PI4K2A
Function
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).
Involvement in disease
Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
NEDMSB
An autosomal recessive disorder characterized by failure to thrive, global developmental delay with intellectual disability and absent speech, seizures, hypotonia, inability to walk, orofacial dyskinesia, involuntary movements, and structural brain abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoylated by ZDHHC3 and ZDHHC7 in the CCPCC motif. Palmitoylation is cholesterol-dependent, and required for TGN localization.
Ubiquitinated by ITCH; this does not lead to proteasomal degradation.
Sequence Similarities
Belongs to the PI3/PI4-kinase family. Type II PI4K subfamily.
Tissue Specificity
Widely expressed. Highest expression is observed in kidney, brain, heart, skeletal muscle, and placenta and lowest expression is observed in colon, thymus, and small intestine.
Cellular localization
- Golgi apparatus
- trans-Golgi network membrane
- Lipid-anchor
- Membrane raft
- Cell projection
- Dendrite
- Presynaptic cell membrane
- Synapse
- Synaptosome
- Mitochondrion
- Endosome
- Endosome membrane
- Cytoplasmic vesicle
- Membrane
- Lipid-anchor
- Cell membrane
- Perikaryon
- Cell projection
- Neuron projection
- Found in subdomains of the plasma membrane termed non-caveolar membrane rafts. Transported from neuronal cell body to neuron projections and neurite tips in a BLOC-1- and AP-3-complexes-dependent manner.
Alternative names
Phosphatidylinositol 4-kinase type 2-alpha, Phosphatidylinositol 4-kinase type II-alpha, PI4K2A