Homo sapiens Gene: AP3B1
Summary
InnateDB Gene IDBG-30467.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AP3B1
Gene Name adaptor-related protein complex 3, beta 1 subunit
Synonyms ADTB3; ADTB3A; HPS; HPS2; PE;
Species Homo sapiens
Ensembl Gene ENSG00000132842
Encoded Proteins
adaptor-related protein complex 3, beta 1 subunit
adaptor-related protein complex 3, beta 1 subunit
adaptor-related protein complex 3, beta 1 subunit
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
AP3B1 (AP-3), a lysosome-related organelle trafficking and biogenesis protein, is required for the production of pro-inflammatory cytokines in plasmacytoid dendritic cells upon recognition of viral nucleic acids by endosomal TLR7 or TLR9.
AP3B1 is crucial for the trafficking of TLR9 to specific endosomal compartments for the induction of type I interferon.
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Ap3b1 (AP-3), a lysosome-related organelle trafficking and biogenesis protein, is required for the production of pro-inflammatory cytokines in plasmacytoid dendritic cells upon recognition of viral nucleic acids by endosomal Tlr7 or Tlr9.
[Mus musculus] Ap3b1 is crucial for the trafficking of Tlr9 to specific endosomal compartments for the induction of type I interferon.
[Mus musculus] Cytokine activation as a result of Tlr2 stimulation is mediated by the phagosomal trafficking molecule Ap3b1 (AP-3).
Entrez Gene
Summary This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:78000525-78294755
Strand Reverse strand
Band q14.1
Transcripts
ENST00000255194 ENSP00000255194
ENST00000519295 ENSP00000430597
ENST00000522901 ENSP00000429228
ENST00000520122
ENST00000523204
ENST00000519888
ENST00000517940
ENST00000517561
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 22 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0019903 protein phosphatase binding
GO:0030742 GTP-dependent protein binding
Biological Process
GO:0006622 protein targeting to lysosome
GO:0006886 intracellular protein transport
GO:0007596 blood coagulation
GO:0008089 anterograde axon cargo transport
GO:0016192 vesicle-mediated transport
GO:0019882 antigen processing and presentation
GO:0032438 melanosome organization
GO:0045087 innate immune response (InnateDB)
GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib
GO:0048490 anterograde synaptic vesicle transport
GO:0051138 positive regulation of NK T cell differentiation
Cellular Component
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0030117 membrane coat
GO:0030123 AP-3 adaptor complex
GO:0030665 clathrin-coated vesicle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
trans-Golgi Network Vesicle Budding pathway
Clathrin derived vesicle budding pathway
Golgi Associated Vesicle Biogenesis pathway
Membrane Trafficking pathway
KEGG
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 8546
UniGene Hs.532091 Hs.561391 Hs.735481
RefSeq NM_001271769 NM_003664 XM_005248618 XM_005248619
HUGO HGNC:566
OMIM 603401
CCDS CCDS4041 CCDS64186
HPRD 04551
IMGT
EMBL
GenPept
RNA Seq Atlas 8546