INPP5E

Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000269|PubMed:10764818}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

negative regulation of protein localization to cilium
inositol-polyphosphate 5-phosphatase activity
regulation of protein localization to cilium
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
inositol phosphate dephosphorylation
phosphorylated carbohydrate dephosphorylation
inositol phosphate catabolic process
phosphatidylinositol dephosphorylation
polyol catabolic process
phospholipid dephosphorylation
alcohol catabolic process
inositol phosphate metabolic process
organic hydroxy compound catabolic process
ruffle
Golgi cisterna membrane
axoneme
phosphatidylinositol biosynthetic process
polyol metabolic process
negative regulation of cellular protein localization
organophosphate catabolic process
phosphatidylinositol metabolic process
cellular carbohydrate metabolic process
cilium
lipid modification
glycerophospholipid biosynthetic process
glycerolipid biosynthetic process
phospholipid biosynthetic process
glycerophospholipid metabolic process
dephosphorylation
alcohol metabolic process
phospholipid metabolic process
glycerolipid metabolic process
small molecule catabolic process
organic hydroxy compound metabolic process
carbohydrate metabolic process
organophosphate biosynthetic process
regulation of cellular protein localization
lipid biosynthetic process
organophosphate metabolic process
regulation of cellular localization