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FLASH GENE
Symbol AP1S3 contributors: mct - updated : 12-05-2014
HGNC name adaptor-related protein complex 1, sigma 3 subunit
HGNC id 18971
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a single FYVE domain
  • multiple WD40 repeats
  • HOMOLOGY
    Homologene
    FAMILY adaptor complexes small subunit family
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • playing a role in protein sorting in the late-Golgi / trans-Golgi network (TGN) and/or endosomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PUPSO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    disrupted the endosomal translocation of the innate pattern-recognition receptor TLR3 and resulted in a marked inhibition of downstream signaling
    Susceptibility to osteoporosis
    Variant & Polymorphism SNP
  • rs6436440 and rs2291296, were located in the genes AP1S3, associated with variation of bone mineral density and osteoporosis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS