AP3D1 - adaptor related protein complex 3 subunit delta 1 Gene

Also Known as ADTD; HPS10; hBLVR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8943

About AP3D1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,100,988-2,164,616 (from NCBI)

This gene has 20 transcripts (splice variants), 212 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 31.2), kidney (RPKM 22.6) and 25 other tissues.

Summary

The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]

AP3D1 Products (3)

mRNA	Protein	Name
NM_001261826.3	NP_001248755.1	AP-3 complex subunit delta-1 isoform 3
NM_001374799.1	NP_001361728.1	AP-3 complex subunit delta-1 isoform 4
NM_003938.8	NP_003929.4	AP-3 complex subunit delta-1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15598649	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endosome to melanosome transport	IMP IMP: Inferred from mutant phenotype	22511774	GOA
involved in protein localization to membrane	IMP IMP: Inferred from mutant phenotype	22511774	GOA
involved in zinc ion import into lysosome	IMP IMP: Inferred from mutant phenotype	17349999	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endosome membrane	IDA IDA: Inferred from direct assay	16162817	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP3D1 Protein Structure

Adaptin_N

AP3D1

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1153 a.a.

Protein Preferred Names	Protein Names
AP-3 complex subunit delta-1	AP-3 complex delta subunit, partial CDS

Related Diseases

Diseases	Alias
Hermansky-Pudlak Syndrome 10	HPS10
Albinism, Ocular, Type I	OA1 Nettleship-Falls Type Ocular Albinism Ocular Albinism Type 1 Ocular Albinism, Type I Ocular Albinism, Type I, Nettleship-Falls Type X-Linked Recessive Ocular Albinism Xloa X-Linked Ocular Albinism Ocular Albinism, Nettleship-Falls Type Albinism Ocular 1 Oa-1
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Ocular Albinism With Sensorineural Deafness OASD Deafness And Ocular Albinism Ocular Albinism With Late-Onset Sensorineural Deafness Albinism, Ocular, With Sensorineural Deafness Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism Digenic Waardenburg Syndrome/Albinism Digenic Waardenburg Syndrome/Ocular Albinism Ws2-Oa Albinism Ocular Late Onset Sensorineural Deafness Ocular Albinism With Late-Onset Sensorineural Hearing Loss Waardenburg Syndrome/Ocular Albinism, Digenic Waardenburg Syndrome/Albinism, Digenic Ocular Albinism And Sensorineural Deafness
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Oculocutaneous Albinism	Albinism, Oculocutaneous Oca Albinism Oculocutaneous Oca - [Oculocutaneous Albinism]
Developmental And Epileptic Encephalopathy 48	DEE48 Epileptic Encephalopathy, Early Infantile, 48 Eiee48 Developmental And Epileptic Encephalopathy, 48 Early Infantile Epileptic Encephalopathy 48
Developmental And Epileptic Encephalopathy 73	DEE73 Epileptic Encephalopathy, Early Infantile, 73 Eiee73 Developmental And Epileptic Encephalopathy, 73 Early Infantile Epileptic Encephalopathy 73 Rnf13-Related Severe Early-Onset Epileptic Encephalopathy Rnf13-Related Severe Eoee
Storage Pool Platelet Disease	Platelet Storage Pool Deficiency Storage Pool Disease Of Platelets Dense Body Defect Platelet Dense Granule Deficiency Platelet Storage Pool Defect Platelet Storage Pool Diseases Alpha Delta Granule Deficiency Alpha Dense Granule Deficiency Combined Alpha-Delta Platelet Storage Pool Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00791	AP3D1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	AP3D1	VGNC	VGNC:101998
Bos taurus	AP3D1	VGNC	VGNC:25988
Rattus norvegicus	AP3D1	RGD	RGD:1308659
Mus musculus	AP3D1	MGD	MGI:107734
Macaca mulatta	AP3D1	VGNC	VGNC:69969
Canis familiaris	AP3D1	VGNC	VGNC:37965
Others	AP3D1	NCBI