Description: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. RefSeq Summary (NM_007294): This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]. Transcript (Including UTRs) Position: hg19 chr17:41,243,117-41,276,132 Size: 33,016 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr17:41,243,348-41,276,113 Size: 32,766 Coding Exon Count: 9
breast cancer Bau, D. T. et al. 2004, Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1., Cancer research. 2004 Jul;64(14):5013-9.
[PubMed 15256476]
Because BRCA1 is a well-documented breast cancer susceptibility gene, this association between NHEJ and BRCA1 not only suggests a role of BRCA1 in NHEJ but also provides essential support for the tumorigenic contribution of NHEJ in breast cancer development..
breast cancer Robson, M. E. et al. 2004, A combined analysis of outcome following breast cancer: differences in survival based onBRCA1/BRCA2 mutation status and administration of adjuvant treatment., Breast cancer research. 2004 ;6(1):R8-R17.
[PubMed 14680495]
BRCA1 mutations, but not BRCA2 mutations, are associated with reduced survival in Ashkenazi women undergoing breast-conserving treatment for invasive breast cancer, but the poor prognosis associated with germline BRCA1 mutations is mitigated by adjuvant chemotherapy. The risk for metachronous ipsilateral disease does not appear to be increased for either BRCA1 or BRCA2 mutation carriers, at least up to 10 years of follow up.
breast cancer Zhou, Y. Z. et al. 2004, [Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people], Zhonghua yi xue za zhi. 2004 Feb;84(4):294-8.
[PubMed 15059511]
Two pathogenic SNPs have been found in BRCA1 and may be related to early-onset breast cancer. One of them may be a novel mutation characterized of familial breast cancer in China.
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 Q5YLB2
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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.
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. BC072418 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:6181860), complete cds. BC115037 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone MGC:131629 IMAGE:7961446), complete 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. 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. AK316200 - Homo sapiens cDNA, FLJ79099 partial cds, highly similar to Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant BRCA1-delta 11b, mRNA. CU687226 - Synthetic construct Homo sapiens gateway clone IMAGE:100022959 5' read BRCA1 mRNA. 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. MA620383 - JP 2018138019-A/192309: 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
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04120 - Ubiquitin mediated proteolysis
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