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    PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha [ Homo sapiens (human) ]

    Gene ID: 5305, updated on 15-Jun-2019

    Summary

    Official Symbol
    PIP4K2Aprovided by HGNC
    Official Full Name
    phosphatidylinositol-5-phosphate 4-kinase type 2 alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8997
    See related
    Ensembl:ENSG00000150867 MIM:603140
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIPK; PI5P4KA; PIP5K2A; PIP5KIIA; PIP5KII-alpha
    Summary
    Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 41.4), lymph node (RPKM 29.9) and 23 other tissues See more
    Orthologs

    Genomic context

    See PIP4K2A in Genome Data Viewer
    Location:
    10p12.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (22534837..22714574, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22823766..23003503, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376449 Neighboring gene uncharacterized LOC105376450 Neighboring gene tRNA-Pro (GGG) 1-1 Neighboring gene VISTA enhancer hs2048 Neighboring gene RNA, U6 small nuclear 413, pseudogene Neighboring gene uncharacterized LOC105376451

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • D-myo-inositol (1,4,5)-trisphosphate biosynthesis, organism-specific biosystem (from BIOCYC)
      D-myo-inositol (1,4,5)-trisphosphate biosynthesis, organism-specific biosystemGeneral Background : MYO-INOSITOL "myo-Inositol"-containing phospholipids play an important role in the control of cellular functions within eukaryotic cells, being part of the intracellular signal ...
    • D-myo-inositol (1,4,5)-trisphosphate biosynthesis, conserved biosystem (from BIOCYC)
      D-myo-inositol (1,4,5)-trisphosphate biosynthesis, conserved biosystemGeneral Background |FRAME: MYO-INOSITOL "myo-Inositol"|-containing phospholipids play an important role in the control of cellular functions within eukaryotic cells, being part of the intracellular ...
    • D-myo-inositol-5-phosphate metabolism, organism-specific biosystem (from BIOCYC)
      D-myo-inositol-5-phosphate metabolism, organism-specific biosystemGeneral Background : MYO-INOSITOL "myo-Inositol"-containing phospholipids play an important role in the control of cellular functions, being part of the intracellular signal transductions pathways f...
    • D-myo-inositol-5-phosphate metabolism, conserved biosystem (from BIOCYC)
      D-myo-inositol-5-phosphate metabolism, conserved biosystemGeneral Background |FRAME: MYO-INOSITOL "myo-Inositol"|-containing phospholipids play an important role in the control of cellular functions within eukaryotic cells, being part of the intracellular ...
    • DAP12 interactions, organism-specific biosystem (from REACTOME)
      DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
    • DAP12 signaling, organism-specific biosystem (from REACTOME)
      DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Downstream signaling events of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
    • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
      Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • GAB1 signalosome, organism-specific biosystem (from REACTOME)
      GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Inositol phosphate metabolism, organism-specific biosystem (from KEGG)
      Inositol phosphate metabolism, organism-specific biosystem
      Inositol phosphate metabolism
    • Inositol phosphate metabolism, conserved biosystem (from KEGG)
      Inositol phosphate metabolism, conserved biosystem
      Inositol phosphate metabolism
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Negative regulation of the PI3K/AKT network, organism-specific biosystem (from REACTOME)
      Negative regulation of the PI3K/AKT network, organism-specific biosystemThe PI3K/AKT network is negatively regulated by phosphatases that dephosphorylate PIP3, thus hampering AKT activation.
    • PI Metabolism, organism-specific biosystem (from REACTOME)
      PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
    • PI3K/AKT activation, organism-specific biosystem (from REACTOME)
      PI3K/AKT activation, organism-specific biosystemPI3K/AKT signalling is a major regulator of neuron survival. It blocks cell death by both impinging on the cytoplasmic cell death machinery and by regulating the expression of genes involved in cell...
    • PI5P Regulates TP53 Acetylation, organism-specific biosystem (from REACTOME)
      PI5P Regulates TP53 Acetylation, organism-specific biosystemUnder conditions of cellular stress, nuclear levels of phosphatidylinositol-5-phosphate (PI5P) increase and, through interaction with ING2, result in nuclear retention/accumulation of ING2. ING2 bind...
    • PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, organism-specific biosystem (from REACTOME)
      PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, organism-specific biosystemPhosphatidylinositol-5-phosphate (PI5P) may modulate PI3K/AKT signaling in several ways. PI5P is used as a substrate for production of phosphatidylinositol-4,5-bisphosphate, PI(4,5)P2 (Rameh et al. 1...
    • PIP3 activates AKT signaling, organism-specific biosystem (from REACTOME)
      PIP3 activates AKT signaling, organism-specific biosystemSignaling by AKT is one of the key outcomes of receptor tyrosine kinase (RTK) activation. AKT is activated by the cellular second messenger PIP3, a phospholipid that is generated by PI3K. In ustimula...
    • Phosphatidylinositol signaling system, organism-specific biosystem (from KEGG)
      Phosphatidylinositol signaling system, organism-specific biosystem
      Phosphatidylinositol signaling system
    • Phosphatidylinositol signaling system, conserved biosystem (from KEGG)
      Phosphatidylinositol signaling system, conserved biosystem
      Phosphatidylinositol signaling system
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Acetylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Acetylation, organism-specific biosystemTranscriptional activity of TP53 is positively regulated by acetylation of several of its lysine residues. BRD7 binds TP53 and promotes acetylation of TP53 lysine residue K382 by acetyltransferase EP...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
      Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Synthesis of PIPs at the plasma membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the plasma membrane, organism-specific biosystemAt the plasma membrane, subsequent phosphorylation of phosphatidylinositol 4-phosphate (PI4P) produces phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (...
    • Synthesis of PIPs in the nucleus, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs in the nucleus, organism-specific biosystemUnder conditions of cellular stress, nuclear levels of phosphatidylinositol-5-phosphate (PI5P) increase. Type I phosphatidylinositol 4,5-bisphosphate 4-phosphatase TMEM55B translocates to the nucleus...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
      superpathway of inositol phosphate compounds, organism-specific biosystem
      superpathway of inositol phosphate compounds

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ13267

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol-4-phosphate 5-kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    1-phosphatidylinositol-5-phosphate 4-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    megakaryocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid metabolic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    autophagosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    phosphatidylinositol 5-phosphate 4-kinase type-2 alpha
    Names
    1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha
    1-phosphatidylinositol-4-phosphate kinase
    1-phosphatidylinositol-4-phosphate-5-kinase
    PI(5)P 4-kinase type II alpha
    PIP4KII-alpha
    PIP5KIII
    PIP5KIIalpha
    PtdIns(4)P-5-kinase B isoform
    diphosphoinositide kinase 2-alpha
    phosphatidylinositol 5-phosphate 4-kinase type II alpha
    phosphatidylinositol-4-phosphate 5-kinase, type II, alpha
    ptdIns(4)P-5-kinase C isoform
    ptdIns(5)P-4-kinase isoform 2-alpha
    type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform
    NP_001316991.1
    NP_005019.2
    XP_006717513.1
    XP_016871819.1
    XP_016871820.1
    XP_016871821.1

    NCBI Reference Sequences (RefSeq)

    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_001330062.1NP_001316991.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5'-terminal exon resulting in a different 5' UTR and use of a downstream AUG compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK294817, AL513128, HY318006
      Consensus CDS
      CCDS81443.1
      UniProtKB/Swiss-Prot
      P48426
      Related
      ENSP00000442098.1, ENST00000545335.5
      Conserved Domains (1) summary
      cl28923
      Location:1344
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
    2. NM_005028.5NP_005019.2  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 1

      See identical proteins and their annotated locations for NP_005019.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL390318, AL513128, BC018034, DB504104
      Consensus CDS
      CCDS7141.1
      UniProtKB/Swiss-Prot
      P48426
      Related
      ENSP00000365757.4, ENST00000376573.9
      Conserved Domains (1) summary
      cd17309
      Location:27403
      PIPKc_PIP5K2A; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain found in Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha (PIP5K2A) and similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      22534837..22714578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717450.2XP_006717513.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X1

      See identical proteins and their annotated locations for XP_006717513.1

      Conserved Domains (1) summary
      cl02572
      Location:62354
      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 ...
    2. XM_017016330.1XP_016871819.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

      UniProtKB/Swiss-Prot
      P48426
      Conserved Domains (1) summary
      cl28923
      Location:1344
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
    3. XM_017016331.1XP_016871820.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X2

      UniProtKB/Swiss-Prot
      P48426
      Conserved Domains (1) summary
      cl28923
      Location:1344
      PIPKc; Phosphatidylinositol phosphate kinase (PIPK) catalytic domain family
    4. XM_017016332.1XP_016871821.1  phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform X3

      Conserved Domains (1) summary
      cl02572
      Location:3295
      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 ...
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