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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Cancer-related genes Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
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.
Chromosome
17
Cytoband
q21.31
Chromosome location (bp)
43044295 - 43170245
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
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.
Below 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). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (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 A0A024R1Z8 [Target identity:100%; Query identity:100%] Breast cancer type 1 susceptibility protein
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000151 [ubiquitin ligase complex] GO:0000724 [double-strand break repair via homologous recombination] GO:0000729 [DNA double-strand break processing] GO:0000800 [lateral element] GO:0000976 [transcription regulatory region sequence-specific DNA binding] 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:0006357 [regulation of transcription by RNA polymerase II] GO:0006359 [regulation of transcription by RNA polymerase III] 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:0016604 [nuclear body] GO:0016740 [transferase activity] GO:0019899 [enzyme binding] GO:0031398 [positive regulation of protein ubiquitination] GO:0031436 [BRCA1-BARD1 complex] GO:0031625 [ubiquitin protein ligase binding] GO:0032991 [protein-containing complex] 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 population proliferation] GO:0042802 [identical protein binding] GO:0042981 [regulation of apoptotic process] GO:0043009 [chordate embryonic development] GO:0043627 [response to estrogen] 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 by RNA polymerase II] GO:0046600 [negative regulation of centriole replication] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0051865 [protein autoubiquitination] GO:0070063 [RNA polymerase binding] GO:0070317 [negative regulation of G0 to G1 transition] 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:0072425 [signal transduction involved in G2 DNA damage checkpoint] 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:1990904 [ribonucleoprotein complex] 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]
Q5YLB2 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000151 [ubiquitin ligase complex] GO:0000724 [double-strand break repair via homologous recombination] GO:0000729 [DNA double-strand break processing] GO:0000800 [lateral element] GO:0000976 [transcription regulatory region sequence-specific DNA binding] 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:0006357 [regulation of transcription by RNA polymerase II] GO:0006359 [regulation of transcription by RNA polymerase III] 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:0016604 [nuclear body] GO:0016740 [transferase activity] GO:0019899 [enzyme binding] GO:0031398 [positive regulation of protein ubiquitination] GO:0031436 [BRCA1-BARD1 complex] GO:0031625 [ubiquitin protein ligase binding] GO:0032991 [protein-containing complex] 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 population proliferation] GO:0042802 [identical protein binding] GO:0042981 [regulation of apoptotic process] GO:0043009 [chordate embryonic development] GO:0043627 [response to estrogen] 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 by RNA polymerase II] GO:0046600 [negative regulation of centriole replication] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0051865 [protein autoubiquitination] GO:0070063 [RNA polymerase binding] GO:0070317 [negative regulation of G0 to G1 transition] 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:0072425 [signal transduction involved in G2 DNA damage checkpoint] 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:1990904 [ribonucleoprotein complex] 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]
H0Y850 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level 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:0000800 [lateral element] GO:0000976 [transcription regulatory region sequence-specific DNA binding] 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:0006357 [regulation of transcription by RNA polymerase II] GO:0006359 [regulation of transcription by RNA polymerase III] 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:0016604 [nuclear body] GO:0016740 [transferase activity] GO:0019899 [enzyme binding] GO:0031398 [positive regulation of protein ubiquitination] GO:0031436 [BRCA1-BARD1 complex] GO:0031625 [ubiquitin protein ligase binding] GO:0032991 [protein-containing complex] 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 population proliferation] GO:0042802 [identical protein binding] GO:0042981 [regulation of apoptotic process] GO:0043009 [chordate embryonic development] GO:0043627 [response to estrogen] 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 by RNA polymerase II] GO:0046600 [negative regulation of centriole replication] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0051865 [protein autoubiquitination] GO:0070063 [RNA polymerase binding] GO:0070317 [negative regulation of G0 to G1 transition] 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:0072425 [signal transduction involved in G2 DNA damage checkpoint] 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:1990904 [ribonucleoprotein complex] 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]
E7EWN5 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level 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:0000793 [condensed chromosome] GO:0000794 [condensed nuclear chromosome] GO:0000800 [lateral element] GO:0000976 [transcription regulatory region sequence-specific DNA binding] 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:0006357 [regulation of transcription by RNA polymerase II] GO:0006359 [regulation of transcription by RNA polymerase III] 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:0016604 [nuclear body] GO:0016740 [transferase activity] GO:0019899 [enzyme binding] GO:0031398 [positive regulation of protein ubiquitination] GO:0031436 [BRCA1-BARD1 complex] GO:0031625 [ubiquitin protein ligase binding] GO:0032991 [protein-containing complex] 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 population proliferation] GO:0042802 [identical protein binding] GO:0042981 [regulation of apoptotic process] GO:0043009 [chordate embryonic development] GO:0043627 [response to estrogen] GO:0044030 [regulation of DNA methylation] GO:0044818 [mitotic G2/M transition checkpoint] 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 by RNA polymerase II] GO:0046600 [negative regulation of centriole replication] GO:0046872 [metal ion 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:0070063 [RNA polymerase binding] GO:0070317 [negative regulation of G0 to G1 transition] 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:0072425 [signal transduction involved in G2 DNA damage checkpoint] 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:1990904 [ribonucleoprotein complex] 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]
H0Y8D8 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
E7EQW4 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
E9PH68 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
H0Y8B8 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
H0Y881 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
E7ENB7 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein A0A024R1V0 [Target identity:100%; Query identity:100%] Breast cancer type 1 susceptibility protein
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000151 [ubiquitin ligase complex] GO:0000724 [double-strand break repair via homologous recombination] GO:0000729 [DNA double-strand break processing] GO:0000800 [lateral element] GO:0000976 [transcription regulatory region sequence-specific DNA binding] 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:0006357 [regulation of transcription by RNA polymerase II] GO:0006359 [regulation of transcription by RNA polymerase III] 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:0016604 [nuclear body] GO:0016740 [transferase activity] GO:0019899 [enzyme binding] GO:0031398 [positive regulation of protein ubiquitination] GO:0031436 [BRCA1-BARD1 complex] GO:0031625 [ubiquitin protein ligase binding] GO:0032991 [protein-containing complex] 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 population proliferation] GO:0042802 [identical protein binding] GO:0042981 [regulation of apoptotic process] GO:0043009 [chordate embryonic development] GO:0043627 [response to estrogen] 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 by RNA polymerase II] GO:0046600 [negative regulation of centriole replication] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0051865 [protein autoubiquitination] GO:0070063 [RNA polymerase binding] GO:0070317 [negative regulation of G0 to G1 transition] 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:0072425 [signal transduction involved in G2 DNA damage checkpoint] 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:1990904 [ribonucleoprotein complex] 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
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level 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:0000800 [lateral element] GO:0000976 [transcription regulatory region sequence-specific DNA binding] 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:0006357 [regulation of transcription by RNA polymerase II] GO:0006359 [regulation of transcription by RNA polymerase III] 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:0016604 [nuclear body] GO:0016740 [transferase activity] GO:0019899 [enzyme binding] GO:0031398 [positive regulation of protein ubiquitination] GO:0031436 [BRCA1-BARD1 complex] GO:0031625 [ubiquitin protein ligase binding] GO:0032991 [protein-containing complex] 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 population proliferation] GO:0042802 [identical protein binding] GO:0042981 [regulation of apoptotic process] GO:0043009 [chordate embryonic development] GO:0043627 [response to estrogen] 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 by RNA polymerase II] GO:0046600 [negative regulation of centriole replication] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0051865 [protein autoubiquitination] GO:0070063 [RNA polymerase binding] GO:0070317 [negative regulation of G0 to G1 transition] 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:0072425 [signal transduction involved in G2 DNA damage checkpoint] 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:1990904 [ribonucleoprotein complex] 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 Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Q3B891 [Direct mapping] BRCA1 protein; Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
C9IZW4 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
C6YB45 [Direct mapping] BRCA1 isoform E1aA-Delta 2-17; Breast cancer type 1 susceptibility protein
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Phobius predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
K7EPC7 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
K7EJW3 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
G1UI37 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A0U1RRA9 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A2R8Y7V5 [Direct mapping] Breast cancer type 1 susceptibility protein
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Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A2R8Y587 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A494C182 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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 Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
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