Homo sapiens Protein: AP3B1
InnateDB Protein IDBP-30471.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AP3B1
Protein Name adaptor-related protein complex 3, beta 1 subunit
Synonyms ADTB3; ADTB3A; HPS; HPS2; PE;
Species Homo sapiens
Ensembl Protein ENSP00000255194
InnateDB Gene IDBG-30467 (AP3B1)
Protein Structure
UniProt Annotation
Function Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.
Subcellular Localization Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.
Disease Associations Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. {ECO:0000269PubMed:10024875}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed. {ECO:0000269PubMed:9151686, ECO:0000269PubMed:9182526}.
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
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
Protein Structure and Domains
InterPro IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
IPR016024 Armadillo-type fold
IPR026740 AP-3 complex subunit beta
PFAM PF01602
Post-translational Modifications
SwissProt O00203
PhosphoSite PhosphoSite-O00203
UniProt Splice Variant
Entrez Gene 8546
UniGene Hs.735481
RefSeq NP_003655
OMIM 603401
HPRD 04551
EMBL AC024568 AC024578 AC104108 AC112197 AF247736 BC038444 BX538041 U81504 U91931
GenPept AAB61638 AAD03778 AAG01739 AAH38444 CAD97982