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

Gene ID: 12189, updated on 28-Jun-2022

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 AllianceGenome:MGI:104537
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
Summary
Enables damaged DNA binding activity and transcription cis-regulatory region binding activity. Involved in several processes, including regulation of gene expression by genetic imprinting; regulation of histone modification; and regulation of nucleobase-containing compound metabolic process. Acts upstream of or within several processes, including centrosome cycle; dosage compensation by inactivation of X chromosome; and mitotic G2/M transition checkpoint. Located in condensed nuclear chromosome and cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and integumental system. Used to study breast cancer. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); cervix uteri carcinoma in situ; gastrointestinal system cancer (multiple); hereditary breast ovarian cancer syndrome; and reproductive organ cancer (multiple). Orthologous to human BRCA1 (BRCA1 DNA repair associated). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver E14 (RPKM 5.9), CNS E11.5 (RPKM 5.7) and 12 other tissues See more
Orthologs
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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
 
involved_in DNA repair IC
Inferred by Curator
more info
PubMed 
involved_in DNA strand resection involved in replication fork processing IC
Inferred by Curator
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to DNA damage stimulus IC
Inferred by Curator
more info
PubMed 
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 ionizing radiation 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
 
involved_in histone H2A K63-linked deubiquitination IC
Inferred by Curator
more info
PubMed 
involved_in histone H2A monoubiquitination IC
Inferred by Curator
more info
PubMed 
involved_in homologous recombination IC
Inferred by Curator
more info
PubMed 
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
 
involved_in mitotic G2/M transition checkpoint IC
Inferred by Curator
more info
PubMed 
acts_upstream_of_or_within mitotic G2/M transition checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
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 positive regulation of DNA repair ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA-templated transcription 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 cell cycle IC
Inferred by Curator
more info
PubMed 
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 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 IC
Inferred by Curator
more info
PubMed 
involved_in protein autoubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in protein polyubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in protein ubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of DNA damage checkpoint IC
Inferred by Curator
more info
PubMed 
involved_in regulation of DNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of DNA repair IC
Inferred by Curator
more info
PubMed 
acts_upstream_of regulation of cell cycle ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of gene expression by genomic 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 IC
Inferred by Curator
more info
PubMed 
part_of BRCA1-A complex ISO
Inferred from Sequence Orthology
more info
 
part_of BRCA1-B 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
 
part_of BRCA1-C complex ISO
Inferred from Sequence Orthology
more info
 
part_of DNA repair complex ISO
Inferred from Sequence Orthology
more info
 
located_in XY body IDA
Inferred from Direct Assay
more info
PubMed 
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 male germ cell nucleus IDA
Inferred from Direct Assay
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
 
part_of nuclear ubiquitin ligase complex 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 IC
Inferred by Curator
more info
PubMed 
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