Bard1 BRCA1 associated RING domain 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bard1provided by MGI
Official Full Name: BRCA1 associated RING domain 1provided by MGI
Primary source: MGI:MGI:1328361
See related: Ensembl:ENSMUSG00000026196 AllianceGenome:MGI:1328361
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable RNA binding activity; protein heterodimerization activity; and protein homodimerization activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in several processes, including negative regulation of protein export from nucleus; protein K6-linked ubiquitination; and regulation of apoptotic process. Located in nucleus. Is expressed in central nervous system; genitourinary system; limb; and spleen. Used to study breast cancer. Human ortholog(s) of this gene implicated in breast cancer and ovarian cancer. Orthologous to human BARD1 (BRCA1 associated RING domain 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver E14 (RPKM 5.7), liver E14.5 (RPKM 5.1) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C3; 1 35.67 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (71066694..71142300, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (71027535..71103141, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aberrant Zip14 expression in muscle is associated with cachexia in a Bard1-deficient mouse model of breast cancer metastasis.
Title: Aberrant Zip14 expression in muscle is associated with cachexia in a Bard1-deficient mouse model of breast cancer metastasis.
Results demonstrate that endometriotic cells inhibit BARD1/BRCA1 function by upregulating miR-210-3p, which might be the underlying mechanism for endometriotic cell maintenance of growth in oxidative stress.
Title: MiR-210-3p protects endometriotic cells from oxidative stress-induced cell cycle arrest by targeting BARD1.
Bard1(S563F/S563F) and Bard1(K607A/K607A) mice, unlike Brca1(S1598F/S1598F) mice, are not tumor prone, indicating that homology-directed repair alone is sufficient to suppress tumor formation in the absence of stalled fork protection
Title: The BRCT Domains of the BRCA1 and BARD1 Tumor Suppressors Differentially Regulate Homology-Directed Repair and Stalled Fork Protection.
Study reports that USP15 affects cancer cell response to PARP inhibitors by regulating homologous recombination repair. USP15 is recruited to DNA double-strand breaks (DSBs) by MDC1. USP15 deubiquitinates BARD1 BRCT domain, and promotes BARD1-HP1gamma interaction, resulting in BRCA1/BARD1 retention at DSBs. Cancer-associated USP15 mutations, with decreased USP15-BARD1 interaction, increases PARP inhibitor sensitivity.
Title: The deubiquitylating enzyme USP15 regulates homologous recombination repair and cancer cell response to PARP inhibitors.
Suggest BARD1 as a driver of proliferation and of pulmonary fibrosis pathogenesis.
Title: BARD1 mediates TGF-β signaling in pulmonary fibrosis.
The remarkable similarities between the mammary carcinomas of Bard1-, Brca1-, and Bard1/Brca1-mutant mice indicate that the tumor suppressor activities of both genes are mediated through the BRCA1/BARD1 heterodimer.
Title: The basal-like mammary carcinomas induced by Brca1 or Bard1 inactivation implicate the BRCA1/BARD1 heterodimer in tumor suppression.
the ankyrin and BRCT motifs of BARD1 are each essential for both chromosome stability and homology-directed DNA repair.
Title: Structural requirements for the BARD1 tumor suppressor in chromosomal stability and homology-directed DNA repair.
identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis
Title: Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis.
Data show that expression of truncated mouse or human BARD1 peptides capable of interacting with Brca1 results in a homologous-repair deficiency.
Title: BARD1 participates with BRCA1 in homology-directed repair of chromosome breaks.
the developmental functions of Brca1 and Bard1 are mediated by the Brca1/Bard1 heterodimer.
Title: Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3)
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF057157 (e-PCR)
- UniSTS:158805

PMC162231P1 (e-PCR)
- UniSTS:271466

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
contributes_to ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info

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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein export from nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell cycle	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	ISO Inferred from Sequence Orthology more info
involved_in protein K6-linked ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
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 phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of phosphorylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BRCA1-A complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-A complex	NAS Non-traceable Author Statement more info	PubMed
part_of BRCA1-B complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-BARD1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BRCA1-BARD1 complex	ISO Inferred from Sequence Orthology more info
part_of BRCA1-BARD1 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of BRCA1-C complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic ribonucleoprotein granule	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
part_of nuclear ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: BRCA1-associated RING domain protein 1

Names: BARD-1; RING-type E3 ubiquitin transferase BARD1

NP_001406889.1

EC 2.3.2.27

NP_031551.1

EC 2.3.2.27

XP_006495695.1

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.

mRNA and Protein(s)

NM_001419960.1 → NP_001406889.1 BRCA1-associated RING domain protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC104747
NM_007525.3 → NP_031551.1 BRCA1-associated RING domain protein 1 isoform 1

See identical proteins and their annotated locations for NP_031551.1

Status: VALIDATED

Source sequence(s)

AC104747

Consensus CDS

CCDS15029.1

UniProtKB/Swiss-Prot

A2VCQ1, O70445

UniProtKB/TrEMBL

Q3ULG2

Related

ENSMUSP00000027393.8, ENSMUST00000027393.8

Conserved Domains (6) summary

smart00292
Location:558 → 628

BRCT; breast cancer carboxy-terminal domain

cd00204
Location:412 → 532

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:420 → 512

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:391 → 436

Ank_4; Ankyrin repeats (many copies)

pfam14835
Location:35 → 99

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

sd00045
Location:415 → 446

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

71066694..71142300 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006495632.4 → XP_006495695.1 BRCA1-associated RING domain protein 1 isoform X2

Conserved Domains (4) summary

sd00045
Location:415 → 446

ANK; ANK repeat [structural motif]

pfam12796
Location:420 → 510

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:391 → 436

Ank_4; Ankyrin repeats (many copies)

pfam14835
Location:35 → 99

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