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 rat; 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; chr5:77298150-77590528 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human AP3B1

Alleles and phenotypes

All alleles(53) : Targeted(4) Gene trapped(34) Spontaneous(14) Chemically induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (21 annotations)

Process	anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component	AP-3 adaptor complex, cytoplasmic vesicle, ...
Function	protein phosphatase binding

External Resources: FuncBase

Expression

cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(29) Genomic(12) cDNA(13) Primer pair(4)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000021686 (Evidence)
Entrez Gene	11774 (Evidence)
DFCI	TC1574859, TC1595241, TC1657759
DoTS	DT.110961129, DT.110961141, DT.40187050, DT.534373
NIA Mouse Gene Index	U015128
Consensus CDS Project	CCDS26693.1
International Mouse Knockout Project Status	Ap3b1

Sequences

Length	Strain/Species
genomic	11774	NCBI Gene Model | MGI Sequence Detail	207357	C57BL/6J
transcript	NM_009680	RefSeq | MGI Sequence Detail	4020	C57BL/6
polypeptide	Q9Z1T1	UniProt | EBI | MGI Sequence Detail	1105	Not Applicable

All sequences(61) RefSeq(2) UniProt(4)

Polymorphisms

PCR(4) : SNPs(1380 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191056 Henault J, et al., Noncanonical Autophagy Is Required for Type I Interferon Secretion in Response to DNA-Immune Complexes. Immunity. 2012 Dec 14;37(6):986-97
All references(110)

Other accession IDs

MGD-MRK-13224, MGI:1197525, MGI:2145332, MGI:2145497, MGI:97536