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Symbol BARD1 contributors: mct - updated : 01-02-2013
HGNC name BRCA1 associated RING domain 1
HGNC id 952
TYPE functioning gene
STRUCTURE 81.17 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
Physical map
ERBB4 2q34 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) LOC200595 2q35 similar to chromosome 20 open reading frame 81 ZNFN1A2 2qter zinc finger protein, subfamily 1A, 2 (Helios) PF20 2q35 PF20 LOC391481 2 similar to Alpha-endosulfine BARD1 2q34-q35 BRCA1 associated RING domain 1 LOC285176 2q35 similar to 60S ribosomal protein L10 (QM protein homolog) ABCA12 2q34 ATP-binding cassette, sub-family A (ABC1), member 12 ATIC 2q35 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase FN1 2q35 fibronectin 1 LOC151575 2q35 similar to MLRQ subunit of the NADH: ubiquinone oxidoreductase complex FLJ10116 2q35 hypothetical protein FLJ10116 PECR 2q35 hypothetical protein FLJ10116 LOC92691 2q35 hypothetical protein BC008604 XRCC5 2q35 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa) KIAA1399 2q35 KIAA1399 protein SMARCAL1 2q34-q36 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 RPL37A 2q35 ribosomal protein L37a LOC130700 2q35 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene IGFBP2 2q33-q34 insulin-like growth factor binding protein 2, 36kDa IGFBP5 2q33-q34 insulin-like growth factor binding protein 5 LOC391483 2 similar to ribosomal protein L31 TNP1 2q34-q36 transition protein 1 (during histone to protamine replacement) LOC151363 2q35 hypothetical LOC151363 TNS 2q35-q36 tensin FLJ46536 2q35 FLJ46536 protein IL8RB 2q35 interleukin 8 receptor, beta IL8RA 2q35 interleukin 8 receptor, alpha ARPC2 13q12-q13 actin related protein 2/3 complex, subunit 2, 34kDa GPBAR1 2q36.1 G protein-coupled bile acid receptor 1 AAMP 2q36.1 angio-associated, migratory cell protein MR-1 2q35 myofibrillogenesis regulator 1 PP1201 2p24.3-p24.1 PP1201 protein
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 4400 - 752 - 1996 8944023
11 - 2610 - 777 breast and ovarian cancer cell lines 2007 17497650
- - - - - - 2007 17497650
also called BARD1delta
- - - - - - 2007 17497650
also called deltaRIN
Type widely
   expressed in (based on citations)
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
  • 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
    interspecies homolog to murine Bard1
    CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    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
    small molecule
  • 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
    Other inducing BRCA1 intranuclear foci formation
    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
  • 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