Identity
HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
ADTD,HPS10,hBLVR
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8943
MIM: 607246
HGNC: 568
Ensembl: ENSG00000065000
Variants:
dbSNP: 8943
ClinVar: 8943
TCGA: ENSG00000065000
COSMIC: AP3D1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Lysosome | KEGG | ko04142 |
| Lysosome | KEGG | hsa04142 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36445457 | 2023 | A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation. | 1 |
| 36445457 | 2023 | A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation. | 1 |
| 33886957 | 2021 | A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers. | 6 |
| 34166600 | 2021 | Connecting COPD GWAS Genes: FAM13A Controls TGFβ2 Secretion by Modulating AP-3 Transport. | 4 |
| 33886957 | 2021 | A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers. | 6 |
| 34166600 | 2021 | Connecting COPD GWAS Genes: FAM13A Controls TGFβ2 Secretion by Modulating AP-3 Transport. | 4 |
| 30472485 | 2019 | Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. | 16 |
| 30472485 | 2019 | Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. | 16 |
| 24916648 | 2015 | A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. | 25 |
| 24916648 | 2015 | A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. | 25 |
| 22705971 | 2012 | The HIV-1 matrix protein does not interact directly with the protein interactive domain of AP-3δ. | 6 |
| 22705971 | 2012 | The HIV-1 matrix protein does not interact directly with the protein interactive domain of AP-3δ. | 6 |
| 19851296 | 2010 | Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. | 7 |
| 20198315 | 2010 | Association of genetic variants with hemorrhagic stroke in Japanese individuals. | 17 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
AP3D1 (adaptor related protein complex 3 subunit delta 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/664/ap3d1-(adaptor-related-protein-complex-3-subunit-delta-1)
