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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
    Physical map
    CYP3A7 7q21.3-q22.1 cytochrome P450, family 3, subfamily A, polypeptide 7 CYP3A5P2 7q21.3-q22.1 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2 CYP3A4 7q21.3-q22.1 cytochrome P450, family 3, subfamily A, polypeptide 4 CYP3A43 7q21.1 cytochrome P450, family 3, subfamily A, polypeptide 43 TRIM4 7q22-q31.1 tripartite motif-containing 4 AZGP1 7q22.1 alpha-2-glycoprotein 1, zinc LOC392078 7 hypothetical gene supported by BC022382 ZNF36 7q21.3-q22.1 zinc finger protein 36 (KOX 18) ZNF38 7q21-q22 zinc finger protein 38 ZNF3 7q22.1 zinc finger protein 3 (A8-51) COPS6 7q22.1 zinc finger protein 3 (A8-51) MCM7 7q21.3-q22.1 MCM7 minichromosome maintenance deficient 7 (S. cerevisiae) AP4M1 7q22.1 adaptor-related protein complex 4, mu 1 subunit TAF6 7q11 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa MGC40499 7q22.1 hypothetical protein MGC40499 LOC255374 7q22.1 similar to hypothetical protein MGC49416 LOC392079 7 similar to ribosomal protein L7 LOC389541 7 similar to CG14977-PA FLJ10925 7q22.1 hypothetical protein FLJ10925 GAL3ST-4 7q22 hypothetical protein FLJ10925 GPC2 7q22.1 glypican 2 (cerebroglycan) STAG3 7q22 stromal antigen 3 GATS 7q22.1 opposite strand transcription unit to STAG3 LOC392080 7 similar to opposite strand transcription unit to Stag3; Gats protein PILRB 7q22.1 paired immunoglobin-like type 2 receptor beta PILRA 7q22 paired immunoglobin-like type 2 receptor alpha ZCWPW1 7q22.1 zinc finger, CW-type with PWWP domain 1 FLJ20257 7q22.1 hypothetical protein FLJ20257 MGC22793 7q22.1 hypothetical protein MGC22793 THG-1 7p21-p15 TSC-22-like FLJ37538 7q22.1 hypothetical protein FLJ37538
    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