Aliases for AP3B1 Gene
External Ids for AP3B1 Gene
Previous GeneCards Identifiers 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 Platelet Storage Pool Deficiency. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include binding and GTP-dependent protein 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.