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GENE INFORMATION
Gene name
BRCA1 (HGNC Symbol)
Synonyms
BRCC1, FANCS, PPP1R53, RNF53
Description
Breast cancer 1, early onset (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]
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
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 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: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:0006281 [DNA repair] GO:0006301 [postreplication repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006351 [transcription, DNA-templated] 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: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:0016874 [ligase activity] GO:0016925 [protein sumoylation] GO:0019899 [enzyme binding] GO:0030521 [androgen receptor signaling pathway] GO:0030529 [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:0043687 [post-translational protein modification] GO:0044212 [transcription regulatory region DNA binding] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] 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: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]
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
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 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:0000793 [condensed chromosome] GO:0000794 [condensed nuclear chromosome] GO:0003677 [DNA binding] GO:0003682 [chromatin 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:0005759 [mitochondrial matrix] 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:0006349 [regulation of gene expression by genetic imprinting] GO:0006351 [transcription, DNA-templated] 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:0007420 [brain development] GO:0007584 [response to nutrient] 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:0010033 [response to organic substance] 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:0016874 [ligase activity] GO:0016925 [protein sumoylation] GO:0019899 [enzyme binding] GO:0030521 [androgen receptor signaling pathway] GO:0030529 [ribonucleoprotein complex] GO:0031052 [chromosome breakage] 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:0032355 [response to estradiol] GO:0033147 [negative regulation of intracellular estrogen receptor signaling pathway] GO:0033160 [positive regulation of protein import into nucleus, translocation] GO:0033993 [response to lipid] 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:0043687 [post-translational protein modification] GO:0044030 [regulation of DNA methylation] GO:0044212 [transcription regulatory region DNA binding] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] 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: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]
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
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 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: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:0006281 [DNA repair] GO:0006301 [postreplication repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006351 [transcription, DNA-templated] 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: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:0016874 [ligase activity] GO:0016925 [protein sumoylation] GO:0019899 [enzyme binding] GO:0030521 [androgen receptor signaling pathway] GO:0030529 [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:0043687 [post-translational protein modification] GO:0044212 [transcription regulatory region DNA binding] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] 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: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: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]
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
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 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: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:0006281 [DNA repair] GO:0006301 [postreplication repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006351 [transcription, DNA-templated] 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: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:0016874 [ligase activity] GO:0016925 [protein sumoylation] GO:0019899 [enzyme binding] GO:0030521 [androgen receptor signaling pathway] GO:0030529 [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:0043687 [post-translational protein modification] GO:0044212 [transcription regulatory region DNA binding] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] 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: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]
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
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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:0006281 [DNA repair] GO:0009048 [dosage compensation by inactivation of X chromosome] GO:0035067 [negative regulation of histone acetylation] GO:0043009 [chordate embryonic development]
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein A0A024R1V0 [Target identity:100%; Query identity:100%] Breast cancer 1, early onset, isoform CRA_d
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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 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: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:0006281 [DNA repair] GO:0006301 [postreplication repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006351 [transcription, DNA-templated] 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: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:0016874 [ligase activity] GO:0016925 [protein sumoylation] GO:0019899 [enzyme binding] GO:0030521 [androgen receptor signaling pathway] GO:0030529 [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:0043687 [post-translational protein modification] GO:0044212 [transcription regulatory region DNA binding] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] 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: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]
G1UI37 [Direct mapping] Breast cancer type 1 susceptibility protein
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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:0009048 [dosage compensation by inactivation of X chromosome] GO:0035067 [negative regulation of histone acetylation] GO:0043009 [chordate embryonic development]
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein A0A024R1Z8 [Target identity:100%; Query identity:100%] Breast cancer 1, early onset, isoform CRA_b
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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 Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex] GO:0000724 [double-strand break repair via homologous recombination] 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:0006281 [DNA repair] GO:0006301 [postreplication repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006351 [transcription, DNA-templated] 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: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:0016874 [ligase activity] GO:0016925 [protein sumoylation] GO:0019899 [enzyme binding] GO:0030521 [androgen receptor signaling pathway] GO:0030529 [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:0043687 [post-translational protein modification] GO:0044212 [transcription regulatory region DNA binding] GO:0044267 [cellular protein metabolic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] 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: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]