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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
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:101488764-101551955 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 65.18 cM, cytoband D
  • Mapping Data
    26 experiments
Strain
Comparison
more
  • SNPs within 2kb
    280 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104537
protein coding gene Chr11:101488761-101551957 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019206
protein coding gene Chr11:104356478-104434159 (-)
A/J MGP_AJ_G0019174
protein coding gene Chr11:99970804-100036474 (-)
AKR/J MGP_AKRJ_G0019143
protein coding gene Chr11:103078825-103144599 (-)
BALB/cJ MGP_BALBcJ_G0019148
protein coding gene Chr11:100463970-100527739 (-)
C3H/HeJ MGP_C3HHeJ_G0018957
protein coding gene Chr11:103256386-103320972 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019597
protein coding gene Chr11:107634844-107702234 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017223
protein coding gene Chr11:97368645-97429426 (-)
CAST/EiJ MGP_CASTEiJ_G0018511
protein coding gene Chr11:104222118-104301390 (-)
CBA/J MGP_CBAJ_G0018926
protein coding gene Chr11:112063377-112136248 (-)
DBA/2J MGP_DBA2J_G0019038
protein coding gene Chr11:99492400-99557301 (-)
FVB/NJ MGP_FVBNJ_G0019028
protein coding gene Chr11:99035347-99098488 (-)
LP/J MGP_LPJ_G0019107
protein coding gene Chr11:104898191-104964493 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019059
protein coding gene Chr11:111620052-111698319 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019635
protein coding gene Chr11:103407744-103479854 (-)
PWK/PhJ MGP_PWKPhJ_G0018274
protein coding gene Chr11:100554507-100620472 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018066
protein coding gene Chr11:103137372-103210964 (-)
WSB/EiJ MGP_WSBEiJ_G0018560
protein coding gene Chr11:103404850-103468781 (-)



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
    UniProt: P38398

  • Chr Location
    17q21.31; chr17:43044295-43125483 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 11 models
      
IDs
View 3 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    8 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
    157 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000017146 Ensembl Gene Model | MGI Sequence Detail 63192 C57BL/6J ±  kb
    transcript ENSMUST00000017290 Ensembl | MGI Sequence Detail 6572 Not Applicable  
    polypeptide ENSMUSP00000017290 Ensembl | MGI Sequence Detail 1812 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 160
      Genomic 16
      cDNA 138
      Primer pair 5
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-25968
    References
    more
    • Summaries
      All 323
      Developmental Gene Expression 45
      Diseases 8
      Gene Ontology 25
      Phenotypes 157
    • 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:265467 Dravis C, et al., Epigenetic and Transcriptomic Profiling of Mammary Gland Development and Tumor Models Disclose Regulators of Cell State Plasticity. Cancer Cell. 2018 Sep 10;34(3):466-482.e6

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory