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Ncf1
Gene Detail
 Symbol
Name
ID
Ncf1
neutrophil cytosolic factor 1
MGI:97283
Synonyms NADPH oxidase subunit (47kDa), Ncf-1, NOXO2, p47phox, p47phox
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 western clawed frog; 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; chr7:74773962-74789376 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human NCF1
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(5) Spontaneous(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Ncf1 interacts with 200 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process apoptotic process, cell proliferation, ...
Component cytoplasm, cytosol, ...
Function lipid binding, phosphatidylinositol-3,4-bisphosphate 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 TypeResults
Immunohistochemistry 8
RNA in situ 117
RT-PCR 23
cDNA source data(33)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(49) Genomic(12) cDNA(34) Primer pair(3)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000020372 (Evidence)
Ensembl Gene ModelENSMUSG00000015950 (Evidence)
Entrez Gene17969 (Evidence)
UniGene425296
DFCITC1577333
DoTSDT.101309928, DT.101392307, DT.110665206, DT.97351276
NIA Mouse Gene IndexU026797
Consensus CDS ProjectCCDS39298.1, CCDS71674.1
International Mouse Knockout Project StatusNcf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020372 VEGA Gene Model | MGI Sequence Detail 9573 C57BL/6J ±  kb
transcript OTTMUST00000048314 VEGA | MGI Sequence Detail 2763 Not Applicable 
polypeptide OTTMUSP00000022113 VEGA | MGI Sequence Detail 404 Not Applicable 

For the selected sequences
All sequences(65) RefSeq(6) UniProt(7)
Polymorphisms All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs within 2kb(63 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:211577 Galan M, et al., Mechanism of endoplasmic reticulum stress-induced vascular endothelial dysfunction. Biochim Biophys Acta. 2014 Jun;1843(6):1063-75
All references(213)
Disease annotation references (5)
Other
accession IDs
MGD-MRK-12789, MGD-MRK-12792

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory