NCF1

Chr 7q11.23

neutrophil cytosolic factor 1

Aliases:: p47phox, NOXO2, NCF1A, SH3PXD1A
MANE:: ENST00000289473.11

OMIM: 608512 ↗NCBI: 653361 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NCF1 · P14598

v62025-08-01

Predicted Aligned Error matrix for NCF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

390 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)29%
Low(50–70)10%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Gastrointestinal epithelial barrier disorders
BIALLELIC, autosomal or pseudoautosomal
Infantile enterocolitis & monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

chronic granulomatous disease
0.65
atrial fibrillation
0.38
neurodegenerative disease
0.36
Rare familial disorder with hypertrophic cardiomyopathy
0.35
hypertrophic cardiomyopathy 4
0.34
Increased blood pressure
0.33
hypertensive disorder
0.32
cardiovascular disorder
0.28
Abnormality of the skeletal system
0.28
type 2 diabetes mellitus
0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neutrophil cytosol factor 1

Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:2547247, PubMed:2550933, PubMed:38355798). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (PubMed:38355798). Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane (PubMed:38355798). This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox (PubMed:12732142, PubMed:19801500)