PI4KA (original) (raw)

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

PI4KA
Identifiers
Aliases PI4KA, PI4K-ALPHA, PIK4CA, pi4K230, PMGYCHA, phosphatidylinositol 4-kinase alpha, SPG84, GIDID2
External IDs OMIM: 600286; MGI: 2448506; HomoloGene: 11171; GeneCards: PI4KA; OMA:PI4KA - orthologs
Gene location (Human)Chromosome 22 (human)Chr.Chromosome 22 (human)[1]Chromosome 22 (human)Genomic location for PI4KAGenomic location for PI4KABand22q11.21Start20,707,691 bp[1]End20,859,417 bp[1]
Gene location (Mouse)Chromosome 16 (mouse)Chr.Chromosome 16 (mouse)[2]Chromosome 16 (mouse)Genomic location for PI4KAGenomic location for PI4KABand16|16 A3Start17,098,215 bp[2]End17,224,178 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed insuperior frontal gyrusright frontal lobeBrodmann area 9right hemisphere of cerebellumprimary visual cortexprefrontal cortexanterior cingulate cortexnucleus accumbenspituitary glandputamenTop expressed insubstantia nigrasuperior frontal gyrusprimary motor cortexprefrontal cortexsubiculummedial dorsal nucleusmedial geniculate nucleusmedial vestibular nucleusdorsal striatumneural layer of retinaMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function transferase activity nucleotide binding protein binding ATP binding 1-phosphatidylinositol 4-kinase activity kinase activity cadherin binding Cellular component cytoplasm Golgi-associated vesicle membrane cytosol extracellular exosome membrane focal adhesion plasma membrane Biological process phosphatidylinositol biosynthetic process phosphatidylinositol phosphate biosynthetic process signal transduction viral RNA genome replication phosphorylation actin cytoskeleton organization phosphatidylinositol-mediated signaling Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez5297224020EnsemblENSG00000241973ENSMUSG00000041720UniProtP42356E9Q3L2RefSeq (mRNA)NM_002650NM_058004NM_001362862NM_001362863NM_001001983NM_001373955RefSeq (protein)NP_477352NP_001349791NP_001349792NP_001001983Location (UCSC)Chr 22: 20.71 – 20.86 MbChr 16: 17.1 – 17.22 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphatidylinositol 4-kinase alpha is an enzyme that in humans is encoded by the PI4KA gene.[5][6][7]

This gene encodes a 1-phosphatidylinositol 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. Two transcript variants encoding different isoforms have been described for this gene.[7]

Clinical significance

[edit]

The alpha isoform of PI4KIII plays a role in replication of hepatitis C virus (HCV).[8] Furthermore, the PI4KA lipid kinase affects HCV replication by altering phosphorylation of the HCV NS5A protein.[9]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000241973Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041720Ensembl, 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. ^ Wong K, Cantley LC (Dec 1994). "Cloning and characterization of a human phosphatidylinositol 4-kinase". J Biol Chem. 269 (46): 28878–84. doi:10.1016/S0021-9258(19)61989-7. PMID 7961848.
  6. ^ Nakagawa T, Goto K, Kondo H (Aug 1996). "Cloning, expression, and localization of 230-kDa phosphatidylinositol 4-kinase". J Biol Chem. 271 (20): 12088–94. doi:10.1074/jbc.271.20.12088. PMID 8662589.
  7. ^ a b "Entrez Gene: PIK4CA phosphatidylinositol 4-kinase, catalytic, alpha polypeptide".
  8. ^ Reiss S, Rebhan I, Backes P, Romero-Brey I, Erfle H, Matula P, Kaderali L, Poenisch M, Blankenburg H, Hiet MS, Longerich T, Diehl S, Ramirez F, Balla T, Rohr K, Kaul A, Bühler S, Pepperkok R, Lengauer T, Albrecht M, Eils R, Schirmacher P, Lohmann V, Bartenschlager R (January 2011). "Recruitment and activation of a lipid kinase by hepatitis C virus NS5A is essential for integrity of the membranous replication compartment". Cell Host Microbe. 9 (1): 32–45. doi:10.1016/j.chom.2010.12.002. PMC 3433060. PMID 21238945.
  9. ^ Reiss S, Harak C, Romero-Brey I, Radujkovic D, Klein R, Ruggieri A, Rebhan I, Bartenschlager R, Lohmann V (May 2013). "The lipid kinase phosphatidylinositol-4 kinase III alpha regulates the phosphorylation status of hepatitis C virus NS5A". PLOS Pathog. 9 (5): e1003359. doi:10.1371/journal.ppat.1003359. PMC 3649985. PMID 23675303.