PMID:16837549

Citation	Di Pietro, SM, Falcón-Pérez, JM, Tenza, D, Setty, SR, Marks, MS, Raposo, G and Dell'Angelica, EC (2006) BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol. Biol. Cell 17:4027-38
Abstract	The adaptor protein (AP)-3 complex is a component of the cellular machinery that controls protein sorting from endosomes to lysosomes and specialized related organelles such as melanosomes. Mutations in an AP-3 subunit underlie a form of Hermansky-Pudlak syndrome (HPS), a disorder characterized by abnormalities in lysosome-related organelles. HPS in humans can also be caused by mutations in genes encoding subunits of three complexes of unclear function, named biogenesis of lysosome-related organelles complex (BLOC)-1, -2, and -3. Here, we report that BLOC-1 interacts physically and functionally with AP-3 to facilitate the trafficking of a known AP-3 cargo, CD63, and of tyrosinase-related protein 1 (Tyrp1), a melanosomal membrane protein previously thought to traffic only independently of AP-3. BLOC-1 also interacts with BLOC-2 to facilitate Tyrp1 trafficking by a mechanism apparently independent of AP-3 function. Both BLOC-1 and -2 localize mainly to early endosome-associated tubules as determined by immunoelectron microscopy. These findings support the idea that BLOC-1 and -2 represent hitherto unknown components of the endosomal protein trafficking machinery.
Links	PubMed PMC1593172 Online version:10.1091/mbc.E06-05-0379
Keywords	Adaptor Protein Complex 3/metabolism; Animals; Antigens, CD/metabolism; Antigens, CD63; Carrier Proteins/metabolism; Cell Membrane/metabolism; Cells, Cultured; Endosomes/metabolism; Fibroblasts/cytology; Fibroblasts/ultrastructure; HeLa Cells; Humans; Immunoprecipitation; Melanocytes/cytology; Membrane Glycoproteins/metabolism; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Models, Biological; Multiprotein Complexes/metabolism; Oxidoreductases/metabolism; Platelet Membrane Glycoproteins/metabolism; Protein Binding; Protein Subunits/metabolism; Protein Transport
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Annotations

Gene product	Qualifier	GO Term	Evidence Code	with/from	Aspect	Extension	Notes	Status
MOUSE:BL1S3	incorrect (CACAO)	GO:0008320: protein transmembrane transporter activity	ECO:0000315: mutant phenotype evidence used in manual assertion		F		Incorrect annotation, see discussion page for explanation.	complete CACAO 2001
MOUSE:BL1S1	part_of	GO:0005769: early endosome	ECO:0000314: direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
MOUSE:BL1S1		GO:0005769: early endosome	ECO:0000314:		C		Fig. 3	complete CACAO 2537
MOUSE:AP3S1	part_of	GO:0016020: membrane	ECO:0000315: mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
MOUSE:AP3S1		GO:0016020: membrane	ECO:0000315:		C		Fig. 2	complete CACAO 2536

References

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