AP3D1 (adaptor related protein complex 3 subunit delta 1)

2003-11-01 Affiliation

Identity

HGNC

AP3D1

LOCATION

19p13.3

LOCUSID

8943

ALIAS

ADTD,HPS10,hBLVR

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000065000	ENST00000345016	O14617
ENSG00000065000	ENST00000586370	K7ERW8
ENSG00000065000	ENST00000589369	K7ELX8
ENSG00000065000	ENST00000590683	A0A087WYN6
ENSG00000065000	ENST00000591284	A0A2R8YCY8
ENSG00000065000	ENST00000643010	A0A2R8Y4J3
ENSG00000065000	ENST00000643116	O14617
ENSG00000065000	ENST00000644728	A0A2R8Y611

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142

References

Pubmed ID	Year	Title	Citations
15766529	2005	AP-3 directs the intracellular trafficking of HIV-1 Gag and plays a key role in particle assembly.	127
16162817	2005	Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes.	109
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18034776	2008	HIV-1 replication in dendritic cells occurs through a tetraspanin-containing compartment enriched in AP-3.	35
24916648	2015	A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.	12
20198315	2010	Association of genetic variants with hemorrhagic stroke in Japanese individuals.	11
22705971	2012	The HIV-1 matrix protein does not interact directly with the protein interactive domain of AP-3δ.	5
19481122	2009	Association analysis between schizophrenia and the AP-3 complex genes.	4
19851296	2010	Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.	3
30472485	2019	Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.	3

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