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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:101379590-101442781 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 65.18 cM, cytoband D
  • Mapping Data
    26 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1752 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104537
 protein coding gene Chr11:101379587-101442808 (-)
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
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BRCA1, BRCA1 DNA repair associated
  • 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; chr17:43044295-43170327 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Brca1 mouse models; 17 with human BRCA1 associations

Human Disease Mouse Models
      
IDs
 View 11 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
 View 3 models
IDs
IDs
IDs
IDs
 View 2 models
IDs
IDs
IDs
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
less
  • Phenotype Summary
    108 phenotypes from 19 alleles in 33 genetic backgrounds
    115 phenotypes from multigenic genotypes
    2 images
    242 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.
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
less
  • All GO Annotations
    131
  • GO References
    36
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1193
  • Tissues
    232
  • cDNA Data
    137
  • Literature Summary
    64
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 178
      Genomic 16
      cDNA 138
      Primer pair 16
      Other 8

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-25968
    References
    more
    • Summaries
      All 456
      Developmental Gene Expression 64
      Diseases 8
      Gene Ontology 36
      Phenotypes 242
    • 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:357390 Wiesheu R, et al., IL-27 maintains cytotoxic Ly6C(+) gammadelta T cells that arise from immature precursors. EMBO J. 2024 Jul;43(14):2878-2907
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory