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FLASH GENE
Symbol BARD1 contributors: mct - updated : 21-09-2022
HGNC name BRCA1 associated RING domain 1
HGNC id 952
Location 2q35      Physical location : 215.593.274 - 215.674.428
Synonym symbol(s) BAR1
EC.number 6.3.2.-/ 2.3.2.27
DNA
TYPE functioning gene
STRUCTURE 84.04 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence scaffold attachement regions/matrix attachement regions
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 5478 - 777 breast and ovarian cancer cell lines 2007 17497650
- - - - - - 2007 17497650
also called deltaRIN
6 - 4068 - 307 - -
BARD1 delta
10 - 5421 - 758 - -
variant alpha
5 - 3939 - 264 - -
variant epsilon
7 - 4125 - 326 - -
variant phi
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
Lymphoid/Immunelymph node   highly
Nervousnervecranial nerve  highly
cell lineage
cell lines breast and ovarian cancer cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one RING zinc finger domain at the N terminus
  • three tandem ankyrin repeats
  • a C terminal domain of homology with BRCA1 (BRCT)
  • two BRCT domains at the C terminus
  • a nuclear localization signal and a nuclear export signal
  • ankyrin and BRCT motifs are each essential for both chromosome stability and homology-directed repair
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Bard1
    Homologene
    FAMILY
    CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text increased cytoplasmic localization associated with apoptosis
    basic FUNCTION
  • potentially involved in DNA repair and tumor suppression, mediator of apoptosis
  • inducing with BRCA1 the formation of conjugated ubiquitin structures in cells during DNA replication and repair
  • required for S phase progression, contact inhibition and normal nuclear division
  • playing a dual role in response to genotoxic stress: DNA repair as a BARD1-BRCA1 heterodimer and induction of apoptosis in a BRCA1-independent manner
  • acting in conjunction with BRCA1 as ubiquitin ligase
  • complex BRCA1-BARD1 functions in the repair of DNA double-stranded breaks by homologous recombination
  • late role of BRCA1-BARD1 in homologous recombination, an attribute of the tumour suppressor complex that could be targeted in cancer therapy
  • BRCA1-BARD1 functions in DNA repair, replication fork maintenance and tumour suppression
  • function of BARD1 in centrosome regulation in cooperation with BRCA1/OLA1/RACK1
  • BRCA1-BARD1 complex directs the DNA double-strand break (DSB) repair pathway choice to error-free homologous recombination (HR) during the S-G2 stages
  • CELLULAR PROCESS cell life, proliferation/growth
    cell life, cell death/apoptosis
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer with BRCA1 complexing with the RNA polymerase II holoenzyme, containing a ubiquitin ligase activity important for prevention of breast and ovarian cancer
  • BRCA1/BARD1 heterodimer functioning as an E3 ubiquitin ligase that catalyzes the synthesis of polyubiquitin chains
  • required for S phase progression, contact inhibition and normal nuclear division
  • BRCA1/BARD1 may promote genome stability and tumor suppression through its involvement in other cellular processes, such as mitotic spindle assembly and cell cycle checkpoint control
  • OLA1 is a part of the BRCA1/BARD1/gamma-tubulin complex that is critically involved in centrosome amplification and microtubule aster formation
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CSTF1 and repressing nuclear mRNA polyadenylation (linking mRNA 3' end formation to DNA damage and tumor suppression)
  • RNA polymerase II holoenzyme
  • BRCA1 for mediating of protein ubiquitination
  • interaction with TP53( TP53 dependent role in apoptosis)
  • UBXN1 associates with autoubiquitinated BRCA1/BARD1 heterodimers in a bipartite manner (interaction between NR5A1 and BRCA1/BARD1 may recruit BRCA1/BARD1 complex to the aromatase PII promoter for BRCA1/BARD1-mediate transcriptional repression)
  • BRCA1/BARD1 complex interacts with NR5A1
  • BRCA1 functions depend on the interaction with BARD1 for its stability, nuclear localization and ubiquitin ligase activity
  • BRCA1 heterodimerizes with its partner protein, BARD1, via the RING domain present in both proteins
  • BRCA1 and BARD1 might have common as well as separate functions
  • both BRCA1 and BARD1 bind DNA and interact with RAD51, and BRCA1-BARD1 enhances the recombinase activity of RAD51
  • OLA1-BARD1 interaction is important for the regulation of centrosome number
  • regulation of BRCA1-BARD1 heterodimerization through SIRT2 deacetylation, elucidating a critical upstream signaling event directing BRCA1-BARD1 heterodimerization, which facilitates HR and tumor suppression
  • novel function of the BRCA1-BARD1 complex in the regulation of TOP2B and Pol II-mediated gene expression
  • BARD1 BRCT domain serves as an ATPase activating protein to control OLA1 allosterically
  • cell & other
    REGULATION
    Other inducing BRCA1 intranuclear foci formation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation      
    in breast and breast-ovarian cancers
    tumoral   deletion    
    homozygous deletion, in basal breast cancer
    tumoral germinal mutation     loss of function
    in patients with primary ovarian, fallopian tube, or peritoneal cancers
    Susceptibility
  • to breast cancer
  • to neuroblastoma
  • Variant & Polymorphism SNP , other
  • Val/Met 507 increasing the risk of breast cancer
  • Cys557Ser confers a slightly increased risk of breast cancer in women
  • rs6435862, rs3768716 significantly associated with high-risk neuroblastoma
  • Candidate gene
  • identification of BARD1 deletion could have clinical applications including screening for hereditary forms of breast cancer
  • Marker
    Therapy target
    ANIMAL & CELL MODELS