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Ap3b1
Gene Detail
 Symbol
Name
ID
Ap3b1
adaptor-related protein complex 3, beta 1 subunit
MGI:1333879
Synonyms AP-3, beta3A, Hps2, recombination induced mutation 2, rim2
Feature Type protein coding gene
Genetic Map
Chromosome 13
49.22 cM
Detailed Genetic Map ± 1 cM


Mapping data(35)
Sequence Map
Chr13:94358960-94566316 bp, + strand
From NCBI annotation of GRCm38

  207357 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68125  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: adaptor protein complex AP-3, beta subunit
Gene Tree: Ap3b1

Human
homologs
Human Homolog AP3B1, adaptor-related protein complex 3, beta 1 subunit
NCBI Gene ID 8546
neXtProt AC  NX_O00203
Human Synonyms  ADTB3, ADTB3A, HPS, HPS2, PE
Human Chr (Location)  5q14.1; chr5:78002326-78294755 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human AP3B1
Mutations,
alleles, and
phenotypes
All mutations/alleles(53) : Chemically induced (ENU)(1) Gene trapped(34) Spontaneous(14) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Ap3b1 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(7)
Interactions
Ap3b1 interacts with 187 markers (Mir1a-1, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component AP-3 adaptor complex, cell, ...
Function GTP-dependent protein binding, protein phosphatase binding
External Resources: FuncBase
Expression
cDNA source data(12)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(29) Genomic(12) cDNA(13) Primer pair(4)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000021686 (Evidence)
Entrez Gene11774 (Evidence)
DFCITC1574859, TC1595241, TC1657759
DoTSDT.110961129, DT.110961141, DT.40187050, DT.534373
NIA Mouse Gene IndexU015128
Consensus CDS ProjectCCDS26693.1
International Mouse Knockout Project StatusAp3b1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 11774 NCBI Gene Model | MGI Sequence Detail 207357 C57BL/6J ±  kb
transcript NM_009680 RefSeq | MGI Sequence Detail 4020 C57BL/6 
polypeptide Q9Z1T1 UniProt | EBI | MGI Sequence Detail 1105 Not Applicable 

For the selected sequences
All sequences(64) RefSeq(5) UniProt(4)
Polymorphisms PCR(4) : SNPs within 2kb(1562 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026740 AP-3 complex subunit beta
InterPro IPR026739 AP complex subunit beta
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
Protein Ontology PR:000004104 AP-3 complex subunit beta-1
Graphical View of Protein Domain Structure
References (Earliest) J:104625 Russell LB, et al., Steel (Sl) and Pearl (pe). Mouse News Lett. 1953;8:14
(Latest) J:202452 Sirkis DW, et al., Widespread Dysregulation of Peptide Hormone Release in Mice Lacking Adaptor Protein AP-3. PLoS Genet. 2013 Sep;9(9):e1003812
All references(115)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-13224, MGI:1197525, MGI:2145332, MGI:2145497, MGI:97536

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
08/19/2014
MGI 5.19
The Jackson Laboratory