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

Gene ID: 5297, updated on 3-May-2020

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
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 BCR 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 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

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
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol kinase activity IBA
Inferred from Biological aspect of Ancestor
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_001349791.1
NP_001349792.1
NP_477352.3
XP_005261692.1
XP_011528528.1
XP_011528530.1
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_033052.2 RefSeqGene

    Range
    5002..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_058004.4NP_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
    UniProtKB/TrEMBL
    B4DYG5, Q4LE69
    Related
    ENSP00000255882.6, ENST00000255882.11
    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 Updated 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_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. 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
  2. XM_017028830.1XP_016884319.1  phosphatidylinositol 4-kinase alpha isoform X4

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

  4. 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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