NCF1 phospho S304
Domain
The PX domain mediates interaction with phosphatidylinositol 3,4-bisphosphate and other anionic phospholipids. In the autoinhibited, unphosphorylated state an intramolecular interaction with the C-terminal SH3 domain precludes phospholipid binding and interaction with CYBA. Phosphorylation disrupts the autoinhibited state.
Function
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).
Involvement in disease
Granulomatous disease, chronic, autosomal recessive, 1
CGD1
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity.
Tissue Specificity
Detected in peripheral blood monocytes and neutrophils (at protein level).
Cellular localization
- Cytoplasm
- Cytosol
- Membrane
- Peripheral membrane protein
- Cytoplasmic side
Alternative names
NOXO2, SH3PXD1A, NCF1, Neutrophil cytosol factor 1, NCF-1, 47 kDa autosomal chronic granulomatous disease protein, 47 kDa neutrophil oxidase factor, NCF-47K, Neutrophil NADPH oxidase factor 1, Nox organizer 2, Nox-organizing protein 2, SH3 and PX domain-containing protein 1A, p47-phox