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FLASH GENE
Symbol FIG4 contributors: mct - updated : 25-01-2014
HGNC name FIG4 homolog (S. cerevisiae)
HGNC id 16873
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a SAC domain
    • HOMOLOGY
    interspecies homolog to S. cerevisiae FIG4
    Homologene
    FAMILY
  • PIPPase family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • promotes neurite outgrowth in differentiating neurons through its PIPPase activity, suggesting that Sac domain PIPPase proteins may participate in forward membrane trafficking from the endoplasmic reticulum and Golgi complex to the plasma membrane, and may function as regulators of this crucial process of neuronal cell growth and differentiation
  • assembled in the PAS regulatory core complex is an active PtdIns(3,5)P(2) phosphatase
  • with PIKFYVE, constitute a single multiprotein complex organized by the PIKFYVE regulator VAC14 and its ability to homodimerize
  • expression of FIG4 in neurons is necessary and sufficient to prevent spongiform degeneration
  • lipid phosphatase that regulates intracellular abundance of the signaling phospholipid PI(3,5)P2
  • phosphoinositide phosphatase required for regulation of PI(3,5)P2 levels, and thus endosomal trafficking and autophagy
  • VAC14 acts in a complex with the lipid kinase PIKFYVE and its counteracting phosphatase FIG4, regulating the interconversion of phosphatidylinositol-3-phosphate to phosphatidylinositol-3,5-bisphosphate
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with VAC14 (enhances FIG4 abundance by attenuating FIG4 proteasome-dependent degradation)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4J , YVS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    results in spongiform degeneration
    Susceptibility to amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS)
    Variant & Polymorphism other allele of FIG4 appears to be a risk factor for ALS and PLS
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarged vacuoles in neurons
  • null mutation of Fig4 in the mouse results in spongiform degeneration of brain and peripheral ganglia, defective myelination and juvenile lethality