FEATURES

FAMILY

DESCRIPTION

Also known as P4K2A_HUMAN, PI4K2A. Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid that plays important roles in endocytosis, Golgi function, protein sorting and membrane trafficking and is required for prolonged survival of neurons. Besides, phosphorylation of phosphatidylinositol (PI) to phosphatidylinositol 4-phosphate (PI4P) is the first committed step in the generation of phosphatidylinositol 4, 5-bisphosphate (PIP2), a precursor of the second messenger inositol 1, 4, 5-trisphosphate (InsP3). Associates with the BLOC-1 and the AP-3 complexes; the BLOC-1 complex is required for optimal binding of PI4K2A to the AP-3 complex. Interacts with BLOC1S5 and DTNBP1 (PubMed:21998198). Interacts with FOS; this interaction may enhance phosphatidylinositol phosphorylation activity (By similarity). Interacts with ITCH (PubMed:23146885). Interacts with ATG9A (PubMed:30917996).

EXTERNAL LINKS

PI4K2A

Mutations

Mutation(s) distribution

Mutations table