72 kDa inositol polyphosphate 5-phosphatase, also known as phosphatidylinositol-4,5-bisphosphate 5-phosphatase or Pharbin, is an enzyme that in humans is encoded by the INPP5E gene.[1][2]
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Primary Cilia - the cells' ultimate antennae
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Joubert syndrome and ciliopathy relationship to ODD and optic neuropathies
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Inositol
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Hedgehog signaling pathway
Transcription
Function
INPP5E is a phosphatidylinositol (3,4,5)-trisphosphate (PtdInsP3) and phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Its intracellular localization is the primary cilium, a small organelle involved in signal transduction. INPP5E plays a role in hydrolyzing PtdInsP3 produced in response to various growth factors such as PDGF. Inactivation of the mouse INPP5E gene decreases primary cilia stability, leading to a multiorgan disorder, including absence of eyes, polydactyly, exencephaly and renal cysts.
Clinical significance
Mutations in the INPP5E are associated with MORM syndrome[3] and Joubert syndrome.[4]
References
- ^ "Entrez Gene: inositol polyphosphate-5-phosphatase".
- ^ Kisseleva MV, Wilson MP, Majerus PW (June 2000). "The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase". The Journal of Biological Chemistry. 275 (26): 20110–6. doi:10.1074/jbc.M910119199. PMID 10764818.
- ^ Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG (May 2006). "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34" (PDF). European Journal of Human Genetics. 14 (5): 543–8. doi:10.1038/sj.ejhg.5201577. PMID 16493448. S2CID 20931689.
- ^ Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG (September 2009). "Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies". Nature Genetics. 41 (9): 1032–6. doi:10.1038/ng.423. PMC 2746682. PMID 19668216.
Further reading
- Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, Metalnikov P, O'Donnell P, Taylor P, Taylor L, Zougman A, Woodgett JR, Langeberg LK, Scott JD, Pawson T (August 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
- Kong AM, Speed CJ, O'Malley CJ, Layton MJ, Meehan T, Loveland KL, Cheema S, Ooms LM, Mitchell CA (August 2000). "Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network". The Journal of Biological Chemistry. 275 (31): 24052–64. doi:10.1074/jbc.M000874200. PMID 10806194.
- Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga D, Woods CG, Schurmans S (September 2009). "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse" (PDF). Nature Genetics. 41 (9): 1027–31. doi:10.1038/ng.427. PMID 19668215. S2CID 5249668.
- Ono A, Ablan SD, Lockett SJ, Nagashima K, Freed EO (October 2004). "Phosphatidylinositol (4,5) bisphosphate regulates HIV-1 Gag targeting to the plasma membrane". Proceedings of the National Academy of Sciences of the United States of America. 101 (41): 14889–94. Bibcode:2004PNAS..10114889O. doi:10.1073/pnas.0405596101. PMC 522033. PMID 15465916.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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This page was last edited on 2 April 2024, at 21:35