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CYBA cytochrome b-245, alpha polypeptide [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000101 Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA. Full Length $215.47
ORF Sequence $170.52


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
KEGG
hsa04670Leukocyte transendothelial migration
hsa04380Osteoclast differentiation
hsa04145Phagosome
hsa05140Leishmaniasis
WikiPathways
WP408Oxidative Stress
Pathway Interaction Database
rac1_pathwayRAC1 signaling pathway
Homo sapiens (human)CYBANP_000092.2
Pan troglodytes (chimpanzee)LOC468068XP_523459.1
Canis lupus familiaris (dog)CYBAXP_546784.2
Bos taurus (cattle)CYBANP_776459.1
Mus musculus (house mouse)CybaNP_031832.1
Rattus norvegicus (Norway rat)CybaNP_077074.1
Danio rerio (zebrafish)cybaNP_956873.1
Process
IDNameEvidence
GO:0001938positive regulation of endothelial cell proliferationIEA
GO:0003106negative regulation of glomerular filtration by angiotensinIEA
GO:0006801superoxide metabolic processIMP
GO:0006810transportIEA
GO:0006954inflammatory responseIMP
GO:0008217regulation of blood pressureIEA
GO:0014895smooth muscle hypertrophyISS
GO:0017004cytochrome complex assemblyIDA
GO:0022900electron transport chainIEA
GO:0030307positive regulation of cell growthIEA
GO:0031667response to nutrient levelsIEA
GO:0042554superoxide anion generationIMP
GO:0045087innate immune responseIMP
GO:0045730respiratory burstIMP
GO:0050665hydrogen peroxide biosynthetic processISS
GO:0055114oxidation-reduction processIMP
GO:0070555response to interleukin-1IEA
GO:0071230cellular response to amino acid stimulusIEA
GO:0071260cellular response to mechanical stimulusIEA
GO:0071333cellular response to glucose stimulusIEA
GO:0071356cellular response to tumor necrosis factorIEA
GO:0071407cellular response to organic cyclic compoundIEA
GO:0071480cellular response to gamma radiationIEA
Component
IDNameEvidence
GO:0005737cytoplasmIEA
GO:0005739mitochondrionIEA
GO:0005794Golgi apparatusIEA
GO:0016020membraneIEA
GO:0016324apical plasma membraneIEA
GO:0030141stored secretory granuleTAS
GO:0030425dendriteIEA
GO:0043020NADPH oxidase complexIDA
GO:0043020NADPH oxidase complexIMP
GO:0043025neuronal cell bodyIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0009055electron carrier activityIDA
GO:0009055electron carrier activityTAS
GO:0016175superoxide-generating NADPH oxidase activityIMP
GO:0016491oxidoreductase activityIEA
GO:0017124SH3 domain bindingIPI
GO:0020037heme bindingIEA
GO:0046872metal ion bindingIEA
GO:0046982protein heterodimerization activityIPI
GeneCards CYBA
PDB 1WLP
UniProt P13498
MIM 608508
Ensembl ENSG00000051523
HGNC 2577
HPRD 01989

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