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Ap3b1 Gene Detail
Summary
  • Symbol
    Ap3b1
  • Name
    adaptor-related protein complex 3, beta 1 subunit
  • Synonyms
    AP-3, beta3A, Hps2, recombination induced mutation 2, rim2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333879
    NCBI Gene: 11774
  • Gene Overview
    MyGene.info: AP3B1
Location & Maps
more
  • Sequence Map
    Chr13:94358960-94566316 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      207357 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 49.22 cM
  • Mapping Data
    35 experiments
Homology
more
  • Human Ortholog
    AP3B1, adaptor related protein complex 3 beta 1 subunit
  • Vertebrate Orthologs
    7
  • Human Ortholog
    AP3B1, adaptor related protein complex 3 beta 1 subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADTB3, ADTB3A, HPS, HPS2, PE
  • Links
    NCBI Gene ID: 8546
    neXtProt AC: NX_O00203

  • Chr Location
    5q14.1; chr5:78002326-78294755 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Ap3b1 mouse models; 1 with human AP3B1 associations

Human Disease Mouse Models
       Hermansky-Pudlak Syndrome 2; HPS2   OMIM: 608233 View 4 models
       Storage Pool Platelet Disease   OMIM: 185050 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 16 alleles in 18 genetic backgrounds
    9 phenotypes from multigenic genotypes
    7 images
    75 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.
  • All Mutations and Alleles
    54
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    34
  • Spontaneous
    14
  • Targeted
    4
  • Genomic Mutations
    2 involving Ap3b1
  • Incidental Mutations
Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021686 Ensembl Gene Model | MGI Sequence Detail 207357 C57BL/6J ±  kb
transcript ENSMUST00000022196 Ensembl | MGI Sequence Detail 4020 Not Applicable  
polypeptide ENSMUSP00000022196 Ensembl | MGI Sequence Detail 1105 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1561 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000004104 AP-3 complex subunit beta-1
  • InterPro Domains
    IPR026740 AP-3 complex subunit beta
    IPR029394 AP-3 complex subunit beta 1, serine-rich domain
    IPR029390 AP-3 complex subunit beta, C-terminal domain
    IPR026739 AP complex subunit beta
    IPR011989 Armadillo-like helical
    IPR016024 Armadillo-type fold
    IPR015151 Beta-adaptin appendage, C-terminal subdomain
    IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
Molecular
Reagents
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  • All nucleic 29
    Genomic 12
    cDNA 13
    Primer pair 4

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-13224, MGI:1197525, MGI:2145332, MGI:2145497, MGI:97536
References
more
  • Summaries
    All 117
    Diseases 7
    Gene Ontology 8
    Phenotypes 75
  • Earliest
    J:104625 Russell LB, et al., Steel (Sl) and Pearl (pe). Mouse News Lett. 1953;8:14
  • Latest
    J:233718 Kook S, et al., Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice. J Biol Chem. 2016 Apr 15;291(16):8414-27

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
09/13/2016
MGI 6.05
The Jackson Laboratory