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FLASH GENE
Symbol NCF1 contributors: npt/mct - updated : 04-11-2016
HGNC name neutrophil cytosolic factor 1
HGNC id 7660
Corresponding disease
NCF1D granulomatous disease, chronic, cytochrome b-positive, type I
Location 7q11.23      Physical location : 74.188.308 - 74.203.658
Synonym name
  • p47(phox) subunit of the NADPH oxidase
  • NADPH oxidase organizer 2
  • 47 kDa autosomal chronic granulomatous disease protein
  • Nox-organizing protein 2
  • neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1)
    • Synonym symbol(s) NCF1A, NOXO2, p47phox, SH3PXD1A, NCF-47K, FLJ79451
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text reside in duplicated segment of WS region
    STRUCTURE 15.41 kb     11 Exon(s)    2 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   ALU
    MAPPING cloned Y linked N status confirmed
    regionally located in the telomeric region flanking the WBS1 deletion
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1409 44.5 390 - 2000 10772875
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two SH3 domains containing cytosolic component of the NADPH oxidase, 47kDa
  • a single copy of the PX (PHOX) domain
  • C-terminal tail is critical for stabilizing its autoinhibited structure
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , immunity/defense
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text translocated to the plasma membrane after activation
    basic FUNCTION
  • p47-phox (NCF1), oxygen dependent mechanism of phagocytosis
  • reduction of oxygen to O-2 at the expense of NADPH, the O2-generated is the precursor of potent oxidant used to kill the invading microorganisms (electron transfer from NADPH to molecular oxygen)
  • mediating formation of reactive oxygen intermediates (ROI) which play an important role in host defense and autoimmunity (Greve 2008)
  • novel role of NCF1 subunit beyond and independent of nicotinamide adenine dinucleotide phosphate oxidase activity as a regulator of cortactin and adaptive cytoskeletal remodeling, leading to a paradoxically enhanced susceptibility to biomechanical stress and heart failure
  • NCF1 and RAC2 accumulate only transiently at the phagosome at the onset of NADPH activity and detach from the phagosome before the end of ROS production
  • is a key regulatory subunit of NADPH oxidase
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component
  • component of NADPH oxidase system cypb245
  • forming a cytosolic precomplex with NCF2 and NCF4
  • component of an intracellular complex made of CYBB, CYBA, NCF2, NCF4 in unstimulated endothelial cells
  • component of the leukocyte NADPH oxidase complex mediating formation of reactive oxygen intermediates (ROI)(Greve 2008)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding by its SH3 domain to both CYBA and NCF2
  • is essential for direct regulatory T cell mediated suppression of CD4+ effector T cells
  • NMRAL1 regulates NCF1 through inhibition of NFKB activity
  • CYBB activation requires membrane translocation of the NCF1 subunit and is linked to heart failure
  • CYBB, modulated at least in part by NCF1, mediates early stage compensatory vascular collateral development via a process dependent upon peroxide generation
  • ANGPT1 requires oxidant signaling through NCF1 to promote endothelial barrier defense
  • TLR8, is involved in priming of human neutrophil ROS production by inducing the phosphorylation of NCF1 and MAPK14 and PIN1 is also involved in this process
  • NCF1 is the key regulatory component of the phagocytic NADPH oxidase 2 (CYBB) complex
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NCF1D
    related resource NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox
    Susceptibility to rheumatoid arthritis
    Variant & Polymorphism other
  • copy number variation of the gene NCF1 is associated with rheumatoid arthritis
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • female mice lacking Ncf1 have altered adipose tissue gene expression and are protected against high fat-induced obesity