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FLASH GENE
Symbol EPG5 contributors: mct - updated : 24-01-2023
HGNC name ectopic P-granules autophagy protein 5 homolog (C. elegans)
HGNC id 29331
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a coiled-coil domain critical for ESC identity maintenance
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nuclear envelope
    basic FUNCTION
  • potential immunogenic cancer antigen
  • essential for starvation-induced autophagy
  • mediates the fusion of autophagosomes with lysosomes
  • EPG5, by controlling nucleic acids intracellular trafficking, links macroautophagy/autophagy to innate and adaptive immunity
  • EPG5 is essential for ESC self-renewal and pluripotency
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EPG5 is a RAB7A effector that determines the fusion specificity of autophagosomes with late endosomes/lysosomes
  • USP8 binds to the Coiled-coil domain of EPG5
  • USP8 directly deubiquitinates EPG5
  • EPG5 binds preferentially to members of the GABARAP subfamily of human ATG8 proteins critical to autophagosome-lysosome fusion
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VICIS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast and cervical cancer
    constitutional       loss of function
    causes abnormal fusion of autophagosomes with various endocytic vesicles, in part due to elevated assembly of STX17-SNAP25-VAMP8 complexes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS