protein
AP-3 complex subunit delta-1
Gene
AP3D1
Organism
Homo sapiens(9606)
Length
1153 aa
Mass
130,158 Da
AP-3 complex subunit delta-1 (AP3D1) is a component of the AP-3 adaptor complex, which mediates vesicle budding from the Golgi region and facilitates trafficking to lysosomes. The complex also participates in CD8+ T-cell and NK cell degranulation and works with the BLOC-1 complex to target cargo into vesicles for neuronal delivery (UniProt: O14617).
AP3D1 is expressed across multiple tissues and is implicated in lysosomal storage and vesicular trafficking pathways. Loss-of-function mutations in AP3D1 cause Hermansky-Pudlak syndrome 10 (HPS10), a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding defects, lysosomal storage dysfunction, and neurological complications including seizures and developmental delay (UniProt: O14617).
AP3D1 is significantly downregulated in Alzheimer's disease brain tissue. In post-mortem AD brain compared to age-matched controls, AP3D1 shows reduced abundance with a mean log2 fold-change of −1.32 (Chaparral AD proteomics). This downregulation may reflect impaired lysosomal and vesicular trafficking capacity, processes implicated in amyloid-β and tau pathology accumulation.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
not detected
P2
not detected
S2
-1.318
S3
not detected
Mean log₂FC across detected fractions: -1.3183 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
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)
Disease associations
Hermansky-Pudlak syndrome 10HPS10
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.
Sources
Last updated 5/8/2026, 6:32:17 AM