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Bap1 Brca1 associated protein 1 [ Mus musculus (house mouse) ]

Gene ID: 104416, updated on 21-Apr-2024

Summary

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Official Symbol
Bap1provided by MGI
Official Full Name
Brca1 associated protein 1provided by MGI
Primary source
MGI:MGI:1206586
See related
Ensembl:ENSMUSG00000021901 AllianceGenome:MGI:1206586
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
Also known as
uch-x4; mKIAA0272; 2300006C11Rik
Summary
Predicted to enable chromatin binding activity and thiol-dependent deubiquitinase. Acts upstream of or within several processes, including macrophage homeostasis; regulation of cytokine production involved in inflammatory response; and regulation of inflammatory response. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of PR-DUB complex. Predicted to be active in cytoplasm. Is expressed in gonad; liver; and mammary gland. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in basal cell carcinoma and extrahepatic bile duct adenocarcinoma. Orthologous to human BAP1 (BRCA1 associated protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 33.4), testis adult (RPKM 31.1) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
14 B; 14 19.09 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (30973358..30981887)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (31251352..31259930)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G Neighboring gene STARR-positive B cell enhancer ABC_E7302 Neighboring gene PHD finger protein 7 Neighboring gene dynein, axonemal, heavy chain 1 Neighboring gene predicted gene, 35823 Neighboring gene STARR-positive B cell enhancer ABC_E10823 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32149566-32149675 Neighboring gene calpain 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. BAP1 shapes the bone marrow niche for lymphopoiesis by fine-tuning epigenetic profiles in endosteal mesenchymal stromal cells. Jeong J, et al. Cell Death Differ, 2022 Nov. PMID 35473985, Free PMC Article
  2. BAP1 enhances Polycomb repression by counteracting widespread H2AK119ub1 deposition and chromatin condensation. Conway E, et al. Mol Cell, 2021 Sep 2. PMID 34186021, Free PMC Article
  3. BAP1 constrains pervasive H2AK119ub1 to control the transcriptional potential of the genome. Fursova NA, et al. Genes Dev, 2021 May 1. PMID 33888563, Free PMC Article
  4. Glutamylation of deubiquitinase BAP1 controls self-renewal of hematopoietic stem cells and hematopoiesis. Xiong Z, et al. J Exp Med, 2020 Feb 3. PMID 31699823, Free PMC Article
  5. Tumor suppressor BAP1 is essential for thymic development and proliferative responses of T lymphocytes. Arenzana TL, et al. Sci Immunol, 2018 Apr 20. PMID 29678836

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. B-cell intrinsic regulation of antibody mediated immunity by histone H2A deubiquitinase BAP1.
    Title: B-cell intrinsic regulation of antibody mediated immunity by histone H2A deubiquitinase BAP1.
  2. Deubiquitinase BAP1 regulates stability of BRCA1 protein and inactivates the NF-kappaB signaling to protect mice from sepsis-induced acute kidney injury.
    Title: Deubiquitinase BAP1 regulates stability of BRCA1 protein and inactivates the NF-κB signaling to protect mice from sepsis-induced acute kidney injury.
  3. Genetic screens reveal new targetable vulnerabilities in BAP1-deficient mesothelioma.
    Title: Genetic screens reveal new targetable vulnerabilities in BAP1-deficient mesothelioma.
  4. BAP1 shapes the bone marrow niche for lymphopoiesis by fine-tuning epigenetic profiles in endosteal mesenchymal stromal cells.
    Title: BAP1 shapes the bone marrow niche for lymphopoiesis by fine-tuning epigenetic profiles in endosteal mesenchymal stromal cells.
  5. BAP1 forms a trimer with HMGB1 and HDAC1 that modulates gene x environment interaction with asbestos.
    Title: BAP1 forms a trimer with HMGB1 and HDAC1 that modulates gene × environment interaction with asbestos.
  6. BAP1 enhances Polycomb repression by counteracting widespread H2AK119ub1 deposition and chromatin condensation.
    Title: BAP1 enhances Polycomb repression by counteracting widespread H2AK119ub1 deposition and chromatin condensation.
  7. BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
    Title: BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
  8. Regulation of B Lymphocyte Development by Histone H2A Deubiquitinase BAP1.
    Title: Regulation of B Lymphocyte Development by Histone H2A Deubiquitinase BAP1.
  9. BAP1 constrains pervasive H2AK119ub1 to control the transcriptional potential of the genome.
    Title: BAP1 constrains pervasive H2AK119ub1 to control the transcriptional potential of the genome.
  10. Combined deletion of Bap1, Nf2, and Cdkn2ab causes rapid onset of malignant mesothelioma in mice.
    Title: Combined deletion of Bap1, Nf2, and Cdkn2ab causes rapid onset of malignant mesothelioma in mice.
Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables chromatin DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
  
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type deubiquitinase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables cysteine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone H2A deubiquitinase activity ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in common myeloid progenitor cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in erythrocyte maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in granulocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in hematopoietic stem cell homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in leukocyte proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within macrophage homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in monoubiquitinated protein deubiquitination ISO
Inferred from Sequence Orthology
more info
  
involved_in myeloid cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in neuron cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neutrophil differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nucleate erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in platelet morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein K48-linked deubiquitination ISO
Inferred from Sequence Orthology
more info
  
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein deubiquitination ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in protein deubiquitination ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell cycle ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cell growth ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of cytokine production involved in inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to inorganic substance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thrombocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tissue homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of PR-DUB complex ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 PubMed 

General protein information

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Preferred Names
ubiquitin carboxyl-terminal hydrolase BAP1
Names
BRCA1-associated protein 1
ubiquitin C-terminal hydrolase X4
NP_081364.1
XP_036014231.1

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)

  1. NM_027088.2 → NP_081364.1  ubiquitin carboxyl-terminal hydrolase BAP1

    See identical proteins and their annotated locations for NP_081364.1

    Status: VALIDATED

    Source sequence(s)
    AK170576
    Consensus CDS
    CCDS26910.1
    UniProtKB/Swiss-Prot
    Q3TCR6, Q6ZQE6, Q99PU7
    Related
    ENSMUSP00000022458.5, ENSMUST00000022458.11
    Conserved Domains (2) summary
    cd09617
    Location:5 → 233
    Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    pfam18031
    Location:642 → 687
    UCH_C; Ubiquitin carboxyl-terminal hydrolases

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

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    30973358..30981887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158338.1 → XP_036014231.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X1

    Conserved Domains (2) summary
    cd09617
    Location:5 → 233
    Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    pfam18031
    Location:629 → 656
    UCH_C; Ubiquitin carboxyl-terminal hydrolases

RNA

  1. XR_383122.5 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99PU7.1 GenPept UniProtKB/Swiss-Prot:Q99PU7

Gene LinkOut

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