NCF1
Neutrophil cytosol factor 1
Also known as: NCF1_HUMAN, NCF1A, NOXO2, p47phox, SH3PXD1A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P14598
- Gene
- NCF1
- Ensembl
- ENSG00000158517
- Chromosome
- 7
- Canonical length
- 390 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
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. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
390 residues, UniProt reviewed canonical sequence.
>P14598|NCF1
1 MGDTFIRHIA LLGFEKRFVP SQHYVYMFLV KWQDLSEKVV YRRFTEIYEF HKTLKEMFPI
61 EAGAINPENR IIPHLPAPKW FDGQRAAENR QGTLTEYCST LMSLPTKISR CPHLLDFFKV
121 RPDDLKLPTD NQTKKPETYL MPKDGKSTAT DITGPIILQT YRAIANYEKT SGSEMALSTG
181 DVVEVVEKSE SGWWFCQMKA KRGWIPASFL EPLDSPDETE DPEPNYAGEP YVAIKAYTAV
241 EGDEVSLLEG EAVEVIHKLL DGWWVIRKDD VTGYFPSMYL QKSGQDVSQA QRQIKRGAPP
301 RRSSIRNAHS IHQRSRKRLS QDAYRRNSVR FLQQRRRQAR PGPQSPGSPL EEERQTQRSK
361 PQPAVPPRPS ADLILNRCSE STKRKLASAVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NCF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 98 nTPM
Expression across tissuesHPA
Tissue
- spleen: 98 nTPM
- bone marrow: 84 nTPM
- lymph node: 58 nTPM
- appendix: 41 nTPM
- tonsil: 37 nTPM
- small intestine: 26 nTPM
Single-cell type
- neutrophils: 235 nCPM
- neutrophil progenitors: 69 nCPM
- pdcs: 27 nCPM
- b-cells: 26 nCPM
- microglia: 22 nCPM
- monocytes: 21 nCPM
Immune cell
- neutrophil: 2,261 nTPM
- eosinophil: 1,566 nTPM
- basophil: 1,230 nTPM
- classical monocyte: 721 nTPM
- total PBMC: 551 nTPM
- plasmacytoid DC: 305 nTPM
Brain region
- white matter: 24 nTPM
- medulla oblongata: 20 nTPM
- pons: 18 nTPM
- cerebellum: 17 nTPM
- midbrain: 16 nTPM
- hippocampal formation: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NCF1.
Disease | AllUniProt
Conditions NCF1 is implicated in, by any mechanism.
- Granulomatous disease, chronic, autosomal recessive, 1 (CGD1) MIM:233700
Disease | GeneticClinVar
16 pathogenic / likely-pathogenic of 82 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
- Granulomatous disease, chronic, X-linked
- Hypertrophic cardiomyopathy 4
- Chronic granulomatous disease
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Disease | ImmuneIEDB
Conditions an epitope on NCF1 was assayed in.
- rheumatoid arthritis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.13
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.01
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular defense response
- cellular response to glucose stimulus
- cellular response to testosterone stimulus
- epithelial cell proliferation
- hydrogen peroxide biosynthetic process
- inflammatory response
- innate immune response
- leukotriene metabolic process
- neutrophil-mediated killing of fungus
- neutrophil-mediated killing of gram-positive bacterium
- protein targeting to membrane
- regulation of respiratory burst involved in inflammatory response
- respiratory burst
- respiratory burst involved in defense response
- response to yeast
- superoxide anion generation
- superoxide metabolic process
Molecular functions
- electron transfer activity
- phosphatidylinositol binding
- phosphatidylinositol-3,4-bisphosphate binding
- SH3 domain binding
- superoxide-generating NAD(P)H oxidase activity
- superoxide-generating NADPH oxidase activator activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- Neutrophil cytosol factor 1
- Phox homology
- Neutrophil cytosol factor 1, C-terminal
- Neutrophil cytosol factor 1, PBR/AIR
- Neutrophil cytosol factor 1, PX domain
- Neutrophil cytosol factor 1, first SH3 domain
- Neutrophil cytosol factor 1, second SH3 domain
- SH3-like domain superfamily
- PX domain superfamily
- NADPH Oxidase and PX Domain-Containing
- SH3 domain
- PX domain
- NADPH oxidase subunit p47Phox, C terminal domain
- Neutrophil cytosol factor 1, PBR/AIR
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NCF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NCF1 as an antibody target. Whether an autoantibody or antibody against NCF1 could matter depends on whether native NCF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NCF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NCF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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