Human Gene BRCA1 (uc010whq.1)
  Description: Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 3, mRNA.
RefSeq Summary (NM_007299): 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 chr17:41,215,350-41,256,973 Size: 41,624 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr17:41,215,350-41,256,198 Size: 40,849 Coding Exon Count: 11 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:41,215,350-41,256,973)mRNA (may differ from genome)Protein (460 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCLynxMalacardsMGIOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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 -35.40169-0.209 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
  Pfam Domains:
PF00533 - BRCA1 C Terminus (BRCT) domain

SCOP Domains:
52113 - BRCT domain

ModBase Predicted Comparative 3D Structure on P38398-3
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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.
BC072418 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone IMAGE:6181860), complete cds.
U68041 - Human breast and ovarian cancer susceptibility protein (BRCA1) mRNA, partial cds.
DQ333386 - Homo sapiens BRCA1 isoform E1aA-delta2-17 mRNA, complete cds, alternatively spliced.
DQ363751 - Homo sapiens breast and ovarian cancer sususceptibility protein (BRCA1) mRNA, complete cds, alternatively spliced.
BC115037 - Homo sapiens breast cancer 1, early onset, mRNA (cDNA clone MGC:131629 IMAGE:7961446), complete cds.
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.
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.
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.
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.
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.
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.
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.
MA620383 - JP 2018138019-A/192309: 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.
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

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

-  Other Names for This Gene
  Alternate Gene Symbols: BC046142, NM_007299, NP_009230, P38398-3, RNF53
UCSC ID: uc010whq.1
RefSeq Accession: NM_007299
Protein: P38398-3, splice isoform of P38398

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC046142.1
exon count: 12CDS single in 3' UTR: no RNA size: 1500
ORF size: 1380CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2832.00frame shift in genome: no % Coverage: 99.13
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no 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.