Neutrophil cytosolic factor 1

Last updated
NCF1
Protein NCF1 PDB 1gd5.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NCF1 , NCF1A, NOXO2, SH3PXD1A, p47phox, Neutrophil cytosolic factor 1, CGD1
External IDs OMIM: 608512 MGI: 97283 HomoloGene: 30964 GeneCards: NCF1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
View/Edit Human View/Edit Mouse

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:

Related Research Articles

<span class="mw-page-title-main">Chronic granulomatous disease</span> Hereditary disease group

Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds used to kill certain ingested pathogens. This leads to the formation of granulomas in many organs. CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year.

NADPH oxidase is a membrane-bound enzyme complex that faces the extracellular space. It can be found in the plasma membrane as well as in the membranes of phagosomes used by neutrophil white blood cells to engulf microorganisms. Human isoforms of the catalytic component of the complex include NOX1, NOX2, NOX3, NOX4, NOX5, DUOX1, and DUOX2.

<span class="mw-page-title-main">NOX2</span> Protein-coding gene in the species Homo sapiens

NADPH oxidase 2 (Nox2), also known as cytochrome b(558) subunit beta or Cytochrome b-245 heavy chain, is a protein that in humans is encoded by the NOX2 gene. The protein is a superoxide generating enzyme which forms reactive oxygen species (ROS).

<span class="mw-page-title-main">NCF1C</span> Pseudogene in the species Homo sapiens

NCF1C is a human pseudogene related to NCF1, the latter being responsible for encoding the 47 kDA cytosolic subunit of NADPH oxidase. In chronic granulomatous disease, the functional NCF1 gene recombines with the two nearby pseudogenes and becomes inactivated.

<span class="mw-page-title-main">Neutrophil cytosolic factor 2</span> Protein-coding gene in the species Homo sapiens

Neutrophil cytosol factor 2 is a protein that in humans is encoded by the NCF2 gene.

<span class="mw-page-title-main">NOX1</span> Protein-coding gene in the species Homo sapiens

NADPH oxidase 1 is an enzyme that in humans is encoded by the NOX1 gene.

<span class="mw-page-title-main">NOX4</span> Protein-coding gene in the species Homo sapiens

NADPH oxidase 4 is an enzyme that in humans is encoded by the NOX4 gene, and is a member of the NOX family of NADPH oxidases.

<span class="mw-page-title-main">Cytochrome b-245, alpha polypeptide</span> Protein-coding gene in the species Homo sapiens

Cytochrome b-245 light chain is a protein that in humans is encoded by the CYBA gene involved in superoxide production and phagocytosis.

<span class="mw-page-title-main">Moesin</span> Protein-coding gene in the species Homo sapiens

Moesin is a protein that in humans is encoded by the MSN gene.

<span class="mw-page-title-main">RHO protein GDP dissociation inhibitor</span>

RHO protein GDP dissociation inhibitor of Rho proteins regulates GDP/GTP exchange. The protein plays an important role in the activation of the oxygen superoxide-generating NADPH oxidase of phagocytes. This process requires the interaction of membrane-associated cytochrome b559 with 3 cytosolic components: p47-phox, p67-phox and a heterodimer of the small G-protein p21Rac1 and rho GDI. The association of p21rac and GDI inhibits dissociation of GDP from p21rac, thereby maintaining it in an inactive form. The proteins are attached via a lipid tail on p21rac that binds to the hydrophobic region of GDI. Dissociation of these proteins might be mediated by the release of lipids from membranes through the action of phospholipases. The lipids may then compete with the lipid tail on p21rac for the hydrophobic pocket on GDI.

<span class="mw-page-title-main">RAC2</span> Protein-coding gene in the species Homo sapiens

Rac2 is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RAC2.

<span class="mw-page-title-main">Neutrophil cytosolic factor 4</span> Protein-coding gene in the species Homo sapiens

Neutrophil cytosol factor 4 is a protein that in humans is encoded by the NCF4 gene.

<span class="mw-page-title-main">Dual oxidase 2</span> Protein-coding gene in the species Homo sapiens

Dual oxidase 2, also known as DUOX2 or ThOX2, is an enzyme that in humans is encoded by the DUOX2 gene. Dual oxidase is an enzyme that was first identified in the mammalian thyroid gland. In humans, two isoforms are found; hDUOX1 and hDUOX2. The protein location is not exclusive to thyroid tissue; hDUOX1 is prominent in airway epithelial cells and hDUOX2 in the salivary glands and gastrointestinal tract.

<span class="mw-page-title-main">Dual oxidase 1</span> Protein-coding gene in the species Homo sapiens

Dual oxidase 1, also known as DUOX1 or ThOX1, is an enzyme which in humans is encoded by the DUOX1 gene. DUOX1 was first identified in the mammalian thyroid gland. In humans, two isoforms are found; hDUOX1 and hDUOX2. Human DUOX protein localization is not exclusive to thyroid tissue; hDUOX1 is prominent in airway epithelial cells and hDUOX2 in the salivary glands and gastrointestinal tract.

<span class="mw-page-title-main">TRAF4</span> Protein-coding gene in the species Homo sapiens

TNF receptor-associated factor 4 (TRAF4) also known as RING finger protein 83 (RNF83) is a protein that in humans is encoded by the TRAF4 gene.

<span class="mw-page-title-main">NOX5</span> Protein-coding gene in the species Homo sapiens

NADPH oxidase, EF-hand calcium binding domain 5, also known as NOX5, is a protein which in humans is encoded by the NOX5 gene.

<span class="mw-page-title-main">NOXO1</span> Protein-coding gene in the species Homo sapiens

NADPH oxidase organizer 1 is an enzyme that in humans is encoded by the NOXO1 gene.

<span class="mw-page-title-main">NOX3</span> Protein-coding gene in the species Homo sapiens

NADPH oxidase 3 is an enzyme that in humans is encoded by the NOX3 gene.

<span class="mw-page-title-main">NOXA1</span> Protein-coding gene in the species Homo sapiens

NADPH oxidase activator 1 is an enzyme that in humans is encoded by the NOXA1 gene.

Edgar Pick is an Israeli immunologist who is Professor Emeritus of Immunology in the Department of Clinical Microbiology and Immunology at the Faculty of Medicine at Tel Aviv University, Israel.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000158517 Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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