Biology:INPP5E
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]
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". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56623.
- ↑ "The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase". The Journal of Biological Chemistry 275 (26): 20110–6. June 2000. doi:10.1074/jbc.M910119199. PMID 10764818.
- ↑ "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34". European Journal of Human Genetics 14 (5): 543–8. May 2006. doi:10.1038/sj.ejhg.5201577. PMID 16493448. http://dro.dur.ac.uk/8391/1/8391.pdf.
- ↑ "Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies". Nature Genetics 41 (9): 1032–6. September 2009. doi:10.1038/ng.423. PMID 19668216.
Further reading
- "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. August 2004. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
- "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. August 2000. doi:10.1074/jbc.M000874200. PMID 10806194.
- "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse". Nature Genetics 41 (9): 1027–31. September 2009. doi:10.1038/ng.427. PMID 19668215. https://dipot.ulb.ac.be/dspace/bitstream/2013/52059/1/NatureGenetics2009Pharbin.pdf.
- "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. October 2004. doi:10.1073/pnas.0405596101. PMID 15465916. Bibcode: 2004PNAS..10114889O.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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