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

Gene ID: 224020, updated on 9-Dec-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. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 84. Orthologous to human PI4KA (phosphatidylinositol 4-kinase alpha). [provided by Alliance of Genome Resources, Dec 2024]
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. 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
  3. 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
  4. 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
  5. 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

See all (43) 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)
  • Chemically induced (ENU) (2) 
  • Endonuclease-mediated (3)  1 citation
  • Gene trapped (2) 
  • Targeted (8)  1 citation

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
  
Process Evidence Code Pubs
acts_upstream_of_or_within Schwann cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in modulation by host of viral 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 myelination in peripheral nervous system IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
involved_in reorganization of cellular membranes to establish viral sites of replication IEA
Inferred from Electronic Annotation
more info
  
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 cytoplasm ISS
Inferred from Sequence or Structural Similarity
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
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
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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