Aliases for AP3S1 Gene
External Ids for AP3S1 Gene
Previous HGNC Symbols for AP3S1 Gene
Previous GeneCards Identifiers for AP3S1 Gene
This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
GeneCards Summary for AP3S1 Gene
AP3S1 (Adaptor Related Protein Complex 3 Subunit Sigma 1) is a Protein Coding gene. Diseases associated with AP3S1 include Hermansky-Pudlak Syndrome. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include transporter activity and protein transporter activity. An important paralog of this gene is AP3S2.
UniProtKB/Swiss-Prot Summary for AP3S1 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. 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.