ID:CY24B_HUMAN DESCRIPTION: RecName: Full=Cytochrome b-245 heavy chain; EC=1.-.-.-; AltName: Full=CGD91-phox; AltName: Full=Cytochrome b(558) subunit beta; Short=Cytochrome b558 subunit beta; AltName: Full=Heme-binding membrane glycoprotein gp91phox; AltName: Full=NADPH oxidase 2; AltName: Full=Neutrophil cytochrome b 91 kDa polypeptide; AltName: Full=Superoxide-generating NADPH oxidase heavy chain subunit; AltName: Full=gp91-1; AltName: Full=gp91-phox; AltName: Full=p22 phagocyte B-cytochrome; FUNCTION: Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. COFACTOR: FAD (Probable). SUBUNIT: Composed of a heavy chain (beta) and a light chain (alpha). Interacts with calprotectin (S100A8/9). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. PTM: Glycosylated. DISEASE: Defects in CYBB are a cause of granulomatous disease,chronic, X-linked (CGD) [MIM:306400]. A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life- threatening bacterial/fungal infections. DISEASE: Defects in CYBB are a cause of mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645]. A rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. SIMILARITY: Contains 1 FAD-binding FR-type domain. SIMILARITY: Contains 1 ferric oxidoreductase domain. SEQUENCE CAUTION: Sequence=CAA27635.1; Type=Erroneous initiation; Sequence=CAA29327.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=CYBBbase; Note=CYBB deficiency database; URL="http://bioinf.uta.fi/CYBBbase/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYBB"; WEB RESOURCE: Name=Mendelian genes cytochrome b-245, beta polypeptide (CYBB); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/CYBB";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P04839
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005244 voltage-gated ion channel activity GO:0005515 protein binding GO:0016175 superoxide-generating NADPH oxidase activity GO:0016491 oxidoreductase activity GO:0020037 heme binding GO:0046872 metal ion binding GO:0046982 protein heterodimerization activity GO:0050660 flavin adenine dinucleotide binding GO:0009055 electron carrier activity
Biological Process: GO:0006801 superoxide metabolic process GO:0006811 ion transport GO:0006954 inflammatory response GO:0007584 response to nutrient GO:0022900 electron transport chain GO:0034220 ion transmembrane transport GO:0034599 cellular response to oxidative stress GO:0034765 regulation of ion transmembrane transport GO:0042493 response to drug GO:0042535 positive regulation of tumor necrosis factor biosynthetic process GO:0042554 superoxide anion generation GO:0043312 neutrophil degranulation GO:0045087 innate immune response GO:0045730 respiratory burst GO:0045766 positive regulation of angiogenesis GO:0048010 vascular endothelial growth factor receptor signaling pathway GO:0050665 hydrogen peroxide biosynthetic process GO:0055114 oxidation-reduction process GO:0071276 cellular response to cadmium ion GO:0071361 cellular response to ethanol GO:0071456 cellular response to hypoxia GO:0097411 hypoxia-inducible factor-1alpha signaling pathway GO:1904044 response to aldosterone GO:1904845 cellular response to L-glutamine GO:1990776 response to angiotensin