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    PI4KA phosphatidylinositol 4-kinase alpha [ Homo sapiens (human) ]

    Gene ID: 5297, updated on 12-Aug-2018

    Summary

    Official Symbol
    PI4KAprovided by HGNC
    Official Full Name
    phosphatidylinositol 4-kinase alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8983
    See related
    Ensembl:ENSG00000241973 MIM:600286; Vega:OTTHUMG00000167440
    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
    PIK4CA; PMGYCHA; pi4K230; PI4K-ALPHA
    Summary
    This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]
    Expression
    Ubiquitous expression in brain (RPKM 52.3), testis (RPKM 23.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See PI4KA in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (20707691..20858812, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21061979..21213100, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985584 Neighboring gene transmembrane protein 191A (pseudogene) Neighboring gene breakpoint cluster region pseudogene 5 Neighboring gene serpin family D member 1 Neighboring gene synaptosome associated protein 29 Neighboring gene CRK like proto-oncogene, adaptor protein

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ16556

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol 4-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    1-phosphatidylinositol 4-kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    1-phosphatidylinositol 4-kinase activity TAS
    Traceable Author Statement
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    cadherin binding HDA PubMed 
    kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    multi-organism membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    viral RNA genome replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    viral replication complex formation and maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi-associated vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    focal adhesion HDA PubMed 
    membrane HDA PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    viral replication complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 4-kinase alpha
    Names
    PI4-kinase alpha
    phosphatidylinositol 4-kinase 230
    phosphatidylinositol 4-kinase III alpha
    phosphatidylinositol 4-kinase IIII+/-
    phosphatidylinositol 4-kinase, catalytic, alpha
    phosphatidylinositol 4-kinase, type III, alpha
    ptdIns-4-kinase alpha
    testicular secretory protein Li 35
    NP_477352.3
    XP_005261691.1
    XP_005261692.1
    XP_011528528.1
    XP_011528530.1
    XP_016884318.1
    XP_016884319.1

    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.

    Genomic

    1. NG_033052.1 RefSeqGene

      Range
      5001..156122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001362862.1NP_001349791.1  phosphatidylinositol 4-kinase alpha isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon, compared to variant 1, and encodes a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC007050, AC007308, BU685224
      Conserved Domains (2) summary
      cd00871
      Location:15161691
      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:17522070
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
    2. NM_001362863.1NP_001349792.1  phosphatidylinositol 4-kinase alpha isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon, compared to variant 1, and encodes a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC007050, AC007308, BU685224
      Conserved Domains (2) summary
      cd00871
      Location:15251700
      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:17612079
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
    3. NM_058004.3NP_477352.3  phosphatidylinositol 4-kinase alpha isoform 1

      See identical proteins and their annotated locations for NP_477352.3

      Status: REVIEWED

      Source sequence(s)
      AB210002, AK302424, AL048955, BU685224, DA959365
      Consensus CDS
      CCDS33603.2
      UniProtKB/Swiss-Prot
      P42356
      UniProtKB/TrEMBL
      B4DYG5, Q4LE69
      Related
      ENSP00000255882.6, OTTHUMP00000028907, ENST00000255882.10, OTTHUMT00000075723
      Conserved Domains (2) summary
      cd00871
      Location:15471722
      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:17832101
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

      Range
      20707691..20858812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028829.1XP_016884318.1  phosphatidylinositol 4-kinase alpha isoform X1

    2. XM_005261634.1XP_005261691.1  phosphatidylinositol 4-kinase alpha isoform X2

    3. XM_005261635.1XP_005261692.1  phosphatidylinositol 4-kinase alpha isoform X3

      Conserved Domains (1) summary
      cd05167
      Location:15351853
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
    4. XM_017028830.1XP_016884319.1  phosphatidylinositol 4-kinase alpha isoform X4

    5. XM_011530226.1XP_011528528.1  phosphatidylinositol 4-kinase alpha isoform X5

    6. XM_011530228.2XP_011528530.1  phosphatidylinositol 4-kinase alpha isoform X6

    RNA

    1. XR_937868.1 RNA Sequence

    2. XR_001755251.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002650.2: Suppressed sequence

      Description
      NM_002650.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript appears to be incomplete at the 5' end.
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