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FLASH GENE
Symbol FGD1 contributors: mct - updated : 29-05-2013
HGNC name FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)
HGNC id 3663
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • guanine nucleotide exchange factor (GEF) with proline rich N terminal region
  • a DBL homology domain
  • a pleckstrin homology (PH) domain
  • a FYVE -finger domain
  • cysteine rich zinc finger-like region and two potential SH3 binding sites
  • second C terminal PH homology domain
    • HOMOLOGY
    interspecies homolog to murine Fgd1
    Homologene
    FAMILY
  • CDC 42 specific GDP-GTP exchange factor family
  • Ras-like RHO/RAC guanine nucleotide exchange factors (GEF) family
    • CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microfilament
    intracellular,nucleus
    text subcortical actin cytoskeleton
    basic FUNCTION
  • involved in signal transduction and mammalian morphogenesis and in regulation of the osteoblast actin cytoskeleton
  • guanine nucleotide exchange factor specifically activating the Rho GTPase 42
  • regulator of essential signals required during embryonic development (critical in excretory cell morphogenesis
  • stimulating the mitogen activated protein kinase cascade and the RAS-like family of Rho and Rac proteins
  • guanine nucleotide exchange factor for the GTPase Cdc42, which plays important roles in cytoskeletal regulation and the organization of actin filaments (Huber 2008)
  • role in epidermal growth factor-stimulated JUN NH2-terminal kinase activation and cell migratio
  • with FGD3 play different roles to regulate cellular functions but their intracellular levels are tightly controlled by the same destruction pathway through SCF(FWD1/beta-TrCP) (Hayakawa 2008)
  • important role for FGD1/CDC42 signaling in hMSC osteogenesis
  • involvement of FGD1 in endothelial cell biology
  • might be an important regulator of events controlling extracellular matrix remodelling and possibly cell invasion in physiological and pathological settings
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • p21 GTPase CDC42 (activation)
  • cortactin (regulating the actin cytoskeleton)
  • TGFB1-regulated GEF (guanine nucleotide exchange factor) and, as such, the first GEF to be involved in the process of cytokine-induced podosome formation
  • activation of MAP3K11 specifically by FGD1/CDC42 is important for skeletal mineralization
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FGD1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS