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FLASH GENE
Symbol ISYNA1 contributors: mct - updated : 05-10-2013
HGNC name inositol-3-phosphate synthase 1
HGNC id 29821
Location 19p13.11      Physical location : 18.545.197 - 18.549.111
Synonym name
  • myo-inositol 1-phosphate synthase A1
  • MI-1-P synthase
  • Myo-inositol 3-phosphate synthase
    • Synonym symbol(s) IPS, INOS, Ino1, IPS1, MIPS
    EC.number 5.5.1.4
    DNA
    TYPE functioning gene
    STRUCTURE 3.91 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure a TATA-like element, but no canonical TATA box
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2265 - 504 - 2009 1918836
    11 - 2427 61.1 558 - 2009 1918836
    8 - 2131 - 430 - 2009 1918836
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiensFetal
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemplacenta  highly
     male systemtestis  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveSertoli cell
    Reproductivespermatid
    Reproductivespermatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to murine Isyna1
    Homologene
    FAMILY
  • Myo-inositol-1-phosphate synthase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • involved in phospholipid biosynthesis, myo-inositol biosynthesis
  • catalyzes the conversion of glucose-6-phoshate to myo-inositol-1-phosphate
  • catalyzes the synthesis of myo-inositol in cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GAPDH (delivers heme to ISYNA1 through a process that is regulated by its S-nitrosylation)
    • cell & other
  • putative target for mood-stabilizing drugs such as lithium and valproate
    • REGULATION
    activated by its expression can be activated exclusively by the activator and chromatin remodelers, suggesting a dispensable role of histone acetylases in ISYNA1 induction
    Other is regulated, in part, by DNA methylation and significant alterations in methylation patterns during development could have a major impact on inositol phosphate synthase expression in later life
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    spina bifida
    Susceptibility
    Variant & Polymorphism other 1029A>G and maternal glucose <4.5 protecting against spina-bifida
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS