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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection.
Title: Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection.
Promotion of DNA end resection by BRCA1-BARD1 in homologous recombination.
Title: Promotion of DNA end resection by BRCA1-BARD1 in homologous recombination.
Germline BARD1 variants predispose to mesothelioma by impairing DNA repair and calcium signaling.
Title: Germline BARD1 variants predispose to mesothelioma by impairing DNA repair and calcium signaling.
Structural dynamics of clinically-reported VUS in the BARD1 ARD-BRCT region to predict the molecular basis of alterations.
Title: Structural dynamics of clinically-reported VUS in the BARD1 ARD-BRCT region to predict the molecular basis of alterations.
BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
Title: BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
Title: Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.
Title: BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.
BRCA1-BARD1 combines multiple chromatin recognition modules to bridge nascent nucleosomes.
Title: BRCA1-BARD1 combines multiple chromatin recognition modules to bridge nascent nucleosomes.
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Title: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma.
Title: Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma.

Submit: New GeneRIF Correction See all GeneRIFs (152)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs

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 EBI GWAS CatalogPubMed
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Integrative genomics identifies LMO1 as a neuroblastoma oncogene. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-56861 (e-PCR)
- UniSTS:10571

SHGC-108134 (e-PCR)
- UniSTS:170572

BARD1_4434 (e-PCR)
- UniSTS:462770

RH66789 (e-PCR)
- UniSTS:47835

NoName (e-PCR)
- UniSTS:494571

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AK127 ubiquitin ligase activity	TAS Traceable Author Statement more info	PubMed
enables histone H2AK129 ubiquitin ligase activity	TAS Traceable Author Statement more info	PubMed
enables kinase binding	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-modified histone reader activity	TAS Traceable Author Statement more info	PubMed
contributes_to ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	NAS Non-traceable Author Statement more info	PubMed

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

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Preferred Names: BRCA1-associated RING domain protein 1

Names: BRCA1-associated RING domain gene 1; RING-type E3 ubiquitin transferase BARD1

NP_000456.2

EC 2.3.2.27

NP_001269472.1

EC 2.3.2.27

NP_001269474.1

EC 2.3.2.27

NP_001269477.1

EC 2.3.2.27

NP_001269478.1

EC 2.3.2.27

XP_016860102.1

EC 2.3.2.27

XP_016860103.1

EC 2.3.2.27

XP_047301306.1

EC 2.3.2.27

XP_054199215.1

EC 2.3.2.27

XP_054199216.1

EC 2.3.2.27

XP_054199217.1

EC 2.3.2.27

XP_054199218.1

EC 2.3.2.27

XP_054199219.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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

NG_012047.3 RefSeqGene

Range

5029..89066

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_297

mRNA and Protein(s)

NM_000465.4 → NP_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:669 → 767

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:568 → 641

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:424 → 544

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:432 → 524

Ank_2; Ankyrin repeats (3 copies)

pfam14835
Location:41 → 105

zf-RING_6; zf-RING of BARD1-type protein

sd00045
Location:427 → 458

ANK; ANK repeat [structural motif]
NM_001282543.2 → NP_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:650 → 748

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:549 → 622

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:405 → 525

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:413 → 505

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:408 → 439

ANK; ANK repeat [structural motif]

cl17238
Location:41 → 86

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 ...
NM_001282545.2 → NP_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:218 → 316

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:117 → 190

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:41 → 73

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 ...
NM_001282548.2 → NP_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:199 → 297

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:98 → 171

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 ...
NM_001282549.2 → NP_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:156 → 254

BRCT; breast cancer carboxy-terminal domain

pfam14835
Location:41 → 105

zf-RING_6; zf-RING of BARD1-type protein

RNA

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
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
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

214725646..214809683 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0AVN2, B2RAM8
XM_047445350.1 → XP_047301306.1 BRCA1-associated RING domain protein 1 isoform X3
XM_017004614.2 → XP_016860103.1 BRCA1-associated RING domain protein 1 isoform X2

UniProtKB/TrEMBL

A0AVN2, B2RAM8

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

215210222..215294294 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343242.1 → XP_054199217.1 BRCA1-associated RING domain protein 1 isoform X5
XM_054343240.1 → XP_054199215.1 BRCA1-associated RING domain protein 1 isoform X1
XM_054343241.1 → XP_054199216.1 BRCA1-associated RING domain protein 1 isoform X4
XM_054343244.1 → XP_054199219.1 BRCA1-associated RING domain protein 1 isoform X3
XM_054343243.1 → XP_054199218.1 BRCA1-associated RING domain protein 1 isoform X2