Human Gene PI4KA (uc002zsz.5) Description and Page Index
  Description: Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.
RefSeq Summary (NM_058004): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB210002.1, SRR1803612.268013.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr22:21,061,979-21,213,100 Size: 151,122 Total Exon Count: 55 Strand: -
Coding Region
   Position: hg19 chr22:21,062,335-21,213,013 Size: 150,679 Coding Exon Count: 55 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr22:21,061,979-21,213,100)mRNA (may differ from genome)Protein (2102 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Phosphatidylinositol 4-kinase alpha;
SIMILARITY: Contains 1 PI3K/PI4K domain.
SIMILARITY: Contains 1 PIK helical domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PI4KA
CDC HuGE Published Literature: PI4KA

-  MalaCards Disease Associations
  MalaCards Gene Search: PI4KA
Diseases sorted by gene-association score: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis* (1330), polymicrogyria, bilateral perisylvian* (247), cerebellar hypoplasia (15), polymicrogyria (13), hepatitis c virus (6), short-rib thoracic dysplasia 6 with or without polydactyly (6), velocardiofacial syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C569670 1-(4-((2-(2-aminopyrimidin-5-yl)-7-methyl-4-morpholinothieno(3,2-d)pyrimidin-6-yl)methyl)piperazin-1-yl)-2-hydroxypropan-1-one
  • D015655 1-Methyl-4-phenylpyridinium
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • D000082 Acetaminophen
  • D000643 Ammonium Chloride
  • D002713 Chlorine
  • D002922 Ciguatoxins
  • D002945 Cisplatin
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.50 RPKM in Brain - Cortex
Total median expression: 1017.96 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.1087-0.495 Picture PostScript Text
3' UTR -124.51356-0.350 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016024 - ARM-type_fold
IPR011009 - Kinase-like_dom
IPR000403 - PI3/4_kinase_cat_dom
IPR018936 - PI3/4_kinase_CS
IPR015433 - PI_Kinase
IPR001263 - PInositide-3_kin_accessory_dom

Pfam Domains:
PF00454 - Phosphatidylinositol 3- and 4-kinase
PF00613 - Phosphoinositide 3-kinase family, accessory domain (PIK domain)

SCOP Domains:
48371 - ARM repeat
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on J3KN10
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Descriptions from all associated GenBank mRNAs
  AK302424 - Homo sapiens cDNA FLJ60960 complete cds, highly similar to Phosphatidylinositol 4-kinase alpha (EC
AB210002 - Homo sapiens mRNA for PIK4CA variant protein, clone: fg01236.
AF012872 - Homo sapiens phosphatidylinositol 4-kinase 230 (pi4K230) mRNA, complete cds.
BC172398 - Synthetic construct Homo sapiens clone IMAGE:100069092, MGC:199103 phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA) mRNA, encodes complete protein.
AB384703 - Synthetic construct DNA, clone: pF1KB1434, Homo sapiens PI4KA gene for phosphatidylinositol 4-kinase, catalytic, alpha polypeptide, complete cds, without stop codon, in Flexi system.
BC046202 - Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha polypeptide, mRNA (cDNA clone IMAGE:6154581), partial cds.
AK094594 - Homo sapiens cDNA FLJ37275 fis, clone BRAMY2012277.
HM005575 - Homo sapiens clone HTL-S-35 testicular secretory protein Li 35 mRNA, complete cds.
AK124692 - Homo sapiens cDNA FLJ42702 fis, clone BRAMY3005091, highly similar to Phosphatidylinositol 4-kinase alpha (EC
BC053654 - Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha, mRNA (cDNA clone IMAGE:5757080), partial cds.
L36151 - Homo sapiens phosphatidylinositol 4-kinase mRNA, complete cds.
BC018120 - Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha, mRNA (cDNA clone IMAGE:3912560), partial cds.
AK095811 - Homo sapiens cDNA FLJ38492 fis, clone FEHRT2000325, highly similar to Phosphatidylinositol 4-kinase alpha (EC
JD374451 - Sequence 355475 from Patent EP1572962.
JD547857 - Sequence 528881 from Patent EP1572962.
JD120426 - Sequence 101450 from Patent EP1572962.
JD423065 - Sequence 404089 from Patent EP1572962.
JD378563 - Sequence 359587 from Patent EP1572962.
JD419338 - Sequence 400362 from Patent EP1572962.
AK314781 - Homo sapiens cDNA, FLJ95651, highly similar to Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha polypeptide (PIK4CA), transcript variant 1, mRNA.
DI487283 - KR 1020100056450-A/379: DSRNA FOR TREATING VIRAL INFECTION.
DI487312 - KR 1020100056450-A/408: DSRNA FOR TREATING VIRAL INFECTION.
DI487259 - KR 1020100056450-A/355: DSRNA FOR TREATING VIRAL INFECTION.
DI487237 - KR 1020100056450-A/333: DSRNA FOR TREATING VIRAL INFECTION.
DI487299 - KR 1020100056450-A/395: DSRNA FOR TREATING VIRAL INFECTION.
DI487282 - KR 1020100056450-A/378: DSRNA FOR TREATING VIRAL INFECTION.
DI487251 - KR 1020100056450-A/347: DSRNA FOR TREATING VIRAL INFECTION.
DI487291 - KR 1020100056450-A/387: DSRNA FOR TREATING VIRAL INFECTION.
DI487316 - KR 1020100056450-A/412: DSRNA FOR TREATING VIRAL INFECTION.
DI487268 - KR 1020100056450-A/364: DSRNA FOR TREATING VIRAL INFECTION.
DI487263 - KR 1020100056450-A/359: DSRNA FOR TREATING VIRAL INFECTION.
DI487242 - KR 1020100056450-A/338: DSRNA FOR TREATING VIRAL INFECTION.
DI487301 - KR 1020100056450-A/397: DSRNA FOR TREATING VIRAL INFECTION.
DI487304 - KR 1020100056450-A/400: DSRNA FOR TREATING VIRAL INFECTION.
DI487307 - KR 1020100056450-A/403: DSRNA FOR TREATING VIRAL INFECTION.
HV593195 - JP 2010532163-A/316: dsRNA for treating viral infection.
HW663743 - JP 2013212113-A/212: dsRNA for treating viral infection.
DI487231 - KR 1020100056450-A/327: DSRNA FOR TREATING VIRAL INFECTION.
JD528084 - Sequence 509108 from Patent EP1572962.
JD225879 - Sequence 206903 from Patent EP1572962.
JD225880 - Sequence 206904 from Patent EP1572962.
DI487258 - KR 1020100056450-A/354: DSRNA FOR TREATING VIRAL INFECTION.
AK131431 - Homo sapiens cDNA FLJ16556 fis, clone SPLEN2039379, highly similar to Homo sapiens phosphatidylinositol 4-kinase 230 (pi4K230) mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00562 - Inositol phosphate metabolism
hsa01100 - Metabolic pathways
hsa04070 - Phosphatidylinositol signaling system

BioCyc Knowledge Library
PWY-6351 - D-myo-inositol (1,4,5)-trisphosphate biosynthesis
PWY-6352 - 3-phosphoinositide biosynthesis
PWY3DJ-219 - PIP metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: J3KN10, J3KN10_HUMAN, NM_058004, NP_477352, uc002zsz.4
UCSC ID: uc002zsz.5
RefSeq Accession: NM_058004
Protein: J3KN10 CCDS: CCDS33603.2

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_058004.3
exon count: 55CDS single in 3' UTR: no RNA size: 6768
ORF size: 6309CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 12711.00frame shift in genome: no % Coverage: 99.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.