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Brca1 Gene Detail
Summary
  • Symbol
    Brca1
  • Name
    breast cancer 1, early onset
  • Feature Type
    protein coding gene
  • IDs
    MGI:104537
    NCBI Gene: 12189
  • Gene Overview
    MyGene.info: BRCA1
Location & Maps
more
  • Sequence Map
    Chr11:101488764-101551955 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      63192 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 65.18 cM, cytoband D
  • Mapping Data
    25 experiments
Homology
more
  • Human Ortholog
    BRCA1, BRCA1, DNA repair associated
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BRCA1, BRCA1, DNA repair associated
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53
  • Links
    NCBI Gene ID: 672
    neXtProt AC: NX_P38398

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

Human Diseases
more
  • Diseases
    1 with Brca1 mouse models; 3 with human BRCA1 associations

Human Disease Mouse Models
       Breast Cancer   OMIM: 114480 View 11 models
       Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1   OMIM: 604370 View 3 models
Pancreatic Cancer, Susceptibility to, 4; PNCA4   OMIM: 614320
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    120 phenotypes from 21 alleles in 33 genetic backgrounds
    97 phenotypes from multigenic genotypes
    2 images
    134 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    89
  • Gene trapped
    66
  • Targeted
    23
  • Genomic Mutations
    1 involving Brca1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    280 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 159
    Genomic 16
    cDNA 137
    Primer pair 5
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-25968
References
more
  • Summaries
    All 260
    Developmental Gene Expression 40
    Diseases 14
    Gene Ontology 26
    Phenotypes 134
  • 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:231547 Vasanthakumar A, et al., Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice. Blood. 2016 Jan 21;127(3):310-3

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory