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Protein Page:
INPP5E (human)

Overview
INPP5E Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates. Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1). A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Defects in INPP5E are the cause of mental retardation- truncal obesity-retinal dystrophy-micropenis (MORMS). An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type IV family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - inositol phosphate; EC 3.1.3.36; Phosphatase (non-protein)
Chromosomal Location of Human Ortholog: 9q34.3
Cellular Component: axoneme; cytosol
Molecular Function: inositol-polyphosphate 5-phosphatase activity; phosphoinositide 5-phosphatase activity
Biological Process: phosphatidylinositol biosynthetic process
Disease: Joubert Syndrome 1; Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reference #:  Q9NRR6 (UniProtKB)
Alt. Names/Synonyms: 72 kDa inositol polyphosphate 5-phosphatase; CORS1; inositol polyphosphate-5-phosphatase, 72 kDa; INP5E; INPP5E; JBTS1; MGC117201; MORMS; phosphatidylinositol (4,5) bisphosphate 5-phosphatase; Phosphatidylinositol polyphosphate 5-phosphatase type IV; Phosphatidylinositol-4,5-bisphosphate 5-phosphatase; PPI5PIV
Gene Symbols: INPP5E
Molecular weight: 70,205 Da
Basal Isoelectric point: 9.16  Predict pI for various phosphorylation states
Select Structure to View Below

INPP5E

Protein Structure Not Found.
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