PIP4K2A: Difference between revisions

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{{Underlinked|date=April 2017}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''Phosphatidylinositol-5-phosphate 4-kinase type-2 alpha''' is an [[enzyme]] that in humans is encoded by the ''PIP4K2A'' [[gene]].<ref name="pmid7852364">{{cite journal | vauthors = Boronenkov IV, Anderson RA | title = The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases | journal = The Journal of Biological Chemistry | volume = 270 | issue = 7 | pages = 2881–4 | date = February 1995 | pmid = 7852364 | pmc =  | doi = 10.1074/jbc.270.7.2881 }}</ref><ref name="pmid9367159">{{cite journal | vauthors = Rameh LE, Tolias KF, Duckworth BC, Cantley LC | title = A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate | journal = Nature | volume = 390 | issue = 6656 | pages = 192–6 | date = November 1997 | pmid = 9367159 | pmc =  | doi = 10.1038/36621 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PIP5K2A phosphatidylinositol-4-phosphate 5-kinase, type II, alpha| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5305| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha
| HGNCid = 8997
| Symbol = PIP5K2A
| AltSymbols =; PIP5KII-alpha; PIPK
| OMIM = 603140
| ECnumber = 
| Homologene = 37995
| MGIid = 1298206
| GeneAtlas_image1 = PBB_GE_PIP5K2A_205570_at_tn.png
| GeneAtlas_image2 = PBB_GE_PIP5K2A_212829_at_tn.png
| Function = {{GNF_GO|id=GO:0016301 |text = kinase activity}} {{GNF_GO|id=GO:0016308 |text = 1-phosphatidylinositol-4-phosphate 5-kinase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}}
| Process = {{GNF_GO|id=GO:0006650 |text = glycerophospholipid metabolic process}} {{GNF_GO|id=GO:0016310 |text = phosphorylation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5305
    | Hs_Ensembl = ENSG00000150867
    | Hs_RefseqProtein = NP_005019
    | Hs_RefseqmRNA = NM_005028
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 22863784
    | Hs_GenLoc_end = 23043490
    | Hs_Uniprot = P48426
    | Mm_EntrezGene = 18718
    | Mm_Ensembl = ENSMUSG00000026737
    | Mm_RefseqmRNA = XM_985285
    | Mm_RefseqProtein = XP_990379
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 18760014
    | Mm_GenLoc_end = 18915866
    | Mm_Uniprot = Q544E3
  }}
}}
'''Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha''', also known as '''PIP5K2A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PIP5K2A phosphatidylinositol-4-phosphate 5-kinase, type II, alpha| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5305| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: PIP5K2A phosphatidylinositol-4-phosphate 5-kinase, type II, alpha| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5305| accessdate = }}</ref>
}}


==References==
==Clinical Importance==
{{reflist|2}}
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.<ref>{{cite journal | vauthors = Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, Pei D, Scheet P, Burchard EG, Eng C, Huntsman S, Torgerson DG, Dean M, Winick NJ, Martin PL, Camitta BM, Bowman WP, Willman CL, Carroll WL, Mullighan CG, Bhojwani D, Hunger SP, Pui CH, Evans WE, Relling MV, Loh ML, Yang JJ | display-authors = 6 | title = Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations | journal = Journal of the National Cancer Institute | volume = 105 | issue = 10 | pages = 733–42 | date = May 2013 | pmid = 23512250 | doi = 10.1093/jnci/djt042 }}</ref><ref>{{cite journal | vauthors = Liao F, Yin D, Zhang Y, Hou Q, Zheng Z, Yang L, Shu Y, Xu H, Li Y | title = Association Between PIP4K2A Polymorphisms and Acute Lymphoblastic Leukemia Susceptibility | journal = Medicine | volume = 95 | issue = 18 | pages = e3542 | date = May 2016 | pmid = 27149463 | doi = 10.1097/MD.0000000000003542 }}</ref>
==Further reading==
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Loijens JC, Boronenkov IV, Parker GJ, Anderson RA | title = The phosphatidylinositol 4-phosphate 5-kinase family | journal = Advances in Enzyme Regulation | volume = 36 | issue =  | pages = 115–40 | year = 1996 | pmid = 8869744 | doi = 10.1016/0065-2571(95)00005-4 }}
| citations =
* {{cite journal | vauthors = Niiro H, Clark EA | title = Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1 | journal = Immunity | volume = 19 | issue = 5 | pages = 637–40 | date = November 2003 | pmid = 14614850 | doi = 10.1016/S1074-7613(03)00303-0 }}
*{{cite journal | author=Loijens JC, Boronenkov IV, Parker GJ, Anderson RA |title=The phosphatidylinositol 4-phosphate 5-kinase family. |journal=Adv. Enzyme Regul. |volume=36 |issue=  |pages= 115-40 |year= 1996 |pmid= 8869744 |doi= }}
* {{cite journal | vauthors = Carpenter CL | title = Btk-dependent regulation of phosphoinositide synthesis | journal = Biochemical Society Transactions | volume = 32 | issue = Pt 2 | pages = 326–9 | date = April 2004 | pmid = 15046600 | doi = 10.1042/BST0320326 }}
*{{cite journal | author=Niiro H, Clark EA |title=Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1. |journal=Immunity |volume=19 |issue= 5 |pages= 637-40 |year= 2003 |pmid= 14614850 |doi= }}
* {{cite journal | vauthors = Tolias KF, Cantley LC, Carpenter CL | title = Rho family GTPases bind to phosphoinositide kinases | journal = The Journal of Biological Chemistry | volume = 270 | issue = 30 | pages = 17656–9 | date = July 1995 | pmid = 7629060 | doi = 10.1074/jbc.270.30.17656 }}
*{{cite journal | author=Carpenter CL |title=Btk-dependent regulation of phosphoinositide synthesis. |journal=Biochem. Soc. Trans. |volume=32 |issue= Pt 2 |pages= 326-9 |year= 2004 |pmid= 15046600 |doi= 10.1042/ }}
* {{cite journal | vauthors = Divecha N, Truong O, Hsuan JJ, Hinchliffe KA, Irvine RF | title = The cloning and sequence of the C isoform of PtdIns4P 5-kinase | journal = The Biochemical Journal | volume = 309 ( Pt 3) | issue = 3 | pages = 715–9 | date = August 1995 | pmid = 7639683 | pmc = 1135690 | doi =  }}
*{{cite journal | author=Tolias KF, Cantley LC, Carpenter CL |title=Rho family GTPases bind to phosphoinositide kinases. |journal=J. Biol. Chem. |volume=270 |issue= 30 |pages= 17656-9 |year= 1995 |pmid= 7629060 |doi= }}
* {{cite journal | vauthors = Rozenvayn N, Flaumenhaft R | title = Protein kinase C mediates translocation of type II phosphatidylinositol 5-phosphate 4-kinase required for platelet alpha-granule secretion | journal = The Journal of Biological Chemistry | volume = 278 | issue = 10 | pages = 8126–34 | date = March 2003 | pmid = 12509423 | doi = 10.1074/jbc.M206493200 }}
*{{cite journal | author=Divecha N, Truong O, Hsuan JJ, ''et al.'' |title=The cloning and sequence of the C isoform of PtdIns4P 5-kinase. |journal=Biochem. J. |volume=309 ( Pt 3) |issue= |pages= 715-9 |year= 1995 |pmid= 7639683 |doi=  }}
* {{cite journal | vauthors = Saito K, Tolias KF, Saci A, Koon HB, Humphries LA, Scharenberg A, Rawlings DJ, Kinet JP, Carpenter CL | title = BTK regulates PtdIns-4,5-P2 synthesis: importance for calcium signaling and PI3K activity | journal = Immunity | volume = 19 | issue = 5 | pages = 669–78 | date = November 2003 | pmid = 14614854 | doi = 10.1016/S1074-7613(03)00297-8 }}
*{{cite journal  | author=Boronenkov IV, Anderson RA |title=The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases. |journal=J. Biol. Chem. |volume=270 |issue= 7 |pages= 2881-4 |year= 1995 |pmid= 7852364 |doi=  }}
* {{cite journal | vauthors = 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 | title = Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia | journal = Molecular Psychiatry | volume = 11 | issue = 9 | pages = 837–46 | date = September 2006 | pmid = 16801950 | doi = 10.1038/sj.mp.4001864 }}
*{{cite journal | author=Rameh LE, Tolias KF, Duckworth BC, Cantley LC |title=A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate. |journal=Nature |volume=390 |issue= 6656 |pages= 192-6 |year= 1997 |pmid= 9367159 |doi= 10.1038/36621 }}
* {{cite journal | vauthors = Bakker SC, Hoogendoorn ML, Hendriks J, Verzijlbergen K, Caron S, Verduijn W, Selten JP, Pearson PL, Kahn RS, Sinke RJ | title = The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia | journal = Genes, Brain, and Behavior | volume = 6 | issue = 2 | pages = 113–9 | date = March 2007 | pmid = 17410640 | doi = 10.1111/j.1601-183X.2006.00234.x }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = He Z, Li Z, Shi Y, Tang W, Huang K, Ma G, Zhou J, Meng J, Li H, Feng G, He L | title = The PIP5K2A gene and schizophrenia in the Chinese population--a case-control study | journal = Schizophrenia Research | volume = 94 | issue = 1-3 | pages = 359–65 | date = August 2007 | pmid = 17555944 | doi = 10.1016/j.schres.2007.04.013 }}
*{{cite journal  | author=Rozenvayn N, Flaumenhaft R |title=Protein kinase C mediates translocation of type II phosphatidylinositol 5-phosphate 4-kinase required for platelet alpha-granule secretion. |journal=J. Biol. Chem. |volume=278 |issue= 10 |pages= 8126-34 |year= 2003 |pmid= 12509423 |doi= 10.1074/jbc.M206493200 }}
*{{cite journal | author=Saito K, Tolias KF, Saci A, ''et al.'' |title=BTK regulates PtdIns-4,5-P2 synthesis: importance for calcium signaling and PI3K activity. |journal=Immunity |volume=19 |issue= 5 |pages= 669-78 |year= 2003 |pmid= 14614854 |doi=  }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Deloukas P, Earthrowl ME, Grafham DV, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 10. |journal=Nature |volume=429 |issue= 6990 |pages= 375-81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Schwab SG, Knapp M, Sklar P, ''et al.'' |title=Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia. |journal=Mol. Psychiatry |volume=11 |issue= 9 |pages= 837-46 |year= 2006 |pmid= 16801950 |doi= 10.1038/sj.mp.4001864 }}
*{{cite journal | author=Bakker SC, Hoogendoorn ML, Hendriks J, ''et al.'' |title=The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia. |journal=Genes Brain Behav. |volume=6 |issue= 2 |pages= 113-9 |year= 2007 |pmid= 17410640 |doi= }}
*{{cite journal | author=He Z, Li Z, Shi Y, ''et al.'' |title=The PIP5K2A gene and schizophrenia in the Chinese population--a case-control study. |journal=[[Schizophrenia Research]] |volume=94 |issue= 1-3 |pages= 359-65 |year= 2007 |pmid= 17555944 |doi= 10.1016/j.schres.2007.04.013 }}
}}
{{refend}}
{{refend}}


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Revision as of 18:10, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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 Importance

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

  1. ↑ Boronenkov IV, Anderson RA (February 1995). "The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases". The Journal of Biological Chemistry. 270 (7): 2881–4. doi:10.1074/jbc.270.7.2881. PMID 7852364.
  2. ↑ Rameh LE, Tolias KF, Duckworth BC, Cantley LC (November 1997). "A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate". Nature. 390 (6656): 192–6. doi:10.1038/36621. PMID 9367159.
  3. ↑ 3.0 3.1 "Entrez Gene: PIP5K2A phosphatidylinositol-4-phosphate 5-kinase, type II, alpha".
  4. ↑ Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, et al. (May 2013). "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. doi:10.1093/jnci/djt042. PMID 23512250.
  5. ↑ Liao F, Yin D, Zhang Y, Hou Q, Zheng Z, Yang L, Shu Y, Xu H, Li Y (May 2016). "Association Between PIP4K2A Polymorphisms and Acute Lymphoblastic Leukemia Susceptibility". Medicine. 95 (18): e3542. doi:10.1097/MD.0000000000003542. PMID 27149463.

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 ( Pt 3) (3): 715–9. 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.
  • 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.


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