|Other Names||Polyphosphoinositide phosphatase, 313-, Phosphatidylinositol 3, 5-bisphosphate 5-phosphatase, SAC domain-containing protein 3, FIG4, KIAA0274, SAC3|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.|
|Cellular Location||Endosome membrane. Note=Localization requires VAC14 and PIKFYVE|
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The protein encoded by this gene belongs to the SACdomain-containing protein gene family. The SAC domain,approximately 400 amino acids in length and consisting of sevenconserved motifs, has been shown to possess phosphoinositidephosphatase activity. The yeast homolog, Sac1p, is involved in theregulation of various phosphoinositides, and affects diversecellular functions such as actin cytoskeleton organization, Golgifunction, and maintenance of vacuole morphology. Membrane-boundphosphoinositides function as signaling molecules and play a keyrole in vesicle trafficking in eukaryotic cells. Mutations in thisgene have been associated with Charcot-Marie-Tooth disease, type4J.
Ikonomov, O.C., et al. J. Biol. Chem. 285(35):26760-26764(2010)Tsai, C.P., et al. Neurobiol. Aging (2010) In press :Ikonomov, O.C., et al. J. Biol. Chem. 284(51):35794-35806(2009)Soranzo, N., et al. Nat. Genet. 41(11):1182-1190(2009)Trynka, G., et al. Gut 58(8):1078-1083(2009)
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