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 have phosphatidylinositol binding activity and superoxide-generating NADPH oxidase activator activity. Involved in defense response to fungus and respiratory burst. Predicted to localize to cytoplasm. 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. Is expressed in cardiovascular system; extension; macrophage; and myeloid leukocyte. Orthologous to human 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