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Bap1
Gene Detail
Symbol

Name
ID
Bap1
Brca1 associated protein 1
MGI:1206586
Synonyms
2300006C11Rik, mKIAA0272
Feature Type
protein coding gene
Genetic Map
Chromosome 14
19.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr14:31251450-31259944 bp, + strand
From VEGA annotation of GRCm38

  8495 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3421  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: BAP1
Gene Tree: Bap1

Human
homologs
BAP1, BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 8314
neXtProt AC: NX_Q92560

Human Synonyms: HUCEP-13, hucep-6, UCHL2

Human Chr (Location): 3p21.1; chr3:52401004-52410105 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BAP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(4) Targeted(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous inactivation of this gene leads to embryonic growth retardation and complete embryonic lethality during organogenesis. Systemic or hematopoietic-restricted deletion in adult mice recapitulates features of human myelodysplastic syndrome.
 
Human Diseases Modeled in Mice Using Bap1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Bap1 interacts with 198 markers (Mir10a, Mir10b, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process chromatin modification, monoubiquitinated histone H2A deubiquitination, ...
Component cytoplasm, intracellular, ...
Function chromatin binding, cysteine-type peptidase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (26)    Tissues (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 14
Northern blot 12
cDNA source data(175)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bap1    NEW 
Molecular
reagents
All nucleic(178) cDNA(175) Other(3)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000048112 (Evidence)
Ensembl Gene Model ENSMUSG00000021901 (Evidence)
Entrez Gene 104416 (Evidence)
UniGene 3779
DFCI TC1573310
DoTS DT.97336930, DT.110758382, DT.97383078
NIA Mouse Gene Index U015462
EC 3.4.19.12
Consensus CDS Project CCDS26910.1
International Mouse Phenotyping Consortium Status Bap1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000048112 VEGA Gene Model | MGI Sequence Detail 8495 C57BL/6J ±  kb
transcript OTTMUST00000123598 VEGA | MGI Sequence Detail 3460 Not Applicable 
polypeptide OTTMUSP00000067451 VEGA | MGI Sequence Detail 728 Not Applicable 

For the selected sequences
All sequences(63) RefSeq(3) UniProt(3)
Polymorphisms
SNPs within 2kb(28 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001578 Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1
Protein Ontology PR:000004641 ubiquitin carboxyl-terminal hydrolase BAP1
References
(Earliest) J:46396 Jensen DE, et al., BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene. 1998 Mar 5;16(9):1097-112
(Latest) J:187380 Dey A, et al., Loss of the tumor suppressor BAP1 causes myeloid transformation. Science. 2012 Sep 21;337(6101):1541-6
All references(39)
Disease annotation references (1)
Other
accession IDs
MGI:1916715, MGI:2145590, MGI:2145836

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory