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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
30 splicing 4887 130.2 1153 - 1999 10559961
31 splicing 4741 - 1112 - 1999 10559961
32 splicing 5073 - 1215 - 1999 10559961
- splicing - - - - 1999 10559961
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrinepancreas   highly
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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