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    NCF4 neutrophil cytosolic factor 4, 40kDa [ Homo sapiens (human) ]

    Gene ID: 4689, updated on 11-May-2013
    Official Symbol
    NCF4provided by HGNC
    Official Full Name
    neutrophil cytosolic factor 4, 40kDaprovided by HGNC
    Primary source
    HGNC:7662
    Locus tag
    CTA-833B7.1
    See related
    Ensembl:ENSG00000100365; HPRD:03289; MIM:601488; Vega:OTTHUMG00000150548
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NCF; P40PHOX; SH3PXD4
    Summary
    The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
    Location :
    22q13.1
    Sequence :
    Chromosome: 22; NC_000022.10 (37257030..37274059)
    See NCF4 in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene parvalbumin Neighboring gene FLJ90680 protein Neighboring gene colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) Neighboring gene colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) pseudogene 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Cutting edge: NADPH oxidase modulates MHC class II antigen presentation by B cells. Crotzer VL, et al. J Immunol, 2012 Oct 15. PMID 22984083.
    2. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Paternoster L, et al. Nat Genet, 2011 Dec 25. PMID 22197932.
    3. Clinical and genetic risk factors for perianal Crohn's disease in a population-based cohort. Eglinton TW, et al. Am J Gastroenterol, 2012 Apr. PMID 22158027.
    4. Cooperation of p40(phox) with p47(phox) for Nox2-based NADPH oxidase activation during Fcγ receptor (FcγR)-mediated phagocytosis: mechanism for acquisition of p40(phox) phosphatidylinositol 3-phosphate (PI(3)P) binding. Ueyama T, et al. J Biol Chem, 2011 Nov 25. PMID 21956105.
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.

    See all (71) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Constitutive and inducible intracellular production of reactive oxygen species (ROS) is higher in B cells expressing functional p40phox, supporting a direct role for p40phox in regulating B cell intracellular ROS generation.
      Title: Cutting edge: NADPH oxidase modulates MHC class II antigen presentation by B cells.
    2. Genome-wide association studies-reported associations between the NELL1, NCF4, and FAM92B genes and susceptibility to Crohn's disease could not be replicated in Canadian children and young adults.
      Title: NELL1, NCF4, and FAM92B genes are not major susceptibility genes for Crohn's disease in Canadian children and young adults.
    3. Younger age at diagnosis, complicated disease behavior, and ileal disease location are risk factors for perianal CD. First report of an association of the NCF4 gene with perianal disease.
      Title: Clinical and genetic risk factors for perianal Crohn's disease in a population-based cohort.
    4. cooperation of p40(phox) with p47(phox) for Nox2-based NADPH oxidase activation during Fcgamma receptor (FcgammaR)-mediated phagocytosis
      Title: Cooperation of p40(phox) with p47(phox) for Nox2-based NADPH oxidase activation during Fcγ receptor (FcγR)-mediated phagocytosis: mechanism for acquisition of p40(phox) phosphatidylinositol 3-phosphate (PI(3)P) binding.
    5. Results demonstrate that PBEF can prime for PMN respiratory burst activity by promoting p40 and p47 translocation to the membrane.
      Title: Pre-B cell colony-enhancing factor (PBEF/Nampt/visfatin) primes neutrophils for augmented respiratory burst activity through partial assembly of the NADPH oxidase.
    6. no association between SNP rs4821544 and the presence of granulomas in Crohn's disease
      Title: Granulomas in Crohn's disease: are newly discovered genetic variants involved?
    7. cytosolic localisation depends on direct interaction with F-actin
      Title: Subcellular localisation of the p40phox component of NADPH oxidase involves direct interactions between the Phox homology domain and F-actin.
    8. All mutations and some polymorphisms identified in the NCF4 gene in the autosomal forms of chronic granulomatous disease are listed. Review.
      Title: Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    10. p40(phox) functions primarily to regulate Fc gamma receptor-induced NADPH oxidase activity rather than assembly, and stimulates superoxide production via a phosphatidylinositol-3-phosphate signal that increases after phagosome internalization.
      Title: Fc gamma R-stimulated activation of the NADPH oxidase: phosphoinositide-binding protein p40phox regulates NADPH oxidase activity after enzyme assembly on the phagosome.
    Submit: New GeneRIF Correction See all (27)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III

    Summary from GeneReviews: Common Variable Immune Deficiency Overview Go to GeneReviews

    Disease Characteristics
    Common variable immune deficiency (CVID) is characterized by humoral immune deficiency with onset after age 24 months and usually in young adulthood, resulting in increased susceptibility to infections and diminished responses to protein and polysaccharide vaccines. The most common infections are sinopulmonary and include Streptococcus pneumonia, Hemophilis influenza, Klebsiella pneumonia, and sometimes mycoplasma infections. Individuals may experience meningitis or other systemic bacterial infections, recurrent eye or skin infections, or gastrointestinal symptoms related to compromised immune/gut homeostasis, including chronic diarrhea, malabsorption, or bloating. They may also have abnormal T-cell function and immune dysregulation, including lymphoid hyperplasia, gastrointestinal inflammation, autoimmune phenomena, and susceptibility to malignancy, especially lymphomas.
    Diagnosis Testing
    The diagnosis of CVID is primarily established by testing for low serum IgG concentration ranging from profoundly reduced (<100 mg/dL) to just below adult normal range (500-1200 mg/dL). Individuals often manifest a functional defect in IgG responses to immunization by Pneumovax((R)) and bacteriophage PhiX174. Other abnormal laboratory studies include reduced serum concentrations of other immunoglobulins, especially IgA or IgM, and reduced numbers of switched memory B-cells as assessed by peripheral B-cell immunophenotyping. Abnormal laboratory or imaging studies include abnormalities in T-cell memory subsets on T-cell immunophenotyping; in vitro proliferative responses of peripheral blood lymphocytes to a general mitogen, crosslinking of CD3, or activation with specific antigens; deficient cytokine production by peripheral blood lymphocytes; nodular lymphoid hyperplasia on x-ray, enteroscopy, or intestinal biopsies; and evidence of non-caseating granulomas on imaging or biopsy. Testing for loss of protein expression is clinically available for TACI-, CD19- and BAFFR-associated CVID. Molecular genetic testing for mutations in TNFRSF13B (TACI) (found in 10%-15% of individuals with CVID) and ICOS (found in </=1% of individuals with CVID) is clinically available.
    Genetic Counseling
    CVID can be inherited in an autosomal dominant or autosomal recessive manner. In families in which CVID is inherited in an autosomal dominant manner, the sibs of an affected individual have a 50% chance of inheriting the mutation assuming that one parent has a disease-causing mutation. In families in which CVID is inherited in an autosomal recessive manner, the parents of an affected individual are most like heterozygotes (usually asymptomatic) and each carries one mutant allele. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing and prenatal diagnosis for pregnancies at increased risk for TACI-associated CVID and ICOS-associated CVID are available on a clinical basis once the mutations have been identified in the proband.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    Q15080 P31146 CORO1A    HPRD  PubMed  
    Q15080 P13498 CYBA    HPRD  PubMed  
    Q15080 P04839 CYBB    HPRD  PubMed  
    Q15080 P26038 MSN    HPRD  PubMed  
    Q15080 P14598 NCF1    HPRD  PubMed  
    Q15080 P19878 NCF2    HPRD  PubMed  
    Q15080 Q05655 PRKCD    HPRD  PubMed  
    Q15080 P10599 TXN    HPRD  PubMed  
    Q15080 P12956 XRCC6    HPRD  PubMed  
    BioGRID:110769 BioGRID:110584 MSN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110769 BioGRID:575724 NCF1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:110769 BioGRID:110768 NCF2    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure; Co-fractionation; Reconstituted Complex; Two-hybrid 
    BioGRID:110769 BioGRID:111577 PRKDC    BioGRID  PubMed Biochemical Activity 
    BioGRID:110769 BioGRID:113146 TXN    BioGRID  PubMed Two-hybrid 
    BioGRID:110769 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110769 BioGRID:108822 XRCC6    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
      Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystem (from REACTOME)
      Cross-presentation of particulate exogenous antigens (phagosomes), organism-specific biosystemDendritic cells (DCs) take up and process exogenous particulate or cell-associated antigens such as microbes or tumor cells for MHC-I cross-presentation. Particulate antigens have been reported to be...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystem (from REACTOME)
      Latent infection of Homo sapiens with Mycobacterium tuberculosis, organism-specific biosystemInfection by Mycobacterium tuberculosis (Mtb) is soon countered by the host's immune system, the organism is however almost never eradicated; ten per cent of infections will develop into "open tuberc...
    • Leishmaniasis, organism-specific biosystem (from KEGG)
      Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • Leishmaniasis, conserved biosystem (from KEGG)
      Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Phagosomal maturation (early endosomal stage), organism-specific biosystem (from REACTOME)
      Phagosomal maturation (early endosomal stage), organism-specific biosystemAlveolar macrophages normally develop their phagosome along the endolysosomal pathway. However, after having internalized Mtb, this development is arrested at an early stage and only includes acidifi...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC3810

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein dimerization activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    antigen processing and presentation of exogenous peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
    		  
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
    Traceable Author Statement
    more info
    		  
    antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
    		  
    cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    interaction with host TAS
    Traceable Author Statement
    more info
    		  
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    phagosome maturation TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    NADPH oxidase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    phagolysosome TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    neutrophil cytosol factor 4
    Names
    neutrophil cytosol factor 4
    NCF-4
    p40-phox
    neutrophil NADPH oxidase factor 4
    SH3 and PX domain-containing protein 4

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023400.1 RefSeqGene

      Range
      5001..22030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_159

    mRNA and Protein(s)

    1. NM_000631.4 → NP_000622.2  neutrophil cytosol factor 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an internal coding segment compared to variant 2, which leads to a translation frameshift. The resulting isoform (1) has a distinct and shorter C-terminus, as compared to isoform 2.
      Source sequence(s)
      BC002798, BU076892, BX355636
      Consensus CDS
      CCDS13934.1
      UniProtKB/Swiss-Prot
      Q15080
      Related
      ENSP00000248899, OTTHUMP00000197809, ENST00000248899, OTTHUMT00000318863
      Conserved Domains (3) summary
      cd06399
      Location:238 – 329
      Blast Score: 439
      PB1_P40; The PB1 domain is essential part of the p40 adaptor protein which plays an important role in activating phagocyte NADPH oxidase during phagocytosis. The PB1 domain is a modular domain mediating specific protein-protein interaction which play a role in ...
      cd06882
      Location:19 – 141
      Blast Score: 583
      PX_p40phox; The phosphoinositide binding Phox Homology domain of the p40phox subunit of NADPH oxidase
      cd11869
      Location:174 – 227
      Blast Score: 280
      SH3_p40phox; Src Homology 3 domain of the p40phox subunit of NADPH oxidase

    2. NM_013416.3 → NP_038202.2  neutrophil cytosol factor 4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2). This isoform (2) lacks the PC (Phox and Cdc24p) motif, which may be important for the interaction with NCF2.
      Source sequence(s)
      AK290924, BC002798, BU076892
      Consensus CDS
      CCDS13935.1
      UniProtKB/Swiss-Prot
      Q15080
      Related
      ENSP00000380334, OTTHUMP00000197810, ENST00000397147, OTTHUMT00000318864
      Conserved Domains (3) summary
      cd06882
      Location:19 – 141
      Blast Score: 602
      PX_p40phox; The phosphoinositide binding Phox Homology domain of the p40phox subunit of NADPH oxidase
      cl02720
      Location:238 – 258
      Blast Score: 91
      PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...
      cd11869
      Location:174 – 227
      Blast Score: 284
      SH3_p40phox; Src Homology 3 domain of the p40phox subunit of NADPH oxidase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p10 Primary Assembly

      Range
      37257030..37274059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      20219193..20235709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018933.1 Alternate CHM1_1.0

      Range
      21174043..21191067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01055450.1 (231255..247771) None
    genomic AL008637.1 (12358..29387) None
    genomic AMYH01012753.1 (346178..363202) None
    genomic CH471095.1 EAW60122.1
      EAW60123.1
      EAW60124.1
    genomic DQ314880.1 ABC40739.1
    genomic U50720.1 AAB39970.1
    genomic U50721.1 AAB39970.1
    genomic U50722.1 AAB39970.1
    genomic U50723.1 AAB39970.1
    genomic U50724.1 AAB39970.1
    genomic U50725.1 AAB39970.1
    genomic U50726.1 AAB39970.1
    genomic U50727.1 AAB39970.1
    genomic U50728.1 AAB39970.1
    genomic U50729.1 AAB39970.1
    mRNA AB025219.1 BAA89791.1
    mRNA AB025220.1 BAA89792.1
    mRNA AK223324.1 BAD97044.1
    mRNA AK290924.1 BAF83613.1
    mRNA BC002798.1 AAH02798.1
    mRNA BT007346.1 AAP36010.1
    mRNA BU076892.1 None
    mRNA BX355636.2 None
    mRNA CR456528.1 CAG30414.1
    mRNA CR542078.1 CAG46875.1
    mRNA X77094.1 CAA54372.1
    other-genetic CU013128.1 CAK54559.1
    other-genetic CU013416.1 CAK54858.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15080.2 GenPept UniProtKB/Swiss-Prot:Q15080

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
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        Citations in PubMed identified from shared sequence and PMC links.
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