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FLASH GENE
Symbol BARD1 contributors: mct - updated : 01-02-2013
HGNC name BRCA1 associated RING domain 1
HGNC id 952
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
    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
  • 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
  • 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
  • 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