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MGP005983

UniProt Annotations

Entry Information
Gene Nameinositol-trisphosphate 3-kinase C
Protein EntryIP3KC_HUMAN
UniProt IDQ96DU7
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate.
DiseaseKawasaki disease (KWD) [MIM:611775]: An acute, self- limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. {ECO:0000269|PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivated by calcium/calmodulin. Inhibited by high concentrations of the substrate Ins(1,2,4)P3, and allosterically activated by the product Ins(1,3,4,5)P4. {ECO:0000269|PubMed:11085927}.
FunctionCan phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate. {ECO:0000250}.
SimilarityBelongs to the inositol phosphokinase (IPK) family. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000269|PubMed:12747803}. Cytoplasm {ECO:0000269|PubMed:12747803}. Note=Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity.
Tissue SpecificityHighly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain. {ECO:0000269|PubMed:11085927}.
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