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Aliases for PI4KA Gene

Aliases for PI4KA Gene

  • Phosphatidylinositol 4-Kinase Alpha 2 3
  • Phosphatidylinositol 4-Kinase, Catalytic, Alpha 2 3 5
  • PtdIns-4-Kinase Alpha 3 4
  • PI4-Kinase Alpha 3 4
  • EC 2.7.1.67 4 63
  • PI4K-ALPHA 3 4
  • PIK4CA 3 4
  • Phosphatidylinositol 4-Kinase, Type III, Alpha 3
  • Testicular Secretory Protein Li 35 3
  • Phosphatidylinositol 4-Kinase 230 3
  • PMGYCHA 3
  • Pi4K230 3
  • PIK4 4

External Ids for PI4KA Gene

Previous HGNC Symbols for PI4KA Gene

  • PIK4CA

Previous GeneCards Identifiers for PI4KA Gene

  • GC22M019391
  • GC22M021061
  • GC22M004329

Summaries for PI4KA Gene

Entrez Gene Summary for PI4KA Gene

  • 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. [provided by RefSeq, Sep 2014]

GeneCards Summary for PI4KA Gene

PI4KA (Phosphatidylinositol 4-Kinase Alpha) is a Protein Coding gene. Diseases associated with PI4KA include polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis and polymicrogyria, bilateral perisylvian. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity.

UniProtKB/Swiss-Prot for PI4KA Gene

  • Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.

Tocris Summary for PI4KA Gene

Gene Wiki entry for PI4KA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PI4KA Gene

Genomics for PI4KA Gene

Regulatory Elements for PI4KA Gene

Promoters for PI4KA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PI4KA on UCSC Golden Path with GeneCards custom track

Genomic Location for PI4KA Gene

Chromosome:
22
Start:
20,707,691 bp from pter
End:
20,859,417 bp from pter
Size:
151,727 bases
Orientation:
Minus strand

Genomic View for PI4KA Gene

Genes around PI4KA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PI4KA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PI4KA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PI4KA Gene

Proteins for PI4KA Gene

  • Protein details for PI4KA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42356-PI4KA_HUMAN
    Recommended name:
    Phosphatidylinositol 4-kinase alpha
    Protein Accession:
    P42356
    Secondary Accessions:
    • Q7Z625
    • Q9UPG2

    Protein attributes for PI4KA Gene

    Size:
    2102 amino acids
    Molecular mass:
    236830 Da
    Quaternary structure:
    • Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:23229899, PubMed:24417819, PubMed:26571211). Interacts with TMEM150A; regulating recruitment to the plasma membrane (PubMed:25608530).

    Alternative splice isoforms for PI4KA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PI4KA Gene

Proteomics data for PI4KA Gene at MOPED

Selected DME Specific Peptides for PI4KA Gene

Post-translational modifications for PI4KA Gene

  • Ubiquitination at Lys 1019, Lys 1505, and Lys 1691
  • Modification sites at PhosphoSitePlus

Other Protein References for PI4KA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PI4KA Gene

Gene Families for PI4KA Gene

Suggested Antigen Peptide Sequences for PI4KA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42356

UniProtKB/Swiss-Prot:

PI4KA_HUMAN :
  • Contains 1 PI3K/PI4K domain.
  • Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
Domain:
  • Contains 1 PI3K/PI4K domain.
  • Contains 1 PIK helical domain.
Family:
  • Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
genes like me logo Genes that share domains with PI4KA: view

Function for PI4KA Gene

Molecular function for PI4KA Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=300 uM for ATP {ECO:0000269 PubMed:10101268};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 4-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by Triton X-100, insensitive to inhibition by adenosine and inhibited by wortmannin (By similarity). Isoform 2 is activated by detergents such as Triton X-100 and inhibited by adenosine (PubMed:7961848). The PI4K complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:23229899, PubMed:26571211). Interaction with TMEM150A regulates PtdIns(4)P synthesis (PubMed:25608530).
UniProtKB/Swiss-Prot Function:
Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.

Enzyme Numbers (IUBMB) for PI4KA Gene

Gene Ontology (GO) - Molecular Function for PI4KA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004430 1-phosphatidylinositol 4-kinase activity TAS --
genes like me logo Genes that share ontologies with PI4KA: view
genes like me logo Genes that share phenotypes with PI4KA: view

Human Phenotype Ontology for PI4KA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PI4KA Gene

MGI Knock Outs for PI4KA:

Animal Model Products

miRNA for PI4KA Gene

miRTarBase miRNAs that target PI4KA

No data available for Transcription Factor Targets and HOMER Transcription for PI4KA Gene

Localization for PI4KA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PI4KA Gene

Cytoplasm. Cell membrane. Note=Localization to the plasma membrane is mediated by the PI4K complex and association with EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:23229899). Localization to the plasma membrane is regulated by TMEM150A (PubMed:25608530). {ECO:0000269 PubMed:23229899, ECO:0000269 PubMed:25608530}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PI4KA Gene COMPARTMENTS Subcellular localization image for PI4KA gene
Compartment Confidence
cytosol 5
extracellular 5
golgi apparatus 5
plasma membrane 5
nucleus 3
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PI4KA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PI4KA: view

Pathways & Interactions for PI4KA Gene

genes like me logo Genes that share pathways with PI4KA: view

Gene Ontology (GO) - Biological Process for PI4KA Gene

None

No data available for SIGNOR curated interactions for PI4KA Gene

Drugs & Compounds for PI4KA Gene

(2) Drugs for PI4KA Gene - From: HMDB and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Wortmannin Pharma PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0

(3) Additional Compounds for PI4KA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PI4KA: view

Transcripts for PI4KA Gene

Unigene Clusters for PI4KA Gene

Phosphatidylinositol 4-kinase, catalytic, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PI4KA Gene

No ASD Table

Relevant External Links for PI4KA Gene

GeneLoc Exon Structure for
PI4KA
ECgene alternative splicing isoforms for
PI4KA

Expression for PI4KA Gene

mRNA expression in normal human tissues for PI4KA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PI4KA Gene

This gene is overexpressed in Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for PI4KA Gene

This gene is overexpressed in Placenta (10.6), Peripheral blood mononuclear cells (9.3), Frontal cortex (8.4), and Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for PI4KA Gene



SOURCE GeneReport for Unigene cluster for PI4KA Gene Hs.529438

mRNA Expression by UniProt/SwissProt for PI4KA Gene

P42356-PI4KA_HUMAN
Tissue specificity: Expressed ubiquitously. Highest levels in placenta and brain. Little or no expression in lung, liver, pancreas, testis or leukocytes.
genes like me logo Genes that share expression patterns with PI4KA: view

Protein tissue co-expression partners for PI4KA Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PI4KA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PI4KA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PI4KA 36
  • 100 (a)
OneToOne
PI4KA 35
  • 99.45 (n)
  • 99.76 (a)
cow
(Bos Taurus)
Mammalia PI4KA 36
  • 94 (a)
OneToOne
PI4KA 35
  • 87.19 (n)
  • 93.39 (a)
dog
(Canis familiaris)
Mammalia PI4KA 35
  • 90.8 (n)
  • 97.59 (a)
PI4KA 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pi4ka 36
  • 98 (a)
OneToOne
Pi4ka 16
Pi4ka 35
  • 89.29 (n)
  • 97.65 (a)
oppossum
(Monodelphis domestica)
Mammalia PI4KA 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pi4ka 35
  • 89.35 (n)
  • 97.4 (a)
chicken
(Gallus gallus)
Aves PI4KA 36
  • 90 (a)
OneToOne
PI4KA 35
  • 79.21 (n)
  • 92.38 (a)
lizard
(Anolis carolinensis)
Reptilia PI4KA 36
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23876 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pi4ka 35
  • 76.75 (n)
  • 89.32 (a)
zebrafish
(Danio rerio)
Actinopterygii pi4kaa 35
  • 75.17 (n)
  • 83.3 (a)
pi4kaa 36
  • 82 (a)
OneToMany
pi4kab 36
  • 77 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010801 35
  • 56.07 (n)
  • 50.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta PI4KIIIalpha 36
  • 45 (a)
OneToOne
PI4KIIIalpha 35
  • 55.36 (n)
  • 48.61 (a)
worm
(Caenorhabditis elegans)
Secernentea Y75B8A.24 36
  • 38 (a)
OneToOne
CELE_Y75B8A.24 35
  • 49.2 (n)
  • 42.59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STT4 36
  • 25 (a)
OneToOne
STT4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ATPI4K ALPHA 35
  • 43.21 (n)
  • 31.97 (a)
rice
(Oryza sativa)
Liliopsida Os03g0711200 35
  • 47.92 (n)
  • 40.8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
-- 36
  • 45 (a)
OneToMany
Species with no ortholog for PI4KA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PI4KA Gene

ENSEMBL:
Gene Tree for PI4KA (if available)
TreeFam:
Gene Tree for PI4KA (if available)

Paralogs for PI4KA Gene

(4) SIMAP similar genes for PI4KA Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for PI4KA Gene

genes like me logo Genes that share paralogs with PI4KA: view

No data available for Paralogs for PI4KA Gene

Variants for PI4KA Gene

Sequence variations from dbSNP and Humsavar for PI4KA Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs17819211 - 20,807,392(+) CAGCA(C/T)CTTGA nc-transcript-variant, reference, missense
rs2539908 - 20,713,301(+) TCCCA(C/G)CTTGA nc-transcript-variant, reference, missense
VAR_074640 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA)
rs13471 -- 20,707,980(-) CCCTG(A/C/T)GACCT nc-transcript-variant, utr-variant-3-prime
rs434718 -- 20,709,757(+) AGGGG(C/T)AGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PI4KA Gene

Variant ID Type Subtype PubMed ID
nsv436864 CNV Insertion 17901297
nsv914390 CNV Gain 21882294
nsv523162 CNV Loss 19592680
nsv518753 CNV Loss 19592680
nsv914417 CNV Gain 21882294
nsv471533 CNV Duplication 19718026
esv26322 CNV Gain+Loss 19812545
esv2678175 CNV Deletion 23128226
nsv914418 CNV Gain 21882294
nsv834140 CNV Loss 17160897
nsv914419 CNV Gain 21882294
esv2724008 CNV Deletion 23290073
esv2667832 CNV Deletion 23128226

Variation tolerance for PI4KA Gene

Residual Variation Intolerance Score: 0.59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PI4KA Gene

HapMap Linkage Disequilibrium report
PI4KA
Human Gene Mutation Database (HGMD)
PI4KA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PI4KA Gene

Disorders for PI4KA Gene

MalaCards: The human disease database

(4) MalaCards diseases for PI4KA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PI4KA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PI4KA_HUMAN
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA) [MIM:616531]: A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYCHA patients manifest perisylvian polymicrogyria, cerebellar hypoplasia or dysplasia, and variable contractures of the limbs or fingers. {ECO:0000269 PubMed:25855803}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PI4KA

Genetic Association Database (GAD)
PI4KA
Human Genome Epidemiology (HuGE) Navigator
PI4KA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PI4KA
genes like me logo Genes that share disorders with PI4KA: view

No data available for Genatlas for PI4KA Gene

Publications for PI4KA Gene

  1. Cloning and characterization of a human phosphatidylinositol 4- kinase. (PMID: 7961848) Wong K. … Cantley L.C. (J. Biol. Chem. 1994) 2 3 4 23 67
  2. Kinases required in hepatitis C virus entry and replication highlighted by small interference RNA screening. (PMID: 19608626) Trotard M. … Le Seyec J. (FASEB J. 2009) 3 23
  3. Polymorphism screening of PIK4CA: possible candidate gene for chromosome 22q11-linked psychiatric disorders. (PMID: 12497619) Saito T. … Lachman H.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003) 3 23
  4. Functional expression and characterisation of a new human phosphatidylinositol 4-kinase PI4K230. (PMID: 10101268) Gehrmann T. … Heilmeyer L.M.G. Jr. (Biochim. Biophys. Acta 1999) 3 23
  5. Cloning, expression, and localization of 230-kDa phosphatidylinositol 4-kinase. (PMID: 8662589) Nakagawa T. … Kondo H. (J. Biol. Chem. 1996) 2 3

Products for PI4KA Gene

Sources for PI4KA Gene

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