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Aliases for PI4KA Gene

Aliases for PI4KA Gene

  • Phosphatidylinositol 4-Kinase, Catalytic, Alpha 2 3
  • 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
  • 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, Catalytic, 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 Integrins in angiogenesis and Metabolism. 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

Gene Wiki entry for PI4KA Gene

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

Genomics for PI4KA Gene

Regulatory Elements for PI4KA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    2044 amino acids
    Molecular mass:
    231319 Da
    Quaternary structure:
    No Data Available

    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 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.
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 IBA --
GO:0005488 binding --
GO:0005515 protein binding IPI 14676841
GO:0005524 ATP binding IEA --
GO:0016773 phosphotransferase activity, alcohol group as acceptor --
genes like me logo Genes that share ontologies with PI4KA: view
genes like me logo Genes that share phenotypes with PI4KA: view

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. Membrane. Note=Associates with the membranes of Golgi vesicles and vacuoles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PI4KA Gene COMPARTMENTS Subcellular localization image for PI4KA gene
Compartment Confidence
extracellular 5
cytosol 4
golgi apparatus 4
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PI4KA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA 19946888
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007165 signal transduction NAS 7961848
GO:0044281 small molecule metabolic process TAS --
GO:0046854 phosphatidylinositol phosphorylation IBA --
genes like me logo Genes that share ontologies with PI4KA: view

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 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
Antagonist, Gating inhibitor 58-64-0
Phosphatidylinositol
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PI4KA

Flow Cytometry Products

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

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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
cow
(Bos Taurus)
Mammalia PI4KA 35
  • 87.19 (n)
  • 93.39 (a)
PI4KA 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PI4KA 35
  • 90.8 (n)
  • 97.59 (a)
PI4KA 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pi4ka 35
  • 89.29 (n)
  • 97.65 (a)
Pi4ka 16
Pi4ka 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PI4KA 35
  • 99.45 (n)
  • 99.76 (a)
PI4KA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pi4ka 35
  • 89.35 (n)
  • 97.4 (a)
oppossum
(Monodelphis domestica)
Mammalia PI4KA 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves PI4KA 35
  • 79.21 (n)
  • 92.38 (a)
PI4KA 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PI4KA 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pi4ka 35
  • 76.75 (n)
  • 89.32 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23876 35
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 35
  • 55.36 (n)
  • 48.61 (a)
PI4KIIIalpha 36
  • 45 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y75B8A.24 35
  • 49.2 (n)
  • 42.59 (a)
Y75B8A.24 36
  • 38 (a)
OneToOne
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 MAF
rs13471 -- 20,707,980(-) CCCTG(A/C/T)GACCT utr-variant-3-prime, nc-transcript-variant
rs104658 -- 20,844,592(+) CTGAA(A/C/T)GCCTG intron-variant
rs165584 -- 20,808,740(+) gtggt(A/G)tgatc intron-variant
rs165589 -- 20,770,238(+) ccggg(A/C)gcagt intron-variant
rs165590 -- 20,814,496(+) tataa(A/T)cccag 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: .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, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
  • pmgycha
polymicrogyria, bilateral perisylvian
  • bilateral perisylvian polymicrogyria
hepatitis c virus
  • hepatitic c virus
velocardiofacial syndrome
  • 22q11 deletion syndrome
- elite association
Search PI4KA in MalaCards View complete list of genes associated with diseases

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 UniProtKB/Swiss-Prot and 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 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) 23 67
  3. Wnt3a-mediated formation of phosphatidylinositol 4,5-bisphosphate regulates LRP6 phosphorylation. (PMID: 18772438) Pan W. … Wu D. (Science 2008) 23 67
  4. Phosphatidylinositol-4-kinase type II alpha contains an AP-3-sorting motif and a kinase domain that are both required for endosome traffic. (PMID: 18256276) Craige B. … Faundez V. (Mol. Biol. Cell 2008) 23 67
  5. A plasma membrane pool of phosphatidylinositol 4-phosphate is generated by phosphatidylinositol 4-kinase type-III alpha: studies with the PH domains of the oxysterol binding protein and FAPP1. (PMID: 15635101) Balla A. … Balla T. (Mol. Biol. Cell 2005) 23 67

Products for PI4KA Gene

Sources for PI4KA Gene

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