NCF1 cdna clone
NCF1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
Uniprot Description
p47phox: the 47-kilodalton cytosolic subunit of the multi-protein complex known as NADPH oxidase found in neutrophils. The holo-oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Contains 2 SH2 domains. Mutations in NCF1, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease.
Protein type: Oxidoreductase; EC 1.-.-.-
Chromosomal Location of Human Ortholog: 7q11.23
Cellular Component: cytosol; extrinsic to membrane; NADPH oxidase complex
Molecular Function: electron carrier activity; phosphatidylinositol-3,4-bisphosphate binding; phosphoinositide binding; protein binding; SH3 domain binding; superoxide-generating NADPH oxidase activator activity; superoxide-generating NADPH oxidase activity
Biological Process: antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; cell redox homeostasis; cellular defense response; innate immune response; protein targeting to membrane; respiratory burst; superoxide metabolic process; superoxide release; vascular endothelial growth factor receptor signaling pathway
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I