Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol AP4E1 contributors: mct/shn - updated : 15-03-2013
HGNC name adaptor-related protein complex 4, epsilon 1 subunit
HGNC id 573
Corresponding disease
AP4DS AP-4 deficiency syndrome
SPG51 spastic paraplegia 51
Location 15q21.2      Physical location : 51.200.945 - 51.298.097
Synonym name
  • epsilon-adaptin
  • epsilon subunit of AP-4
  • adaptor-related protein complex AP-4 epsilon
    • Synonym symbol(s) AP-4-EPSILON, DKFZp686L12167, CPSQ4, SPG51
    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