Gene
ncf1
- ID
- ZDB-GENE-031006-6
- Name
- neutrophil cytosolic factor 1
- Symbol
- ncf1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable superoxide-generating NADPH oxidase activator activity. Acts upstream of or within defense response to fungus and respiratory burst. Predicted to be located in cytoplasm. Predicted to be part of NADPH oxidase complex. Is expressed in cardiovascular system; extension; macrophage; and myeloid leukocyte. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome; autosomal recessive chronic granulomatous disease cytochrome b-positive type I; and chronic granulomatous disease. Orthologous to several human genes including NCF1 (neutrophil cytosolic factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb893 (3 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Brothers et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive chronic granulomatous disease 1 | Alliance | Chronic granulomatous disease 1, autosomal recessive | 233700 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001683 | Phox homology |
| Domain | IPR015039 | Neutrophil cytosol factor 1, C-terminal |
| Domain | IPR032136 | Neutrophil cytosol factor 1, PBR/AIR |
| Domain | IPR034909 | Neutrophil cytosol factor 1, PX domain |
| Domain | IPR035756 | Neutrophil cytosol factor 1, first SH3 domain |
| Domain | IPR035757 | Neutrophil cytosol factor 1, second SH3 domain |
| Family | IPR001655 | Neutrophil cytosol factor 1 |
| Family | IPR051228 | NADPH Oxidase and PX Domain-Containing |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR036871 | PX domain superfamily |
Domain Details Per Protein
| Protein | Length | NADPH Oxidase and PX Domain-Containing | Neutrophil cytosol factor 1 | Neutrophil cytosol factor 1, C-terminal | Neutrophil cytosol factor 1, first SH3 domain | Neutrophil cytosol factor 1, PBR/AIR | Neutrophil cytosol factor 1, PX domain | Neutrophil cytosol factor 1, second SH3 domain | Phox homology | PX domain superfamily | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q4Z8P3
|
410 |
Interactions and Pathways
No data available
Plasmids
No data available