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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

Gene Tree: Bap1

Human
homologs
Human Homolog BAP1, BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
NCBI Gene ID 8314
neXtProt AC  NX_Q92560
Human Synonyms  HUCEP-13, UCHL2
Human Chr (Location)  3p21.31-p21.2; chr3:52401004-52410105 (-)  GRCh38
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 )
 
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 Using Mouse Bap1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Bap1 interacts with 199 markers (Mir10a, Mir10b, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 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)   
Theiler Stages: 28
Assay TypeResults
RNA in situ 14
Northern blot 12
cDNA source data(175)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(178) cDNA(175) Other(3)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000048112 (Evidence)
Ensembl Gene ModelENSMUSG00000021901 (Evidence)
Entrez Gene104416 (Evidence)
UniGene3779
DFCITC1573310
DoTSDT.110758382, DT.97336930, DT.97383078
NIA Mouse Gene IndexU015462
EC3.4.19.12
Consensus CDS ProjectCCDS26910.1
International Mouse Knockout Project StatusBap1
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(49) RefSeq(3) UniProt(1)
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
09/02/2014
MGI 5.19
The Jackson Laboratory