Ap3d1 - adaptor-related protein complex 3, delta 1 subunit Gene

Mus musculus

Also known as mh; Ap3d; Bolvr; mocha; mBLVR1

Gene ID: 11776 | Gene type: protein coding

About Ap3d1

Summary

Involved in anterograde synaptic vesicle transport; neurotransmitter receptor transport, postsynaptic endosome to lysosome; and synaptic vesicle budding from endosome. Acts upstream of or within several processes, including antigen processing and presentation, exogenous lipid antigen via MHC class Ib; positive regulation of NK T cell differentiation; and synaptic vesicle membrane organization. Located in endosome; postsynapse; and terminal bouton. Is active in glutamatergic synapse and presynapse. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 2; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human AP3D1 (adaptor related protein complex 3 subunit delta 1). [provided by Alliance of Genome Resources, Apr 2022]

Ap3d1 Products(1)

mRNA	Protein	Name
NM_007460.2	NP_031486.1	AP-3 complex subunit delta-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25808614	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in anterograde axonal transport	IMP IMP: Inferred from mutant phenotype	21998198	MGI
involved in anterograde synaptic vesicle transport	IMP IMP: Inferred from mutant phenotype	21998198	MGI
acts upstream of or within antigen processing and presentation	IMP IMP: Inferred from mutant phenotype	14557411	MGI
acts upstream of or within antigen processing and presentation, exogenous lipid antigen via MHC class Ib	IMP IMP: Inferred from mutant phenotype	14557411	MGI
acts upstream of positive effect interferon-alpha production	IMP IMP: Inferred from mutant phenotype	20847273	MGI
acts upstream of or within intracellular protein transport	IMP IMP: Inferred from mutant phenotype	14557411	MGI
involved in neurotransmitter receptor transport, postsynaptic endosome to lysosome	IDA IDA: Inferred from direct assay	24217640	MGI
involved in neurotransmitter receptor transport, postsynaptic endosome to lysosome	IEP IEP: Inferred from expression pattern	24217640	MGI
involved in neurotransmitter receptor transport, postsynaptic endosome to lysosome	IMP IMP: Inferred from mutant phenotype	24217640	MGI
acts upstream of or within positive regulation of NK T cell differentiation	IMP IMP: Inferred from mutant phenotype	14557411	MGI
acts upstream of positive effect positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20847273	MGI
acts upstream of or within protein localization to organelle	IMP IMP: Inferred from mutant phenotype	15860731	MGI
acts upstream of or within protein targeting	IMP IMP: Inferred from mutant phenotype	16760431	MGI
involved in synaptic vesicle budding from endosome	IDA IDA: Inferred from direct assay	11588176	MGI
involved in synaptic vesicle budding from endosome	IMP IMP: Inferred from mutant phenotype	11588176	MGI
acts upstream of or within synaptic vesicle membrane organization	IMP IMP: Inferred from mutant phenotype	15860731	MGI
involved in vesicle-mediated transport in synapse	IDA IDA: Inferred from direct assay	24217640	MGI
involved in vesicle-mediated transport in synapse	IEP IEP: Inferred from expression pattern	24217640	MGI
involved in vesicle-mediated transport in synapse	IMP IMP: Inferred from mutant phenotype	24217640	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in axon	IDA IDA: Inferred from direct assay	20089890	MGI
located in endosome membrane	IDA IDA: Inferred from direct assay	16162817	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	24217640	MGI
is active in glutamatergic synapse	IEP IEP: Inferred from expression pattern	24217640	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	24217640	MGI
is active in postsynapse	IDA IDA: Inferred from direct assay	20089890	MGI
is active in presynapse	IDA IDA: Inferred from direct assay	20089890	MGI
is active in presynaptic endosome	IDA IDA: Inferred from direct assay	19144828	MGI
located in terminal bouton	IDA IDA: Inferred from direct assay	20089890	MGI

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

Protein Preferred Names

Protein Names

AP-3 complex subunit delta-1

AP-3 complex subunit delta	adapter-related protein complex 3 subunit delta-1
adaptor-related protein complex 3 subunit delta-1	adaptor-related protein complex 3, delta subunit
adaptor-related protein complex AP-3, delta subunit	delta-adaptin

Related Agents

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
Homo sapiens	Ap3d1	NCBI	NCBI:8943

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