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Aliases for BARD1 Gene

Aliases for BARD1 Gene

  • BRCA1 Associated RING Domain 1 2 3 5
  • EC 6.3.2.- 4
  • BARD-1 4

External Ids for BARD1 Gene

Previous GeneCards Identifiers for BARD1 Gene

  • GC02M213755
  • GC02M214317
  • GC02M215556
  • GC02M215795
  • GC02M215418
  • GC02M215301
  • GC02M207449

Summaries for BARD1 Gene

Entrez Gene Summary for BARD1 Gene

  • 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]

GeneCards Summary for BARD1 Gene

BARD1 (BRCA1 Associated RING Domain 1) is a Protein Coding gene. Diseases associated with BARD1 include Breast Cancer and Bard1-Related Susceptibility To Breast Cancer. Among its related pathways are Cell Cycle Checkpoints and Prostate Cancer. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is BCORL1.

UniProtKB/Swiss-Prot for BARD1 Gene

  • Probable 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.

Gene Wiki entry for BARD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BARD1 Gene

Genomics for BARD1 Gene

Regulatory Elements for BARD1 Gene

Enhancers for BARD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BARD1 on UCSC Golden Path with GeneCards custom track

Promoters for BARD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BARD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BARD1 Gene

Chromosome:
2
Start:
214,725,646 bp from pter
End:
214,809,711 bp from pter
Size:
84,066 bases
Orientation:
Minus strand

Genomic View for BARD1 Gene

Genes around BARD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BARD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BARD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BARD1 Gene

Proteins for BARD1 Gene

  • Protein details for BARD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99728-BARD1_HUMAN
    Recommended name:
    BRCA1-associated RING domain protein 1
    Protein Accession:
    Q99728
    Secondary Accessions:
    • F6MDH7
    • F6MDH8
    • F6MDH9
    • O43574
    • Q53SS5

    Protein attributes for BARD1 Gene

    Size:
    777 amino acids
    Molecular mass:
    86648 Da
    Quaternary structure:
    • Homo- and heterodimer. Heterodimer (RING-type zinc finger) with BRCA1. Heterodimer (via ANK repeats and BRCT domains) with CSTF1/CSTF-50. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. Interacts with UBXN1.

    Three dimensional structures from OCA and Proteopedia for BARD1 Gene

    Alternative splice isoforms for BARD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BARD1 Gene

Proteomics data for BARD1 Gene at MOPED

Post-translational modifications for BARD1 Gene

  • Processed during apoptosis. The homodimer is more susceptible to proteolytic cleavage than the BARD1/BRCA1 heterodimer.
  • Ubiquitination at Lys 110, Lys 160, and Lys 423
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BARD1 Gene

Domains & Families for BARD1 Gene

Gene Families for BARD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99728

UniProtKB/Swiss-Prot:

BARD1_HUMAN :
  • Contains 2 BRCT domains.
  • Contains 4 ANK repeats.
Domain:
  • Contains 2 BRCT domains.
Similarity:
  • Contains 4 ANK repeats.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with BARD1: view

Function for BARD1 Gene

Molecular function for BARD1 Gene

GENATLAS Biochemistry:
BRCA1 associated RING domain (BARD1) protein,potentially involved in DNA repair and/or transcriptional activation
UniProtKB/Swiss-Prot Function:
Probable 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.

Enzyme Numbers (IUBMB) for BARD1 Gene

Gene Ontology (GO) - Molecular Function for BARD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 12419249
GO:0019900 kinase binding NAS 15782130
GO:0042803 protein homodimerization activity IPI 15265711
genes like me logo Genes that share ontologies with BARD1: view
genes like me logo Genes that share phenotypes with BARD1: view

Human Phenotype Ontology for BARD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BARD1 Gene

MGI Knock Outs for BARD1:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for BARD1 Gene

Localization for BARD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BARD1 Gene

Nucleus. Note=During S phase of the cell cycle, colocalizes with BRCA1 into discrete subnuclear foci. Can translocate to the cytoplasm. Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BARD1 Gene COMPARTMENTS Subcellular localization image for BARD1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for BARD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex NAS 14976165
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15265711
genes like me logo Genes that share ontologies with BARD1: view

Pathways & Interactions for BARD1 Gene

genes like me logo Genes that share pathways with BARD1: view

UniProtKB/Swiss-Prot Q99728-BARD1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for BARD1 Gene

Activates:

Gene Ontology (GO) - Biological Process for BARD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing TAS --
GO:0000732 strand displacement TAS --
GO:0001894 tissue homeostasis TAS 15782130
GO:0006260 DNA replication TAS --
genes like me logo Genes that share ontologies with BARD1: view

Drugs & Compounds for BARD1 Gene

(1) Drugs for BARD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BARD1: view

Transcripts for BARD1 Gene

Unigene Clusters for BARD1 Gene

BRCA1 associated RING domain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BARD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - - -
SP2: -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for BARD1 Gene

GeneLoc Exon Structure for
BARD1
ECgene alternative splicing isoforms for
BARD1

Expression for BARD1 Gene

mRNA expression in normal human tissues for BARD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BARD1 Gene

This gene is overexpressed in NK cells (53.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BARD1 Gene



SOURCE GeneReport for Unigene cluster for BARD1 Gene Hs.591642

genes like me logo Genes that share expression patterns with BARD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for BARD1 Gene

Orthologs for BARD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BARD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BARD1 35
  • 86.62 (n)
  • 83.79 (a)
BARD1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BARD1 35
  • 85.23 (n)
  • 82.52 (a)
BARD1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bard1 35
  • 78.83 (n)
  • 71.26 (a)
Bard1 16
Bard1 36
  • 71 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BARD1 35
  • 99.61 (n)
  • 99.49 (a)
BARD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bard1 35
  • 77.68 (n)
  • 69.86 (a)
oppossum
(Monodelphis domestica)
Mammalia BARD1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BARD1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves BARD1 35
  • 62.19 (n)
  • 55.62 (a)
BARD1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BARD1 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bard1 35
  • 58.13 (n)
  • 53.45 (a)
African clawed frog
(Xenopus laevis)
Amphibia BARD1 35
zebrafish
(Danio rerio)
Actinopterygii LOC100147913 35
  • 48.08 (n)
  • 41.63 (a)
bard1 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10984 36
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for BARD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BARD1 Gene

ENSEMBL:
Gene Tree for BARD1 (if available)
TreeFam:
Gene Tree for BARD1 (if available)

Paralogs for BARD1 Gene

Paralogs for BARD1 Gene

genes like me logo Genes that share paralogs with BARD1: view

Variants for BARD1 Gene

Sequence variations from dbSNP and Humsavar for BARD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_010354 -
VAR_010355 -
rs2070094 - 214,767,531(-) GGCAT(A/G)TGGAT intron-variant, nc-transcript-variant, reference, missense
rs28997576 - 214,752,454(-) CCACT(A/C/G)CTCAG intron-variant, nc-transcript-variant, reference, missense
VAR_010358 An ovarian clear cell adenocarcinoma

Structural Variations from Database of Genomic Variants (DGV) for BARD1 Gene

Variant ID Type Subtype PubMed ID
esv2658008 CNV Deletion 23128226
nsv821897 CNV Loss 20364138
nsv875832 CNV Gain 21882294
esv2661707 CNV Deletion 23128226

Variation tolerance for BARD1 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.91; 95.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BARD1 Gene

Human Gene Mutation Database (HGMD)
BARD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BARD1 Gene

Disorders for BARD1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BARD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, invasive ductal
bard1-related susceptibility to breast cancer
neuroblastoma, susceptibility
ovarian cancer
  • malignant ovarian tumor
hereditary breast ovarian cancer
  • breast/ovarian cancer, hereditary
- elite association - COSMIC cancer census association via MalaCards
Search BARD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BARD1

Genetic Association Database (GAD)
BARD1
Human Genome Epidemiology (HuGE) Navigator
BARD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BARD1
genes like me logo Genes that share disorders with BARD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BARD1 Gene

Publications for BARD1 Gene

  1. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. (PMID: 9425226) Thai T.H. … Bowcock A.M. (Hum. Mol. Genet. 1998) 2 3 4 48 67
  2. BRCA1-BARD1 complexes are required for p53Ser-15 phosphorylation and a G1/S arrest following ionizing radiation-induced DNA damage. (PMID: 15159397) Fabbro M. … Khanna K.K. (J. Biol. Chem. 2004) 2 3 23
  3. Differential modulation of BRCA1 and BARD1 nuclear localisation and foci assembly by DNA damage. (PMID: 19796682) Brodie K.M. … Henderson B.R. (Cell. Signal. 2010) 3 23
  4. BRCA1/BARD1 E3 ubiquitin ligase can modify histones H2A and H2B in the nucleosome particle. (PMID: 19916563) Thakar A. … Zlatanova J. (J. Biomol. Struct. Dyn. 2010) 3 23
  5. Negative feedback loop of BRCA1-BARD1 ubiquitin ligase on estrogen receptor alpha stability and activity antagonized by cancer-associated isoform of BARD1. (PMID: 20060929) Dizin E. … Irminger-Finger I. (Int. J. Biochem. Cell Biol. 2010) 3 23

Products for BARD1 Gene

Sources for BARD1 Gene

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