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FLASH GENE
Symbol AP4E1 contributors: mct/shn - updated : 15-03-2013
HGNC name adaptor-related protein complex 4, epsilon 1 subunit
HGNC id 573
DNA
TYPE functioning gene
STRUCTURE 97.23 kb     21 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
21 splicing 6768 127 1137 - 2001 11707398
19 splicing 6791 - 1062 - -
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a polyleucine domain
    • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies ortholog to murine Ap4e1
    Homologene
    FAMILY
  • AP-complex family
    • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • localizes to the cytoplasmic face of the trans-Golgi network (TGN)
    • basic FUNCTION
  • involved in the recognition and the sorting of cargo proteins with tyrosin-based motifs from trans-Golgi network to the endosomal-lysosomal system
  • crucial role of AP4-mediated trafficking in brain development and functioning
    • CELLULAR PROCESS protein, post translation, targeting
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterotetramerized with AP4B1, AP4M1, AP4S1
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds only to ARF1-GTP and requires residues in the switch I and switch II regions of ARF1
  • AP4B1, AP4M1, and AP4S1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AP4DS , SPG51
    Susceptibility to familial persistent stuttering
    Variant & Polymorphism other rare coding variants in AP4E1, implicated in the genesis of familial persistent stuttering
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS