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MGP000741

UniProt Annotations

Entry Information
Gene Namecytochrome b-245, alpha polypeptide
Protein EntryCY24A_HUMAN
UniProt IDP13498
SpeciesHuman
Comments
Comment typeDescription
DiseaseGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]: 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. {ECO:0000269|PubMed:10759707, ECO:0000269|PubMed:10910929, ECO:0000269|PubMed:10914676, ECO:0000269|PubMed:1415254, ECO:0000269|PubMed:1763037, ECO:0000269|PubMed:18422995, ECO:0000269|PubMed:2243141, ECO:0000269|PubMed:23910690, ECO:0000269|PubMed:8168815}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCritical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide. {ECO:0000269|PubMed:15824103}.
InteractionP14598:NCF1; NbExp=7; IntAct=EBI-986058, EBI-395044; Q8NFA2:NOXO1; NbExp=6; IntAct=EBI-986058, EBI-7130806;
PtmPhosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding. {ECO:0000250}.
PtmThe heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
SimilarityBelongs to the p22phox family. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:15585859, ECO:0000269|PubMed:22808130}.
SubunitComposed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1 (via SH3 domain). Interacts with SH3PXD2A (By similarity). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9). {ECO:0000250, ECO:0000269|PubMed:12716910, ECO:0000269|PubMed:15561711, ECO:0000269|PubMed:15927447, ECO:0000269|PubMed:16326715, ECO:0000269|PubMed:22808130}.
Web ResourceName=CYBAbase; Note=CYBA mutation db; URL="http://structure.bmc.lu.se/idbase/CYBAbase/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=C&genename=CYBB+%40+GP91-PHOX";
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