Aliases for AP3D1 Gene
- Adaptor Related Protein Complex 3 Delta 1 Subunit 2 3 5
- Adaptor-Related Protein Complex 3 Subunit Delta-1 3 4
- Subunit Of Putative Vesicle Coat Adaptor Complex AP-3 3
- Adaptor-Related Protein Complex 3, Delta 1 Subunit 2
- Adapter-Related Protein Complex 3 Subunit Delta-1 3
- AP-3 Complex Delta Subunit, Partial CDS 3
- AP-3 Complex Subunit Delta-1 3
External Ids for AP3D1 Gene
Previous GeneCards Identifiers for AP3D1 Gene
The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
GeneCards Summary for AP3D1 Gene
AP3D1 (Adaptor Related Protein Complex 3 Delta 1 Subunit) is a Protein Coding gene. Diseases associated with AP3D1 include Hermansky-Pudlak Syndrome 10 and Hermansky-Pudlak Syndrome. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include binding and protein transporter activity.
UniProtKB/Swiss-Prot for AP3D1 Gene
Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). 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 (By similarity).