Ap3d1 Gene Summary [Mouse]

Involved in anterograde synaptic vesicle transport; neurotransmitter receptor transport, postsynaptic endosome to lysosome; and synaptic vesicle budding from endosome. Acts upstream of with a positive effect on positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including antigen processing and presentation, exogenous lipid antigen via MHC class Ib; establishment of protein localization; and positive regulation of NK T cell differentiation. Located in endosome membrane and terminal bouton. Is active in glutamatergic synapse; postsynapse; and presynaptic endosome. 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, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Ap3d1
Official Name
adaptor-related protein complex 3, delta 1 subunit [Source:MGI Symbol;Acc:MGI:107734]
Ensembl ID
ENSMUSG00000020198
Bio databases IDs NCBI: 11776 Ensembl: ENSMUSG00000020198
Aliases adaptor-related protein complex 3, delta 1 subunit
Synonyms adaptor-related protein complex 3, delta 1 subunit, adaptor related protein complex 3 subunit delta 1, adaptor related protein complex 3 subunit δ 1, adaptor-related protein complex 3, δ 1 subunit, ADTD, AP3D, AP3D1 isoform 1, Ap3 δ, Bolvr, delta ADAPTIN, hBLVR, HPS10, mBLVR1, mh, mocha, δ ADAPTIN
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ap3d1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • non-SMC mitotic condensation complex subunit 1
  • AP-3 complex subunit delta-1
  • protein binding
  • Adaptin N terminal region

Pathways

Biological processes and signaling networks where the Ap3d1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • renal clear cell adenocarcinoma
  • renal clear cell cancer
  • epithelial cancer
  • Hermansky-Pudlak syndrome
  • Hermansky-Pudlak syndrome 10
  • myocardial infarction
  • idiopathic scoliosis
  • generalized epilepsy
  • kidney carcinoma
regulated by
regulates
  • IL6
  • IL1B
  • TNF
  • DNA promoter
  • DNA endogenous promoter
  • heavy metal
  • GAG
  • MHC I (complex)
  • M06
  • RNA polymerase II
role in cell
  • differentiation
  • activation
  • size
  • organization
  • production
  • function in
  • acidification

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • glutaminergic synapse
  • presynaptic regions
  • cell periphery
  • perinuclear region
  • postsynaptic region
  • cellular membrane
  • endosomes
  • Golgi Apparatus
  • trans Golgi network
  • endosomal membrane
  • dendritic spines
  • neurites
  • nerve ending
  • synaptosomes
  • perikaryon
  • axons
  • axon terminals
  • mossy fibers
  • cytoplasmic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Ap3d1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • platelet dense granule organization
  • anterograde axon cargo transport
  • intracellular transport
  • antigen processing and presentation, exogenous lipid antigen via MHC class Ib
  • positive regulation of transcription from RNA polymerase II promoter
  • intracellular protein transport
  • protein targeting to vacuole
  • Golgi to vacuole transport
  • melanosome organization
  • vesicle-mediated transport
  • synaptic vesicle budding from endosome
  • synaptic vesicle coating
  • synaptic vesicle membrane organization
  • protein localization in membrane
  • endosome to melanosome transport
  • cargo loading into clathrin-coated vesicle, AP-3-mediated
  • positive regulation of NK T cell differentiation
  • anterograde synaptic vesicle transport

Cellular Component

Where in the cell the gene product is active
  • early endosome
  • terminal button
  • membrane
  • AP-3 adaptor complex
  • Golgi membrane
  • endosome membrane
  • Golgi apparatus
  • lysosomal membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.