InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Brca1

Summary

InnateDB Gene

IDBG-212218.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Brca1

Gene Name

breast cancer 1

Synonyms

Species

Mus musculus

Ensembl Gene

ENSMUSG00000017146

Encoded Proteins

IDBP-212220

breast cancer 1

IDBP-788733

breast cancer 1

IDBP-788729

breast cancer 1

IDBP-788735

breast cancer 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000012048:
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40%% of inherited breast cancers and more than 80%% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:101488764-101551955

Strand

Reverse strand

Band

Transcripts

ENSMUST00000017290	ENSMUSP00000017290
ENSMUST00000156843
ENSMUST00000131460
ENSMUST00000142086	ENSMUSP00000139813
ENSMUST00000191198	ENSMUSP00000139737
ENSMUST00000188168
ENSMUST00000190862	ENSMUSP00000139599

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 389 interaction(s) predicted by orthology.

Experimentally validated
Total	26 [view]
Protein-Protein	25 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	389 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003684	damaged DNA binding
GO:0003723	RNA binding
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0044212	transcription regulatory region DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0006260	DNA replication
GO:0006281	DNA repair
GO:0006310	DNA recombination
GO:0006349	regulation of gene expression by genetic imprinting
GO:0006633	fatty acid biosynthetic process
GO:0006974	cellular response to DNA damage stimulus
GO:0007098	centrosome cycle
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009048	dosage compensation by inactivation of X chromosome
GO:0035066	positive regulation of histone acetylation
GO:0035067	negative regulation of histone acetylation
GO:0043009	chordate embryonic development
GO:0044030	regulation of DNA methylation
GO:0045717	negative regulation of fatty acid biosynthetic process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0051298	centrosome duplication
GO:0051571	positive regulation of histone H3-K4 methylation
GO:0051572	negative regulation of histone H3-K4 methylation
GO:0051573	negative regulation of histone H3-K9 methylation
GO:0051574	positive regulation of histone H3-K9 methylation
GO:0051865	protein autoubiquitination
GO:0070512	positive regulation of histone H4-K20 methylation
GO:0085020	protein K6-linked ubiquitination
GO:2000617	positive regulation of histone H3-K9 acetylation
GO:2000620	positive regulation of histone H4-K16 acetylation

Cellular Component

GO:0000793	condensed chromosome
GO:0000794	condensed nuclear chromosome
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005694	chromosome
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005886	plasma membrane
GO:0030529	ribonucleoprotein complex
GO:0031436	BRCA1-BARD1 complex