PIP4K2A

Phosphatidylinositol-5-phosphate 4-kinase type-2 alpha is an enzyme that in humans is encoded by the PIP4K2A gene.[5][6][7]

PIP4K2A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPIP4K2A, PI5P4KA, PIP5K2A, PIP5KII-alpha, PIP5KIIA, PIPK, phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
External IDsOMIM: 603140 MGI: 1298206 HomoloGene: 37995 GeneCards: PIP4K2A
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10p12.2Start22,534,854 bp[1]
End22,714,578 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 2: 18.84 – 19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

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.[8][9]

References

  1. GRCh38: Ensembl release 89: ENSG00000150867 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026737 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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. S2CID 4403301.
  7. "Entrez Gene: PIP5K2A phosphatidylinositol-4-phosphate 5-kinase, type II, alpha".
  8. 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. PMC 3691938. PMID 23512250.
  9. 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. PMC 4863780. PMID 27149463.

Further reading

  • 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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