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    Pi4k2a phosphatidylinositol 4-kinase type 2 alpha [ Mus musculus (house mouse) ]

    Gene ID: 84095, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Pi4k2aprovided by MGI
    Official Full Name
    phosphatidylinositol 4-kinase type 2 alphaprovided by MGI
    Primary source
    MGI:MGI:1934031
    See related
    Ensembl:ENSMUSG00000025178 AllianceGenome:MGI:1934031
    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
    Pi4k2
    Summary
    Predicted to enable 1-phosphatidylinositol 4-kinase activity; AP-3 adaptor complex binding activity; and ATP binding activity. Predicted to be involved in several processes, including basophil degranulation; endosome organization; and phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within phosphorylation. Located in several cellular components, including dendrite; neuronal cell body; and presynaptic membrane. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Orthologous to human PI4K2A (phosphatidylinositol 4-kinase type 2 alpha). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 22.2), adrenal adult (RPKM 20.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    19 C3; 19 35.74 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (42078590..42110657)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (42090148..42122218)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4933411K16 gene Neighboring gene 4-hydroxy-2-oxoglutarate aldolase 1 Neighboring gene MORN repeat containing 4 Neighboring gene STARR-seq mESC enhancer starr_46172 Neighboring gene STARR-positive B cell enhancer ABC_E781 Neighboring gene STARR-seq mESC enhancer starr_46173 Neighboring gene STARR-seq mESC enhancer starr_46176 Neighboring gene arginine vasopressin-induced 1 Neighboring gene STARR-seq mESC enhancer starr_46177 Neighboring gene STARR-seq mESC enhancer starr_46178 Neighboring gene STARR-positive B cell enhancer ABC_E5702 Neighboring gene MARVEL (membrane-associating) domain containing 1

    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. Phosphatidylinositol 4-kinase type IIalpha is targeted specifically to cellugyrin-positive glucose transporter 4 vesicles. Xu Z, et al. Mol Endocrinol, 2006 Nov. PMID 16772528
    2. PI4KIIα phosphorylation by GSK3 directs vesicular trafficking to lysosomes. Robinson JW, et al. Biochem J, 2014 Nov 15. PMID 25083612
    3. Phosphatidylinositol-4-kinase type II alpha is a component of adaptor protein-3-derived vesicles. Salazar G, et al. Mol Biol Cell, 2005 Aug. PMID 15944223, Free PMC Article
    4. Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. Khundadze M, et al. Autophagy, 2021 Nov. PMID 33618608, 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 (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.
      Title: Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.
    2. Itch directly associates with and ubiquitinates PI4KIIalpha, and both proteins colocalize on endosomes containing Wnt-activated frizzled 4 (Fz4) receptor
      Title: Phosphatidylinositol 4-kinase IIα function at endosomes is regulated by the ubiquitin ligase Itch.
    3. PI4KIIalpha is a novel regulator of tumor growth by its action on angiogenesis and HIF-1alpha regulation.
      Title: PI4KIIalpha is a novel regulator of tumor growth by its action on angiogenesis and HIF-1alpha regulation.
    4. AP-3 and BLOC-1 act, either in concert or sequentially, to specify sorting of PI4KIIalpha along the endocytic route.
      Title: Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.
    5. The unique N terminus of PI4K type IIalpha is required for the targeting of the enzyme to cellugyrin-positive vesicles.
      Title: Phosphatidylinositol 4-kinase type IIalpha is targeted specifically to cellugyrin-positive glucose transporter 4 vesicles.
    6. PI4KIIalpha is present on adaptor protein (AP) -3 organelles where it regulates AP-3 function
      Title: Phosphatidylinositol-4-kinase type II alpha is a component of adaptor protein-3-derived vesicles.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (2) 
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC37783, MGC118011

    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables AP-3 adaptor complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in basophil degranulation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol biosynthetic 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BLOC-1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in exocytic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in growing cell tip ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane raft ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perikaryon ISO
    Inferred from Sequence Orthology
    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
    		  
    is_active_in presynaptic active zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in presynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol 4-kinase type 2-alpha
    Names
    phosphatidylinositol 4-kinase type II-alpha
    NP_663476.1
    XP_011245707.1
    XP_011245708.1
    XP_036017627.1

    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_145501.2 → NP_663476.1  phosphatidylinositol 4-kinase type 2-alpha

      See identical proteins and their annotated locations for NP_663476.1

      Status: VALIDATED

      Source sequence(s)
      AC133503, AK030725, BY732177
      Consensus CDS
      CCDS29821.1
      UniProtKB/Swiss-Prot
      Q2TBE6
      Related
      ENSMUSP00000069284.5, ENSMUST00000066778.6
      Conserved Domains (1) summary
      pfam00454
      Location:133 → 429
      PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      42078590..42110657
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161734.1 → XP_036017627.1  phosphatidylinositol 4-kinase type 2-alpha isoform X3

      UniProtKB/TrEMBL
      A0A494BBQ4
      Conserved Domains (1) summary
      pfam00454
      Location:133 → 317
      PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase

    2. XM_011247406.4 → XP_011245708.1  phosphatidylinositol 4-kinase type 2-alpha isoform X2

      Conserved Domains (1) summary
      pfam00454
      Location:133 → 406
      PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase

    3. XM_011247405.4 → XP_011245707.1  phosphatidylinositol 4-kinase type 2-alpha isoform X1

      See identical proteins and their annotated locations for XP_011245707.1

      UniProtKB/Swiss-Prot
      Q2TBE6
      Related
      ENSMUSP00000158574.2, ENSMUST00000235932.2
      Conserved Domains (1) summary
      pfam00454
      Location:133 → 429
      PI3_PI4_kinase; Phosphatidylinositol 3- and 4-kinase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TBE6.1 GenPept UniProtKB/Swiss-Prot:Q2TBE6

    Gene LinkOut

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