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Brca1
Gene Detail
Symbol

Name
ID
Brca1
breast cancer 1
MGI:104537
Feature Type
protein coding gene
Genetic Map
Chromosome 11
65.18 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(25)
Sequence Map
Chr11:101488764-101551955 bp, - strand
From VEGA annotation of GRCm38

  63192 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:5276  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

HCOP human homology predictions: BRCA1
Protein SuperFamily: transcriptional regulator, BRCA1 type
Gene Tree: Brca1

Human
homologs
BRCA1, breast cancer 1, early onset
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 672
neXtProt AC: NX_P38398

Human Synonyms: BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53

Human Chr (Location): 17q21; chr17:43044295-43125483 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human BRCA1

Mutations,
alleles, and
phenotypes
All mutations/alleles(89) : Gene trapped(66) Targeted(23)
Genomic Mutations involving Brca1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence.
 
Human Diseases Modeled in Mice Using Brca1 (1)    Mutations Annotated to Human Diseases (8)    Phenotype Images(2)
Interactions
Brca1 interacts with 236 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (38 records)
Data Summary: Results (418)    Tissues (216)    Images (41)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 287
Northern blot 28
Western blot 3
RT-PCR 100
cDNA source data(136)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA BRCA1 ; Xenbase brca1    NEW 
Molecular
reagents
All nucleic(159) Genomic(16) cDNA(137) Primer pair(5) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000002870 (Evidence)
Ensembl Gene Model ENSMUSG00000017146 (Evidence)
Entrez Gene 12189 (Evidence)
UniGene 244975
DFCI TC1693006, TC1625383, TC1577432
DoTS DT.101407283, DT.97414487, DT.529940
NIA Mouse Gene Index U033456
EC 6.3.2.-
Consensus CDS Project CCDS25474.1
International Mouse Phenotyping Consortium Status Brca1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002870 VEGA Gene Model | MGI Sequence Detail 63192 C57BL/6J ±  kb
transcript OTTMUST00000005869 VEGA | MGI Sequence Detail 6572 Not Applicable 
polypeptide OTTMUSP00000002773 VEGA | MGI Sequence Detail 1812 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(7) UniProt(8)
Polymorphisms
All PCR and RFLP(4) : PCR(1) RFLP(3) SNPs within 2kb(280 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR025994 BRCA1, serine-rich domain
InterPro IPR001357 BRCT domain
InterPro IPR011364 Breast cancer type 1 susceptibility protein (BRCA1)
InterPro IPR018957 Zinc finger, C3HC4 RING-type
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
InterPro IPR017907 Zinc finger, RING-type, conserved site
Protein Ontology PR:000004803 breast cancer type 1 susceptibility protein
References
(Earliest) J:31493 Hall JM, et al., Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990 Dec 21;250(4988):1684-9
(Latest) J:218138 Munoz MC, et al., An RNF168 fragment defective for focal accumulation at DNA damage is proficient for inhibition of homologous recombination in BRCA1 deficient cells. Nucleic Acids Res. 2014 Jul;42(12):7720-33
All references(247)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-25968

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory