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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
Physical map
APOL3 22q13.1 apolipoprotein L, 3 APOL4 22q13.1 apolipoprotein L, 4 APOL2 22q13.1 apolipoprotein L, 2 APOL1 22q13.1 apolipoprotein L, 1 MYH9 22q13.1 myosin, heavy polypeptide 9, non-muscle LOC388898 22 LOC388898 TXN2 22q13.1 thioredoxin 2 FLJ23322 22q13.1 hypothetical protein FLJ23322 EIF3S7 22q13.1 eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa CACNG2 22q13.1 calcium channel, voltage-dependent, gamma subunit 2 RABL4 22q13.1 RAB, member of RAS oncogene family-like 4 PVALB 22q13.1 parvalbumin NCF4 22q13.1 neutrophil cytosolic factor 4, 40kDa CSF2RB 22q13.1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) CSF2RB2 22q13.1 colony stimulating factor 2 receptor, beta, 2 MGC35206 22q13.1 hypothetical protein MGC35206 TST 22q13.1 thiosulfate sulfurtransferase (rhodanese) MPST 22q13.1 mercaptopyruvate sulfurtransferase FLJ12242 22q13.1 hypothetical protein FLJ12242 TMPRSS6 22q13.1 transmembrane serine protease 6 IL2RB 22q13.1 interleukin 2 receptor, beta C1QTNF6 22q13.1 C1q and tumor necrosis factor related protein 6 SSTR3 22q13.1 somatostatin receptor 3 RAC2 22q13.1 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) PSCD4 22q13.1 pleckstrin homology, Sec7 and coiled-coil domains 4 KIAA1904 22q13.1 KIAA1904 protein MFNG 22q13.1 manic fringe homolog (Drosophila) CARD10 22q13 caspase recruitment domain family, member 10 CDC42EP1 22q13.1 CDC42 effector protein (Rho GTPase binding) 1 LGALS2 22q13.1 lectin, galactoside-binding, soluble, 2 (galectin 2) GGA1 22q13.31 golgi associated, gamma adaptin ear containing, ARF binding protein 1 SH3BP1 22q13.1 SH3-domain binding protein 1 PLP
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