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FLASH GENE
Symbol PI4KA contributors: mct/npt - updated : 23-11-2021
HGNC name phosphatidylinositol 4-kinase, catalytic, alpha
HGNC id 8983
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an ankyrin repeat domain
  • lipid kinase unique domain
  • pleckstrin homology (PH) domain, presumed lipid kinase/protein kinase homology domain
  • proline-rich region and SH3 domain
  • conjugated LipoP
    HOMOLOGY
    interspecies homolog to yeast PtdIns-4 kinase STT4
    Homologene
    FAMILY
  • PI3/PI4-kinase family
  • type III PI4K subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • first step in the synthesis of phosphotidylinositol 4-J biphosphate
  • does not play a significant role in the vulnerability to METH use disorder (Kanahara 2009)
  • host factor essential for hepatitis C virus replication and hence is a target for drug development
  • is essential for the maintenance of plasma membrane phosphatidylinositol 4,5-bisphosphate pools but only during strong stimulation of receptors coupled to phospholipase C activation
  • role for PI4KA in myelin formation primarily affecting metabolism of key phospholipids and the actin cytoskeleton
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling signal transduction
    mediating the action of variouss hormones
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • potential plasticity of the molecular interactions that control PI4KA localization and function
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCZD4 , SPG84 , NEDSPLB
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    is a cause of a variable phenotypical spectrum with neurological, intestinal and immunological defect
    Susceptibility to schizophrenia
    Variant & Polymorphism SNP
    Candidate gene for schizophrenia in del22q11
    Marker
    Therapy target
    ANIMAL & CELL MODELS