Aliases for INPP5E Gene
External Ids for INPP5E Gene
Previous HGNC Symbols for INPP5E Gene
Previous GeneCards Identifiers for INPP5E Gene
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.[provided by RefSeq, Feb 2011]
GeneCards Summary for INPP5E Gene
INPP5E (Inositol Polyphosphate-5-Phosphatase, 72 KDa) is a Protein Coding gene. Diseases associated with INPP5E include joubert syndrome 1 and mental retardation, truncal obesity, retinal dystrophy, and micropenis. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include inositol-polyphosphate 5-phosphatase activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is SYNJ2.
UniProtKB/Swiss-Prot for INPP5E Gene
Converts 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.