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MGP000742

UniProt Annotations

Entry Information

Gene Name	cytochrome b-245, beta polypeptide
Protein Entry	CY24B_HUMAN
UniProt ID	P04839
Species	Human

Comments

Comment type	Description
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000305};
Disease	Granulomatous disease, chronic, X-linked (CGD) [MIM:306400]: 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:10089913, ECO:0000269\|PubMed:10914676, ECO:0000269\|PubMed:11462241, ECO:0000269\|PubMed:11997083, ECO:0000269\|PubMed:12139950, ECO:0000269\|PubMed:1710153, ECO:0000269\|PubMed:18773283, ECO:0000269\|PubMed:22125116, ECO:0000269\|PubMed:23910690, ECO:0000269\|PubMed:2556453, ECO:0000269\|PubMed:7927345, ECO:0000269\|PubMed:8101486, ECO:0000269\|PubMed:8182143, ECO:0000269\|PubMed:8916969, ECO:0000269\|PubMed:9111587, ECO:0000269\|PubMed:9585602, ECO:0000269\|PubMed:9667376, ECO:0000269\|PubMed:9794433, ECO:0000269\|PubMed:9856476, ECO:0000269\|PubMed:9888386}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Immunodeficiency 34 (IMD34) [MIM:300645]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. {ECO:0000269\|PubMed:21278736}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Function	Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.
Ptm	Glycosylated. {ECO:0000269\|PubMed:19159218}.
Ptm	Phosphorylated on Ser and Thr residues. {ECO:0000269\|PubMed:19028840}.
Sequence Caution	Sequence=CAA27635.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA29327.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Contains 1 FAD-binding FR-type domain. {ECO:0000255\|PROSITE-ProRule:PRU00716}.
Similarity	Contains 1 ferric oxidoreductase domain. {ECO:0000305}.
Subcellular Location	Cell membrane; Multi-pass membrane protein.
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. Interacts with calprotectin (S100A8/9). Interacts with NRROS; the interaction is direct and impairs formation of a stable NADPH oxidase complex. {ECO:0000269\|PubMed:19028840, ECO:0000269\|PubMed:3600769, ECO:0000269\|PubMed:9224653}.
Tissue Specificity	Detected in neutrophils (at protein level). {ECO:0000269\|PubMed:19028840}.
Web Resource	Name=CYBBbase; Note=CYBB deficiency database; URL="http://structure.bmc.lu.se/idbase/CYBBbase/";
Web Resource	Name=Mendelian genes cytochrome b-245, beta polypeptide (CYBB); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/CYBB";