CYBB cytochrome b-245, beta polypeptide [Homo sapiens (human)]
| Gene Symbol | CYBB |
| Entrez Gene ID | 1536 |
| Full Name | cytochrome b-245, beta polypeptide |
| Synonyms | CGD, GP91-1, GP91-PHOX, GP91PHOX, NOX2, p91-PHOX |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
X Xp21.1 |
| 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]. |
| Disorder | MIM: 300481 Chronic granulomatous disease, X-linked, 306400 (3) |
| mRNA | NM_000397, 163854302 |
| Protein | NP_000388, 6996021 |
| Product | cytochrome b-245 heavy chain |
| RefSeq Status | REVIEWED |
| hsa04670 | Leukocyte transendothelial migration |
| hsa04145 | Phagosome |
| hsa04380 | Osteoclast differentiation |
Pathway Interaction Database
| rac1_pathway | RAC1 signaling pathway |
WikiPathways
| WP619 | Type II interferon signaling (IFNG) |
| Homo sapiens (human) | CYBB | NP_000388.2 |
| Pan troglodytes (chimpanzee) | LOC465566 | XP_001136590.1 |
| Canis lupus familiaris (dog) | CYBB | XP_548945.2 |
| Bos taurus (cattle) | CYBB | NP_776460.1 |
| Mus musculus (house mouse) | Cybb | NP_031833.2 |
| Rattus norvegicus (Norway rat) | Cybb | NP_076455.1 |
| Gallus gallus (chicken) | CYBB | XP_416783.2 |
| Danio rerio (zebrafish) | cybb | NP_956708.1 |
| Arabidopsis thaliana (thale cress) | AT1G19230 | NP_173357.1 |
| ID | Name | Evidence |
| GO:0006801 | superoxide metabolic process | IDA |
| GO:0006801 | superoxide metabolic process | TAS |
| GO:0006811 | ion transport | IEA |
| GO:0006954 | inflammatory response | TAS |
| GO:0022900 | electron transport chain | IEA |
| GO:0042554 | superoxide anion generation | IDA |
| GO:0042554 | superoxide anion generation | TAS |
| GO:0045087 | innate immune response | IMP |
| GO:0045087 | innate immune response | TAS |
| GO:0045730 | respiratory burst | IMP |
| GO:0045730 | respiratory burst | TAS |
| GO:0055114 | oxidation-reduction process | IDA |
| GO:0055114 | oxidation-reduction process | TAS |
Component
| ID | Name | Evidence |
| GO:0005887 | integral to plasma membrane | IDA |
| GO:0016020 | membrane | IEA |
| GO:0043020 | NADPH oxidase complex | IDA |
| GO:0043020 | NADPH oxidase complex | TAS |
Function
| ID | Name | Evidence |
| GO:0005244 | voltage-gated ion channel activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0009055 | electron carrier activity | IDA |
| GO:0016175 | superoxide-generating NADPH oxidase activity | IDA |
| GO:0016175 | superoxide-generating NADPH oxidase activity | TAS |
| GO:0016491 | oxidoreductase activity | IEA |
| GO:0020037 | heme binding | IMP |
| GO:0046872 | metal ion binding | IEA |
| GO:0046982 | protein heterodimerization activity | IPI |
| GO:0050660 | flavin adenine dinucleotide binding | IMP |
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