AP3D1
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 (By similarity).
Involvement in disease
Hermansky-Pudlak syndrome 10
HPS10
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the adaptor complexes large subunit family.
Tissue Specificity
Present in all adult tissues examined with the highest levels in skeletal muscle, heart, pancreas and testis.
Cellular localization
- Cytoplasm
- Golgi apparatus membrane
- Peripheral membrane protein
- Cytoplasmic side
Alternative names
PRO0039, AP3D1, AP-3 complex subunit delta-1, AP-3 complex subunit delta, Adaptor-related protein complex 3 subunit delta-1, Delta-adaptin