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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
  • Gene Overview
    MyGene.info: NCF1
  • Alliance
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
  • Genetic Map
    Chromosome 5, 74.47 cM
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    NCF1, neutrophil cytosolic factor 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NCF1, neutrophil cytosolic factor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NCF1A, NOXO2, p47phox, SH3PXD1A
  • Links
    NCBI Gene ID: 653361
    neXtProt AC: NX_P14598
    UniProt: P14598

  • Chr Location
    7q11.23; chr7:74773962-74789376 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ncf1 mouse models

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 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
    186 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      63 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • InterPro Domains
      IPR015039 NADPH oxidase subunit p47Phox, C-terminal
      IPR001655 Neutrophil cytosol factor 1
      IPR032136 Neutrophil cytosol factor 1, C-terminal
      IPR035756 Neutrophil cytosol factor 1, first SH3 domain
      IPR034909 Neutrophil cytosol factor 1, PX domain
      IPR035757 Neutrophil cytosol factor 1, second SH3 domain
      IPR001683 Phox homologous domain
      IPR036871 PX domain superfamily
      IPR001452 SH3 domain
      IPR036028 SH3-like domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 50
      Genomic 12
      cDNA 35
      Primer pair 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12789, MGD-MRK-12792
    References
    more
    • Summaries
      All 263
      Developmental Gene Expression 5
      Diseases 5
      Gene Ontology 24
      Phenotypes 186
    • 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:256690 Loehr JA, et al., NADPH oxidase mediates microtubule alterations and diaphragm dysfunction in dystrophic mice. Elife. 2018 Jan 30;7

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    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/18/2018
    MGI 6.12
    The Jackson Laboratory