We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue/cell line enriched, group enriched, tissue/cell line enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for The Cancer Genome Atlas (TCGA) data from cancer tissues and internally generated Human Protein Atlas (HPA) data from normal tissues and cell lines.
Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.
Evidence at protein level
Protein expressioni
A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.
"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.
Nuclear and cytoplasmic expression in a fraction of cells in several tissues.
DATA RELIABILITY
Data reliability descriptioni
Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.
Antibody staining mainly consistent with RNA expression data.
Reliability scorei
Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.
Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page. Images of selected tissues give a visual summary of the protein expression profile furthest to the right. The gray human body provides links to a histology dictionary when clicking on any part of the figure.
RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.
Protein expression data is shown for each of the 44 tissues. The color-coding is based on tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types found in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview, however, all immunohistochemical images are still available and the annotation data can be found under Primary data.
Organ
Expression
Alphabetical
RNA EXPRESSION OVERVIEWi
RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.
HPA dataseti
HPA dataset RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.
RNA tissue category HPA HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataseti
GTEx dataset RNA-seq data are reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.
RNA tissue category GTEx GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataseti
FANTOM5 dataset Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.
RNA tissue category FANTOM5 FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GENE INFORMATIONi
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
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]
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
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
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: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
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]
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
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
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 (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]
