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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

PIP5K1C  -  phosphatidylinositol-4-phosphate 5-kinase,...

Homo sapiens

Synonyms: KIAA0589, LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5KIgamma, ...
 
 
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High impact information on PIP5K1C

  • A similar increase of PIP5KIalpha and PIP5KIbeta occurred when PIP5KIgamma was inhibited [1].
  • Type I PIP5Kgamma has two alternative splicing forms, migrating at 87 and 90 kDa on SDS-polyacrylamide gel electrophoresis [2].
  • Particularly, the dibasic Arg-Lys sequence located at the carboxy-terminal end of KHD was shown to be crucial for the plasma membrane targeting of PIP5Kgamma, since the deletion or charge-reversal mutation of this dibasic sequence resulted in the mislocalization of the protein to the cytoplasm [3].
 

Associations of PIP5K1C with chemical compounds

  • PIP5K1C encodes phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIPKI gamma ), an enzyme that phophorylates phosphatidylinositol 4-phosphate to generate phosphatidylinositol-4,5-bisphosphate (PIP(2)) [4].
 

Biological context of PIP5K1C

References

  1. Phosphatidylinositol phosphate 5-kinase Ibeta recruits AP-2 to the plasma membrane and regulates rates of constitutive endocytosis. Padrón, D., Wang, Y.J., Yamamoto, M., Yin, H., Roth, M.G. J. Cell Biol. (2003) [Pubmed]
  2. Type I phosphatidylinositol-4-phosphate 5-kinases. Cloning of the third isoform and deletion/substitution analysis of members of this novel lipid kinase family. Ishihara, H., Shibasaki, Y., Kizuki, N., Wada, T., Yazaki, Y., Asano, T., Oka, Y. J. Biol. Chem. (1998) [Pubmed]
  3. Dibasic amino acid residues at the carboxy-terminal end of kinase homology domain participate in the plasma membrane localization and function of phosphatidylinositol 5-kinase gamma. Arioka, M., Nakashima, S., Shibasaki, Y., Kitamoto, K. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  4. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Narkis, G., Ofir, R., Landau, D., Manor, E., Volokita, M., Hershkowitz, R., Elbedour, K., Birk, O.S. Am. J. Hum. Genet. (2007) [Pubmed]
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