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    CYBB cytochrome b-245, beta polypeptide [ Homo sapiens ]

    Gene ID: 1536, updated on 13-May-2012
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    Summary

    Official Symbol
    CYBBprovided by HGNC
    Official Full Name
    cytochrome b-245, beta polypeptideprovided by HGNC
    Primary source
    HGNC:2578
    See related
    Ensembl:ENSG00000165168; HPRD:02382; MIM:300481; Vega:OTTHUMG00000033175
    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
    CGD; NOX2; AMCBX2; GP91-1; GP91PHOX; p91-PHOX; GP91-PHOX
    Summary
    Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    Xp21.1
    Sequence :
    Chromosome: X; NC_000023.10 (37639270..37672714)
    See CYBB in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene LanC lantibiotic synthetase component C-like 3 (bacterial) Neighboring gene X-linked Kx blood group (McLeod syndrome) Neighboring gene dynein, light chain, Tctex-type 3 Neighboring gene sterol-C4-methyl oxidase pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Constitutive NADPH oxidase 4 activity resides in the composition of the B-loop and the penultimate C terminus. von Löhneysen K, et al. J Biol Chem, 2012 Mar 16. PMID 22277655.
    2. A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa. Naidoo R, et al. S Afr Med J, 2011 Sep 27. PMID 22272860.
    3. 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.
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    5. Impaired OXPHOS complex III in breast cancer. Owens KM, et al. PLoS One, 2011. PMID 21901141.

    See all (151) citations in PubMed

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

    1. Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.
      Title: Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.
    2. Glucan increases IL-12 production through NADPH oxidase-unrelated mechanisms.
      Title: Prostate carcinoma cells LNCaP and glucan cooperate in induction of cytokine synthesis by dendritic cells: effect on natural killer cells and CD4+ lymphocytes activation.
    3. Reduced matrigel invasion was mediated by reduced ROS levels coinciding with decreased expression of NADPH oxidase 2, 3, 4 and 5 involved in ROS production.
      Title: Impaired OXPHOS complex III in breast cancer.
    4. Child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. X-linked CGD with novel mutation in exon 10 of CYBB gene - first South African report.
      Title: A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa.
    5. CGD patients with mutations that alter the gp91(phox) protein in regions involved in docking of the cytosolic NADPH oxidase component p47(phox) may have higher than expected hydrogen peroxide generation capability.
      Title: Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties.
    6. Our results suggest that NOX plays an important role in Cr(VI)-induced ROS generation and carcinogenesis.
      Title: NADPH oxidase activation is required in reactive oxygen species generation and cell transformation induced by hexavalent chromium.
    7. 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.
    8. Nox2-containing NADPH oxidase deficiency protects against hypercholesterolemia-induced impairment of neovascularization.
      Title: Nox2-derived reactive oxygen species contribute to hypercholesterolemia-induced inhibition of neovascularization: effects on endothelial progenitor cells and mature endothelial cells.
    9. Data suggest that the affinity of Nox2 for NADPH is increased in the presence of 6PGDH on cell stimulation.
      Title: Coupling of 6-phosphogluconate dehydrogenase with NADPH oxidase in neutrophils: Nox2 activity regulation by NADPH availability.
    10. Anoxia-reoxygenation is associated with overproduction of platelet TxB(2) and isoprostanes, which is dependent on NOX2-dependent ROS generation.
      Title: Anoxia-reoxygenation enhances platelet thromboxane A2 production via reactive oxygen species-generated NOX2: effect in patients undergoing elective percutaneous coronary intervention.
    Submit: New GeneRIF Correction See all (107)
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    AMCBX2

    Chronic granulomatous disease, X-linked

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    capsid gag HIV-1 Capsid (p24) inhibits interferon gamma induced increases in HLA-DR and cytochrome B heavy chain mRNA levels in the human monocyte-like cell line THP1 PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P04839 P63261 ACTG1    HPRD  PubMed  
    P04839 P13498 CYBA    HPRD  PubMed  
    P04839 P46940 IQGAP1    HPRD  PubMed  
    P04839 P14598 NCF1    HPRD  PubMed  
    P04839 P19878 NCF2    HPRD  PubMed  
    P04839 Q15080 NCF4    HPRD  PubMed  
    P04839 P63000 RAC1    HPRD  PubMed  
    BioGRID:107916 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:107916 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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...
    • 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...
    • 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...
    • 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...
    • RAC1 signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      RAC1 signaling pathway, organism-specific biosystem
      RAC1 signaling pathway
    • Type II interferon signaling (IFNG), organism-specific biosystem (from WikiPathways)
      Type II interferon signaling (IFNG), organism-specific biosystemAdapted from Raza et al. (2008). This pathway is initiated by IFNG binding to its receptor and a subsequent phosphorylation cascade involving a number of the JAK and STAT family of proteins. Several ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to electron carrier activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    flavin adenine dinucleotide binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    heme binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to superoxide-generating NADPH oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    superoxide-generating NADPH oxidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    electron transport chain IEA
    Inferred from Electronic Annotation
    more info
    		  
    hydrogen peroxide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    inflammatory response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    innate immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    oxidation-reduction process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    respiratory burst IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    respiratory burst TAS
    Traceable Author Statement
    more info
    		 PubMed 
    superoxide anion generation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    superoxide anion generation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    superoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    superoxide metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NADPH oxidase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NADPH oxidase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    phagolysosome TAS
    Traceable Author Statement
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    cytochrome b-245 heavy chain
    Names
    cytochrome b-245 heavy chain
    CGD91-phox
    NADPH oxidase 2
    p22 phagocyte B-cytochrome
    cytochrome b558 subunit beta
    cytochrome b(558) subunit beta
    neutrophil cytochrome b 91 kDa polypeptide
    heme-binding membrane glycoprotein gp91phox
    superoxide-generating NADPH oxidase heavy chain subunit
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    NCBI Reference Sequences (RefSeq)

    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_009065.1 RefSeqGene

      Range
      5001..38445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_53

    mRNA and Protein(s)

    1. NM_000397.3 → NP_000388.2  cytochrome b-245 heavy chain

      Status: REVIEWED

      Source sequence(s)
      BC032720, DA995835
      Consensus CDS
      CCDS14242.1
      UniProtKB/Swiss-Prot
      P04839
      Related
      ENSP00000367851, OTTHUMP00000031915, ENST00000378588, OTTHUMT00000080881
      Conserved Domains (2) summary
      cd06186
      Location:297 – 570
      Blast Score: 413
      NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...
      cl01043
      Location:63 – 220
      Blast Score: 118
      Ferric_reduct; Ferric reductase like transmembrane component

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      37639270..37672714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      35383460..35418115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB013904.1 BAA34183.1
    genomic AC233292.3 (156369..186865) None
    genomic AF469769.1 AAL76082.1
    genomic AL627245.1 (24231..57625) None
    genomic CH471141.2 EAW59453.1
    genomic DQ314869.1 ABC40728.1
    genomic X05895.1 CAA29327.1
    mRNA AK289753.1 BAF82442.1
    mRNA AK301476.1 BAG62993.1
    mRNA AK301491.1 BAG63002.1
    mRNA AK304033.1 BAG64947.1
    mRNA AK312929.1 None
    mRNA BC032720.1 AAH32720.1
    mRNA DA995835.1 None
    mRNA S67289.1 AAB29151.1
    mRNA X04011.1 CAA27635.1
    other-genetic DQ890878.2 ABM81804.1
    other-genetic DQ894032.2 ABM84958.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04839.2 GenPept UniProtKB/Swiss-Prot:P04839
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    Additional Links

    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
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