PIP5K1B explained

Phosphatidylinositol-4-phosphate 5-kinase type-1 beta is an enzyme that in humans is encoded by the PIP5K1B gene.^{[1] [2] [3]}

Abnormal silencing of the PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia.^[4]

Further reading

• Niiro H, Clark EA . Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1. . Immunity . 19 . 5 . 637–40 . 2003 . 14614850 . 10.1016/S1074-7613(03)00303-0 . free .
• Carpenter CL . Btk-dependent regulation of phosphoinositide synthesis. . Biochem. Soc. Trans. . 32 . Pt 2 . 326–9 . 2004 . 15046600 . 10.1042/BST0320326 .
• Carvajal JJ, Pook MA, Doudney K, etal . Friedreich's ataxia: a defect in signal transduction? . Hum. Mol. Genet. . 4 . 8 . 1411–9 . 1995 . 7581382 . 10.1093/hmg/4.8.1411 .
• Loijens JC, Anderson RA . Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family. . J. Biol. Chem. . 271 . 51 . 32937–43 . 1997 . 8955136 . 10.1074/jbc.271.51.32937 . free .
• Chang JD, Field SJ, Rameh LE, etal . Identification and characterization of a phosphoinositide phosphate kinase homolog. . J. Biol. Chem. . 279 . 12 . 11672–9 . 2004 . 14701839 . 10.1074/jbc.M309721200 . free .
• Humphray SJ, Oliver K, Hunt AR, etal . DNA sequence and analysis of human chromosome 9. . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . 2004Natur.429..369H .

Notes and References

1. Pook MA, Carvajal JJ, Doudney K, Hillermann R, Chamberlain S . Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity . Genomics . 42 . 1 . 170–2 . Jul 1997 . 9177790 . 10.1006/geno.1997.4726 .
2. Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S . The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase . Nat Genet . 14 . 2 . 157–62 . Nov 1996 . 8841185 . 10.1038/ng1096-157 . 6324358 .
3. Web site: Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta.
4. Bayot A, Reichman S, Lebon S, Csaba Z, Aubry L, Sterkers G, Husson I, Rak M, Rustin P . Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies . Hum. Mol. Genet. . 22 . 14 . 2894–904 . 2013 . 23552101 . 10.1093/hmg/ddt144 . free .