PI4KA (phosphatidylinositol 4-kinase alpha)

2014-09-01  

Identity

HGNC
PI4KA
LOCATION
22q11.21
LOCUSID
5297
ALIAS
PI4K-ALPHA,PIK4CA,PMGYCHA,pi4K230
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/favicon/deep-insight-explorer/