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Search Thermo Fisher Scientific
Immunogen sequence: GKDTYDSTSK QRTPSYTDRV LYRSRHKGDI CPVSYSSCPG IKTSDHRPVY GLFRVKVRPG RDNIPLAAGK FDRELYLLGI KRRISKEIQR QQALQSQNSS TICSVS
Highest antigen sequence identity to the following orthologs: Mouse - 90%, Rat - 91%.
INPP5E (inositol polyphosphate 5-phosphatase), also known as phosphatidylinositol polyphosphate 5-phosphatase type IV, is a 644 amino acid peripheral membrane protein associated with Golgi stacks. Belonging to the inositol-1, 4, 5-trisphosphate 5-phosphatase type IV family, INPP5E converts phosphatidylinositol-3, 4, 5-triphosphate (PtdIns 3, 4, 5-P3) to PtdIns-P2. While inactive towards water soluble inositol phosphates, the activity of INPP5E is specific for lipid substrates. INPP5E becomes phosphorylated upon DNA damage and is expressed in brain, heart, pancreas, testis and spleen. 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. In addition, mutations in the INPP5E gene may lead to 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 72 kDa inositol polyphosphate 5-phosphatase; Inositol polyphosphate-5-phosphatase E; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase; Phosphatidylinositol polyphosphate 5-phosphatase type IV; Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; phosphatidylinositol-4,5-bisphosphate 5-phosphatase
Gene Aliases: CORS1; CPD4; INPP5E; JBTS1; MORMS; PPI5PIV
UniProt ID: (Human) Q9NRR6
Entrez Gene ID: (Human) 56623
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