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FLASH GENE
Symbol AP4B1 contributors: npt/shn - updated : 06-02-2012
HGNC name adaptor-related protein complex 4, beta 1 subunit
HGNC id 572
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , tetramer
HOMOLOGY
interspecies ortholog to Ap4b1, Mus musculus
ortholog to Ap4b1, Rattus norvegicus
ortholog to AP4B1, Pan troglodytes
Homologene
FAMILY
  • adaptor complexes large subunits family
    • CATEGORY adaptor , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • mediating protein sorting in the endocytic and late secretory pathways (
  • involved in targeting proteins from the trans Golgi network to the endosomal-lysosomal system
  • a crucial role in brain development and functioning (
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • non selective vesicle transport
  • associated with the trans Golgi network
    • PATHWAY
    metabolism
    signaling
    a component
  • a role in signal-mediated trafficking of integral membrane proteins in mammalian cells
  • subunit of a novel type of clathrin-associted protein coat
  • heterotetramer composed of two large chains (epsilon/AP4E1 and beta/AP4B1), a medium chain (MU/AP4M1) and a small chain (sigma AP4S1)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • epsilon subunit of AP-4 (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG47 , CPSQ5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS