NCF1

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Neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)
PDB rendering based on 1gd5.
Available structures: 1gd5, 1k4u, 1kq6, 1ng2, 1o7k, 1ov3, 1uec, 1wlp
Identifiers
Symbol(s) NCF1; NCF1A; NOXO2; SH3PXD1A; p47phox
External IDs OMIM: 608512 MGI: 97283 HomoloGene: 30964
Orthologs
Human Mouse
Entrez 653361 17969
Ensembl n/a ENSMUSG00000015950
Uniprot n/a Q3U9Y3
Refseq XM_001127247 (mRNA)
XP_001127247 (protein)		 NM_010876 (mRNA)
NP_035006 (protein)
Location n/a Chr 5: 134.51 - 134.51 Mb
Pubmed search [1] [2]

Neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1), also known as NCF1, is a human gene.

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.[1]

[edit] References

  1. ^ Entrez Gene: NCF1 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1).

[edit] Further reading

  • Dorseuil O, Gacon G (1997). "[Signal transduction by Rac small G proteins in phagocytes]". C. R. Seances Soc. Biol. Fil. 191 (2): 237–46. PMID 9255350. 
  • Casimir CM, Bu-Ghanim HN, Rodaway AR, et al. (1991). "Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.". Proc. Natl. Acad. Sci. U.S.A. 88 (7): 2753–7. PMID 2011585. 
  • Rodaway AR, Teahan CG, Casimir CM, et al. (1990). "Characterization of the 47-kilodalton autosomal chronic granulomatous disease protein: tissue-specific expression and transcriptional control by retinoic acid.". Mol. Cell. Biol. 10 (10): 5388–96. PMID 2398896. 
  • Lomax KJ, Leto TL, Nunoi H, et al. (1989). "Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease.". Science 245 (4916): 409–12. PMID 2547247. 
  • Volpp BD, Nauseef WM, Donelson JE, et al. (1989). "Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase.". Proc. Natl. Acad. Sci. U.S.A. 86 (18): 7195–9. PMID 2550933. 
  • Volpp BD, Nauseef WM, Clark RA (1989). "Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease.". Science 242 (4883): 1295–7. PMID 2848318. 
  • Miki Y, Swensen J, Shattuck-Eidens D, et al. (1994). "A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.". Science 266 (5182): 66–71. PMID 7545954. 
  • Leto TL, Adams AG, de Mendez I (1994). "Assembly of the phagocyte NADPH oxidase: binding of Src homology 3 domains to proline-rich targets.". Proc. Natl. Acad. Sci. U.S.A. 91 (22): 10650–4. PMID 7938008. 
  • el Benna J, Faust LP, Babior BM (1994). "The phosphorylation of the respiratory burst oxidase component p47phox during neutrophil activation. Phosphorylation of sites recognized by protein kinase C and by proline-directed kinases.". J. Biol. Chem. 269 (38): 23431–6. PMID 8089108. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Finan PM, Hall A, Kellie S (1996). "Sam68 from an immortalised B-cell line associates with a subset of SH3 domains.". FEBS Lett. 389 (2): 141–4. PMID 8766817. 
  • Sathyamoorthy M, de Mendez I, Adams AG, Leto TL (1997). "p40(phox) down-regulates NADPH oxidase activity through interactions with its SH3 domain.". J. Biol. Chem. 272 (14): 9141–6. PMID 9083043. 
  • Görlach A, Lee PL, Roesler J, et al. (1997). "A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.". J. Clin. Invest. 100 (8): 1907–18. PMID 9329953. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Izuhara K, Arinobu Y, Sumimoto H, et al. (1999). "Association of the interleukin-4 receptor alpha chain with p47phox, an activator of the phagocyte NADPH oxidase in B cells.". Mol. Immunol. 36 (1): 45–52. PMID 10369419. 
  • Nakamura F, Huang L, Pestonjamasp K, et al. (1999). "Regulation of F-actin binding to platelet moesin in vitro by both phosphorylation of threonine 558 and polyphosphatidylinositides.". Mol. Biol. Cell 10 (8): 2669–85. PMID 10436021. 
  • Rinckel LA, Faris SL, Hitt ND, Kleinberg ME (1999). "Rac1 disrupts p67phox/p40phox binding: a novel role for Rac in NADPH oxidase activation.". Biochem. Biophys. Res. Commun. 263 (1): 118–22. doi:10.1006/bbrc.1999.1334. PMID 10486263. 
  • Chanock SJ, Roesler J, Zhan S, et al. (2000). "Genomic structure of the human p47-phox (NCF1) gene.". Blood Cells Mol. Dis. 26 (1): 37–46. doi:10.1006/bcmd.2000.0274. PMID 10772875. 
  • Onofri F, Giovedi S, Kao HT, et al. (2000). "Specificity of the binding of synapsin I to Src homology 3 domains.". J. Biol. Chem. 275 (38): 29857–67. doi:10.1074/jbc.M006018200. PMID 10899172. 
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