Biology:PIP5K1B
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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]
References
- ↑ "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. doi:10.1006/geno.1997.4726. PMID 9177790.
- ↑ "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase". Nat Genet 14 (2): 157–62. Nov 1996. doi:10.1038/ng1096-157. PMID 8841185.
- ↑ "Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=8395.
- ↑ "Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies". Hum. Mol. Genet. 22 (14): 2894–904. 2013. doi:10.1093/hmg/ddt144. PMID 23552101.
Further reading
- "Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1.". Immunity 19 (5): 637–40. 2003. doi:10.1016/S1074-7613(03)00303-0. PMID 14614850.
- Carpenter CL (2004). "Btk-dependent regulation of phosphoinositide synthesis.". Biochem. Soc. Trans. 32 (Pt 2): 326–9. doi:10.1042/BST0320326. PMID 15046600.
- "Friedreich's ataxia: a defect in signal transduction?". Hum. Mol. Genet. 4 (8): 1411–9. 1995. doi:10.1093/hmg/4.8.1411. PMID 7581382.
- "Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family.". J. Biol. Chem. 271 (51): 32937–43. 1997. doi:10.1074/jbc.271.51.32937. PMID 8955136.
- "Identification and characterization of a phosphoinositide phosphate kinase homolog.". J. Biol. Chem. 279 (12): 11672–9. 2004. doi:10.1074/jbc.M309721200. PMID 14701839.
- "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369–74. 2004. doi:10.1038/nature02465. PMID 15164053. Bibcode: 2004Natur.429..369H.
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