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FLASH GENE
Symbol PI4KA contributors: mct/npt - updated : 17-06-2009
HGNC name phosphatidylinositol 4-kinase, catalytic, alpha
HGNC id 8983
Corresponding disease
SCZD4 schizophrenia 4
Location 22q11.21      Physical location : 21.061.980 - 21.213.070
Synonym name
  • phosphatidylinositol 4-kinase, catalytic, alpha polypeptide
  • PtdIns-4-kinase alpha
  • PI4-kinase alpha
  • Synonym symbol(s) PI4K-ALPHA, PIK4CA, pi4K230, PIK4, FLJ16556
    EC.number 2.7.1.67, 2.7.1.68
    DNA
    TYPE functioning gene
    STRUCTURE 151.09 kb     55 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map D22S400 - GGT2 - RANBP1 - HIRA - ATP6V1E1 - D22S927 - SERPIND1 ,CRKL - D22S446 - D22S530 - GNAZ - IGL@ - ADORA2A - GSTT2 - ASL ASL - D22S429 - D22S1154 - PITPNB - D22S1144
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    55 - 6738 231 2044 cytoplasmic membrane-bound enzyme, detected recently also in the nucleolus of several cells Kakuk (2008)
  • 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 - Kakuk (2008)
    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
    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)
  • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCZD4
    Susceptibility to schizophrenia
    Variant & Polymorphism SNP
    Candidate gene for schizophrenia in del22q11
    Marker
    Therapy target
    ANIMAL & CELL MODELS