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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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:94358960-94566317 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333879
protein coding gene Chr13:94358580-94566317 (.)
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
    7
  • Human Ortholog
    AP3B1, adaptor related protein complex 3 subunit beta 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADTB3, ADTB3A, HPS, HPS2, PE
  • Links
    NCBI Gene ID: 8546
    neXtProt AC: NX_O00203
    UniProt: O00203

  • Chr Location
    5q14.1; chr5:78002326-78294755 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
View 3 models
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
    51 phenotypes from 17 alleles in 19 genetic backgrounds
    9 phenotypes from multigenic genotypes
    7 images
    80 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 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
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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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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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
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MGD-MRK-13224, MGI:1197525, MGI:2145332, MGI:2145497, MGI:97536
References
more
  • Summaries
    All 129
    Diseases 6
    Gene Ontology 9
    Phenotypes 80
  • Earliest
    J:15331 Sarvella PA, Pearl, a new spontaneous coat and eye color mutation in the house mouse. J Hered. 1954;45:19-20
  • Latest
    J:251131 Pollard KM, et al., Induction of Systemic Autoimmunity by a Xenobiotic Requires Endosomal TLR Trafficking and Signaling from the Late Endosome and Endolysosome but Not Type I IFN. J Immunol. 2017 Dec 1;199(11):3739-3747

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
11/06/2018
MGI 6.13
The Jackson Laboratory