Cybb - cytochrome b-245, beta polypeptide Gene
Also Known as Cgd; Cyd; Nox2; gp91-1; gp91phox; CGD91-phox
Species: Mus musculus
About Cybb
This gene has 5 transcripts (splice variants), 210 orthologues, 5 paralogues and is associated with 59 phenotypes. Biased expression in liver E18 (RPKM 7.), spleen adult (RPKM 4.7) and 13 other tissues.
Summary
This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a light chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of Reactive Oxygen Species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
Cybb Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_007807.5 | NP_031833.3 | cytochrome b-245 heavy chain |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21551061 | MGI |
| enables superoxide-generating NAD(P)H oxidase activity |
IDA
IDA: Inferred from direct assay
|
22493499 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within hydrogen peroxide biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
15258578 | MGI |
| involved in inflammatory response |
IMP
IMP: Inferred from mutant phenotype
|
24739962 | MGI |
| involved in innate immune response |
IMP
IMP: Inferred from mutant phenotype
|
28351984 | MGI |
| involved in superoxide metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
24739962 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of NADPH oxidase complex |
IDA
IDA: Inferred from direct assay
|
24739962 | MGI |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
15499027 | MGI |
| located in phagocytic vesicle |
IDA
IDA: Inferred from direct assay
|
23303671 | MGI |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15499027 | MGI |
Cybb Protein Structure
Ferric_reduct: pfam01794 (64 - 219)
PLN02844: cl33578 (164 - 422)
NOX_Duox_like_FAD_NADP: cd06186 (296 - 569)
NAD_binding_6: pfam08030 (400 - 549)
- 0
- 100
- 200
- 300
- 400
- 500
- 570 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cytochrome b-245 heavy chain |
|
|