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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNCF1, NCF1A, NOXO2, SH3PXD1A, p47phox, Neutrophil cytosolic factor 1
External IDsOMIM: 608512 MGI: 97283 HomoloGene: 30964 GeneCards: NCF1
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q11.23Start74,773,962 bp[1]
End74,789,376 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 5: 134.22 – 134.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Interactions

Neutrophil cytosolic factor 1 has been shown to interact with:

References

  1. GRCh38: Ensembl release 89: ENSG00000158517 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000015950 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: NCF1 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)".
  6. "Study of complex genetic region finds hidden role of NCF1 in multiple autoimmune diseases". Medical Express. 2017-02-08. Retrieved 2017-02-09.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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


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