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    Pip4k2a phosphatidylinositol-5-phosphate 4-kinase, type II, alpha [ Mus musculus (house mouse) ]

    Gene ID: 18718, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pip4k2aprovided by MGI
    Official Full Name
    phosphatidylinositol-5-phosphate 4-kinase, type II, alphaprovided by MGI
    Primary source
    MGI:MGI:1298206
    See related
    Ensembl:ENSMUSG00000026737 AllianceGenome:MGI:1298206
    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
    Pip5k2a
    Summary
    Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity; 1-phosphatidylinositol-5-phosphate 4-kinase activity; and protein homodimerization activity. Involved in autophagosome-lysosome fusion; megakaryocyte development; and regulation of autophagy. Located in lysosome. Is expressed in several structures, including alimentary system; genitourinary system; liver; nervous system; and nose. Orthologous to human PIP4K2A (phosphatidylinositol-5-phosphate 4-kinase type 2 alpha). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 11.5), cerebellum adult (RPKM 9.3) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pip4k2a in Genome Data Viewer
    Location:
    2; 2 A3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (18847066..19003101, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (18842255..18998291, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene 3363 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:18688736-18688845 Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene cardiac and apoptosis-related long non-coding RNA Neighboring gene predicted gene, 33534 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:18845660-18845769 Neighboring gene RIKEN cDNA 4930426L09 gene Neighboring gene STARR-positive B cell enhancer ABC_E5892 Neighboring gene predicted gene, 33592

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. PI5P4Kα supports prostate cancer metabolism and exposes a survival vulnerability during androgen receptor inhibition. Triscott J, et al. Sci Adv, 2023 Feb 3. PMID 36724278, Free PMC Article
    2. A targeted knockdown screen of genes coding for phosphoinositide modulators identifies PIP4K2A as required for acute myeloid leukemia cell proliferation and survival. Jude JG, et al. Oncogene, 2015 Mar 5. PMID 24681948, Free PMC Article
    3. Phosphatidylinositol-5-Phosphate 4-Kinases Regulate Cellular Lipid Metabolism By Facilitating Autophagy. Lundquist MR, et al. Mol Cell, 2018 May 3. PMID 29727621, Free PMC Article
    4. Characterization of the megakaryocyte demarcation membrane system and its role in thrombopoiesis. Schulze H, et al. Blood, 2006 May 15. PMID 16434494, Free PMC Article
    5. A phosphoinositide conversion mechanism for exit from endosomes. Ketel K, et al. Nature, 2016 Jan 21. PMID 26760201

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PIP4K2A to be essential for the clonogenic and leukemia-initiating potential of human AML cells, and for the clonogenic potential of murine MLL-AF9 AML cells.
      Title: A targeted knockdown screen of genes coding for phosphoinositide modulators identifies PIP4K2A as required for acute myeloid leukemia cell proliferation and survival.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol-4-phosphate 5-kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 1-phosphatidylinositol-4-phosphate 5-kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables 1-phosphatidylinositol-5-phosphate 4-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 1-phosphatidylinositol-5-phosphate 4-kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 1-phosphatidylinositol-5-phosphate 4-kinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in autophagosome-lysosome fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in megakaryocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of insulin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of autophagosome assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of autophagosome assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated cholesterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in autophagosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in autophagosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor outer segment 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol 5-phosphate 4-kinase type-2 alpha
    Names
    1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha
    PI(5)P 4-kinase type II alpha
    PI5P4Kalpha
    PIP4KII-alpha
    diphosphoinositide kinase 2-alpha
    phosphatidylinositol-4-phosphate 5-kinase, type II, alpha
    NP_001342075.1
    NP_001342076.1
    NP_001342077.1
    NP_001342078.1
    NP_032871.3
    XP_006497457.1
    XP_006497459.1

    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_001355146.1 → NP_001342075.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL844855, AL928653, AL928680
      UniProtKB/TrEMBL
      Q9CZS7
      Conserved Domains (1) summary
      smart00330
      Location:62 → 392
      PIPKc; Phosphatidylinositol phosphate kinases

    2. NM_001355147.1 → NP_001342076.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL844855, AL928653, AL928680
      UniProtKB/TrEMBL
      Q9CZS7
      Conserved Domains (1) summary
      cl28923
      Location:27 → 352
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family

    3. NM_001355148.1 → NP_001342077.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL844855, AL928653, AL928680
      Conserved Domains (1) summary
      cl02572
      Location:34 → 220
      PIPKc; Phosphatidylinositol phosphate kinases (PIPK) catalyze the phosphorylation of phosphatidylinositol phosphate on the fourth or fifth hydroxyl of the inositol ring, to form phosphatidylinositol bisphosphate. CD alignment includes type II ...

    4. NM_001355149.1 → NP_001342078.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) containss an alternate exon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL844855, AL928653, AL928680
      Conserved Domains (1) summary
      cl28923
      Location:1 → 249
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family

    5. NM_008845.4 → NP_032871.3  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1

      See identical proteins and their annotated locations for NP_032871.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK040558, AL844855
      Consensus CDS
      CCDS15712.1
      UniProtKB/Swiss-Prot
      O70172
      UniProtKB/TrEMBL
      Q544E3, Q9CZS7
      Related
      ENSMUSP00000006912.6, ENSMUST00000006912.12
      Conserved Domains (1) summary
      smart00330
      Location:62 → 405
      PIPKc; Phosphatidylinositol phosphate kinases

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      18847066..19003101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497396.5 → XP_006497459.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

      UniProtKB/TrEMBL
      Q9CZS7
      Conserved Domains (1) summary
      cl28923
      Location:27 → 341
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family

    2. XM_006497394.5 → XP_006497457.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X1

      UniProtKB/TrEMBL
      Q9CZS7
      Conserved Domains (1) summary
      cl28923
      Location:27 → 354
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70172.1 GenPept UniProtKB/Swiss-Prot:O70172

    Gene LinkOut

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