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Bap1 Gene Detail
Summary
  • Symbol
    Bap1
  • Name
    Brca1 associated protein 1
  • Synonyms
    2300006C11Rik, mKIAA0272
  • Feature Type
    protein coding gene
  • IDs
    MGI:1206586
    NCBI Gene: 104416
  • Gene Overview
    MyGene.info: BAP1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr14:31251450-31259944 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8495 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 19.09 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    BAP1, BRCA1 associated protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BAP1, BRCA1 associated protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HUCEP-13, hucep-6, UCHL2
  • Links
    NCBI Gene ID: 8314
    neXtProt AC: NX_Q92560
    UniProt: Q92560

  • Chr Location
    3p21.1; chr3:52401004-52410105 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3421
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: BAP1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Bap1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    45 phenotypes from 6 alleles in 4 genetic backgrounds
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous deletion of this gene causes delayed embryonic growth and complete lethality during organogenesis. Systemic or hematopoietic-restricted deletion in adults recapitulates features of myelodysplastic syndrome. Heterozygotes show increased incidence of asbestos-induced malignant mesothelioma.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      28 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004641 ubiquitin carboxyl-terminal hydrolase BAP1
    • EC
    • InterPro Domains
      IPR038765 Papain-like cysteine peptidase superfamily
      IPR001578 Peptidase C12, ubiquitin carboxyl-terminal hydrolase
      IPR036959 Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily
    Molecular
    Reagents
    less
    • All nucleic 179
      cDNA 176
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1916715, MGI:2145590, MGI:2145836
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 6
      Phenotypes 20
    • 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:261316 Perez-Garcia V, et al., Placentation defects are highly prevalent in embryonic lethal mouse mutants. Nature. 2018 Mar 22;555(7697):463-468

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory