Recombinant Human 72 kDa inositol polyphosphate 5-phosphatase (INPP5E)

Uniprot Id

Q9NRR6

Target Species

Human

Target Name

INPP5E

Target Full Name

Phosphatidylinositol polyphosphate 5-phosphatase type IV

Target Function

Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Specific for lipid substrates, inactive towards water soluble inositol phosphates. Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability.

Target Involvement

Joubert syndrome 1 (JBTS1); Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS)

Target Subcellular Location

Cytoplasm, cytoskeleton, cilium axoneme. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle. Cytoplasm. Nucleus.

Target Protein Families

Inositol 1,4,5-trisphosphate 5-phosphatase type IV family

Target Tissue Specificity

Detected in brain, heart, pancreas, testis and spleen.

Target Synonyms

5-bisphosphate 5-phosphatase; 72 kDa inositol polyphosphate 5-phosphatase; Inositol polyphosphate 5 phosphatase; INP5E_HUMAN; Inpp5e; Phosphatidylinositol (4,5) bisphosphate 5 phosphatase; Phosphatidylinositol 4; Phosphatidylinositol polyphosphate 5 phosphatase type IV; Phosphatidylinositol polyphosphate 5-phosphatase type IV; PPI5PIV

Target Background

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. Alternative splicing results in multiple transcript variants encoding different isoforms.