Structural highlights
Disease
AP3B1_HUMAN Hermansky-Pudlak syndrome due to AP3B1 deficiency. The disease is caused by variants affecting the gene represented in this entry.
Function
AP3B1_HUMAN 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.[1]
References
- ↑ Simpson F, Peden AA, Christopoulou L, Robinson MS. Characterization of the adaptor-related protein complex, AP-3. J Cell Biol. 1997 May 19;137(4):835-45. doi: 10.1083/jcb.137.4.835. PMID:9151686 doi:http://dx.doi.org/10.1083/jcb.137.4.835
