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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
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BRCA1
  • TISSUE

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PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary

Level of antibody staining/expression





High
Medium
Low
Not detected

GENERAL INFORMATION

Gene namei

Gene name according to HGNC.

BRCA1

Gene descriptioni

Gene description according to HGNC.

Breast cancer 1, early onset

Protein classi

Protein class the gene product belongs to according to selected gene lists. List of protein classes.

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localizationi

Protein localization predicted from several bioinformatic algorithms.

Read more

Intracellular

Number of transcriptsi

Number of protein-coding transcribed from this gene as defined by Ensembl.

24
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA categoryi

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.

TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Mixed

Protein evidencei

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 expression
normal tissuei

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.

Read more

Nuclear and cytoplasmic expression in a fraction of cells in several tissues.

ANTIBODY IHC 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.

Read more

Approved based on 2 antibodies.
HPA034966 , CAB001946
SHOW MORE

PROGNOSTIC SUMMARYi

Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.

Gene product is not prognostic.
Show all

RNA EXPRESSION OVERVIEWi

RNA expression overview shows RNA-seq data from The Cancer Genome Atlas (TCGA).

TCGA dataseti
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name.

Read more
RNA cancer category: Expressed in all

PROTEIN EXPRESSIONi

Antibody staining in 20 different cancers is summarized by a selection of four standard cancer tissue samples representative of the overall staining pattern. From left: colorectal cancer, breast cancer, prostate cancer and lung cancer. An additional fifth image can be added as a complement. The assay and annotation is described here. Note that samples used for immunohistochemistry by the Human Protein Atlas do not correspond to samples in the TCGA dataset.

For histological reference, visit the histological dictionary.

Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Testis cancer

STAINING SUMMARYi

For each cancer, the fraction of samples with protein expression level high, medium, low, or not detected are provided by the blue-scale color-coding (as described by the color-coding scale in the box to the left). The length of the bar represents the number of patient samples analyzed (max=12 patients). The images and annotations can be accessed by clicking on the cancer name or protein expression bar. If more than one antibody is analyzed, the tabs at the top of the staining summary section can be used to toggle between the different antibodies. The mouse-over function displays additional data for the features in the staining summary view.

Next to the cancer staining data, the protein expression data of normal tissues or specific cell types corresponding to each cancer are shown and protein expression levels are indicated by the blue-scale color coding.

HPA034966
CAB001946

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summaryi

A manually written summary of the overall protein expression pattern across the analyzed cancer tissues.

Strong nuclear and cytoplasmic staining in cancer cells.

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summaryi

A manually written summary of the overall protein expression pattern across the analyzed cancer tissues.

Most cancer cells showed weak to moderate nuclear positivity. A fraction of cells in a few cases of breast and cervical cancers were strongly stained.

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]

Chromosome

17

Cytoband

q21.31

Chromosome location (bp)

43044295 - 43170245

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000012048 (version 83.38)

Entrez gene

672

UniProt

P38398 (UniProt - Evidence at protein level)

neXtProt

NX_P38398

Antibodypedia

BRCA1 antibodies

PROTEIN BROWSERi

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.

«
BRCA1-001
BRCA1-003
BRCA1-004
BRCA1-005
BRCA1-006
BRCA1-007
BRCA1-008
BRCA1-009
BRCA1-011
BRCA1-012
BRCA1-013
BRCA1-014
BRCA1-015
BRCA1-016
BRCA1-017
BRCA1-018
BRCA1-019
BRCA1-022
BRCA1-023
BRCA1-024
BRCA1-025
BRCA1-027
BRCA1-029
BRCA1-030
»

PROTEIN INFORMATIONi

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.

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BRCA1-001
ENSP00000350283
ENST00000357654
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
   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]
Show all
1863 aa
207.7 kDa
No 0
BRCA1-003
ENSP00000418986
ENST00000497488
C9IZW4 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
177 aa
20 kDa
No 0
BRCA1-004
ENSP00000419988
ENST00000477152
E9PH68 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016567 [protein ubiquitination]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
GO:0046872 [metal ion binding]
Show all
622 aa
70 kDa
No 0
BRCA1-005
ENSP00000418960
ENST00000471181
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
   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]
Show all
1884 aa
210.3 kDa
No 0
BRCA1-006
ENSP00000418775
ENST00000493795
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]
Show all
1816 aa
202.3 kDa
No 0
BRCA1-007
ENSP00000417148
ENST00000468300
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]
Show all
699 aa
78.2 kDa
No 0
BRCA1-008
ENSP00000418819
ENST00000493919
B7ZA85 [Direct mapping]
Breast cancer type 1 susceptibility protein; cDNA, FLJ79099, highly similar to Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant BRCA1-delta 11b, mRNA
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
572 aa
63.6 kDa
No 0
BRCA1-009
ENSP00000420412
ENST00000478531
E7EUM2 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
GO:0046872 [metal ion binding]
Show all
623 aa
69.5 kDa
No 0
BRCA1-011
ENSP00000419274
ENST00000470026
E7EWN5 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016567 [protein ubiquitination]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
GO:0046872 [metal ion binding]
Show all
649 aa
73.1 kDa
No 0
BRCA1-012
ENSP00000326002
ENST00000354071
Q5YLB2 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005694 [chromosome]
GO:0006281 [DNA repair]
GO:0006310 [DNA recombination]
GO:0007049 [cell cycle]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016874 [ligase activity]
GO:0031436 [BRCA1-BARD1 complex]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
GO:0046872 [metal ion binding]
GO:0051865 [protein autoubiquitination]
GO:0085020 [protein K6-linked ubiquitination]
Show all
1399 aa
156.3 kDa
No 0
BRCA1-013
ENSP00000419103
ENST00000494123
Q3B891 [Direct mapping]
BRCA1 protein; Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016567 [protein ubiquitination]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
GO:0046872 [metal ion binding]
Show all
473 aa
53.4 kDa
No 0
BRCA1-014
ENSP00000420705
ENST00000491747
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
A0A024R1V0 [Target identity:100%; Query identity:100%]
Breast cancer 1, early onset, isoform CRA_d
Show all
   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]
Show all
759 aa
85 kDa
No 0
BRCA1-015
ENSP00000419481
ENST00000484087
H0Y8B8 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016567 [protein ubiquitination]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
498 aa
55.5 kDa
No 0
BRCA1-016
ENSP00000420781
ENST00000489037
E7ENB7 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
98 aa
11.2 kDa
No 0
BRCA1-017
ENSP00000417554
ENST00000476777
E7EQW4 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016567 [protein ubiquitination]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
GO:0046872 [metal ion binding]
Show all
222 aa
25.1 kDa
No 0
BRCA1-018
ENSP00000420201
ENST00000473961
H0Y8D8 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
319 aa
35.9 kDa
No 0
BRCA1-019
ENSP00000418212
ENST00000487825
H0Y881 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
266 aa
29.5 kDa
No 0
BRCA1-022
ENSP00000417241
ENST00000461574
H0Y850 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
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]
Show all
242 aa
26.3 kDa
No 0
BRCA1-023
ENSP00000465818
ENST00000586385
C6YB45 [Direct mapping]
BRCA1 isoform E1aA-∆2-17; Breast cancer type 1 susceptibility protein
Show all
   Phobius predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016021 [integral component of membrane]
GO:0016567 [protein ubiquitination]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
173 aa
19.8 kDa
No 0
BRCA1-024
ENSP00000467329
ENST00000591534
K7EPC7 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005634 [nucleus]
GO:0006281 [DNA repair]
GO:0008270 [zinc ion binding]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0016567 [protein ubiquitination]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
354 aa
39.8 kDa
No 0
BRCA1-025
ENSP00000465347
ENST00000591849
K7EJW3 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
96 aa
10.9 kDa
No 0
BRCA1-027
ENSP00000478114
ENST00000618469
G1UI37 [Direct mapping]
Breast cancer type 1 susceptibility protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0009048 [dosage compensation by inactivation of X chromosome]
GO:0035067 [negative regulation of histone acetylation]
GO:0043009 [chordate embryonic development]
Show all
23 aa
2.6 kDa
No 0
BRCA1-029
ENSP00000312236
ENST00000352993
P38398 [Direct mapping]
Breast cancer type 1 susceptibility protein
A0A024R1Z8 [Target identity:100%; Query identity:100%]
Breast cancer 1, early onset, isoform CRA_b
Show all
   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]
Show all
721 aa
80.6 kDa
No 0
BRCA1-030
ENSP00000489431
ENST00000634433
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:0005515 [protein binding]
GO:0008270 [zinc ion binding]
GO:0046872 [metal ion binding]
Show all
798 aa
89.8 kDa
No 0

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