| 简介 | 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]
Diseases associated with PI4KA include Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities and Gastrointestinal Defects And Immunodeficiency Syndrome 2. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is PI4KB.
Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.
Activated by Triton X-100, insensitive to inhibition by adenosine and inhibited by wortmannin (By similarity).
Isoform 2 is activated by detergents such as Triton X-100 and inhibited by adenosine (PubMed:7961848).
The PI4K complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:23229899, 26571211).
Interaction with TMEM150A regulates PtdIns(4)P synthesis (PubMed:25608530).
phosphatidylinositol 4-kinase,catalytic,alpha polypeptide
Cytoplasm {ECO:0000269 PubMed:23229899, 24417819}5
Cell membrane {ECO:0000269 PubMed:23229899, 24417819}5
Note: Localization to the plasma membrane is mediated by the PI4K complex and association with EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2) (PubMed:23229899). Localization to the plasma membrane is regulated by TMEM150A (PubMed:25608530) {ECO:0000269 PubMed:23229899, 25608530}
Quaternary structure:
Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2) (PubMed:23229899, 24417819, 26571211, 34415310).
Interacts with TMEM150A; regulating recruitment to the plasma membrane (PubMed:25608530).
Interacts with TTC7A (PubMed:34415310). |
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