PI4KA (phosphatidylinositol 4-kinase alpha)

2014-09-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
PI4K-ALPHA,PIK4CA,PMGYCHA,pi4K230
FUSION GENES

Other Information

Locus ID:

NCBI: 5297
MIM: 600286
HGNC: 8983
Ensembl: ENSG00000241973

Variants:

dbSNP: 5297
ClinVar: 5297
TCGA: ENSG00000241973
COSMIC: PI4KA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000241973ENST00000255882P42356
ENSG00000241973ENST00000399213A8MTF1
ENSG00000241973ENST00000449120C9JLI1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGhsa_M00130
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGM00130
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the ER membraneREACTOMER-HSA-1483248
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
373909002023Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.2
374532272023PI4KA and PIKfyve: Essential phosphoinositide signaling enzymes involved in myriad human diseases.4
378130992023CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation.0
379794612023Structural basis for the conserved roles of PI4KA and its regulatory partners and their misregulation in disease.2
379964442023Adaptor proteins mediate CXCR4 and PI4KA crosstalk in prostate cancer cells and the significance of PI4KA in bone tumor growth.0
373909002023Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.2
374532272023PI4KA and PIKfyve: Essential phosphoinositide signaling enzymes involved in myriad human diseases.4
378130992023CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation.0
379794612023Structural basis for the conserved roles of PI4KA and its regulatory partners and their misregulation in disease.2
379964442023Adaptor proteins mediate CXCR4 and PI4KA crosstalk in prostate cancer cells and the significance of PI4KA in bone tumor growth.0
363413552022A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression.0
363413552022A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression.0
344153102021Biallelic PI4KA variants cause neurological, intestinal and immunological disease.10
344153222021Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.11
345040762021Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity.24

Citation

Dessen P

PI4KA (phosphatidylinositol 4-kinase alpha)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54852/css/js/cancer-prone-explorer/