Biology:PIP4K2A
 Generic protein structure example |
Phosphatidylinositol-5-phosphate 4-kinase type-2 alpha is an enzyme that in humans is encoded by the PIP4K2A gene.[1][2][3]
Function
Phosphatidylinositol-4,5-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-4-phosphate on the fifth hydroxyl of the myo-inositol ring to form phosphatidylinositol-4,5-bisphosphate.
The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-4-phosphate 5-kinase family.[3]
Clinical significance
Through genome wide association studies (GWAS), some of the single nucleotide polymorphisms (SNPs) located in this gene have been noticed to be significantly associated with susceptibility of childhood acute lymphoblastic leukaemia in ethnically diverse populations.[4][5]
References
- ↑ "The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases". The Journal of Biological Chemistry 270 (7): 2881–4. February 1995. doi:10.1074/jbc.270.7.2881. PMID 7852364.
- ↑ "A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate". Nature 390 (6656): 192–6. November 1997. doi:10.1038/36621. PMID 9367159. Bibcode: 1997Natur.390..192R.
- ↑ 3.0 3.1 "Entrez Gene: PIP5K2A phosphatidylinositol-4-phosphate 5-kinase, type II, alpha". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5305.
- ↑ "Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations". Journal of the National Cancer Institute 105 (10): 733–42. May 2013. doi:10.1093/jnci/djt042. PMID 23512250.
- ↑ "Association Between PIP4K2A Polymorphisms and Acute Lymphoblastic Leukemia Susceptibility". Medicine 95 (18): e3542. May 2016. doi:10.1097/MD.0000000000003542. PMID 27149463.
Further reading
- "The phosphatidylinositol 4-phosphate 5-kinase family". Advances in Enzyme Regulation 36: 115–40. 1996. doi:10.1016/0065-2571(95)00005-4. PMID 8869744.
- "Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1". Immunity 19 (5): 637–40. November 2003. doi:10.1016/S1074-7613(03)00303-0. PMID 14614850.
- "Btk-dependent regulation of phosphoinositide synthesis". Biochemical Society Transactions 32 (Pt 2): 326–9. April 2004. doi:10.1042/BST0320326. PMID 15046600.
- "Rho family GTPases bind to phosphoinositide kinases". The Journal of Biological Chemistry 270 (30): 17656–9. July 1995. doi:10.1074/jbc.270.30.17656. PMID 7629060.
- "The cloning and sequence of the C isoform of PtdIns4P 5-kinase". The Biochemical Journal 309 (3): 715–9. August 1995. doi:10.1042/bj3090715. PMID 7639683.
- "Protein kinase C mediates translocation of type II phosphatidylinositol 5-phosphate 4-kinase required for platelet alpha-granule secretion". The Journal of Biological Chemistry 278 (10): 8126–34. March 2003. doi:10.1074/jbc.M206493200. PMID 12509423.
- "BTK regulates PtdIns-4,5-P2 synthesis: importance for calcium signaling and PI3K activity". Immunity 19 (5): 669–78. November 2003. doi:10.1016/S1074-7613(03)00297-8. PMID 14614854.
- "Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia". Molecular Psychiatry 11 (9): 837–46. September 2006. doi:10.1038/sj.mp.4001864. PMID 16801950.
- "The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia". Genes, Brain and Behavior 6 (2): 113–9. March 2007. doi:10.1111/j.1601-183X.2006.00234.x. PMID 17410640.
- "The PIP5K2A gene and schizophrenia in the Chinese population--a case-control study". Schizophrenia Research 94 (1–3): 359–65. August 2007. doi:10.1016/j.schres.2007.04.013. PMID 17555944.
External links
- Overview of all the structural information available in the PDB for UniProt: P48426 (Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha) at the PDBe-KB.
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