We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins
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
2
Cytoband
q35
Chromosome location (bp)
214725646 - 214809683
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Ubl conjugation pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q99728 [Direct mapping] BRCA1-associated RING domain protein 1
Show all
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs 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:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0001894[tissue homeostasis] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0016567[protein ubiquitination] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0019900[kinase binding] GO:0031436[BRCA1-BARD1 complex] GO:0031441[negative regulation of mRNA 3'-end processing] GO:0033554[cellular response to stress] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0042325[regulation of phosphorylation] GO:0042803[protein homodimerization activity] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0044818[mitotic G2/M transition checkpoint] GO:0045732[positive regulation of protein catabolic process] GO:0045786[negative regulation of cell cycle] GO:0046826[negative regulation of protein export from nucleus] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071479[cellular response to ionizing radiation] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:2000001[regulation of DNA damage checkpoint]
C9IYG1 [Direct mapping] BRCA1-associated RING domain protein 1
Show all
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Protein evidence (Ezkurdia et al 2014)
C9J6M1 [Direct mapping] BRCA1-associated RING domain protein 1
Show all
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Protein evidence (Ezkurdia et al 2014)
F6MDI1 [Direct mapping] BRCA1 associated RING domain 1 isoform delta; BRCA1-associated RING domain protein 1
Show all
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Protein evidence (Ezkurdia et al 2014)
A0A087X2H0 [Direct mapping] BRCA1-associated RING domain protein 1
Show all
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Protein evidence (Ezkurdia et al 2014)
Q99728 [Direct mapping] BRCA1-associated RING domain protein 1
Show all
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0001894[tissue homeostasis] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0016567[protein ubiquitination] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0019900[kinase binding] GO:0031436[BRCA1-BARD1 complex] GO:0031441[negative regulation of mRNA 3'-end processing] GO:0033554[cellular response to stress] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0042325[regulation of phosphorylation] GO:0042803[protein homodimerization activity] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0044818[mitotic G2/M transition checkpoint] GO:0045732[positive regulation of protein catabolic process] GO:0045786[negative regulation of cell cycle] GO:0046826[negative regulation of protein export from nucleus] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071479[cellular response to ionizing radiation] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:2000001[regulation of DNA damage checkpoint]
A0A087WZ19 [Direct mapping] BRCA1-associated RING domain protein 1
Show all
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Protein evidence (Ezkurdia et al 2014)
Q99728 [Direct mapping] BRCA1-associated RING domain protein 1
Show all
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0001894[tissue homeostasis] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0016567[protein ubiquitination] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0019900[kinase binding] GO:0031436[BRCA1-BARD1 complex] GO:0031441[negative regulation of mRNA 3'-end processing] GO:0033554[cellular response to stress] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0042325[regulation of phosphorylation] GO:0042803[protein homodimerization activity] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0044818[mitotic G2/M transition checkpoint] GO:0045732[positive regulation of protein catabolic process] GO:0045786[negative regulation of cell cycle] GO:0046826[negative regulation of protein export from nucleus] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071479[cellular response to ionizing radiation] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:2000001[regulation of DNA damage checkpoint]
The Human Protein Atlas project is funded
