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FLASH GENE
Symbol IMPA1 contributors: mct - updated : 16-01-2019
HGNC name inositol(myo)-1(or 4)-monophosphatase 1
HGNC id 6050
Corresponding disease
MRT59 mental retardation, autosomal recessive 59
Location 8q21.13      Physical location : 82.569.150 - 82.598.589
Synonym name
  • lithium-sensitive myo-inositol monophosphatase A1
  • myo-inositol monophosphatase 1
  • testicular tissue protein Li 94
  • Synonym symbol(s) IMPA, MYOP, IMP
    EC.number 3.1.3.25/ 3.1.3.94
    DNA
    TYPE functioning gene
    STRUCTURE 29.44 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3287 - 198 - 2016 27440438
    9 - 3597 - 336 - 2016 27440438
    9 - 3369 - 277 - 2016 27440438
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Nervousbrainlimbic systemhippocampus highly
     brainhindbraincerebellum highly
    Reproductivemale systemtestis  highly
     male systemprostate   
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to C.elegans f13g3.5
    intraspecies homolog to IMPA2
    Homologene
    FAMILY inositol monophosphatase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • nmyo-inositol monophosphatase 1, putatively involved in response to lithium treatment
  • exhibits magnesium-dependent IMPase activity, which is inhibited by therapeutic doses of lithium
  • catalyses the hydrolysis of inositol monophosphate to inositol and is crucial in the phosphatidylinositol (PI) signalling pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism other
    signaling
    phosphate
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    magnesium Mg2+
    protein
    cell & other
    REGULATION
    activated by CALB1
    inhibited by by lithium, a drug used for the treatment of mood swings seen in bipolar disorder
    ASSOCIATED DISORDERS
    corresponding disease(s) MRT59
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    inactivation of IMPA1 can mimic some actions of lithium
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygote Impa1-/- mice died in utero between days 9.5 and 10.5 post coitum (p.c.) demonstrating the importance of Impa1 in early embryonic development