Homo sapiens Gene: BRCA1
Summary
InnateDB Gene IDBG-52172.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BRCA1
Gene Name breast cancer 1, early onset
Synonyms BRCAI; BRCC1; BROVCA1; IRIS; PNCA4; PPP1R53; PSCP; RNF53;
Species Homo sapiens
Ensembl Gene ENSG00000012048
Encoded Proteins
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
breast cancer 1, early onset
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 17:43044295-43125483
Strand Reverse strand
Band q21.31
Transcripts
ENST00000357654 ENSP00000350283
ENST00000354071 ENSP00000326002
ENST00000352993 ENSP00000312236
ENST00000412061 ENSP00000397145
ENST00000468300 ENSP00000417148
ENST00000471181 ENSP00000418960
ENST00000493795 ENSP00000418775
ENST00000461221 ENSP00000418548
ENST00000491747 ENSP00000420705
ENST00000478531 ENSP00000420412
ENST00000484087 ENSP00000419481
ENST00000493919 ENSP00000418819
ENST00000472490
ENST00000487825 ENSP00000418212
ENST00000461574 ENSP00000417241
ENST00000470026 ENSP00000419274
ENST00000477152 ENSP00000419988
ENST00000492859 ENSP00000420253
ENST00000497488 ENSP00000418986
ENST00000494123 ENSP00000419103
ENST00000473961 ENSP00000420201
ENST00000476777 ENSP00000417554
ENST00000461798 ENSP00000417988
ENST00000489037 ENSP00000420781
ENST00000586385 ENSP00000465818
ENST00000591534 ENSP00000467329
ENST00000591849 ENSP00000465347
ENST00000621897
ENST00000618469 ENSP00000478114
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 625 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Experimentally validated
Total 625 [view]
Protein-Protein 603 [view]
Protein-DNA 15 [view]
Protein-RNA 0
DNA-DNA 7 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0003713 transcription coactivator activity
GO:0003723 RNA binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0015631 tubulin binding
GO:0016874 ligase activity
GO:0019899 enzyme binding
GO:0031625 ubiquitin protein ligase binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0050681 androgen receptor binding
Biological Process
GO:0000724 double-strand break repair via homologous recombination
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006301 postreplication repair
GO:0006302 double-strand break repair
GO:0006349 regulation of gene expression by genetic imprinting
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006359 regulation of transcription from RNA polymerase III promoter
GO:0006633 fatty acid biosynthetic process
GO:0006915 apoptotic process
GO:0006974 cellular response to DNA damage stimulus
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0007059 chromosome segregation
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:0010212 response to ionizing radiation
GO:0016567 protein ubiquitination
GO:0030521 androgen receptor signaling pathway
GO:0031398 positive regulation of protein ubiquitination
GO:0031572 G2 DNA damage checkpoint
GO:0034446 substrate adhesion-dependent cell spreading
GO:0035066 positive regulation of histone acetylation
GO:0035067 negative regulation of histone acetylation
GO:0042127 regulation of cell proliferation
GO:0042981 regulation of apoptotic process
GO:0043009 chordate embryonic development
GO:0043627 response to estrogen
GO:0044030 regulation of DNA methylation
GO:0045717 negative regulation of fatty acid biosynthetic process
GO:0045739 positive regulation of DNA repair
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046600 negative regulation of centriole replication
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:0071158 positive regulation of cell cycle arrest
GO:0071681 cellular response to indole-3-methanol
GO:0085020 protein K6-linked ubiquitination
GO:2000145 regulation of cell motility
GO:2000617 positive regulation of histone H3-K9 acetylation
GO:2000620 positive regulation of histone H4-K16 acetylation
Cellular Component
GO:0000151 ubiquitin ligase complex
GO:0000793 condensed chromosome
GO:0000794 condensed nuclear chromosome
GO:0001726 ruffle
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0008274 gamma-tubulin ring complex
GO:0030529 ribonucleoprotein complex
GO:0031436 BRCA1-BARD1 complex
GO:0031941 filamentous actin
GO:0043234 protein complex
GO:0070531 BRCA1-A complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
AndrogenReceptor pathway
TGF_beta_Receptor pathway
REACTOME
Homologous Recombination Repair pathway
Meiotic synapsis pathway
Double-Strand Break Repair pathway
Recruitment of repair and signaling proteins to double-strand breaks pathway
Cell Cycle pathway
Fanconi Anemia pathway pathway
Meiotic recombination pathway
Homologous recombination repair of replication-independent double-strand breaks pathway
ATM mediated response to DNA double-strand break pathway
Meiosis pathway
ATM mediated phosphorylation of repair proteins pathway
DNA Repair pathway
KEGG
Ubiquitin mediated proteolysis pathway
INOH
PID BIOCARTA
Atm signaling pathway [Biocarta view]
Cell cycle: g2/m checkpoint [Biocarta view]
Brca1 dependent ub ligase activity [Biocarta view]
Role of brca1 brca2 and atr in cancer susceptibility [Biocarta view]
PID NCI
Aurora A signaling
Validated nuclear estrogen receptor alpha network
Coregulation of Androgen receptor activity
Fanconi anemia pathway
ATF-2 transcription factor network
Validated targets of C-MYC transcriptional repression
E2F transcription factor network
BARD1 signaling events
ATM pathway
FOXA1 transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.194143 Hs.622171
RefSeq NM_007294 NM_007297 NM_007298 NM_007299 NM_007300 XM_006722029 XM_006722030 XM_006722031 XM_006722032 XM_006722033 XM_006722034 XM_006722035 XM_006722036 XM_006722040
HUGO
OMIM
CCDS CCDS11453 CCDS11454 CCDS11455 CCDS11456 CCDS11459
HPRD 00218
IMGT
EMBL
GenPept
RNA Seq Atlas