LMPD Database

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LMP002353

UniProt Annotations

Entry Information
Gene Nameinositol polyphosphate-5-phosphatase, 72 kDa
Protein EntryINP5E_HUMAN
UniProt IDQ9NRR6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NRR6-1; Sequence=Displayed; Name=2; IsoId=Q9NRR6-2; Sequence=VSP_009799;
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
DiseaseJoubert syndrome 1 (JBTS1) [MIM
DiseaseMental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM
Enzyme RegulationActive in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB.
FunctionConverts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5- bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates.
Sequence CautionSequence=AAB03215.1; Type=Miscellaneous discrepancy; Note=Several sequencing problems.; Evidence= ;
SimilarityBelongs to the inositol 1,4,5-trisphosphate 5- phosphatase type IV family.
Subcellular LocationCytoplasm, cytoskeleton, cilium axoneme {ECO
SubunitInteracts (when prenylated) with PDE6D; this is important for normal location in cilia.
Tissue SpecificityDetected in brain, heart, pancreas, testis and spleen.