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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
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:94495468-94702825 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 49.22 cM
  • Mapping Data
    35 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1561 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333879
 protein coding gene Chr13:94492332-94702838 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020833
 protein coding gene Chr13:95765570-95985245 (+)
A/J MGP_AJ_G0020787
 protein coding gene Chr13:92184335-92390413 (+)
AKR/J MGP_AKRJ_G0020761
 protein coding gene Chr13:94928608-95212437 (+)
BALB/cJ MGP_BALBcJ_G0020784
 protein coding gene Chr13:92852100-93061371 (+)
C3H/HeJ MGP_C3HHeJ_G0020577
 protein coding gene Chr13:94707790-94925970 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021220
 protein coding gene Chr13:98685294-98906923 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018789
 protein coding gene Chr13:88025455-88228212 (+)
CAST/EiJ MGP_CASTEiJ_G0020096
 protein coding gene Chr13:93965076-94181823 (+)
CBA/J MGP_CBAJ_G0020536
 protein coding gene Chr13:102613911-102831037 (+)
DBA/2J MGP_DBA2J_G0020661
 protein coding gene Chr13:91975218-92188141 (+)
FVB/NJ MGP_FVBNJ_G0020642
 protein coding gene Chr13:90764069-90970015 (+)
LP/J MGP_LPJ_G0020736
 protein coding gene Chr13:95872353-96093349 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020670
 protein coding gene Chr13:103072122-103303507 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021260
 protein coding gene Chr13:94396199-94604339 (+)
PWK/PhJ MGP_PWKPhJ_G0019848
 protein coding gene Chr13:90695727-90902351 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019672
 protein coding gene Chr13:90658868-90872028 (+)
WSB/EiJ MGP_WSBEiJ_G0020153
 protein coding gene Chr13:94886437-95099199 (+)



Homology
more
  • Human Ortholog
    AP3B1, adaptor related protein complex 3 subunit beta 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AP3B1, adaptor related protein complex 3 subunit beta 1
  • Synonyms
    ADTB3, ADTB3A, HPS, HPS2, PE
  • Links
    NCBI Gene ID: 8546
    neXtProt AC: NX_O00203
    UniProt: O00203

  • Chr Location
    5q14.1; chr5:78000522-78294762 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ap3b1 mouse models; 5 with human AP3B1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 14 alleles in 14 genetic backgrounds
    54 phenotypes from multigenic genotypes
    7 images
    94 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 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
less
  • All GO Annotations
    58
  • GO References
    21
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
non-membrane-bounded 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
    706
  • cDNA Data
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021686 Ensembl Gene Model | MGI Sequence Detail 207358 C57BL/6J ±  kb
    transcript ENSMUST00000022196 Ensembl | MGI Sequence Detail 4021 Not Applicable  
    polypeptide ENSMUSP00000022196 Ensembl | MGI Sequence Detail 1105 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 12
      cDNA 13
      Primer pair 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13224, MGI:1197525, MGI:2145332, MGI:2145497, MGI:97536
    References
    more
    • Summaries
      All 151
      Diseases 6
      Gene Ontology 21
      Phenotypes 94
    • Earliest
      J:15331 Sarvella PA, Pearl, a new spontaneous coat and eye color mutation in the house mouse. J Hered. 1954;45(1):19-20
    • Latest
      J:343146 Xu H, et al., Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1. Nat Neurosci. 2023 Oct;26(10):1685-1700
    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
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory