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BRCA1
GENERAL INFORMATION
Gene namei BRCA1
Gene descriptioni BRCA1, DNA repair associated
Protein classi Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted localizationi Intracellular
Number of transcriptsi 24
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HUMAN PROTEIN ATLAS INFORMATION
RNA categoryi
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Mixed
Protein evidencei Evidence at protein level
Protein expression
normal tissuei		 Nuclear and cytoplasmic expression in a fraction of cells in several tissues.

IMMUNOHISTOCHEMISTRY DATA RELIABILITY
Data reliability
descriptioni		 Antibody staining mainly consistent with RNA expression data.
Reliability score -
normal tissuesi
Enhanced
Antibodiesi HPA034966 , HPA057371 , CAB001946
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PROGNOSTIC SUMMARYi
Gene product is not prognostic.
Show all
RNA EXPRESSION OVERVIEWi
TCGA dataseti
RNA cancer category: Expressed in all
PROTEIN EXPRESSIONi
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Testis cancer
PROTEIN EXPRESSION SUMMARYi
Organ
Expression
Alphabetical
HPA034966
HPA057371
CAB001946
GENE INFORMATIONi
Gene name BRCA1 (HGNC Symbol)
Synonyms BRCC1, FANCS, PPP1R53, RNF53
Description BRCA1, DNA repair associated (HGNC Symbol)
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]
Chromosome 17
Cytoband q21.31
Chromosome location (bp) 43044295 - 43170245
Protein evidence Evidence at protein level (all genes)
Ensembl ENSG00000012048 (version 88.38)
Entrez gene 672
UniProt P38398 (UniProt - Evidence at protein level)
neXtProt NX_P38398
Antibodypedia BRCA1 antibodies
PROTEIN BROWSERi
«
BRCA1-001
BRCA1-003
BRCA1-004
BRCA1-005
BRCA1-006
BRCA1-007
BRCA1-008
BRCA1-009
BRCA1-011
BRCA1-012
BRCA1-013
BRCA1-014
BRCA1-015
BRCA1-016
BRCA1-017
BRCA1-018
BRCA1-019
BRCA1-022
BRCA1-023
BRCA1-024
BRCA1-025
BRCA1-027
BRCA1-029
BRCA1-030
»
PROTEIN INFORMATIONi
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
BRCA1-001
ENSP00000350283
ENST00000357654
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Enzymes
   ENZYME proteins
   Transferases
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000731 [DNA synthesis involved in DNA repair]
GO:0000732 [strand displacement]
GO:0000800 [lateral element]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003723 [RNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006260 [DNA replication]
GO:0006281 [DNA repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006359 [regulation of transcription from RNA polymerase III promoter]
GO:0006629 [lipid metabolic process]
GO:0006631 [fatty acid metabolic process]
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:0007049 [cell cycle]
GO:0007059 [chromosome segregation]
GO:0008270 [zinc ion binding]
GO:0008274 [gamma-tubulin ring complex]
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:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0015631 [tubulin binding]
GO:0016567 [protein ubiquitination]
GO:0016579 [protein deubiquitination]
GO:0016740 [transferase activity]
GO:0019899 [enzyme binding]
GO:0030521 [androgen receptor signaling pathway]
GO:0030529 [intracellular ribonucleoprotein complex]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031572 [G2 DNA damage checkpoint]
GO:0031625 [ubiquitin protein ligase binding]
GO:0033147 [negative regulation of intracellular estrogen receptor signaling pathway]
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:0043234 [protein complex]
GO:0043627 [response to estrogen]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045717 [negative regulation of fatty acid biosynthetic process]
GO:0045739 [positive regulation of DNA repair]
GO:0045766 [positive regulation of angiogenesis]
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:0046872 [metal ion binding]
GO:0050681 [androgen receptor binding]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0051573 [negative regulation of histone H3-K9 methylation]
GO:0051865 [protein autoubiquitination]
GO:0070512 [positive regulation of histone H4-K20 methylation]
GO:0070531 [BRCA1-A complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0071681 [cellular response to indole-3-methanol]
GO:0085020 [protein K6-linked ubiquitination]
GO:1901796 [regulation of signal transduction by p53 class mediator]
GO:1902042 [negative regulation of extrinsic apoptotic signaling pathway via death domain receptors]
GO:2000378 [negative regulation of reactive oxygen species metabolic process]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
 1863 aa
207.7 kDa 		No 0
BRCA1-003
ENSP00000418986
ENST00000497488
C9IZW4 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 177 aa
20 kDa 		No 0
BRCA1-004
ENSP00000419988
ENST00000477152
E9PH68 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0046872 [metal ion binding]
Show all
 622 aa
70 kDa 		No 0
BRCA1-005
ENSP00000418960
ENST00000471181
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Enzymes
   ENZYME proteins
   Transferases
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000731 [DNA synthesis involved in DNA repair]
GO:0000732 [strand displacement]
GO:0000793 [condensed chromosome]
GO:0000794 [condensed nuclear chromosome]
GO:0000800 [lateral element]
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:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006260 [DNA replication]
GO:0006281 [DNA repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0006349 [regulation of gene expression by genetic imprinting]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006359 [regulation of transcription from RNA polymerase III promoter]
GO:0006629 [lipid metabolic process]
GO:0006631 [fatty acid metabolic process]
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:0007049 [cell cycle]
GO:0007059 [chromosome segregation]
GO:0007098 [centrosome cycle]
GO:0008270 [zinc ion binding]
GO:0008274 [gamma-tubulin ring complex]
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:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0015631 [tubulin binding]
GO:0016567 [protein ubiquitination]
GO:0016579 [protein deubiquitination]
GO:0016740 [transferase activity]
GO:0019899 [enzyme binding]
GO:0030521 [androgen receptor signaling pathway]
GO:0030529 [intracellular ribonucleoprotein complex]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031572 [G2 DNA damage checkpoint]
GO:0031625 [ubiquitin protein ligase binding]
GO:0033147 [negative regulation of intracellular estrogen receptor signaling pathway]
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:0043234 [protein complex]
GO:0043627 [response to estrogen]
GO:0044030 [regulation of DNA methylation]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045717 [negative regulation of fatty acid biosynthetic process]
GO:0045739 [positive regulation of DNA repair]
GO:0045766 [positive regulation of angiogenesis]
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:0046872 [metal ion binding]
GO:0050681 [androgen receptor binding]
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:0070531 [BRCA1-A complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0071681 [cellular response to indole-3-methanol]
GO:0085020 [protein K6-linked ubiquitination]
GO:1901796 [regulation of signal transduction by p53 class mediator]
GO:1902042 [negative regulation of extrinsic apoptotic signaling pathway via death domain receptors]
GO:2000378 [negative regulation of reactive oxygen species metabolic process]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
 1884 aa
210.3 kDa 		No 0
BRCA1-006
ENSP00000418775
ENST00000493795
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Enzymes
   ENZYME proteins
   Transferases
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000731 [DNA synthesis involved in DNA repair]
GO:0000732 [strand displacement]
GO:0000800 [lateral element]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003723 [RNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006260 [DNA replication]
GO:0006281 [DNA repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006359 [regulation of transcription from RNA polymerase III promoter]
GO:0006629 [lipid metabolic process]
GO:0006631 [fatty acid metabolic process]
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:0007049 [cell cycle]
GO:0007059 [chromosome segregation]
GO:0008270 [zinc ion binding]
GO:0008274 [gamma-tubulin ring complex]
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:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0015631 [tubulin binding]
GO:0016567 [protein ubiquitination]
GO:0016579 [protein deubiquitination]
GO:0016740 [transferase activity]
GO:0019899 [enzyme binding]
GO:0030521 [androgen receptor signaling pathway]
GO:0030529 [intracellular ribonucleoprotein complex]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031572 [G2 DNA damage checkpoint]
GO:0031625 [ubiquitin protein ligase binding]
GO:0033147 [negative regulation of intracellular estrogen receptor signaling pathway]
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:0043234 [protein complex]
GO:0043627 [response to estrogen]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045717 [negative regulation of fatty acid biosynthetic process]
GO:0045739 [positive regulation of DNA repair]
GO:0045766 [positive regulation of angiogenesis]
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:0046872 [metal ion binding]
GO:0050681 [androgen receptor binding]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0051573 [negative regulation of histone H3-K9 methylation]
GO:0051865 [protein autoubiquitination]
GO:0070512 [positive regulation of histone H4-K20 methylation]
GO:0070531 [BRCA1-A complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0071681 [cellular response to indole-3-methanol]
GO:0085020 [protein K6-linked ubiquitination]
GO:1901796 [regulation of signal transduction by p53 class mediator]
GO:1902042 [negative regulation of extrinsic apoptotic signaling pathway via death domain receptors]
GO:2000378 [negative regulation of reactive oxygen species metabolic process]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
 1816 aa
202.3 kDa 		No 0
BRCA1-007
ENSP00000417148
ENST00000468300
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Enzymes
   ENZYME proteins
   Transferases
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000731 [DNA synthesis involved in DNA repair]
GO:0000732 [strand displacement]
GO:0000800 [lateral element]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003723 [RNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006260 [DNA replication]
GO:0006281 [DNA repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006359 [regulation of transcription from RNA polymerase III promoter]
GO:0006629 [lipid metabolic process]
GO:0006631 [fatty acid metabolic process]
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:0007049 [cell cycle]
GO:0007059 [chromosome segregation]
GO:0008270 [zinc ion binding]
GO:0008274 [gamma-tubulin ring complex]
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:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0015631 [tubulin binding]
GO:0016567 [protein ubiquitination]
GO:0016579 [protein deubiquitination]
GO:0016740 [transferase activity]
GO:0019899 [enzyme binding]
GO:0030521 [androgen receptor signaling pathway]
GO:0030529 [intracellular ribonucleoprotein complex]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031572 [G2 DNA damage checkpoint]
GO:0031625 [ubiquitin protein ligase binding]
GO:0033147 [negative regulation of intracellular estrogen receptor signaling pathway]
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:0043234 [protein complex]
GO:0043627 [response to estrogen]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045717 [negative regulation of fatty acid biosynthetic process]
GO:0045739 [positive regulation of DNA repair]
GO:0045766 [positive regulation of angiogenesis]
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:0046872 [metal ion binding]
GO:0050681 [androgen receptor binding]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0051573 [negative regulation of histone H3-K9 methylation]
GO:0051865 [protein autoubiquitination]
GO:0070512 [positive regulation of histone H4-K20 methylation]
GO:0070531 [BRCA1-A complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0071681 [cellular response to indole-3-methanol]
GO:0085020 [protein K6-linked ubiquitination]
GO:1901796 [regulation of signal transduction by p53 class mediator]
GO:1902042 [negative regulation of extrinsic apoptotic signaling pathway via death domain receptors]
GO:2000378 [negative regulation of reactive oxygen species metabolic process]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
 699 aa
78.2 kDa 		No 0
BRCA1-008
ENSP00000418819
ENST00000493919
B7ZA85 [Direct mapping]
Breast cancer type 1 susceptibility protein; cDNA, FLJ79099, highly similar to Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant BRCA1-delta 11b, mRNA
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 572 aa
63.6 kDa 		No 0
BRCA1-009
ENSP00000420412
ENST00000478531
E7EUM2 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0046872 [metal ion binding]
Show all
 623 aa
69.5 kDa 		No 0
BRCA1-011
ENSP00000419274
ENST00000470026
E7EWN5 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0046872 [metal ion binding]
Show all
 649 aa
73.1 kDa 		No 0
BRCA1-012
ENSP00000326002
ENST00000354071
Q5YLB2 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0006281 [DNA repair]
GO:0006310 [DNA recombination]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007049 [cell cycle]
GO:0008270 [zinc ion binding]
GO:0031436 [BRCA1-BARD1 complex]
GO:0046872 [metal ion binding]
GO:0051865 [protein autoubiquitination]
GO:0085020 [protein K6-linked ubiquitination]
Show all
 1399 aa
156.3 kDa 		No 0
BRCA1-013
ENSP00000419103
ENST00000494123
Q3B891 [Direct mapping]
BRCA1 protein; Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0046872 [metal ion binding]
Show all
 473 aa
53.4 kDa 		No 0
BRCA1-014
ENSP00000420705
ENST00000491747
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
A0A024R1V0 [Target identity:100%; Query identity:100%]
Breast cancer 1, early onset, isoform CRA_d
Show all
Enzymes
   ENZYME proteins
   Transferases
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000731 [DNA synthesis involved in DNA repair]
GO:0000732 [strand displacement]
GO:0000800 [lateral element]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003723 [RNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006260 [DNA replication]
GO:0006281 [DNA repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006359 [regulation of transcription from RNA polymerase III promoter]
GO:0006629 [lipid metabolic process]
GO:0006631 [fatty acid metabolic process]
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:0007049 [cell cycle]
GO:0007059 [chromosome segregation]
GO:0008270 [zinc ion binding]
GO:0008274 [gamma-tubulin ring complex]
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:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0015631 [tubulin binding]
GO:0016567 [protein ubiquitination]
GO:0016579 [protein deubiquitination]
GO:0016740 [transferase activity]
GO:0019899 [enzyme binding]
GO:0030521 [androgen receptor signaling pathway]
GO:0030529 [intracellular ribonucleoprotein complex]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031572 [G2 DNA damage checkpoint]
GO:0031625 [ubiquitin protein ligase binding]
GO:0033147 [negative regulation of intracellular estrogen receptor signaling pathway]
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:0043234 [protein complex]
GO:0043627 [response to estrogen]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045717 [negative regulation of fatty acid biosynthetic process]
GO:0045739 [positive regulation of DNA repair]
GO:0045766 [positive regulation of angiogenesis]
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:0046872 [metal ion binding]
GO:0050681 [androgen receptor binding]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0051573 [negative regulation of histone H3-K9 methylation]
GO:0051865 [protein autoubiquitination]
GO:0070512 [positive regulation of histone H4-K20 methylation]
GO:0070531 [BRCA1-A complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0071681 [cellular response to indole-3-methanol]
GO:0085020 [protein K6-linked ubiquitination]
GO:1901796 [regulation of signal transduction by p53 class mediator]
GO:1902042 [negative regulation of extrinsic apoptotic signaling pathway via death domain receptors]
GO:2000378 [negative regulation of reactive oxygen species metabolic process]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
 759 aa
85 kDa 		No 0
BRCA1-015
ENSP00000419481
ENST00000484087
H0Y8B8 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 498 aa
55.5 kDa 		No 0
BRCA1-016
ENSP00000420781
ENST00000489037
E7ENB7 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 98 aa
11.2 kDa 		No 0
BRCA1-017
ENSP00000417554
ENST00000476777
E7EQW4 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0046872 [metal ion binding]
Show all
 222 aa
25.1 kDa 		No 0
BRCA1-018
ENSP00000420201
ENST00000473961
H0Y8D8 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 319 aa
35.9 kDa 		No 0
BRCA1-019
ENSP00000418212
ENST00000487825
H0Y881 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 266 aa
29.5 kDa 		No 0
BRCA1-022
ENSP00000417241
ENST00000461574
H0Y850 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 242 aa
26.3 kDa 		No 0
BRCA1-023
ENSP00000465818
ENST00000586385
C6YB45 [Direct mapping]
BRCA1 isoform E1aA-Delta 2-17; Breast cancer type 1 susceptibility protein
Show all
   Phobius predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016567 [protein ubiquitination]
Show all
 173 aa
19.8 kDa 		No 0
BRCA1-024
ENSP00000467329
ENST00000591534
K7EPC7 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 354 aa
39.8 kDa 		No 0
BRCA1-025
ENSP00000465347
ENST00000591849
K7EJW3 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
Show all
 96 aa
10.9 kDa 		No 0
BRCA1-027
ENSP00000478114
ENST00000618469
G1UI37 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 23 aa
2.6 kDa 		No 0
BRCA1-029
ENSP00000312236
ENST00000352993
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
A0A024R1Z8 [Target identity:100%; Query identity:100%]
Breast cancer 1, early onset, isoform CRA_b
Show all
Enzymes
   ENZYME proteins
   Transferases
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000731 [DNA synthesis involved in DNA repair]
GO:0000732 [strand displacement]
GO:0000800 [lateral element]
GO:0003677 [DNA binding]
GO:0003713 [transcription coactivator activity]
GO:0003723 [RNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006260 [DNA replication]
GO:0006281 [DNA repair]
GO:0006301 [postreplication repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006359 [regulation of transcription from RNA polymerase III promoter]
GO:0006629 [lipid metabolic process]
GO:0006631 [fatty acid metabolic process]
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:0007049 [cell cycle]
GO:0007059 [chromosome segregation]
GO:0008270 [zinc ion binding]
GO:0008274 [gamma-tubulin ring complex]
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:0010575 [positive regulation of vascular endothelial growth factor production]
GO:0010628 [positive regulation of gene expression]
GO:0015631 [tubulin binding]
GO:0016567 [protein ubiquitination]
GO:0016579 [protein deubiquitination]
GO:0016740 [transferase activity]
GO:0019899 [enzyme binding]
GO:0030521 [androgen receptor signaling pathway]
GO:0030529 [intracellular ribonucleoprotein complex]
GO:0031398 [positive regulation of protein ubiquitination]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031572 [G2 DNA damage checkpoint]
GO:0031625 [ubiquitin protein ligase binding]
GO:0033147 [negative regulation of intracellular estrogen receptor signaling pathway]
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:0043234 [protein complex]
GO:0043627 [response to estrogen]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045717 [negative regulation of fatty acid biosynthetic process]
GO:0045739 [positive regulation of DNA repair]
GO:0045766 [positive regulation of angiogenesis]
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:0046872 [metal ion binding]
GO:0050681 [androgen receptor binding]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0051573 [negative regulation of histone H3-K9 methylation]
GO:0051865 [protein autoubiquitination]
GO:0070512 [positive regulation of histone H4-K20 methylation]
GO:0070531 [BRCA1-A complex]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0071681 [cellular response to indole-3-methanol]
GO:0085020 [protein K6-linked ubiquitination]
GO:1901796 [regulation of signal transduction by p53 class mediator]
GO:1902042 [negative regulation of extrinsic apoptotic signaling pathway via death domain receptors]
GO:2000378 [negative regulation of reactive oxygen species metabolic process]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
GO:2000620 [positive regulation of histone H4-K16 acetylation]
Show all
 721 aa
80.6 kDa 		No 0
BRCA1-030
ENSP00000489431
ENST00000634433
A0A0U1RRA9 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0046872 [metal ion binding]
Show all
 798 aa
89.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.