Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FIG4 contributors: mct - updated : 25-01-2014
HGNC name FIG4 homolog (S. cerevisiae)
HGNC id 16873
Corresponding disease
CMT4J Charcot-Marie-Tooth disease, type J
YVS Yunis-Varon syndrome
Location 6q21      Physical location : 110.012.423 - 110.146.634
Synonym name
  • sac domain-containing inositol phosphatase 3
  • FIG4 homolog
  • KIAA0274 protein
  • Synonym symbol(s) SAC3, hSac3, dJ249I4.1, KIAA0274, RP1-249I4.1
    DNA
    TYPE functioning gene
    STRUCTURE 134.00 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3089 103 907 - 2007 17909536
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  moderately
    Lymphoid/Immunespleen   highly
    Respiratoryrespiratory tractlarynx  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    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