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

    Gene ID: 5297, updated on 10-Oct-2024

    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; AllianceGenome:HGNC:8983
    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
    SPG84; GIDID2; 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
    NEW
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    Genomic context

    See PI4KA in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    57
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20707691..20858811, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21116400..21267532, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21061979..21213099, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21051020-21051636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21057515-21058087 Neighboring gene transmembrane protein 191A (pseudogene) Neighboring gene BCR pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21089235-21089736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21105755-21106552 Neighboring gene Sharpr-MPRA regulatory region 10582 Neighboring gene serpin family D member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13500 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:21213217-21214026 Neighboring gene Sharpr-MPRA regulatory region 10319 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21227050-21227239 Neighboring gene MPRA-validated peak4460 silencer Neighboring gene synaptosome associated protein 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21240059-21240559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18689 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:21278919-21279566 Neighboring gene CRK like proto-oncogene, adaptor protein Neighboring gene uncharacterized LOC124905167

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16556

    Gene Ontology Provided by GOA

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables 1-phosphatidylinositol 4-kinase activity TAS
    Traceable Author Statement
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadherin binding HDA PubMed 
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi-associated vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    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_001349791.1
    NP_001349792.1
    NP_477352.3
    XP_005261692.1
    XP_011528528.1
    XP_011528530.1
    XP_047297364.1
    XP_047297365.1
    XP_047297366.1
    XP_054181670.1
    XP_054181671.1
    XP_054181672.1
    XP_054181673.1
    XP_054181674.1
    XP_054181675.1
    XP_054181676.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033052.2 RefSeqGene

      Range
      5002..156122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001362862.2NP_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
      UniProtKB/TrEMBL
      B4DYG5
      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_001362863.2NP_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
      UniProtKB/TrEMBL
      B4DYG5
      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_058004.4NP_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, Q7Z625, Q9UPG2
      UniProtKB/TrEMBL
      B4DYG5
      Related
      ENSP00000255882.6, ENST00000255882.11
      Conserved Domains (3) 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
      pfam19274
      Location:3781514
      PI4K_N; PI4-kinase N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      20707691..20858811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261635.2XP_005261692.1  phosphatidylinositol 4-kinase alpha isoform X2

      UniProtKB/TrEMBL
      Q4LE69
      Conserved Domains (1) summary
      cd05167
      Location:15351853
      PI4Kc_III_alpha; Catalytic domain of Type III Phosphoinositide 4-kinase alpha
    2. XM_047441410.1XP_047297366.1  phosphatidylinositol 4-kinase alpha isoform X6

    3. XM_047441408.1XP_047297364.1  phosphatidylinositol 4-kinase alpha isoform X1

    4. XM_011530226.2XP_011528528.1  phosphatidylinositol 4-kinase alpha isoform X3

    5. XM_011530228.3XP_011528530.1  phosphatidylinositol 4-kinase alpha isoform X5

    6. XM_047441409.1XP_047297365.1  phosphatidylinositol 4-kinase alpha isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21116400..21267532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325696.1XP_054181671.1  phosphatidylinositol 4-kinase alpha isoform X2

    2. XM_054325700.1XP_054181675.1  phosphatidylinositol 4-kinase alpha isoform X6

    3. XM_054325701.1XP_054181676.1  phosphatidylinositol 4-kinase alpha isoform X7

      UniProtKB/TrEMBL
      A0A140VK35
    4. XM_054325695.1XP_054181670.1  phosphatidylinositol 4-kinase alpha isoform X1

    5. XM_054325697.1XP_054181672.1  phosphatidylinositol 4-kinase alpha isoform X3

    6. XM_054325699.1XP_054181674.1  phosphatidylinositol 4-kinase alpha isoform X5

    7. XM_054325698.1XP_054181673.1  phosphatidylinositol 4-kinase alpha isoform X4

    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.