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MT000160

UniProt Annotations

Entry Information

Gene Name	cytochrome b-245, alpha polypeptide
Protein Entry	CY24A_HUMAN
UniProt ID	P13498
Species	Human

Comments

Comment type	Description
Disease	Granulomatous 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.
Function	Critical 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}.
Interaction	P14598:NCF1; NbExp=7; IntAct=EBI-986058, EBI-395044; Q8NFA2:NOXO1; NbExp=6; IntAct=EBI-986058, EBI-7130806;
Ptm	Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding. {ECO:0000250}.
Ptm	The 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.
Similarity	Belongs to the p22phox family. {ECO:0000305}.
Subcellular Location	Cell membrane {ECO:0000269\|PubMed:15585859, ECO:0000269\|PubMed:22808130}.
Subunit	Composed 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 Resource	Name=CYBAbase; Note=CYBA mutation db; URL="http://bioinf.uta.fi/CYBAbase/";
Web Resource	Name=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";