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FLASH GENE
Symbol EPS15 contributors: mct/npt/pgu - updated : 24-04-2009
HGNC name epidermal growth factor receptor pathway substrate 15
HGNC id 3419
Location 1p32.3      Physical location : 51.819.934 - 51.984.995
Synonym name
  • ALL1 fused gene from chromosome 1
  • endocytic adaptor protein
  • EGFR pathway substrate clone 15
    • Synonym symbol(s) AF1P, MLLT5, AF-1P
    DNA
    TYPE functioning gene
    STRUCTURE 165.06 kb     25 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 5220 98.5 896 - 2008 18395097
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Lymphoid/Immunelymph node    
     thymus   highly
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil involved in recruitment downstream of the Met receptor
  • DPF domains
  • a myosin tail
  • three EH domains (EF-Hand domain)
  • two UIM (ubiquitin-interacting motif) domains
    • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Eps15
    Homologene
    FAMILY
  • ezrin/radixin/noesin family
    • CATEGORY adaptor , signaling growth factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text
  • recruited to the plasma membrane and becomes both tyrosine-phosphorylated and ubiquitinated
  • also present at the trans-Golgi network (TGN)
    • basic FUNCTION
  • may be involved in the regulation of mitogenic signals and control of cell proliferation
  • involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR
  • likely involved in cell growth regulation
  • playing a role in clathrin-coated vesicle formation at the plasma membrane through interactions with other clathrin adaptor proteins such as AP-2 (Chi 2008)
  • plays an important role in clathrin-coated vesicle formation not only at the plasma membrane but also at the TGN during the secretory process (Chi 2008)
  • may have an important role in synaptic vesicle recycling and regulate recruitment of alpha-Adaptin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • intersectin 2 (ITSN1)
  • EGFR substrate
  • interacting with STON2
  • interact with several components of the endocytic machinery
  • intersectin and EPS15 proteins function in the same genetic pathway, and appear to function synergistically with the clathrin-coat-associated sorting protein, Disabled, for viability
  • FCHO2 regulates clathrin-mediated endocytosis through its interactions with membranes and EPS15
    • cell & other
    REGULATION
    Other regulation of its recruitment and the diversity and adaptability of endocytic molecules in promoting RTK trafficking
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with HRX (MLL) in myeloid leukemia, with translocation t(1;11)(p32;q23)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    hypomorphic Eps15 mutant in Drosophila shows reversible paralysis and an altered physiology at restrictive temperatures