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Ncf1 Gene Detail
Summary
  • Symbol
    Ncf1
  • Name
    neutrophil cytosolic factor 1
  • Synonyms
    NADPH oxidase subunit (47kDa), Ncf-1, NOXO2, p47phox, p47phox
  • Feature Type
    protein coding gene
  • IDs
    MGI:97283
    NCBI Gene: 17969
Location & Maps
more
  • Sequence Map
    Chr5:134220053-134229625 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9573 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NCF1, neutrophil cytosolic factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NCF1, neutrophil cytosolic factor 1
    Orthology source: HomoloGene
  • Synonyms
    NCF1A, NOXO2, p47phox, SH3PXD1A
  • Links
    NCBI Gene ID: 653361
    neXtProt AC: NX_P14598

  • Chr Location
    7q11.23; chr7:74773962-74789376 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ncf1 mouse models; 1 with human NCF1 associations

Human Disease Mouse Models
       Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I   OMIM: 233700 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 3 alleles in 6 genetic backgrounds
    10 phenotypes from multigenic genotypes
    4 images
    163 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Gene trapped
    5
  • Spontaneous
    1
  • Targeted
    2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    63 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000011030 neutrophil cytosol factor 1
  • InterPro Domains
    IPR015039 NADPH oxidase subunit p47Phox, C-terminal
    IPR001655 Neutrophil cytosol factor 1
    IPR032136 Neutrophil cytosol factor 1, C-terminal
    IPR001683 Phox homologous domain
    IPR001452 SH3 domain
Molecular
Reagents
less
  • All nucleic 49
    Genomic 12
    cDNA 34
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-12789, MGD-MRK-12792
References
more
  • Summaries
    All 221
    Developmental Gene Expression 5
    Diseases 6
    Gene Ontology 22
    Phenotypes 163
  • 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:223984 Dattaroy D, et al., Micro-RNA 21 inhibition of SMAD7 enhances fibrogenesis via leptin-mediated NADPH oxidase in experimental and human nonalcoholic steatohepatitis. Am J Physiol Gastrointest Liver Physiol. 2015 Feb 15;308(4):G298-312

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory