Human Gene PI4KA (ENST00000255882.11_8) from GENCODE V47lift37
  Description: phosphatidylinositol 4-kinase alpha, transcript variant 1 (from RefSeq NM_058004.4)
Gencode Transcript: ENST00000255882.11_8
Gencode Gene: ENSG00000241973.11_11
Transcript (Including UTRs)
   Position: hg19 chr22:21,061,979-21,213,099 Size: 151,121 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 CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:21,061,979-21,213,099)mRNA (may differ from genome)Protein (2102 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PI4KA_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylinositol 4-kinase alpha; Short=PI4-kinase alpha; Short=PI4K-alpha; Short=PtdIns-4-kinase alpha; EC=2.7.1.67;
FUNCTION: Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol- 1,4,5,-trisphosphate.
CATALYTIC ACTIVITY: ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 4-phosphate.
ENZYME REGULATION: This is a type II PtdIns-4-kinase activated by detergents such as triton and inhibited by adenosine.
TISSUE SPECIFICITY: Expressed ubiquitously. Highest levels in placenta and brain. Little or no expression in lung, liver, pancreas, testis or leukocytes.
SIMILARITY: Belongs to the PI3/PI4-kinase family. Type III PI4K subfamily.
SIMILARITY: Contains 1 PI3K/PI4K domain.
SIMILARITY: Contains 1 PIK helical domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

+  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.2086-0.514 Picture PostScript Text
3' UTR -120.00356-0.337 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)
PF19274 - PI4-kinase N-terminal region

SCOP Domains:
48371 - ARM repeat
56112 - Protein kinase-like (PK-like)
56399 - ADP-ribosylation

ModBase Predicted Comparative 3D Structure on P42356
FrontTopSide
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 orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004430 1-phosphatidylinositol 4-kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0045296 cadherin binding

Biological Process:
GO:0006661 phosphatidylinositol biosynthetic process
GO:0007165 signal transduction
GO:0016310 phosphorylation
GO:0030036 actin cytoskeleton organization
GO:0039694 viral RNA genome replication
GO:0044803 multi-organism membrane organization
GO:0046786 viral replication complex formation and maintenance
GO:0046854 phosphatidylinositol phosphorylation
GO:0048015 phosphatidylinositol-mediated signaling

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0019034 viral replication complex
GO:0030660 Golgi-associated vesicle membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK302424 - Homo sapiens cDNA FLJ60960 complete cds, highly similar to Phosphatidylinositol 4-kinase alpha (EC 2.7.1.67).
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 2.7.1.67).
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 2.7.1.67).
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
  BioCyc Knowledge Library
PWY-6351 - D-myo-inositol (1,4,5)-trisphosphate biosynthesis
PWY-6352 - 3-phosphoinositide biosynthesis
PWY-6371 - superpathway of inositol phosphate compounds

Reactome (by CSHL, EBI, and GO)

Protein P42356 (Reactome details) participates in the following event(s):

R-HSA-1676185 PI is phosphorylated to PI4P by PI4KA/2A/2B at the Golgi membrane
R-HSA-1675813 PI is phosphorylated to PI4P by PI4KA/2B at the ER membrane
R-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-1483255 PI Metabolism
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000255882.1, ENST00000255882.10, ENST00000255882.2, ENST00000255882.3, ENST00000255882.4, ENST00000255882.5, ENST00000255882.6, ENST00000255882.7, ENST00000255882.8, ENST00000255882.9, NM_058004, P42356, PI4KA_HUMAN, PIK4, PIK4CA, Q7Z625, Q9UPG2, uc317ftb.1, uc317ftb.2
UCSC ID: ENST00000255882.11_8
RefSeq Accession: NM_058004.4
Protein: P42356 (aka PI4KA_HUMAN or PI4K_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PI4KA:
pi4ka (PI4KA-Related Disorder)

-  Gene Model Information
  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.