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    BARD1 BRCA1 associated RING domain 1 [ Homo sapiens (human) ]

    Gene ID: 580, updated on 3-Dec-2024

    Summary

    Official Symbol
    BARD1provided by HGNC
    Official Full Name
    BRCA1 associated RING domain 1provided by HGNC
    Primary source
    HGNC:HGNC:952
    See related
    Ensembl:ENSG00000138376 MIM:601593; AllianceGenome:HGNC:952
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Broad expression in testis (RPKM 4.0), bone marrow (RPKM 3.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BARD1 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (214725646..214809683, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (215210222..215294294, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215590370..215674407, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene von Willebrand factor C domain containing 2 like Neighboring gene VWC2L intronic transcript 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:215458325-215458965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17071 Neighboring gene endosulfine alpha pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:215667579-215668122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12296 Neighboring gene small nucleolar RNA host gene 31 Neighboring gene small nucleolar RNA, H/ACA box 70I Neighboring gene ribosomal protein L10 pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-05-01)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-05-01)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
    EBI GWAS Catalog
    Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
    EBI GWAS Catalog
    Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of BRCA1 associated RING domain 1 (BARD1) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA damage response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in DNA strand resection involved in replication fork processing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to ionizing radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in homologous recombination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitotic G2/M transition checkpoint NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of mRNA 3'-end processing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein K6-linked ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein K6-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of DNA damage checkpoint NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in tissue homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of BRCA1-A complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BRCA1-A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BRCA1-A complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of BRCA1-B complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of BRCA1-BARD1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BRCA1-BARD1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BRCA1-BARD1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of BRCA1-C complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    part_of nuclear ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    BRCA1-associated RING domain protein 1
    Names
    BRCA1-associated RING domain gene 1
    RING-type E3 ubiquitin transferase BARD1
    NP_000456.2
    NP_001269472.1
    NP_001269474.1
    NP_001269477.1
    NP_001269478.1
    XP_016860102.1
    XP_016860103.1
    XP_047301306.1
    XP_054199215.1
    XP_054199216.1
    XP_054199217.1
    XP_054199218.1
    XP_054199219.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012047.3 RefSeqGene

      Range
      5029..89066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_297

    mRNA and Protein(s)

    1. NM_000465.4NP_000456.2  BRCA1-associated RING domain protein 1 isoform 1

      See identical proteins and their annotated locations for NP_000456.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC016708, BC126426, BC126428, BU753556, BX098964, DB088853
      Consensus CDS
      CCDS2397.1
      UniProtKB/Swiss-Prot
      F6MDH7, F6MDH8, F6MDH9, O43574, Q53SS5, Q99728
      UniProtKB/TrEMBL
      A0AVN2, B2RAM8
      Related
      ENSP00000260947.4, ENST00000260947.9
      Conserved Domains (6) summary
      smart00292
      Location:669767
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:568641
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00204
      Location:424544
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:432524
      Ank_2; Ankyrin repeats (3 copies)
      pfam14835
      Location:41105
      zf-RING_6; zf-RING of BARD1-type protein
      sd00045
      Location:427458
      ANK; ANK repeat [structural motif]
    2. NM_001282543.2NP_001269472.1  BRCA1-associated RING domain protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2, also known as alpha) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790280
      Consensus CDS
      CCDS74646.1
      UniProtKB/TrEMBL
      A0AVN2, B2RAM8
      Related
      ENSP00000480470.1, ENST00000617164.5
      Conserved Domains (6) summary
      smart00292
      Location:650748
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:549622
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cd00204
      Location:405525
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:413505
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:408439
      ANK; ANK repeat [structural motif]
      cl17238
      Location:4186
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    3. NM_001282545.2NP_001269474.1  BRCA1-associated RING domain protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks four consecutive exons in the coding region, compared to variant 1. The resulting isoform (3, also known as phi) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC016708, BU753556, DB088853, JF790283
      Consensus CDS
      CCDS74647.1
      UniProtKB/TrEMBL
      C9IYG1, F6MDI0
      Related
      ENSP00000392245.2, ENST00000421162.2
      Conserved Domains (3) summary
      smart00292
      Location:218316
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:117190
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cl17238
      Location:4173
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    4. NM_001282548.2NP_001269477.1  BRCA1-associated RING domain protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001269477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks five consecutive exons in the coding region, compared to variant 1. The resulting isoform (4, also known as delta) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC016708, BU753556, DB088853, JF790284
      Consensus CDS
      CCDS74645.1
      UniProtKB/TrEMBL
      F6MDI0, F6MDI1
      Related
      ENSP00000484464.1, ENST00000613374.5
      Conserved Domains (2) summary
      smart00292
      Location:199297
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:98171
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    5. NM_001282549.2NP_001269478.1  BRCA1-associated RING domain protein 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) six consecutively exons in the coding region, compared to variant 1. The resulting isoform (5, also known as epsilon) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC016708, BU753556, DB088853, JF790285
      Consensus CDS
      CCDS74648.1
      UniProtKB/TrEMBL
      A0A087WZ19, F6MDI2
      Related
      ENSP00000482293.1, ENST00000619009.5
      Conserved Domains (2) summary
      smart00292
      Location:156254
      BRCT; breast cancer carboxy-terminal domain
      pfam14835
      Location:41105
      zf-RING_6; zf-RING of BARD1-type protein

    RNA

    1. NR_104212.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016708, AK301843, AK314260, BC126426, BU753556, BX098964, DB088853
    2. NR_104215.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two consecutive exons in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790281
    3. NR_104216.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016708, BC126428, BU753556, BX098964, DB088853, JF790282

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      214725646..214809683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004613.2XP_016860102.1  BRCA1-associated RING domain protein 1 isoform X1

      UniProtKB/TrEMBL
      A0AVN2, B2RAM8
    2. XM_047445350.1XP_047301306.1  BRCA1-associated RING domain protein 1 isoform X3

      UniProtKB/TrEMBL
      A0AVN2, B2RAM8
    3. XM_017004614.2XP_016860103.1  BRCA1-associated RING domain protein 1 isoform X2

      UniProtKB/TrEMBL
      A0AVN2, B2RAM8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      215210222..215294294 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343242.1XP_054199217.1  BRCA1-associated RING domain protein 1 isoform X5

      UniProtKB/TrEMBL
      A0AVN2
    2. XM_054343240.1XP_054199215.1  BRCA1-associated RING domain protein 1 isoform X1

      UniProtKB/TrEMBL
      A0AVN2, B2RAM8
    3. XM_054343241.1XP_054199216.1  BRCA1-associated RING domain protein 1 isoform X4

      UniProtKB/TrEMBL
      A0AVN2
    4. XM_054343244.1XP_054199219.1  BRCA1-associated RING domain protein 1 isoform X3

      UniProtKB/TrEMBL
      A0AVN2, B2RAM8
    5. XM_054343243.1XP_054199218.1  BRCA1-associated RING domain protein 1 isoform X2

      UniProtKB/TrEMBL
      A0AVN2, B2RAM8