PIP4K2A

PIP4K2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YBX
Identifiers
Aliases	PIP4K2A, PI5P4KA, PIP5K2A, PIP5KII-alpha, PIP5KIIA, PIPK, phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
External IDs	OMIM: 603140; MGI: 1298206; HomoloGene: 37995; GeneCards: PIP4K2A; OMA:PIP4K2A - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10p12.2 Start 22,534,854 bp End 22,714,578 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 A3 Start 18,847,066 bp End 19,002,937 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior olivary nucleus internal globus pallidus inferior ganglion of vagus nerve external globus pallidus corpus callosum pars reticulata C1 segment dorsal motor nucleus of vagus nerve subthalamic nucleus Region I of hippocampus proper Top expressed in deep cerebellar nuclei anterior horn of spinal cord blood facial motor nucleus pontine nuclei thymus substantia nigra globus pallidus spleen medial vestibular nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding 1-phosphatidylinositol-4-phosphate 5-kinase activity kinase activity phosphatidylinositol phosphate kinase activity ATP binding 1-phosphatidylinositol-3-phosphate 4-kinase activity 1-phosphatidylinositol-5-phosphate 4-kinase activity protein binding Cellular component cytoplasm cytosol membrane plasma membrane autophagosome nucleus nucleoplasm Biological process megakaryocyte development phosphatidylinositol metabolic process positive regulation of autophagosome assembly phosphorylation regulation of autophagy phosphatidylinositol biosynthetic process phosphatidylinositol phosphate biosynthetic process regulation of phosphatidylinositol 3-kinase signaling phospholipid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5305 18718 Ensembl ENSG00000150867 ENSMUSG00000026737 UniProt P48426 O70172 RefSeq (mRNA) NM_005028 NM_001330062 NM_008845 NM_001355146 NM_001355147 NM_001355148 NM_001355149 RefSeq (protein) NP_001316991 NP_005019 NP_032871 NP_001342075 NP_001342076 NP_001342077 NP_001342078 Location (UCSC) Chr 10: 22.53 – 22.71 Mb Chr 2: 18.85 – 19 Mb PubMed search
Wikidata
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Phosphatidylinositol-5-phosphate 4-kinase type-2 alpha is an enzyme that in humans is encoded by the PIP4K2A gene.

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.

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.

Further reading

• Loijens JC, Boronenkov IV, Parker GJ, Anderson RA (1996). "The phosphatidylinositol 4-phosphate 5-kinase family". Advances in Enzyme Regulation. 36: 115–40. doi:10.1016/0065-2571(95)00005-4. PMID 8869744.
• Niiro H, Clark EA (November 2003). "Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1". Immunity. 19 (5): 637–40. doi:10.1016/S1074-7613(03)00303-0. PMID 14614850.
• Carpenter CL (April 2004). "Btk-dependent regulation of phosphoinositide synthesis". Biochemical Society Transactions. 32 (Pt 2): 326–9. doi:10.1042/BST0320326. PMID 15046600.
• Tolias KF, Cantley LC, Carpenter CL (July 1995). "Rho family GTPases bind to phosphoinositide kinases". The Journal of Biological Chemistry. 270 (30): 17656–9. doi:10.1074/jbc.270.30.17656. PMID 7629060.
• Divecha N, Truong O, Hsuan JJ, Hinchliffe KA, Irvine RF (August 1995). "The cloning and sequence of the C isoform of PtdIns4P 5-kinase". The Biochemical Journal. 309 (3): 715–9. doi:10.1042/bj3090715. PMC 1135690. PMID 7639683.
• Rozenvayn N, Flaumenhaft R (March 2003). "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. doi:10.1074/jbc.M206493200. PMID 12509423.
• Saito K, Tolias KF, Saci A, Koon HB, Humphries LA, Scharenberg A, Rawlings DJ, Kinet JP, Carpenter CL (November 2003). "BTK regulates PtdIns-4,5-P2 synthesis: importance for calcium signaling and PI3K activity". Immunity. 19 (5): 669–78. doi:10.1016/S1074-7613(03)00297-8. PMID 14614854.
• Schwab SG, Knapp M, Sklar P, Eckstein GN, Sewekow C, Borrmann-Hassenbach M, Albus M, Becker T, Hallmayer JF, Lerer B, Maier W, Wildenauer DB (September 2006). "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. doi:10.1038/sj.mp.4001864. PMID 16801950.
• Bakker SC, Hoogendoorn ML, Hendriks J, Verzijlbergen K, Caron S, Verduijn W, Selten JP, Pearson PL, Kahn RS, Sinke RJ (March 2007). "The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia". Genes, Brain, and Behavior. 6 (2): 113–9. doi:10.1111/j.1601-183X.2006.00234.x. PMID 17410640. S2CID 32120485.
• He Z, Li Z, Shi Y, Tang W, Huang K, Ma G, Zhou J, Meng J, Li H, Feng G, He L (August 2007). "The PIP5K2A gene and schizophrenia in the Chinese population--a case-control study". Schizophrenia Research. 94 (1–3): 359–65. doi:10.1016/j.schres.2007.04.013. PMID 17555944. S2CID 34716299.

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.