NCF1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NCF1 |
| Official Name | neutrophil cytosolic factor 1 [Source:HGNC Symbol;Acc:HGNC:7660] |
| Ensembl ID | ENSG00000158517 |
| Bio databases IDs | |
| Aliases | neutrophil cytosolic factor 1, NADPH oxidase organizer 2, chronic granulomatous disease, autosomal 1 |
| Synonyms | CGD1, LOC100912379, LOC652699, NCF1A, NCF-47K, neutrophil cytosolic factor 1, NOXO2, P47 NADPH subunit, p47-phox, SH3PXD1A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NCF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- electron carrier
- SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1
- superoxide-generating NADPH oxidase activator
- autoinhibitory protein domain
- enzyme
- protein binding
- proline rich domain
- SH3-domain binding
- NADPH oxidase subunit p47Phox, C terminal domain
- phosphatidylinositol binding
- superoxide-generating NADPH oxidase
- Src Homology 3 domain superfamily
- arginine-lysine rich domain
- arginine rich motif
- binding protein
- The Phox Homology domain, a phosphoinositide binding module
- PX domain
Pathways
Biological processes and signaling networks where the NCF1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Apelin Adipocyte Signaling Pathway
- Fcγ Receptor-mediated Phagocytosis in Macrophages and Monocytes
- fMLP Signaling in Neutrophils
- HIF1α Signaling
- IL-8 Signaling
- Leukocyte Extravasation Signaling
- Neuroinflammation Signaling Pathway
- Phagosome Maturation
- Production of Nitric Oxide and Reactive Oxygen Species in Macrophages
- Rac Signaling
- Signaling by Rho Family GTPases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infection
- hypertension
- insulin-dependent diabetes mellitus
- acute lung injury
- cytochrome b-positive autosomal recessive chronic granulomatous disease type 1
- interstitial fibrosis
- acute inflammation
- primary Sjögren syndrome
- psoriasis
- streptozotocin-induced diabetes
role in cell
- migration
- expression in
- cell death
- accumulation in
- apoptosis
- proliferation
- activation in
- phosphorylation in
- response
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- actin polymerization initiation node
- perinuclear region
- cellular membrane
- Plasma Membrane
- phagolysosome
- actin bundles
- cytosol
- cytoplasmic face of plasma membrane
- synapse
- transverse tubules
- cellular protrusions
- membrane processes
- cell membrane leading edge
- perikaryon
- dendrites
- microspikes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NCF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of respiratory burst involved in inflammatory response
- positive regulation of epidermal growth factor-activated receptor activity
- respiratory burst
- superoxide anion generation
- protein targeting to membrane
- positive regulation of p38MAPK cascade
- cellular response to testosterone stimulus
- cellular defense response
- superoxide metabolic process
- cellular response to glucose stimulus
- positive regulation of transcription, DNA-dependent
- positive regulation of JNK cascade
- innate immune response
- cellular response to cadmium ion
- cellular response to reactive oxygen species
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- dendrite
- NADPH oxidase complex
- phagolysosome
- cytoplasm
- membrane
- cytosol
- neuronal cell body
- plasma membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- electron carrier activity
- superoxide-generating NADPH oxidase activity
- phosphatidylinositol binding
- superoxide-generating NADPH oxidase activator activity
- SH3 domain binding
- phosphatidylinositol-3,4-bisphosphate binding