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

Protein SuperFamily: transcriptional regulator, BRCA1 type
Gene Tree: Brca1

Human homologs

Human Homolog		BRCA1, breast cancer 1, early onset
NCBI Gene ID		672
neXtProt AC		NX_P38398
Human Synonyms		BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53
Human Chr (Location)		17q21; chr17:41196312-41277500 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human BRCA1

Alleles and phenotypes

All alleles(85) : Targeted(19) Gene trapped(66)
 

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 Using Mouse Brca1 (2)    Alleles Annotated to Human Diseases(7)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (79 annotations)

Process	cell cycle, cellular response to indole-3-methanol, ...
Component	BRCA1-A complex, BRCA1-BARD1 complex, ...
Function	damaged DNA binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (35 records)
Data Summary: Results (412)    Tissues (210)    Images (40)
Theiler Stages: 10, 13, 15, 17, 18, 21, 22, 23, 25, 28

Assay Type	Results
RNA in situ	287
Northern blot	28
Western blot	3
RT-PCR	94

cDNA source data(136)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(158) Genomic(16) cDNA(137) Primer pair(4) 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	TC1577432, TC1625383, TC1693006
DoTS	DT.101407283, DT.529940, DT.97414487
NIA Mouse Gene Index	U033456
EC	6.3.2.-
Consensus CDS Project	CCDS25474.1
International Mouse Knockout Project Status	Brca1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000002870	VEGA Gene Model | MGI Sequence Detail	63192	C57BL/6J
transcript	OTTMUST00000005869	VEGA | MGI Sequence Detail	6572	Not Applicable
polypeptide	OTTMUSP00000002773	VEGA | MGI Sequence Detail	1812	Not Applicable

All sequences(41) RefSeq(2) UniProt(5)

Polymorphisms

All PCR and RFLP(4) : PCR(1) RFLP(3) SNPs(226 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR025994	BRCA1, serine-rich domain
InterPro	IPR001357	BRCT domain
InterPro	IPR011364	Breast cancer type 1 susceptibility protein (BRCA1)
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:194529 Titus S, et al., Impairment of BRCA1-related DNA double-strand break repair leads to ovarian aging in mice and humans. Sci Transl Med. 2013 Feb 13;5(172):172ra21
All references(222)

Other accession IDs

MGD-MRK-25968