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

    Gene ID: 12189, updated on 9-May-2017
    Official Symbol
    Brca1provided by MGI
    Official Full Name
    breast cancer 1, early onsetprovided by MGI
    Primary source
    MGI:MGI:104537
    See related
    Ensembl:ENSMUSG00000017146 Vega:OTTMUSG00000002870
    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
    Orthologs
    Location:
    11 65.18 cM; 11 D
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (101488761..101551957, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (101350078..101413269, complement)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene Rho family GTPase 2 Neighboring gene predicted gene 11625 Neighboring gene neighbor of Brca1 gene 1 Neighboring gene transmembrane protein 106A

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    damaged DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
     
    ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    G2 DNA damage checkpoint ISO
    Inferred from Sequence Orthology
    more info
     
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to indole-3-methanol ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to tumor necrosis factor ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome cycle IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    centrosome duplication TAS
    Traceable Author Statement
    more info
    PubMed 
    chordate embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
     
    dosage compensation by inactivation of X chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair ISO
    Inferred from Sequence Orthology
    more info
     
    double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic G2/M transition checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway via death domain receptors ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of fatty acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of histone H3-K9 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of histone H3-K9 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of intracellular estrogen receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cell cycle arrest IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of cell cycle arrest ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H3-K4 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone H3-K9 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H3-K9 acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone H3-K9 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H4-K16 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H4-K16 acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone H4-K20 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H4-K20 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein import into nucleus, translocation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of vascular endothelial growth factor production ISO
    Inferred from Sequence Orthology
    more info
     
    postreplication repair ISO
    Inferred from Sequence Orthology
    more info
     
    protein K6-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of DNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of gene expression by genetic imprinting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen ISO
    Inferred from Sequence Orthology
    more info
     
    response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BRCA1-A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    BRCA1-A complex ISO
    Inferred from Sequence Orthology
    more info
     
    BRCA1-BARD1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    BRCA1-BARD1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome TAS
    Traceable Author Statement
    more info
    PubMed 
    chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    lateral element ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Preferred Names
    breast cancer type 1 susceptibility protein homolog
    Names
    RING-type E3 ubiquitin transferase BRCA1
    breast cancer associated 1
    NP_033894.3
    XP_006532127.1
    XP_006532131.1
    XP_017169722.1

    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
      ENSMUSP00000017290.4, OTTMUSP00000002773, ENSMUST00000017290.10, OTTMUST00000005869
      Conserved Domains (4) summary
      smart00292
      Location:17001784
      BRCT; breast cancer carboxy-terminal domain
      cd00162
      Location:2368
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam00533
      Location:15911666
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12820
      Location:342503
      BRCT_assoc; Serine-rich domain associated with BRCT

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      101488761..101551957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532064.3XP_006532127.1  breast cancer type 1 susceptibility protein homolog isoform X1

      Conserved Domains (4) summary
      smart00292
      Location:16551739
      BRCT; breast cancer carboxy-terminal domain
      cd00162
      Location:2368
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam00533
      Location:15461621
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12820
      Location:342503
      BRCT_assoc; Serine-rich domain associated with BRCT
    2. XM_006532068.2XP_006532131.1  breast cancer type 1 susceptibility protein homolog isoform X3

      Conserved Domains (3) summary
      smart00292
      Location:595679
      BRCT; breast cancer carboxy-terminal domain
      cd00162
      Location:2368
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam00533
      Location:486561
      BRCT; BRCA1 C Terminus (BRCT) domain
    3. XM_017314233.1XP_017169722.1  breast cancer type 1 susceptibility protein homolog isoform X2

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