A/135438: Polycomb-Associated Non-Coding RNAs. MA563521 - JP 2018138019-A/135447: Polycomb-Associated Non-Coding RNAs. MA563522 - JP 2018138019-A/135448: Polycomb-Associated Non-Coding RNAs. MA563525 - JP 2018138019-A/135451: Polycomb-Associated Non-Coding RNAs. MA563526 - JP 2018138019-A/135452: Polycomb-Associated Non-Coding RNAs. MA563527 - JP 2018138019-A/135453: Polycomb-Associated Non-Coding RNAs. MA563528 - JP 2018138019-A/135454: Polycomb-Associated Non-Coding RNAs. MA563529 - JP 2018138019-A/135455: Polycomb-Associated Non-Coding RNAs. MA563530 - JP 2018138019-A/135456: Polycomb-Associated Non-Coding RNAs. MA563531 - JP 2018138019-A/135457: Polycomb-Associated Non-Coding RNAs. MA563532 - JP 2018138019-A/135458: Polycomb-Associated Non-Coding RNAs. MA563533 - JP 2018138019-A/135459: Polycomb-Associated Non-Coding RNAs. MA563534 - JP 2018138019-A/135460: Polycomb-Associated Non-Coding RNAs. MA563535 - JP 2018138019-A/135461: Polycomb-Associated Non-Coding RNAs. MA563536 - JP 2018138019-A/135462: Polycomb-Associated Non-Coding RNAs. MA563537 - JP 2018138019-A/135463: Polycomb-Associated Non-Coding RNAs. MA563538 - JP 2018138019-A/135464: Polycomb-Associated Non-Coding RNAs. MA563539 - JP 2018138019-A/135465: Polycomb-Associated Non-Coding RNAs. MA563540 - JP 2018138019-A/135466: Polycomb-Associated Non-Coding RNAs. MA449190 - JP 2018138019-A/21116: Polycomb-Associated Non-Coding RNAs. MK028700 - Homo sapiens isolate TWH-1917-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MK028699 - Homo sapiens isolate FP-0217-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MN577637 - UNVERIFIED: Homo sapiens mRNA sequence. MK840805 - Homo sapiens isolate FP-0257-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MK840804 - Homo sapiens isolate TWH-2056-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, partial cds. MN264274 - Homo sapiens isolate TWH-2142-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MN264276 - Homo sapiens isolate TWH-2149-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds. MN264275 - Homo sapiens isolate TWH-2148-0-1 truncated breast and ovarian cancer susceptibility protein 1 (BRCA1) mRNA, complete cds.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility h_bard1Pathway - BRCA1-dependent Ub-ligase activity h_g2Pathway - Cell Cycle: G2/M Checkpoint h_carm-erPathway - CARM1 and Regulation of the Estrogen Receptor h_atmPathway - ATM Signaling Pathway
Reactome (by CSHL, EBI, and GO)
Protein P38398 (Reactome details) participates in the following event(s):
R-HSA-912467 BRCA1 is recruited to unsynapsed regions R-HSA-2997616 PIAS1,4 SUMOylates BRCA1 with SUMO2,3 R-HSA-2997709 PIAS1,4 SUMOylates BRCA1 with SUMO1 R-HSA-5659781 BRCA1 forms a heterodimer with BARD1 R-HSA-912450 ATR Kinase is recruited to unsynapsed regions R-HSA-5683385 Formation of BRCA1-A complex at DNA DSBs R-HSA-5684108 BRCA1 binds phosphorylated RBBP8 R-HSA-5684071 RNF4 ubiquitinates MDC1 R-HSA-5686410 BLM mediates dissolution of double Holliday junction R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA R-HSA-5686685 RIF1 and PAX1IP bind TP53BP1 at DNA DSBs R-HSA-5693589 D-loop dissociation and strand annealing R-HSA-912470 ATR phosphorylates Histone H2A.X at unsynapsed regions R-HSA-5693551 Phosphorylation of BRCA1-A complex at multiple sites by ATM R-HSA-5691411 BRCA1-A complex deubiquitinates K63polyUb-histone H2A R-HSA-5683735 CHEK2 is recruited to DNA DSBs R-HSA-5683801 CHEK2 phosphorylates BRCA1 R-HSA-69891 Phosphorylation and activation of CHEK2 by ATM R-HSA-5684052 PIAS4 SUMOylates MDC1 R-HSA-5693608 Initial resection of double-strand break ends R-HSA-5693542 Association of RPA complexes with ssDNA at resected DNA DSBs R-HSA-5685994 Long-range resection of DNA DSBs by EXO1 or DNA2 R-HSA-5685341 BCDX2 complex stabilizes RAD51 filament R-HSA-5693561 RAD51 binds BRCA2 at resected DNA DSBs R-HSA-5685985 EXO1 or DNA2 in complex with BLM or WRN binds initially resected DNA DSBs along with BRIP1 recruitment R-HSA-5684875 Binding of ATR:ATRIP to RPA at resected DNA DSBs R-HSA-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51 R-HSA-5685838 CX3 complex binds D-loop structures R-HSA-5685011 ATR activation at DNA DSBs R-HSA-5684887 Activation of CHEK1 at resected DNA DSBs R-HSA-5684882 CHEK1 is recruited to resected DNA DSBs R-HSA-5693580 Association of RAD52 with the RPA complex at resected DNA DSBs R-HSA-5685156 ATR phosphorylates RPA2 R-HSA-5693593 D-loop extension by DNA polymerases R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2) R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop R-HSA-5693564 Association of RAD51 with RAD52:DNA double-strand break ends R-HSA-6799332 ATR phosphorylates TP53 R-HSA-5686642 RAD52 promotes single strand annealing at resected DNA DSBs R-HSA-1221632 Meiotic synapsis R-HSA-912446 Meiotic recombination R-HSA-3108214 SUMOylation of DNA damage response and repair proteins R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks R-HSA-8953750 Transcriptional Regulation by E2F6 R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes R-HSA-1500620 Meiosis R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins R-HSA-5693606 DNA Double Strand Break Response R-HSA-212436 Generic Transcription Pathway R-HSA-5693607 Processing of DNA double-strand break ends R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-5685938 HDR through Single Strand Annealing (SSA) R-HSA-5693571 Nonhomologous End-Joining (NHEJ) R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-1474165 Reproduction R-HSA-1640170 Cell Cycle R-HSA-2990846 SUMOylation R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-73857 RNA Polymerase II Transcription R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) R-HSA-5693537 Resolution of D-Loop Structures R-HSA-5689901 Metalloprotease DUBs R-HSA-597592 Post-translational protein modification R-HSA-73894 DNA Repair R-HSA-74160 Gene expression (Transcription) R-HSA-69473 G2/M DNA damage checkpoint R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5693538 Homology Directed Repair R-HSA-5685942 HDR through Homologous Recombination (HRR) R-HSA-5688426 Deubiquitination R-HSA-392499 Metabolism of proteins R-HSA-69481 G2/M Checkpoints R-HSA-5693579 Homologous DNA Pairing and Strand Exchange R-HSA-69620 Cell Cycle Checkpoints R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation R-HSA-5633007 Regulation of TP53 Activity
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
