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FLASH GENE
Symbol FGD4 contributors: mct - updated : 22-04-2011
HGNC name FYVE, RhoGEF and PH domain containing 4
HGNC id 19125
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one F-actin binding (FAB) domain
  • a Dbl homology (DH) domain in tandem with a pleckstrin homology (PH) domain
  • multiple phosphoinositide-binding domains, including two pleckstrin homology (PH) domains
  • a FYVE or FERM domain (
    • HOMOLOGY
    interspecies ortholog to murine P52734
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text membranes ruffles and lamellipodia
    basic FUNCTION
  • forming filopodia through direct activation of Cdc42 and lamellipodia through indirect activation of Rac small G protein
  • modulate the actin cytoskeleton, being Cdc42-specific exchange factors (Huber 2008)
  • GEF specific for Cdc42, a Rho GTPase involved in the reorganization of not only actin microfilaments but also the microtubule cytoskeleton
  • GDP/GTP exchange protein for CDC42 with actin filament (F-actin)-binding activity
  • might have a role in early stages of myelination
  • associates with a specific membrane structure(s) and induces the indirect activation of Rac in the vicinity of this structure(s), resulting in the reorganization of the actin cytoskeleton (
  • directly and indirectly can reorganizes the actin cytoskeleton through its F-actin-binding and Cdc42-activating activities, respectively, in a cooperative manner, eventually leading to microspike formation (
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4H
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS