Ncf1
Gene Detail

Symbol Name ID

Ncf1 neutrophil cytosolic factor 1 MGI:97283

Synonyms

NADPH oxidase subunit (47kDa), Ncf-1, NOXO2, p47phox, p47

Feature Type

protein coding gene

Genetic Map

Chromosome 5

74.47 cM
Detailed Genetic Map ± 1 cM


Mapping data(14)

Sequence Map

Chr5:134220053-134229625 bp, - strand From VEGA annotation of GRCm38   9573 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:30964  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: neutrophil cytosol factor 1
Gene Tree: Ncf1

Human homologs

Human Homolog		NCF1, neutrophil cytosolic factor 1
NCBI Gene ID		653361
neXtProt AC		NX_P14598
Human Synonyms		NCF1A, NOXO2, p47phox, SH3PXD1A
Human Chr (Location)		7q11.23; chr7:74188309-74203659 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human NCF1

Alleles and phenotypes

All alleles(8) : Targeted(2) Gene trapped(5) Spontaneous(1)
 

Homozygous disruption of this gene causes severe spontaneous infections and granulomatous inflammation and may alter synaptic plasticity and memory, RAS activation, blood pressure control, airway smooth muscle function, neointima formation, vasoconstriction and the response to myocardial infarction.

 
Human Diseases Modeled Using Mouse Ncf1 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (46 annotations)

Process	apoptotic process, cell communication, ...
Component	cytoplasm, cytosol, ...
Function	phosphatidylinositol binding, protein binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (148)    Tissues (110)    Images (28)
Theiler Stages: 8, 10, 11, 12, 16, 17, 19, 22, 23, 24, 26

Assay Type	Results
Immunohistochemistry	8
RNA in situ	117
RT-PCR	23

cDNA source data(33)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(49) Genomic(12) cDNA(34) Primer pair(3)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000020372 (Evidence)
Ensembl Gene Model	ENSMUSG00000015950 (Evidence)
Entrez Gene	17969 (Evidence)
UniGene	425296
DFCI	TC1577333
DoTS	DT.101309928, DT.101392307, DT.110665206, DT.97351276
NIA Mouse Gene Index	U026797
Consensus CDS Project	CCDS39298.1
International Mouse Knockout Project Status	Ncf1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000020372	VEGA Gene Model | MGI Sequence Detail	9573	C57BL/6J
transcript	OTTMUST00000048314	VEGA | MGI Sequence Detail	2763	Not Applicable
polypeptide	OTTMUSP00000022113	VEGA | MGI Sequence Detail	404	Not Applicable

All sequences(54) RefSeq(2) UniProt(6)

Polymorphisms

All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs(50 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR015039	NADPH oxidase subunit p47Phox, C-terminal
InterPro	IPR001655	Neutrophil cytosol factor 1
InterPro	IPR001683	Phox homologous domain
InterPro	IPR001452	Src homology-3 domain
Protein Ontology	PR:000011030	neutrophil cytosol factor 1

References

(Earliest) J:10699 Francke U, et al., Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Am J Hum Genet. 1990 Sep;47(3):483-92
(Latest) J:195295 Grimm MJ, et al., Monocyte- and macrophage-targeted NADPH oxidase mediates antifungal host defense and regulation of acute inflammation in mice. J Immunol. 2013 Apr 15;190(8):4175-84
All references(190)

Other accession IDs

MGD-MRK-12789, MGD-MRK-12792