Description: Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA. RefSeq Summary (NM_000631): The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr22:37,257,030-37,274,059 Size: 17,030 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr22:37,257,214-37,273,865 Size: 16,652 Coding Exon Count: 10
ID:NCF4_HUMAN DESCRIPTION: RecName: Full=Neutrophil cytosol factor 4; Short=NCF-4; AltName: Full=Neutrophil NADPH oxidase factor 4; AltName: Full=SH3 and PX domain-containing protein 4; AltName: Full=p40-phox; Short=p40phox; FUNCTION: Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex. SUBUNIT: p40-PHOX associates primarily with p67-PHOX to form a complex with p47-PHOX. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expression is restricted to hematopoietic cells. DOMAIN: The OPR/PB1 domain mediates the association with NCF2/p67- PHOX. DISEASE: Defects in NCF4 are the cause of chronic granulomatous disease autosomal recessive cytochrome-b-positive type 3 (CGD3) [MIM:613960]. CGD3 is a disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. SIMILARITY: Contains 1 OPR domain. SIMILARITY: Contains 1 PX (phox homology) domain. SIMILARITY: Contains 1 SH3 domain.
Dermatitis, Atopic Lavinia Paternoster et al. Nature genetics 2012, Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis., Nature genetics.
[PubMed 22197932]
Inflammatory Bowel Diseases Richard H Duerr et al. Science (New York, N.Y.) 2006, A genome-wide association study identifies IL23R as an inflammatory bowel disease gene., Science (New York, N.Y.).
[PubMed 17068223]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15080
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.