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

Summary

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

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_000080.7 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: 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?

BAP1 is required prenatally for differentiation and maintenance of postnatal murine enteric nervous system.
Title: BAP1 is required prenatally for differentiation and maintenance of postnatal murine enteric nervous system.
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.
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.
Genetic screens reveal new targetable vulnerabilities in BAP1-deficient mesothelioma.
Title: Genetic screens reveal new targetable vulnerabilities in BAP1-deficient mesothelioma.
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.
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.
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.
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.
Regulation of B Lymphocyte Development by Histone H2A Deubiquitinase BAP1.
Title: Regulation of B Lymphocyte Development by Histone H2A Deubiquitinase BAP1.
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.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Gene trapped (1)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 3.4.19.12

XP_036014231.1

EC 3.4.19.12

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_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

NC_000080.7 Reference GRCm39 C57BL/6J

Range

30973358..30981887

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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