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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
54 - 6658 - 2071 cytoplasmic membrane-bound enzyme, detected recently also in the nucleolus of several cells 2018 29386109
  • PI4K230
  • may participate in a DNase and RNase sensitive complex with a unique localization and function in the nucleolus (Kakuk 2006)
  • for nuclear import, requires a larger sequence around it or, alternatively, the monopartite NLS
    • 23 - 3054 - 854 - 2018 29386109
    54 - 6685 - 2080 - 2018 29386109
    55 - 6751 - 2102 - 2018 29386109
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly
     thyroid   highly
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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