phosphatidylinositol 4-kinase alpha

Summary
Gene Symbol
  • PI4KA
Aliases
  • PI4K-ALPHA
  • phosphatidylinositol 4-kinase III alpha
  • phosphatidylinositol 4-kinase IIIα
  • pi4K230
Organism
Homo sapiens (human)
External Links
NCBI Gene
5297
HGNC
8983
KEGG Gene ID
hsa:5297
PubChem
5297
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Alternative splicing
  • Cell membrane
  • Cytoplasm
  • Disease variant
  • Hereditary spastic paraplegia
  • Kinase
  • Lipid metabolism
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 3 entries
UniProt Protein Name
B4DYG5
P42356
  • Phosphatidylinositol 4-Kinase III alpha
Q4LE69
Gene Ontology (GO)
Displaying entries 6 - 7 of 7 in total
GO Term Evidence Code PMID
signal transduction
phosphatidylinositol-mediated signaling
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000241973

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00888
Name
phosphatidylinositol 4-kinase A [EC:2.7.1.67]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 32 in total
DO ID Disease Name Source
DOID:0060337 CEDNIK syndrome
DOID:0060413 chromosome 22q11.2 deletion syndrome, distal
DOID:0060787 hypomyelinating leukodystrophy 2
DOID:0080348 Alzheimer's disease 1
DOID:0110035 Alzheimer's disease 2
DOID:0110037 Alzheimer's disease 5
DOID:0110038 Alzheimer's disease 6
DOID:0110039 Alzheimer's disease 7
DOID:0110041 Alzheimer's disease 8
DOID:0110043 Alzheimer's disease 10
The Human Phenotype Ontology
Displaying entries 1 - 10 of 128 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000012 Urinary urgency
HP:0000143 Rectovaginal fistula
HP:0000252 Microcephaly
HP:0000268 Dolichocephaly
HP:0000347 Micrognathia
HP:0000365 Hearing impairment
HP:0000453 Choanal atresia
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
Displaying all 5 entries
Disease ID Disease Name
OMIM:619621
  • spastic paraplegia 84, autosomal recessive
ORPHA:98889
  • bilateral perisylvian polymicrogyria
OMIM:616531
  • polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
ORPHA:436252
  • gastrointestinal defects and immunodeficiency syndrome 1
  • multiple intestinal atresia
OMIM:619708
  • gastrointestinal defects and immunodeficiency syndrome 2
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001390
Gene Name
phosphatidylinositol 4-kinase, catalytic, alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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