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FLASH GENE
Symbol AP3D1 contributors: mct/npt - updated : 27-01-2017
HGNC name adaptor-related protein complex 3, delta 1 subunit
HGNC id 568
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , tetramer
HOMOLOGY
interspecies homolog to murine Ap3d
Homologene
FAMILY
  • adaptator complexes large subunit family
    • CATEGORY adaptor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • vesicle coat protein
    • basic FUNCTION
  • involved in intracellular transport
  • eye pigment biosynthesis
  • faciliting the budding of vesicles from the Golgi membrane
  • involved in trafficking to lysosomes
  • could be involved in the regulation of progenitor cell competence and the eventual ratio of resulting differentiated cells
  • plays an alternative role in HIV-1 assembly
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text
  • vesicle transport
    • PATHWAY
    metabolism
    signaling
    a component
  • component of the AP-3 complex being an heterotetramer
  • composed of two large chains (delta and beta 3), a medium chain (mu3) and a small chain (sigma 3)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • complex associated with the Golgi region as well as more peripheral structures
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPS10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    reduced significantly viral particle release from HIV-1-infected dendritic cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ap3d-deletion mutant (Mocha) mouse undergoes rapid photoreceptor degeneration leading to blindness soon after birth