| Background: | 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. |
| UniProt Protein Function: | 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. |
| NCBI Summary: | 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] |
| UniProt Code: | O14617 |
| NCBI GenInfo Identifier: | 387849337 |
| NCBI Gene ID: | 8943 |
| NCBI Accession: | NP_001248755.1 |
| UniProt Secondary Accession: | O14617,O00202, O75262, Q59HF5, Q96G11, Q9H3C6, |
| UniProt Related Accession: | O14617 |
| Molecular Weight: | 136,651 Da |
| NCBI Full Name: | AP-3 complex subunit delta-1 isoform 3 |
| NCBI Synonym Full Names: | adaptor related protein complex 3 subunit delta 1 |
| NCBI Official Symbol: | AP3D1 |
| NCBI Official Synonym Symbols: | ADTD; HPS10; hBLVR |
| NCBI Protein Information: | AP-3 complex subunit delta-1 |
| UniProt Protein Name: | AP-3 complex subunit delta-1 |
| UniProt Synonym Protein Names: | AP-3 complex subunit delta; Adaptor-related protein complex 3 subunit delta-1; Delta-adaptin |
| Protein Family: | AP3-complex |
| UniProt Gene Name: | AP3D1 |
