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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
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systembreast   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text primitive neuroectoderm
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