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    Brca1 breast cancer 1, early onset [ Mus musculus (house mouse) ]

    Gene ID: 12189, updated on 14-Sep-2021

    Summary

    Official Symbol
    Brca1provided by MGI
    Official Full Name
    breast cancer 1, early onsetprovided by MGI
    Primary source
    MGI:MGI:104537
    See related
    Ensembl:ENSMUSG00000017146
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Expression
    Biased expression in liver E14 (RPKM 5.9), CNS E11.5 (RPKM 5.7) and 12 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Brca1 in Genome Data Viewer
    Location:
    11 65.18 cM; 11 D
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (101379587..101442808, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (101488761..101551955, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (101350078..101413269, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene Rho family GTPase 2 Neighboring gene predicted gene 11625 Neighboring gene NBR1, autophagy cargo receptor Neighboring gene transmembrane protein 106A

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables RNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription coactivator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to indole-3-methanol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to tumor necrosis factor ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within centrosome cycle IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in centrosome duplication TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chordate embryonic development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within chordate embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in dosage compensation by inactivation of X chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within dosage compensation by inactivation of X chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic G2 DNA damage checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within mitotic G2/M transition checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of fatty acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of histone H3-K9 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of histone H3-K9 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of histone acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of intracellular estrogen receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone H3-K4 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of histone H3-K9 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone H3-K9 acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of histone H3-K9 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone H4-K16 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone H4-K16 acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of histone H4-K20 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone H4-K20 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of histone acetylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein import into nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of vascular endothelial growth factor production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in postreplication repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein K6-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of gene expression by genetic imprinting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to estrogen ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of BRCA1-A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BRCA1-A complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of BRCA1-BARD1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BRCA1-BARD1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lateral element ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    breast cancer type 1 susceptibility protein homolog
    Names
    RING-type E3 ubiquitin transferase BRCA1
    breast and ovarian cancer susceptibility protein
    breast cancer associated 1
    NP_033894.3
    XP_006532127.1
    XP_006532131.1
    XP_030101355.1
    XP_036012146.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009764.3NP_033894.3  breast cancer type 1 susceptibility protein homolog

      See identical proteins and their annotated locations for NP_033894.3

      Status: VALIDATED

      Source sequence(s)
      AB221610, AB221611, BB662609, BC068303, U36475
      Consensus CDS
      CCDS25474.1
      UniProtKB/Swiss-Prot
      P48754
      UniProtKB/TrEMBL
      Q6NV63
      Related
      ENSMUSP00000017290.5, ENSMUST00000017290.11
      Conserved Domains (5) summary
      TIGR00599
      Location:15172
      rad18; DNA repair protein rad18
      cd16498
      Location:1865
      RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17721
      Location:17001797
      BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17735
      Location:15931689
      BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      pfam12820
      Location:342503
      BRCT_assoc; Serine-rich domain associated with BRCT

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      101379587..101442808 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532068.4XP_006532131.1  breast cancer type 1 susceptibility protein homolog isoform X4

      Conserved Domains (4) summary
      TIGR00599
      Location:15172
      rad18; DNA repair protein rad18
      cd16498
      Location:1865
      RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17721
      Location:595692
      BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17735
      Location:488584
      BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
    2. XM_006532064.5XP_006532127.1  breast cancer type 1 susceptibility protein homolog isoform X2

      Conserved Domains (5) summary
      TIGR00599
      Location:15172
      rad18; DNA repair protein rad18
      cd16498
      Location:1865
      RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17721
      Location:16551752
      BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17735
      Location:15481644
      BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      pfam12820
      Location:342503
      BRCT_assoc; Serine-rich domain associated with BRCT
    3. XM_036156253.1XP_036012146.1  breast cancer type 1 susceptibility protein homolog isoform X3

      Conserved Domains (3) summary
      cd17721
      Location:16531750
      BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17735
      Location:15461642
      BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      pfam12820
      Location:295456
      BRCT_assoc; Serine-rich domain associated with BRCT
    4. XM_030245495.2XP_030101355.1  breast cancer type 1 susceptibility protein homolog isoform X1

      Conserved Domains (5) summary
      TIGR00599
      Location:15172
      rad18; DNA repair protein rad18
      cd16498
      Location:1865
      RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17721
      Location:17001797
      BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      cd17735
      Location:15931689
      BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
      pfam12820
      Location:342503
      BRCT_assoc; Serine-rich domain associated with BRCT

    RNA

    1. XR_004936704.1 RNA Sequence

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