Protein-coding gene in the species Homo sapiens
Neutrophil cytosol factor 1 , also known as p47phox , is a protein that in humans is encoded by the NCF1 gene .[ 5]
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:
References
^ a b c GRCh38: Ensembl release 89: ENSG00000158517 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015950 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b "Entrez Gene: NCF1 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)" .
^ "Study of complex genetic region finds hidden role of NCF1 in multiple autoimmune diseases" . Medical Express . 2017-02-08. Retrieved 2017-02-09 .
^ Wientjes FB, Reeves EP, Soskic V, Furthmayr H, Segal AW (Nov 2001). "The NADPH oxidase components p47(phox) and p40(phox) bind to moesin through their PX domain". Biochem. Biophys. Res. Commun . 289 (2): 382–8. doi :10.1006/bbrc.2001.5982 . PMID 11716484 .
^ Lapouge K, Smith SJ, Groemping Y, Rittinger K (Mar 2002). "Architecture of the p40-p47-p67phox complex in the resting state of the NADPH oxidase. A central role for p67phox" . J. Biol. Chem . 277 (12): 10121–8. doi :10.1074/jbc.M112065200 . PMID 11796733 .
^ Grizot S, Grandvaux N, Fieschi F, Fauré J, Massenet C, Andrieu JP, Fuchs A, Vignais PV, Timmins PA, Dagher MC, Pebay-Peyroula E (Mar 2001). "Small angle neutron scattering and gel filtration analyses of neutrophil NADPH oxidase cytosolic factors highlight the role of the C-terminal end of p47phox in the association with p40phox". Biochemistry . 40 (10): 3127–33. doi :10.1021/bi0028439 . PMID 11258927 .
^ Sathyamoorthy M, de Mendez I, Adams AG, Leto TL (Apr 1997). "p40(phox) down-regulates NADPH oxidase activity through interactions with its SH3 domain" . J. Biol. Chem . 272 (14): 9141–6. doi :10.1074/jbc.272.14.9141 . PMID 9083043 .
^ Gu Y, Xu YC, Wu RF, Nwariaku FE, Souza RF, Flores SC, Terada LS (May 2003). "p47phox participates in activation of RelA in endothelial cells" . J. Biol. Chem . 278 (19): 17210–7. doi :10.1074/jbc.M210314200 . PMID 12618429 .
Further reading
Dorseuil O, Gacon G (1997). "[Signal transduction by Rac small G proteins in phagocytes]". C. R. Séances Soc. Biol. Fil . 191 (2): 237–46. PMID 9255350 .
Casimir CM, Bu-Ghanim HN, Rodaway AR, Bentley DL, Rowe P, Segal AW (1991). "Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat" . Proc. Natl. Acad. Sci. U.S.A . 88 (7): 2753–7. Bibcode :1991PNAS...88.2753C . doi :10.1073/pnas.88.7.2753 . PMC 51317 . PMID 2011585 .
Rodaway AR, Teahan CG, Casimir CM, Segal AW, Bentley DL (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. doi :10.1128/mcb.10.10.5388 . PMC 361238 . PMID 2398896 .
Lomax KJ, Leto TL, Nunoi H, Gallin JI, Malech HL (1989). "Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease" . Science . 245 (4916): 409–12. Bibcode :1989Sci...245..409L . doi :10.1126/science.2547247 . PMID 2547247 .
Volpp BD, Nauseef WM, Donelson JE, Moser DR, Clark RA (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. Bibcode :1989PNAS...86.7195V . doi :10.1073/pnas.86.18.7195 . PMC 298023 . PMID 2550933 .
Volpp BD, Nauseef WM, Clark RA (1988). "Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease". Science . 242 (4883): 1295–7. Bibcode :1988Sci...242.1295V . doi :10.1126/science.2848318 . PMID 2848318 .
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W (1994). "A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1" . Science . 266 (5182): 66–71. Bibcode :1994Sci...266...66M . doi :10.1126/science.7545954 . 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. Bibcode :1994PNAS...9110650L . doi :10.1073/pnas.91.22.10650 . PMC 45079 . 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. doi :10.1016/S0021-9258(17)31534-X . 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. doi :10.1016/0378-1119(94)90802-8 . 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. Bibcode :1996FEBSL.389..141F . doi :10.1016/0014-5793(96)00552-2 . PMID 8766817 . S2CID 19631155 .
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. doi :10.1074/jbc.272.14.9141 . PMID 9083043 .
Görlach A, Lee PL, Roesler J, Hopkins PJ, Christensen B, Green ED, Chanock SJ, Curnutte JT (1997). "A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease" . J. Clin. Invest . 100 (8): 1907–18. doi :10.1172/JCI119721 . PMC 508379 . PMID 9329953 .
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–56. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 .
Izuhara K, Arinobu Y, Sumimoto H, Nunoi H, Takeya R, Higuchi K, Takeshige K, Hamasaki N, Harada N (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. doi :10.1016/S0161-5890(98)00111-4 . PMID 10369419 .
Nakamura F, Huang L, Pestonjamasp K, Luna EJ, Furthmayr H (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. doi :10.1091/mbc.10.8.2669 . PMC 25498 . 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, Hopkins P, Lee P, Barrett DT, Christensen BL, Curnutte JT, Görlach A (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, Valtorta F, Bongiorno Borbone L, De Camilli P, Greengard P, Benfenati F (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 .
PDB gallery
1gd5 : SOLUTION STRUCTURE OF THE PX DOMAIN FROM HUMAN P47PHOX NADPH OXIDASE
1k4u : Solution structure of the C-terminal SH3 domain of p67phox complexed with the C-terminal tail region of p47phox
1kq6 : p47phox PX domain
1ng2 : Structure of autoinhibited p47phox
1o7k : HUMAN P47 PX DOMAIN COMPLEX WITH SULPHATES
1ov3 : Structure of the p22phox-p47phox complex
1uec : Crystal structure of autoinhibited form of tandem SH3 domain of p47phox
1wlp : Solution Structure Of The P22Phox-P47Phox Complex