NP_063945.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
66,193 Da
NCBI Official Full Name
72 kDa inositol polyphosphate 5-phosphatase
NCBI Official Synonym Full Names
inositol polyphosphate-5-phosphatase, 72 kDa
NCBI Official Synonym Symbols
CPD4; CORS1; JBTS1; MORMS; PPI5PIV [Similar Products]
NCBI Protein Information
72 kDa inositol polyphosphate 5-phosphatase; phosphatidylinositol 4,5-bisphosphate 5-phosphatase; phosphatidylinositol-4,5-bisphosphate 5-phosphatase; phosphatidylinositol (4,5) bisphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase type IV
UniProt Protein Name
72 kDa inositol polyphosphate 5-phosphatase
UniProt Synonym Protein Names
Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; Phosphatidylinositol polyphosphate 5-phosphatase type IV
UniProt Entry Name
INP5E_HUMAN
NCBI Summary for 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.[provided by RefSeq, Feb 2011]
UniProt Comments for INPP5E
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.
Protein type: Phosphatase (non-protein); Carbohydrate Metabolism - inositol phosphate; EC 3.1.3.36
Chromosomal Location of Human Ortholog: 9q34.3
Cellular Component: ruffle; cytoskeleton; plasma membrane; axoneme; cytosol
Molecular Function: phosphoinositide 5-phosphatase activity; inositol-polyphosphate 5-phosphatase activity
Biological Process: phospholipid metabolic process; organelle organization and biogenesis; inositol phosphate dephosphorylation; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation
Disease: Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome; Joubert Syndrome 1
Research Articles on INPP5E
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Pathways associated with anti-INPP5E antibody
Diseases associated with anti-INPP5E antibody
Organs/Tissues associated with anti-INPP5E antibody
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