ITPKC Antibody – Rabbit Polyclonal

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]

Function: Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate

By similarity.

Catalytic activity: ATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate.

Enzyme regulation: Activated 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. Ref.1

Subcellular location: Nucleus. Cytoplasm. Note: Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity. Ref.5

Tissue specificity: Highly expressed in pancreas, skeletal muscle, liver, placenta and weakly in kidney and brain. Ref.1

Involvement in disease: Kawasaki 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities: Belongs to the inositol phosphokinase (IPK) family.