Version: 8.0.0
Date: Tue Jan 28 2025
Ap3d1
Mus musculusMGI:107734
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ap3d1

Species
Mus musculus
Symbol
Ap3d1
Name
adaptor-related protein complex 3, delta 1 subunit
Synonyms
  • AA407035
  • Ap3d
Biotype
protein coding gene
Automated Description
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).
MGI Description
PHENOTYPE: Mutant mice show coat and eye color dilution, platelet defects, lysosomal abnormalities, inner ear degeneration and neurological defects and model Hermansky-Pudlak storage pool deficiency syndrome. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22781
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Ap3d1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Ap3d1 role
            Ap3d1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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