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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:134248907-134258479 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 74.47 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    395 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97283
 protein coding gene Chr5:134248907-134258479 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030154
 protein coding gene Chr5:138591392-138600656 (-)
A/J MGP_AJ_G0030122
 protein coding gene Chr5:132721826-132731287 (-)
AKR/J MGP_AKRJ_G0030055
 protein coding gene Chr5:137000588-137010570 (-)
BALB/cJ MGP_BALBcJ_G0030132
 protein coding gene Chr5:134052903-134064178 (-)
C3H/HeJ MGP_C3HHeJ_G0029848
 protein coding gene Chr5:137551372-137561659 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030585
 protein coding gene Chr5:143819530-143830192 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027809
 protein coding gene Chr5:126996064-127005645 (-)
CAST/EiJ MGP_CASTEiJ_G0029257
 protein coding gene Chr5:136998091-137008215 (-)
CBA/J MGP_CBAJ_G0029818
 protein coding gene Chr5:149413076-149425310 (-)
DBA/2J MGP_DBA2J_G0029969
 protein coding gene Chr5:132624969-132634486 (-)
FVB/NJ MGP_FVBNJ_G0029925
 protein coding gene Chr5:131753127-131763628 (-)
LP/J MGP_LPJ_G0030057
 protein coding gene Chr5:139075517-139085528 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029956
 protein coding gene Chr5:152528841-152539501 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030625
 protein coding gene Chr5:136742329-136751605 (-)
PWK/PhJ MGP_PWKPhJ_G0028972
 protein coding gene Chr5:131638913-131648870 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028807
 protein coding gene Chr5:134308090-134317440 (-)
WSB/EiJ MGP_WSBEiJ_G0029331
 protein coding gene Chr5:137476501-137487617 (-)



Homology
more
  • Human Ortholog
    NCF1, neutrophil cytosolic factor 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NCF1, neutrophil cytosolic factor 1
  • Synonyms
    CGD1, NCF-1, NCF1A, NCF-47K, NOXO2, p47-phox, p47phox, SH3PXD1A
  • Links
    NCBI Gene ID: 653361
    neXtProt AC: NX_P14598
    UniProt: P14598

  • Chr Location
    7q11.23; chr7:74774011-74789315 (+)  GRCh38
  • Human Ortholog
    NCF1B, neutrophil cytosolic factor 1B (pseudogene)
  • Synonyms
    NCF-1B, SH3PXD1B
  • Links
    NCBI Gene ID: 654816
    UniProt: A6NI72

  • Chr Location
    7q11.23; chr7:73220583-73236006 (+)  GRCh38
  • Human Ortholog
    NCF1C, neutrophil cytosolic factor 1C (pseudogene)
  • Synonyms
    SH3PXD1C
  • Links
    NCBI Gene ID: 654817
    UniProt: A8MVU1

  • Chr Location
    7q11.23; chr7:75156578-75172044 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ncf1 mouse models; 3 with human NCF1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
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
less
  • Phenotype Summary
    54 phenotypes from 5 alleles in 8 genetic backgrounds
    10 phenotypes from multigenic genotypes
    4 images
    254 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
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
neoplasm
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
less
  • All GO Annotations
    57
  • GO References
    23
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    863
  • Tissues
    119
  • cDNA Data
    34
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17969 NCBI Gene Model | MGI Sequence Detail 9573 C57BL/6J ±  kb
    transcript NM_001286037 RefSeq | MGI Sequence Detail 2764 ZRU/MplStud  
    polypeptide Q09014 UniProt | EBI | MGI Sequence Detail 390 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 51
      Genomic 12
      cDNA 35
      Primer pair 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12789, MGD-MRK-12792
    References
    more
    • Summaries
      All 338
      Developmental Gene Expression 7
      Diseases 5
      Gene Ontology 23
      Phenotypes 254
    • 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:353920 Liu S, et al., NADPH oxidase exerts a B cell-intrinsic contribution to lupus risk by modulating endosomal TLR signals. J Exp Med. 2024 Apr 1;221(4)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory