Neutrophil cytosolic factor 1

Neutrophil cytosol factor 1, also known as p47phox, is a protein that in humans is encoded by the NCF1 gene.^[5]

NCF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1GD5, 1K4U, 1KQ6, 1NG2, 1O7K, 1OV3, 1UEC, 1W70, 1WLP
Identifiers
Aliases	NCF1, NCF1A, NOXO2, SH3PXD1A, p47phox, Neutrophil cytosolic factor 1, CGD1
External IDs	OMIM: 608512; MGI: 97283; HomoloGene: 30964; GeneCards: NCF1; OMA:NCF1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 74,774,011 bp[1] End 74,789,315 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 74.47 cM Start 134,248,907 bp[2] End 134,258,479 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte blood monocyte bone marrow cells spleen appendix lymph node upper lobe of left lung right lung mucosa of transverse colon Top expressed in granulocyte stroma of bone marrow mesenteric lymph nodes tibiofemoral joint blood spleen calvaria transitional epithelium of urinary bladder left lung lobe right lung lobe More reference expression data BioGPS n/a
Gene ontology Molecular function superoxide-generating NAD(P)H oxidase activity SH3 domain binding phosphatidylinositol-3,4-bisphosphate binding protein binding phosphatidylinositol binding electron transfer activity lipid binding superoxide-generating NADPH oxidase activator activity Cellular component cytoplasm cytosol membrane phagolysosome extrinsic component of membrane dendrite NADPH oxidase complex Golgi apparatus rough endoplasmic reticulum soma podosome plasma membrane Biological process protein targeting to membrane superoxide anion generation cellular defense response vascular endothelial growth factor receptor signaling pathway innate immune response superoxide metabolic process apoptotic process respiratory burst podosome assembly positive regulation of phosphatidylinositol 3-kinase signaling cellular response to reactive oxygen species positive regulation of epidermal growth factor-activated receptor activity positive regulation of transcription, DNA-templated positive regulation of JNK cascade cellular response to cadmium ion positive regulation of p38MAPK cascade electron transport chain antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent cellular response to oxidative stress cell redox homeostasis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 653361 17969 Ensembl ENSG00000158517 ENSMUSG00000015950 UniProt P14598 Q09014 RefSeq (mRNA) NM_000265 NM_001286037 NM_010876 RefSeq (protein) NP_000256 NP_001272966 NP_035006 Location (UCSC) Chr 7: 74.77 – 74.79 Mb Chr 5: 134.25 – 134.26 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[5]

Genetic variability in the NCF1 gene has been found to be related to a higher chance of getting autoimmune diseases such as Sjögren's syndrome, rheumatoid arthritis and lupus erythematosus.^[6]

p47 is vital to the activation of NADPH oxidase. P47 becomes heavily phosphorylated

Interactions

Neutrophil cytosolic factor 1 has been shown to interact with:

• Moesin,^[7]
• Neutrophil cytosolic factor 4,^[8][9][10] and
• RELA.^[11]