INPP5E

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. [provided by RefSeq, Jan 2016]

Description

Inositol polyphosphate-5-phosphatase E

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Focal adhesion sites

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

9 (136428619 - 136439845)

Ensembl ID

ENSG00000148384  (ver. 103.38)

Orthologs

Mouse Inpp5e: ENSMUSG00000026925

UniProt

Q9NRR6

neXtProt

NX_Q9NRR6

Human splice variants
Mouse splice variants

Protein structure