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Ap3d1
Gene Detail
 Symbol
Name
ID
Ap3d1
adaptor-related protein complex 3, delta 1 subunit
MGI:107734
Synonyms Bolvr, mBLVR1
Feature Type protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr10:80706978-80742211 bp, - strand
From NCBI annotation of GRCm38

  35234 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2926  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: adaptor protein complex AP-3, delta subunit
Gene Tree: Ap3d1

Human
homologs
Human Homolog AP3D1, adaptor-related protein complex 3, delta 1 subunit
NCBI Gene ID 8943
neXtProt AC  NX_O14617
Human Synonyms  ADTD, hBLVR
Human Chr (Location)  19p13.3; chr19:2100988-2151620 (-)  GRCh38
Alleles
and
phenotypes
All alleles(15) : Targeted(3) Gene trapped(9) Spontaneous(2) Chemically induced(1)
 
Mutant mice show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects and model Hermansky-Pudlak storage pool deficiency syndrome.
 
Human Diseases Modeled Using Mouse Ap3d1 (2)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component axon, cell, ...
Function protein transporter activity
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (40)    Tissues (27)    Images (13)
Theiler Stages: 19, 23, 28
Assay TypeResults
RNA in situ 40
cDNA source data(228)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(229) cDNA(228) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000020198 (Evidence)
Entrez Gene11776 (Evidence)
UniGene209294
DFCITC1572774, TC1596807, TC1611998, TC1761622
DoTSDT.101270359, DT.40166020, DT.535078, DT.94139287
NIA Mouse Gene IndexU032021
Consensus CDS ProjectCCDS35984.1
International Mouse Knockout Project StatusAp3d1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 11776 NCBI Gene Model | MGI Sequence Detail 35234 C57BL/6J ±  kb
transcript NM_007460 RefSeq | MGI Sequence Detail 4730 Not Specified 
polypeptide O54774 UniProt | EBI | MGI Sequence Detail 1199 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(7) UniProt(7)
Polymorphisms PCR(1) : SNPs within 2kb(73 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017105 Adaptor protein complex AP-3, delta subunit
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR010474 Bovine leukaemia virus receptor
InterPro IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
Protein Ontology PR:000004106 AP-3 complex subunit delta-1
Graphical View of Protein Domain Structure
References (Earliest) J:5511 Lane PW, et al., Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse. J Hered. 1974 Nov-Dec;65(6):362-4
(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(75)
Other
accession IDs
MGD-MRK-12227, MGD-MRK-36310, MGI:2143455, MGI:96979

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
04/15/2014
MGI 5.17
The Jackson Laboratory