Human Gene BRCA1 (uc002ict.3) Description and Page Index
  Description: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 2, mRNA.
RefSeq Summary (NM_007300): This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. 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 2009].
Transcript (Including UTRs)
   Position: hg19 chr17:41,196,312-41,277,500 Size: 81,189 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg19 chr17:41,197,695-41,276,113 Size: 78,419 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:41,196,312-41,277,500)mRNA (may differ from genome)Protein (1884 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCHPRDLynxMGIOMIMPubMed
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: J3KQF3_HUMAN
DESCRIPTION: SubName: Full=Breast cancer type 1 susceptibility protein;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BRCA1
CDC HuGE Published Literature: BRCA1
Positive Disease Associations: breast cancer , breast cancer, male , breast cancer; ovarian cancer , endometrial carcinoma , germline BRCA1 mutation , ovarian cancer , tumor progression
Related Studies:
  1. 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..
  2. 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.
  3. 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.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: BRCA1
Diseases sorted by gene-association score: breast-ovarian cancer, familial, 1* (1280), pancreatic cancer 4* (969), hereditary breast ovarian cancer* (777), brca1 hereditary breast and ovarian cancer syndrome* (500), punctate porokeratosis* (400), ovarian cancer, somatic* (337), rhabdomyosarcoma* (283), breast cancer* (240), tumor predisposition syndrome* (200), pancreatic cancer* (181), bap1 tumor predisposition syndrome* (179), fanconi anemia, complementation group a* (142), brca2 hereditary breast and ovarian cancer syndrome* (121), pancreatic cancer susceptibility 4* (100), fallopian tube carcinoma (49), primary peritoneal carcinoma* (43), sporadic breast cancer (38), bilateral breast cancer (37), ovarian cystadenoma (25), premature menopause (25), female reproductive organ cancer (20), hereditary site-specific ovarian cancer syndrome* (18), breast reconstruction (18), breast carcinoma in situ (17), li-fraumeni syndrome (15), peritoneum cancer (13), nijmegen breakage syndrome (13), mutagen sensitivity (13), riddle syndrome (13), radiation induced cancer (13), ovary epithelial cancer (12), malignant ovarian surface epithelial-stromal neoplasm (12), reproductive organ cancer (11), lynch syndrome (11), nosophobia (11), cancerophobia (11), fallopian tube adenocarcinoma (10), prostate cancer* (9), ataxia-telangiectasia (9), ductal carcinoma in situ (9), uterine corpus serous adenocarcinoma (9), tuberculous salpingitis (8), breast ductal carcinoma (7), papillary serous adenocarcinoma (7), colorectal cancer, hereditary nonpolyposis, type 1 (7), endometrial cancer (7), breast medullary carcinoma (7), synchronous bilateral breast carcinoma (7), hypertrophy of breast (6), cowden disease (6), canavan disease (6), glycogen-rich clear cell breast carcinoma (5), dysgerminoma of ovary (5), pre-malignant neoplasm (5), adamantinoma of long bones (5), uterine corpus cancer (5), clear cell adenofibroma (4), in situ carcinoma (4), triple-receptor negative breast cancer (4), cystadenofibroma (4), warsaw breakage syndrome (4), miles-carpenter syndrome (3), colorectal cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.31 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 51.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.70232-0.361 Picture PostScript Text
3' UTR -427.221383-0.309 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011364 - BRCA1
IPR025994 - BRCA1_serine_dom
IPR001357 - BRCT_dom
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF00533 - BRCA1 C Terminus (BRCT) domain
PF12820 - Serine-rich domain associated with BRCT
PF13445 - RING-type zinc-finger
PF13639 - Ring finger domain
PF13920 - Zinc finger, C3HC4 type (RING finger)
PF13923 - Zinc finger, C3HC4 type (RING finger)
PF15227 - zinc finger of C3HC4-type, RING

SCOP Domains:
52113 - BRCT domain
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on J3KQF3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  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.

-  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

-  Other Names for This Gene
  Alternate Gene Symbols: J3KQF3, J3KQF3_HUMAN, NM_007300, NP_009231
UCSC ID: uc002ict.3
RefSeq Accession: NM_007300
Protein: J3KQF3 CCDS: CCDS11453.1, CCDS11456.2, CCDS11459.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BRCA1:
brca1 (BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_007300.3
exon count: 24CDS single in 3' UTR: no RNA size: 7287
ORF size: 5655CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 11507.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.