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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
    Physical map
    STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389522 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein WBSCR16 7q11.23 Williams-Beuren syndrome chromosome region 16 LOC389524 7 similar to transcription factor GTF2IRD2 NCF1 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1) LOC392058 7 similar to opposite strand transcription unit to Stag3; Gats protein PMS2L2 7q11-q22 postmeiotic segregation increased 2-like 2 LOC222190 7q11.23 hypothetical gene supported by AK024602 DKFZP434A0131 7q11.23-q21.1 DKFZp434A0131 protein TRIM50B 7q11.23 tripartite motif-containing 50B WBSCR20B 7q11.23 tripartite motif-containing 50B LOC340318 7q11.23 hypothetical protein LOC340318 PMS2L9 7q11.23 postmeiotic segregation increased 2-like 9 HIP1 7q11.23 huntingtin interacting protein 1 CCL26 7q11.23 chemokine (C-C motif) ligand 26 CCL24 7q11.23 chemokine (C-C motif) ligand 24 LOC392059 7 similar to ALY NPD007 7q11.23 NPD007 protein POR 7q11.2 P450 (cytochrome) oxidoreductase TMPIT 7q11.23 transmembrane protein induced by tumor necrosis factor alpha MK-STYX 7q11.23 map kinase phosphatase-like protein MK-STYX MDH2 7cen-q22 malate dehydrogenase 2, NAD (mitochondrial)
    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