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

Gene ID: 580, updated on 9-Feb-2020

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
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

Genomic context

See BARD1 in Genome Data Viewer
Location:
2q35
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (214725645..214809683, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215590370..215674428, 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 endosulfine alpha pseudogene 3 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

NHGRI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
kinase binding NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
BRCA1-A complex IDA
Inferred from Direct Assay
more info
PubMed 
BRCA1-BARD1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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

NCBI Reference Sequences (RefSeq)

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
    Q99728
    UniProtKB/TrEMBL
    A0AVN2
    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/Swiss-Prot
    Q99728
    UniProtKB/TrEMBL
    A0AVN2
    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
    A0A087X2H0, 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
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    214725645..214809683 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017004614.1XP_016860103.1  BRCA1-associated RING domain protein 1 isoform X2

RNA

  1. XR_002959322.1 RNA Sequence

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