CYBA cytochrome b-245, alpha polypeptide [Homo sapiens (human)]
| Gene Symbol | CYBA |
| Entrez Gene ID | 1535 |
| Full Name | cytochrome b-245, alpha polypeptide |
| Synonyms | p22-PHOX |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
16 16q24 |
| Summary | Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq]. |
| Disorder | MIM: 608508 Chronic granulomatous disease, autosomal, due to deficiency of CYBA, |
| mRNA | NM_000101, 68509913 |
| Protein | NP_000092, 68509914 |
| Product | cytochrome b-245 light chain |
| RefSeq Status | REVIEWED |
| hsa04670 | Leukocyte transendothelial migration |
| hsa04380 | Osteoclast differentiation |
| hsa04145 | Phagosome |
| hsa05140 | Leishmaniasis |
WikiPathways
| WP408 | Oxidative Stress |
Pathway Interaction Database
| rac1_pathway | RAC1 signaling pathway |
| Homo sapiens (human) | CYBA | NP_000092.2 |
| Pan troglodytes (chimpanzee) | LOC468068 | XP_523459.1 |
| Canis lupus familiaris (dog) | CYBA | XP_546784.2 |
| Bos taurus (cattle) | CYBA | NP_776459.1 |
| Mus musculus (house mouse) | Cyba | NP_031832.1 |
| Rattus norvegicus (Norway rat) | Cyba | NP_077074.1 |
| Danio rerio (zebrafish) | cyba | NP_956873.1 |
| ID | Name | Evidence |
| GO:0001938 | positive regulation of endothelial cell proliferation | IEA |
| GO:0003106 | negative regulation of glomerular filtration by angiotensin | IEA |
| GO:0006801 | superoxide metabolic process | IMP |
| GO:0006810 | transport | IEA |
| GO:0006954 | inflammatory response | IMP |
| GO:0008217 | regulation of blood pressure | IEA |
| GO:0014895 | smooth muscle hypertrophy | ISS |
| GO:0017004 | cytochrome complex assembly | IDA |
| GO:0022900 | electron transport chain | IEA |
| GO:0030307 | positive regulation of cell growth | IEA |
| GO:0031667 | response to nutrient levels | IEA |
| GO:0042554 | superoxide anion generation | IMP |
| GO:0045087 | innate immune response | IMP |
| GO:0045730 | respiratory burst | IMP |
| GO:0050665 | hydrogen peroxide biosynthetic process | ISS |
| GO:0055114 | oxidation-reduction process | IMP |
| GO:0070555 | response to interleukin-1 | IEA |
| GO:0071230 | cellular response to amino acid stimulus | IEA |
| GO:0071260 | cellular response to mechanical stimulus | IEA |
| GO:0071333 | cellular response to glucose stimulus | IEA |
| GO:0071356 | cellular response to tumor necrosis factor | IEA |
| GO:0071407 | cellular response to organic cyclic compound | IEA |
| GO:0071480 | cellular response to gamma radiation | IEA |
Component
| ID | Name | Evidence |
| GO:0005737 | cytoplasm | IEA |
| GO:0005739 | mitochondrion | IEA |
| GO:0005794 | Golgi apparatus | IEA |
| GO:0016020 | membrane | IEA |
| GO:0016324 | apical plasma membrane | IEA |
| GO:0030141 | stored secretory granule | TAS |
| GO:0030425 | dendrite | IEA |
| GO:0043020 | NADPH oxidase complex | IDA |
| GO:0043020 | NADPH oxidase complex | IMP |
| GO:0043025 | neuronal cell body | IEA |
Function
| ID | Name | Evidence |
| GO:0005515 | protein binding | IPI |
| GO:0009055 | electron carrier activity | IDA |
| GO:0009055 | electron carrier activity | TAS |
| GO:0016175 | superoxide-generating NADPH oxidase activity | IMP |
| GO:0016491 | oxidoreductase activity | IEA |
| GO:0017124 | SH3 domain binding | IPI |
| GO:0020037 | heme binding | IEA |
| GO:0046872 | metal ion binding | IEA |
| GO:0046982 | protein heterodimerization activity | IPI |
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