Description: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 6, non-coding RNA. RefSeq Summary (NR_027676): 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 chr17:41,196,312-41,277,340 Size: 81,029 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr17:41,197,695-41,277,202 Size: 79,508 Coding Exon Count: 8
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 C6YB45
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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. 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. 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. BC030969 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:4804551), partial cds. 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. 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. MN577637 - UNVERIFIED: Homo sapiens mRNA sequence.
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