About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:30973407-30981901 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 19.09 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    194 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1206586
 protein coding gene Chr14:30973358-30981901 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021125
 protein coding gene Chr14:24427500-24435993 (+)
A/J MGP_AJ_G0021073
 protein coding gene Chr14:23505019-23513513 (+)
AKR/J MGP_AKRJ_G0021050
 protein coding gene Chr14:24628977-24637470 (+)
BALB/cJ MGP_BALBcJ_G0021077
 protein coding gene Chr14:23630064-23638599 (+)
C3H/HeJ MGP_C3HHeJ_G0020860
 protein coding gene Chr14:24500273-24508767 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021509
 protein coding gene Chr14:25395249-25403743 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019072
 protein coding gene Chr14:23570422-23578910 (+)
CAST/EiJ MGP_CASTEiJ_G0020385
 protein coding gene Chr14:24264478-24273837 (+)
CBA/J MGP_CBAJ_G0020827
 protein coding gene Chr14:26367715-26376215 (+)
DBA/2J MGP_DBA2J_G0020949
 protein coding gene Chr14:23535372-23543862 (+)
FVB/NJ MGP_FVBNJ_G0020933
 protein coding gene Chr14:23497688-23506181 (+)
LP/J MGP_LPJ_G0021018
 protein coding gene Chr14:24755673-24764161 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020959
 protein coding gene Chr14:25632871-25641361 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021542
 protein coding gene Chr14:24390130-24398623 (+)
PWK/PhJ MGP_PWKPhJ_G0020133
 protein coding gene Chr14:22993825-23002379 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019957
 protein coding gene Chr14:23988832-23997272 (+)
WSB/EiJ MGP_WSBEiJ_G0020440
 protein coding gene Chr14:24452920-24461425 (+)



Homology
more
  • Human Ortholog
    BAP1, BRCA1 associated deubiquitinase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BAP1, BRCA1 associated deubiquitinase 1
  • Synonyms
    HUCEP-13, hucep-6, KURIS, TPDS1, UBM2, UCHL2, UVM2
  • Links
    NCBI Gene ID: 8314
    neXtProt AC: NX_Q92560
    UniProt: Q92560

  • Chr Location
    3p21.1; chr3:52401008-52410008 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bap1 mouse models; 3 with human BAP1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
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
less
  • Phenotype Summary
    49 phenotypes from 6 alleles in 4 genetic backgrounds
    37 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    66
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    759
  • Tissues
    23
  • cDNA Data
    176
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021901 Ensembl Gene Model | MGI Sequence Detail 8495 C57BL/6J ±  kb
    transcript ENSMUST00000022458 Ensembl | MGI Sequence Detail 3460 Not Applicable  
    polypeptide ENSMUSP00000022458 Ensembl | MGI Sequence Detail 728 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004641 ubiquitin carboxyl-terminal hydrolase BAP1
      (term hierarchy)
    • EC
      3.4.19.12
    • InterPro Domains
      IPR038765 Papain-like cysteine peptidase superfamily
      IPR041507 Peptidase C12, C-terminal domain
      IPR001578 Peptidase C12, ubiquitin carboxyl-terminal hydrolase
      IPR036959 Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily
    • GlyGen
      Q99PU7 1 site, 1 O-linked glycan (1 site)
    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 78
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 11
      Phenotypes 37
    • 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:353791 Xu L, et al., Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells. Cell Stem Cell. 2024 Aug 16;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory