NCF1 (neutrophil cytosolic factor 1)

2007-12-01  

Identity

HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
CGD1,NCF1A,NOXO2,SH3PXD1A,p47phox

Other Information

Locus ID:

NCBI: 653361
MIM: 608512
HGNC: 7660
Ensembl: ENSG00000158517

Variants:

dbSNP: 653361
ClinVar: 653361
TCGA: ENSG00000158517
COSMIC: NCF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158517ENST00000289473P14598
ENSG00000158517ENST00000433458C9J155
ENSG00000158517ENST00000442021H7C1S1
ENSG00000158517ENST00000464878A0A087X1W0

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Leukocyte transendothelial migrationKEGGko04670
Leukocyte transendothelial migrationKEGGhsa04670
Chemokine signaling pathwayKEGGko04062
Chemokine signaling pathwayKEGGhsa04062
Fc gamma R-mediated phagocytosisKEGGko04666
Fc gamma R-mediated phagocytosisKEGGhsa04666
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing-Cross presentationREACTOMER-HSA-1236975
Cross-presentation of particulate exogenous antigens (phagosomes)REACTOMER-HSA-1236973
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate NADPH OxidasesREACTOMER-HSA-5668599
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
174787312007Direct evidence of endothelial oxidative stress with aging in humans: relation to impaired endothelium-dependent dilation and upregulation of nuclear factor-kappaB.191
204950742010Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease.102
167789892006A specific p47phox -serine phosphorylated by convergent MAPKs mediates neutrophil NADPH oxidase priming at inflammatory sites.91
180284502008ASK1-p38 MAPK-p47phox activation is essential for inflammatory responses during tuberculosis via TLR2-ROS signalling.46
201675182010Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).40
199294422010NOX activity is increased in mild cognitive impairment.39
193667062009Phospholipase D-mediated activation of IQGAP1 through Rac1 regulates hyperoxia-induced p47phox translocation and reactive oxygen species generation in lung endothelial cells.35
217915982011Protein disulfide isomerase redox-dependent association with p47(phox): evidence for an organizer role in leukocyte NADPH oxidase activation.35
180708872008Phosphatidylinositol 3-kinase-dependent membrane recruitment of Rac-1 and p47phox is critical for alpha-platelet-derived growth factor receptor-induced production of reactive oxygen species.32
183909272008Priming of neutrophil oxidative burst in diabetes requires preassembly of the NADPH oxidase.32

Citation

Dessen P

NCF1 (neutrophil cytosolic factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49878/ncf1