Name

INPP5E Gene

inositol polyphosphate-5-phosphatase, 72 kDa

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]

inpp5e Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term inpp5e in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

INPP5E Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for INPP5E from the Pathway Commons Protein-Protein Interactions dataset.

ARL13B-mediated ciliary trafficking of INPP5E Gene Set

From Reactome Pathways

proteins participating in the ARL13B-mediated ciliary trafficking of INPP5E pathway from the Reactome Pathways dataset.