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; chr19:2100987-2151556 (-)  GRCh37.p10

Alleles and phenotypes

All alleles(14) : Targeted(3) Gene trapped(9) Spontaneous(2)
 

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: (27 annotations)

Process	anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component	axon, cytoplasm, ...
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 Type	Results
RNA in situ	40

cDNA source data(229)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(230) cDNA(229) Primer pair(1)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000020198 (Evidence)
Entrez Gene	11776 (Evidence)
UniGene	209294
DFCI	TC1572774, TC1596807, TC1611998, TC1761622
DoTS	DT.101270359, DT.40166020, DT.535078, DT.94139287
NIA Mouse Gene Index	U032021
Consensus CDS Project	CCDS35984.1
International Mouse Knockout Project Status	Ap3d1

Sequences

Length	Strain/Species
genomic	11776	NCBI Gene Model | MGI Sequence Detail	35234	C57BL/6J
transcript	NM_007460	RefSeq | MGI Sequence Detail	4730	Not Specified
polypeptide	O54774	UniProt | EBI | MGI Sequence Detail	1199	Not Applicable

All sequences(51) RefSeq(2) UniProt(7)

Polymorphisms

PCR(1) : SNPs(72 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190426 Muthusamy N, et al., Calcyon, a mammalian specific NEEP21 family member, interacts with adaptor protein complex 3 (AP-3) and regulates targeting of AP-3 cargoes. J Neurochem. 2012 Oct;123(1):60-72
All references(72)

Other accession IDs

MGD-MRK-12227, MGD-MRK-36310, MGI:2143455, MGI:96979