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 phosphatidyl inositol 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 hydrolizing 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". J. Biol. Chem. 275 (26): 20110–6. PMID 10764818. doi:10.1074/jbc.M910119199.
- ↑ Hampshire, DJ; Ayub M; Springell K; Roberts E; Jafri H; Rashid Y; Bond J; Riley JH; Woods CG (2006). "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34". Eur J Hum Genet. 14 (5): 543–8. PMID 16493448. doi:10.1038/sj.ejhg.5201577.
- ↑ Bielas SL, Silhavy JL, Brancati F, et al. (September 2009). "Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies". Nat. Genet. 41 (9): 1032–6. PMC 2746682
. PMID 19668216. doi:10.1038/ng.423.
Further reading
- Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.". Curr. Biol. 14 (16): 1436–50. PMID 15324660. doi:10.1016/j.cub.2004.07.051.
- Kong AM, Speed CJ, O'Malley CJ, et al. (2000). "Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network.". J. Biol. Chem. 275 (31): 24052–64. PMID 10806194. doi:10.1074/jbc.M000874200.
- Jacoby M, Cox JJ, Gayral S, et al. (2009). "INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.". Nat. Genet. 41 (9): 1027–31. PMID 19668215. doi:10.1038/ng.427.
- Ono A, Ablan SD, Lockett SJ, et al. (2004). "Phosphatidylinositol (4,5) bisphosphate regulates HIV-1 Gag targeting to the plasma membrane.". Proc. Natl. Acad. Sci. U.S.A. 101 (41): 14889–94. PMC 522033 . PMID 15465916. doi:10.1073/pnas.0405596101.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.