Gene

ncf1

ID
ZDB-GENE-031006-6
Name
neutrophil cytosolic factor 1
Symbol
ncf1 Nomenclature History
Previous Names
  • cb893 (1)
  • p47phox (1)
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 part of NADPH oxidase complex. Predicted to be active in cytoplasm. 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 human NCF1 (neutrophil cytosolic factor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Brothers et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ncf1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive chronic granulomatous disease cytochrome b-positive type I Alliance Chronic granulomatous disease 1, autosomal recessive 233700
Associated With ncf1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001452 SH3 domain
Domain IPR001683 Phox homology
Domain IPR015039 NADPH oxidase subunit p47Phox, C-terminal
Domain IPR032136 Neutrophil cytosol factor 1, C-terminal
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
Homologous_superfamily IPR036028 SH3-like domain superfamily
Homologous_superfamily IPR036871 PX domain superfamily
Domain Details Per Protein
Protein Length NADPH oxidase subunit p47Phox, C-terminal Neutrophil cytosol factor 1 Neutrophil cytosol factor 1, C-terminal Neutrophil cytosol factor 1, first SH3 domain 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:A2BFP2 410
UniProtKB:Q4Z8P3 410
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations