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BARD1

GENERAL INFORMATION

Gene name

 BARD1

Gene description

 BRCA1 associated RING domain 1

Protein class

 Cancer-related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

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

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Nuclear expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA044864 , CAB034106
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA044864
CAB034106

GENE INFORMATION

Gene name

 BARD1

Synonyms

Description

 BRCA1 associated RING domain 1 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 2

Cytoband

 q35

Chromosome location (bp)

 214725646 - 214809711

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000138376 (version 83.38)

Entrez gene

 580

UniProt

 Q99728 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99728

Antibodypedia

 BARD1 antibodies

PROTEIN BROWSER
BARD1-001
BARD1-004
BARD1-005
BARD1-201
BARD1-202
BARD1-203
BARD1-204
BARD1-205
BARD1-206

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BARD1-001
ENSP00000260947
ENST00000260947
Q99728 [Direct mapping]
BRCA1-associated RING domain protein 1
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Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver 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:0001894 [tissue homeostasis]
GO:0003723 [RNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007050 [cell cycle arrest]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0016874 [ligase activity]
GO:0019900 [kinase binding]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031441 [negative regulation of mRNA 3'-end processing]
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:0043231 [intracellular membrane-bounded organelle]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0045732 [positive regulation of protein catabolic process]
GO:0046826 [negative regulation of protein export from nucleus]
GO:0046982 [protein heterodimerization activity]
GO:0070531 [BRCA1-A complex]
GO:0085020 [protein K6-linked ubiquitination]
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 777 aa
86.6 kDa 		No 0
BARD1-004
ENSP00000405020
ENST00000432456
C9J6M1 [Direct mapping]
BRCA1-associated RING domain protein 1
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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 44 aa
5.3 kDa 		No 0
BARD1-005
ENSP00000392245
ENST00000421162
C9IYG1 [Direct mapping]
BRCA1-associated RING domain protein 1
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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 216 aa
24.4 kDa 		No 0
BARD1-201
ENSP00000483275
ENST00000613192
A0A087X0C6 [Direct mapping]
BRCA1-associated RING domain protein 1
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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 167 aa
19.2 kDa 		No 0
BARD1-202
ENSP00000484464
ENST00000613374
F6MDI1 [Direct mapping]
BRCA1 associated RING domain 1 isoform delta; BRCA1-associated RING domain protein 1
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Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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 307 aa
35.1 kDa 		No 0
BARD1-203
ENSP00000484976
ENST00000613706
A0A087X2H0 [Direct mapping]
BRCA1-associated RING domain protein 1
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
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 326 aa
37.1 kDa 		No 0
BARD1-204
ENSP00000480470
ENST00000617164
Q99728 [Direct mapping]
BRCA1-associated RING domain protein 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
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:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007050 [cell cycle arrest]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0016874 [ligase activity]
GO:0019900 [kinase binding]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031441 [negative regulation of mRNA 3'-end processing]
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:0043231 [intracellular membrane-bounded organelle]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0045732 [positive regulation of protein catabolic process]
GO:0046826 [negative regulation of protein export from nucleus]
GO:0046982 [protein heterodimerization activity]
GO:0070531 [BRCA1-A complex]
GO:0085020 [protein K6-linked ubiquitination]
Show all
 758 aa
84.6 kDa 		No 0
BARD1-205
ENSP00000482293
ENST00000619009
A0A087WZ19 [Direct mapping]
BRCA1-associated RING domain protein 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0008270 [zinc ion binding]
Show all
 264 aa
30.4 kDa 		No 0
BARD1-206
ENSP00000481988
ENST00000620057
Q99728 [Direct mapping]
BRCA1-associated RING domain protein 1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151 [ubiquitin ligase complex]
GO:0000724 [double-strand break repair via homologous recombination]
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:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007050 [cell cycle arrest]
GO:0008270 [zinc ion binding]
GO:0016567 [protein ubiquitination]
GO:0016874 [ligase activity]
GO:0019900 [kinase binding]
GO:0031436 [BRCA1-BARD1 complex]
GO:0031441 [negative regulation of mRNA 3'-end processing]
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:0043231 [intracellular membrane-bounded organelle]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0045732 [positive regulation of protein catabolic process]
GO:0046826 [negative regulation of protein export from nucleus]
GO:0046982 [protein heterodimerization activity]
GO:0070531 [BRCA1-A complex]
GO:0085020 [protein K6-linked ubiquitination]
Show all
 127 aa
14.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.