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FLASH GENE
Symbol NCF4 contributors: SGE - updated : 14-02-2008
HGNC name neutrophil cytosolic factor 4, 40kDa
HGNC id 7662
Location 22q13.1      Physical location : 37.257.029 - 37.274.058
Synonym symbol(s) NCF, MGC3810, P40PHOX, SH3PXD4
EC.number 1.6.99.-
DNA
TYPE functioning gene
STRUCTURE 17.00 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 splicing 1386 39 339 - Wientjes
  • lacking an internal coding segment compared to variant 2, leading to a translation frameshift
  • isoform 1, has a distinct and shorter C-terminus as compared to isoform 2
  • 9 splicing 1646 38.8 348 - Wientjes
  • isoform 2 lacking the PC (Phox ans CDC24p) motif, which may be important for the interaction with NCF2
  • EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage myeloid cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one PX (phox homology) domain that can bind phospholipid products of the PI(3) kinase
  • one SH3 domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to chimpanzee NCF4 (88.9pc)
    homolog to dog NCF4 (90.0pc)
    homolog to murine Ncf4 (86.7pc)
    Homologene
    FAMILY
    CATEGORY enzyme , immunity/defense , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text translocated to the plasma membrane after activation
    basic FUNCTION
  • activating the NADPH oxidase during FcgammaIIA receptor-induced phagocytosis
  • reduction of oxygen to O-2 at the expense of NADPH, the O2-generated is the precursor of potent oxidants used to kill the invading microorganisms
  • negatively regulating the NADPH oxidase upon phosphorylation
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS inflammation
    text granulocytic differentiation
    PATHWAY
    metabolism
    signaling
    a component
  • component of NADPH oxidase system cypb245
  • forming a cytosolic precomplex with NCF1 and NCF2
  • regulatory component of an intracellular complex made of CYBB, NCF1, NCF2, CYBA in unstimulated endothelial cells
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with SPT1 for granulocytic differentiation
  • interacting with the actin cytoskeleton via the PX doamin, and stabilizing the NADPH oxidase
  • binding of the PtdIns(3)P poteintiates superoxide production upon agonist stimulation
  • cell & other
    REGULATION
    activated by SPI1(required for NCF4 gene transcription in myeloid cells)
    inhibited by phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    mutation of Arg-57 in the PX domain to Gln produced a dominant inhibitory effect on agonist-induced superoxide production and membrane translocation of P47Phox and P67Phox
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS