AP3D1

Chr 19p13.3

adaptor related protein complex 3 subunit delta 1

Aliases:: ADTD
MANE:: ENST00000643116.3

OMIM: 607246 ↗NCBI: 8943 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

AP3D1 · O14617

v62025-08-01

Predicted Aligned Error matrix for AP3D1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.8/ 100

Confident

1,153 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)26%
Low(50–70)7%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

Hermansky-Pudlak syndrome 10
0.58
Hermansky-Pudlak syndrome
0.43
Hermansky-Pudlak syndrome with neutropenia
0.42
Alzheimer disease
0.42
multiple sclerosis
0.42
lysosomal storage disease
0.42
Parkinson disease
0.42
neurodegenerative disease
0.42
albinism
0.42
Decreased total neutrophil count
0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

AP-3 complex subunit delta-1

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)