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    Pi4ka phosphatidylinositol 4-kinase alpha [ Mus musculus (house mouse) ]

    Gene ID: 224020, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Pi4kaprovided by MGI
    Official Full Name
    phosphatidylinositol 4-kinase alphaprovided by MGI
    Primary source
    MGI:MGI:2448506
    See related
    Ensembl:ENSMUSG00000041720 AllianceGenome:MGI:2448506
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pik4ca; PI4K-alpha
    Summary
    Enables 1-phosphatidylinositol 4-kinase activity. Involved in phosphatidylinositol phosphate biosynthetic process. Predicted to be located in Golgi-associated vesicle membrane. Predicted to be active in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human PI4KA (phosphatidylinositol 4-kinase alpha). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 25.4), frontal lobe adult (RPKM 25.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pi4ka in Genome Data Viewer
    Location:
    16 A3; 16 10.71 cM
    Exon count:
    57
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (17098215..17224178, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (17280351..17406314, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7430 Neighboring gene hypermethylated in cancer 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:17276268-17276485 Neighboring gene transmembrane protein 191 Neighboring gene serine (or cysteine) peptidase inhibitor, clade D, member 1 Neighboring gene STARR-seq mESC enhancer starr_40252 Neighboring gene predicted gene, 24927 Neighboring gene poly(A) binding protein, cytoplasmic 1 pseudogene Neighboring gene synaptosomal-associated protein 29 Neighboring gene STARR-positive B cell enhancer ABC_E4158 Neighboring gene STARR-seq mESC enhancer starr_40255 Neighboring gene v-crk avian sarcoma virus CT10 oncogene homolog-like Neighboring gene apoptosis-inducing factor, mitochondrion-associated 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The machinery at endoplasmic reticulum-plasma membrane contact sites contributes to spatial regulation of multiple Legionella effector proteins. Hubber A, et al. PLoS Pathog, 2014 Jul. PMID 24992562, Free PMC Article
    2. Schwann-Cell-Specific Deletion of Phosphatidylinositol 4-Kinase Alpha Causes Aberrant Myelination. Alvarez-Prats A, et al. Cell Rep, 2018 Jun 5. PMID 29874576, Free PMC Article
    3. Pharmacological and genetic targeting of the PI4KA enzyme reveals its important role in maintaining plasma membrane phosphatidylinositol 4-phosphate and phosphatidylinositol 4,5-bisphosphate levels. Bojjireddy N, et al. J Biol Chem, 2014 Feb 28. PMID 24415756, Free PMC Article
    4. Evaluation of phosphatidylinositol-4-kinase IIIα as a hepatitis C virus drug target. Vaillancourt FH, et al. J Virol, 2012 Nov. PMID 22896614, Free PMC Article
    5. Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons. Simons JP, et al. Proc Natl Acad Sci U S A, 2009 Jul 14. PMID 19581584, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Actin dynamics regulation by TTC7A/PI4KIIIalpha limits DNA damage and cell death under confinement.
      Title: Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
    2. These studies define a role for PI4KA in myelin formation primarily affecting metabolism of key phospholipids and the actin cytoskeleton.
      Title: Schwann-Cell-Specific Deletion of Phosphatidylinositol 4-Kinase Alpha Causes Aberrant Myelination.
    3. Mutation of Pi4ka found to promote myeloid and erythroid dysfunction. Subsequent validation experiments showed that targeted inactivation of the Pi4ka catalytic domain or reduction in mRNA expression inhibited myeloid and erythroid cell differentiation in vitro and promoted anemia in vivo
      Title: A Forward Genetic Screen Targeting the Endothelium Reveals a Regulatory Role for the Lipid Kinase Pi4ka in Myelo- and Erythropoiesis.
    4. PI4KA is essential for the maintenance of plasma membrane phosphatidylinositol 4,5-bisphosphate pools but only during strong stimulation of receptors coupled to phospholipase C activation.
      Title: Pharmacological and genetic targeting of the PI4KA enzyme reveals its important role in maintaining plasma membrane phosphatidylinositol 4-phosphate and phosphatidylinositol 4,5-bisphosphate levels.
    5. It was shown that PI4KIIIalpha was targeted to the plasma membrane as part of an evolutionarily conserved complex containing Efr3/rolling blackout, which was found to be a palmitoylated peripheral membrane protein.
      Title: PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity.
    6. Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons.
      Title: Loss of phosphatidylinositol 4-kinase 2alpha activity causes late onset degeneration of spinal cord axons.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (2) 
    • Targeted (8)  1 citation
    • Chemically induced (ENU) (2) 
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol 4-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 1-phosphatidylinositol 4-kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables 1-phosphatidylinositol 4-kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modulation by host of viral process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol phosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylinositol-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in reorganization of cellular membranes to establish viral sites of replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi-associated vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol 4-kinase alpha
    Names
    PI4-kinase alpha
    phosphatidylinositol 4-kinase, catalytic, alpha polypeptide
    ptdIns-4-kinase alpha
    NP_001001983.2
    NP_001360884.1
    XP_006522099.1
    XP_006522100.1
    XP_030104929.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001001983.3 → NP_001001983.2  phosphatidylinositol 4-kinase alpha isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC110573
      Consensus CDS
      CCDS37271.1
      UniProtKB/TrEMBL
      A0A140T8I9
      Related
      ENSMUSP00000036162.6, ENSMUST00000036161.12
      Conserved Domains (2) summary
      cd00871
      Location:1489 → 1664
      PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...
      cd05167
      Location:1725 → 2043
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha

    2. NM_001373955.1 → NP_001360884.1  phosphatidylinositol 4-kinase alpha isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC110573, KY499708
      UniProtKB/Swiss-Prot
      E9Q3L2, Q3UVT5, Q6DIC7, Q7TNG2, Q80Y45
      UniProtKB/TrEMBL
      A0A1S6GWJ7
      Related
      ENSMUSP00000156049.3, ENSMUST00000232232.3
      Conserved Domains (2) summary
      cd00871
      Location:1550 → 1725
      PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...
      cd05167
      Location:1786 → 2104
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      17098215..17224178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249069.2 → XP_030104929.1  phosphatidylinositol 4-kinase alpha isoform X1

      Conserved Domains (2) summary
      cd00871
      Location:1381 → 1556
      PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...
      cd05167
      Location:1617 → 1935
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha

    2. XM_006522037.3 → XP_006522100.1  phosphatidylinositol 4-kinase alpha isoform X3

      Conserved Domains (2) summary
      cd00871
      Location:616 → 791
      PI4Ka; Phosphoinositide 4-kinase(PI4K), accessory domain (PIK domain); PIK domain is conserved in PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. PI4K phosphorylates hydroxylgroup at position 4 on the ...
      cd05167
      Location:852 → 1170
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha

    3. XM_006522036.5 → XP_006522099.1  phosphatidylinositol 4-kinase alpha isoform X2

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9Q3L2.2 GenPept UniProtKB/Swiss-Prot:E9Q3L2

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