NCF1 (neutrophil cytosolic factor 1)

2007-12-01  

Identity

HGNC
NCF1
LOCATION
7q11.23
LOCUSID
653361
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
366265532023ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.2
372439462023The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.0
366265532023ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.2
372439462023The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.0
345564852022Human SLE variant NCF1-R90H promotes kidney damage and murine lupus through enhanced Tfh2 responses induced by defective efferocytosis of macrophages.9
351083702022Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.5
345564852022Human SLE variant NCF1-R90H promotes kidney damage and murine lupus through enhanced Tfh2 responses induced by defective efferocytosis of macrophages.9
351083702022Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.5
335965902021Neutrophil Cytosolic Factor-1 Genotyping in Acne Vulgaris.1
339039792021Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.3
347081242021NCF1/2/4 Are Prognostic Biomarkers Related to the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.10
335965902021Neutrophil Cytosolic Factor-1 Genotyping in Acne Vulgaris.1
339039792021Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.3
347081242021NCF1/2/4 Are Prognostic Biomarkers Related to the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.10
317047192020NCF1-339 polymorphism is associated with altered formation of neutrophil extracellular traps, high serum interferon activity and antiphospholipid syndrome in systemic lupus erythematosus.16

Citation

Dessen P

NCF1 (neutrophil cytosolic factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49878/gene-fusions-explorer/js/_common.js