InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: BRCA1

Summary

InnateDB Gene

IDBG-640630.3

Last Modified

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

Gene Symbol

BRCA1

Gene Name

breast cancer type 1 susceptibility protein homolog

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000022520

Encoded Proteins

IDBP-692940

breast cancer type 1 susceptibility protein homolog

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 19:43714457-43783351

Strand

Reverse strand

Band

Transcripts

ENSBTAT00000011616

ENSBTAP00000011616

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 377 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	377 [view]

Gene Ontology

Molecular Function

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

Biological Process

GO:0006260	DNA replication
GO:0006281	DNA repair
GO:0006349	regulation of gene expression by genetic imprinting
GO:0006974	cellular response to DNA damage stimulus
GO:0007098	centrosome cycle
GO:0009048	dosage compensation by inactivation of X chromosome
GO:0016567	protein ubiquitination
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:0045944	positive regulation of transcription from RNA polymerase II promoter
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:0070512	positive regulation of histone H4-K20 methylation
GO:2000617	positive regulation of histone H3-K9 acetylation
GO:2000620	positive regulation of histone H4-K16 acetylation