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FLASH GENE
Symbol AP4M1 contributors: mct/npt - updated : 25-08-2009
HGNC name adaptor-related protein complex 4, mu 1 subunit
HGNC id 574
Corresponding disease
SPG50 spastic paraplegia 50
Location 7q22.1      Physical location : 99.699.129 - 99.704.802
Synonym name
  • AP-4 adapter complex mu subunit
  • mu-adaptin-related protein-2
  • mu subunit of AP-4
  • Synonym symbol(s) MU-4, MU-ARP2
    DNA
    TYPE functioning gene
    STRUCTURE 5.67 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 1886 49.8 453 - Verkerk (2009)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   lowly
    Reproductivemale systemtestis  highly
    Respiratorylung   lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies ortholog to murine Ap4m1
    Homologene
    FAMILY
  • adaptor complexes medium subunit family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • involved in the recognition and the sorting of cargo proteins with tyrosin-based motifs from the trans-Golgi network to the endosomal-lysosomal system
  • involved in intracellular trafficking of glutamate receptors (Verkerk 2009)
  • CELLULAR PROCESS protein, post translation, targeting
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterotetramerized with AP4B1, AP4E1, AP4S1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding specifically to tyrosin-based sorting signal
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG50
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS