AP3D1
Adaptor Related Protein Complex 3 Subunit Delta 1
Gene Information Card
| Symbol | AP3D1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 3 Subunit Delta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 8943 ncbi.nlm.nih.gov/gene/8943 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | O14617 |
| OMIM ID | 607246 |
| HGNC ID | 568 |
| Aliases | ADTD, AP-3 complex subunit delta-1, HPS10 |
Description
AP3D1 encodes the delta subunit of the heterotetrameric adaptor protein complex 3 (AP-3), which plays a critical role in intracellular vesicle trafficking, particularly in the formation of lysosome-related organelles. Mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 (HPS10), characterized by oculocutaneous albinism, bleeding diathesis, and immunodeficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 10 (HPS10) | Loss-of-function mutations in AP3D1 disrupt AP-3 complex assembly, impairing trafficking of cargo proteins to lysosomes and melanosomes, leading to albinism, platelet storage pool deficiency, and immune defects. | OMIM #617050; ClinVar; PMID: 27588451 |
| Albinism, oculocutaneous, with immunodeficiency | Same mechanism as HPS10; AP3D1 deficiency prevents proper localization of tyrosinase and other melanosomal enzymes, and impairs cytotoxic T lymphocyte function. | OMIM #617050; PMID: 27588451 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 6.5 | Medium |
| Spleen | 7.1 | Medium |
| Testis | 5.8 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.3 | High expression |
| HeLa | 7.8 | Medium expression |
| K562 | 6.2 | Medium expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3052C>T (p.Arg1018*) | Nonsense | Rare | Loss of function; premature termination, likely nonsense-mediated decay |
| c.2083_2084del (p.Gln695Valfs*12) | Frameshift | Rare | Loss of function; truncated protein lacking critical C-terminal domain |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; translation initiation failure |
Mutation functional classification
Loss of Function (LOF)
Most reported AP3D1 mutations are loss-of-function, leading to AP-3 complex instability and impaired intracellular trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport | • vesicle-mediated transport |
| • lysosomal transport | • protein targeting to lysosome |
| • AP-3 adaptor complex | • clathrin adaptor activity |
Pathways
• Lysosome (KEGG: hsa04142)
• Endocytosis (KEGG: hsa04144)
• AP-3 complex mediated transport (Reactome: R-HSA-432722)
Protein Summary
The AP3D1 protein (delta-adaptin) is a 1,194-amino-acid subunit of the AP-3 complex. It functions as a scaffold for clathrin-independent vesicle formation, mediating cargo selection and trafficking from the trans-Golgi network to lysosomes and lysosome-related organelles. The delta subunit is essential for complex stability and membrane recruitment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP3D1 Knockout HEK293 Cell Line | EDJ-KQ6413 | Human | 8943 | Details Get a Quote |
| AP3D1 Knockout HCT 116 Cell Line | EDJ-KQ29125 | Human | 8943 | Details Get a Quote |
| AP3D1 Knockout A-549 Cell Line | EDJ-KQ30454 | Human | 8943 | Details Get a Quote |
| AP3D1 Knockout HeLa Cell Line | EDJ-KQ30456 | Human | 8943 | Details Get a Quote |
