Aliases for AP3B1 Gene
External Ids for AP3B1 Gene
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]
GeneCards Summary for AP3B1 Gene
AP3B1 (Adaptor-Related Protein Complex 3, Beta 1 Subunit) is a Protein Coding gene. Diseases associated with AP3B1 include hermansky-pudlak syndrome 2 and hermansky-pudlak syndrome. Among its related pathways are Lysosome and Clathrin derived vesicle budding. GO annotations related to this gene include protein phosphatase binding. An important paralog of this gene is AP3B2.
UniProtKB/Swiss-Prot for AP3B1 Gene
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