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FLASH GENE
Symbol ELMOD1 contributors: mct - updated : 25-09-2018
HGNC name ELMO domain containing 1
HGNC id 25334
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a highly conserved arginine residue within the GAP domain was critically important to the GAP activity of ELMOD1 and ELMOD2
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus,nucleoplasm
    text
  • ELMOD1 is an Arf family GAP at the Golgi
  • basic FUNCTION
  • involved in phagocytosis and apoptosis
  • ELMOD1 and ELMOD2 recently were shown to function as GTPase-activating proteins (GAPs) for the Arf family of small G proteins
  • acts as a GTPase-activating protein for ARF6 in hair cells, and its developmentally regulated GAP activity is required to stabilize apical structures of hair cells
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ELMOD1 is a GTPase-activating protein in hair cells for the small GTP-binding protein ARF6, known to participate in actin assembly and membrane trafficking
  • by inactivating ARF6, ELMOD1 apparently controls the extent of actin remodeling in hair cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutations in Elmod1 lead to deafness and vestibular dysfunction in mice