InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYBB

Summary

InnateDB Protein

IDBP-55777.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYBB

Protein Name

cytochrome b-245, beta polypeptide

Synonyms

AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; IMD34; NOX2; p91-PHOX;

Species

Homo sapiens

Ensembl Protein

ENSP00000367851

InnateDB Gene

IDBG-55775 (CYBB)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

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:0000269PubMed:10089913, ECO:0000269PubMed:10914676, ECO:0000269PubMed:11462241, ECO:0000269PubMed:11997083, ECO:0000269PubMed:12139950, ECO:0000269PubMed:1710153, ECO:0000269PubMed:18773283, ECO:0000269PubMed:22125116, ECO:0000269PubMed:2556453, ECO:0000269PubMed:7927345, ECO:0000269PubMed:8101486, ECO:0000269PubMed:8182143, ECO:0000269PubMed:8916969, ECO:0000269PubMed:9111587, ECO:0000269PubMed:9585602, ECO:0000269PubMed:9667376, ECO:0000269PubMed:9794433, ECO:0000269PubMed:9856476, ECO:0000269PubMed:9888386}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mycobacteriosis atypical X-linked 2 (AMCBX2) [MIM:300645]: A rare condition characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and 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. {ECO:0000269PubMed:21278736}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Detected in neutrophils (at protein level). {ECO:0000269PubMed:19028840}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	27 [view]
Protein-Protein	13 [view]
Protein-DNA	14 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005244	voltage-gated ion channel activity
GO:0005515	protein binding
GO:0009055	electron carrier activity
GO:0016175	superoxide-generating NADPH oxidase activity
GO:0016491	oxidoreductase activity
GO:0020037	heme binding
GO:0046872	metal ion binding
GO:0046982	protein heterodimerization activity
GO:0050660	flavin adenine dinucleotide binding

Biological Process

GO:0002474	antigen processing and presentation of peptide antigen via MHC class I
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0006801	superoxide metabolic process
GO:0006811	ion transport
GO:0006954	inflammatory response
GO:0007584	response to nutrient
GO:0034765	regulation of ion transmembrane transport
GO:0042493	response to drug
GO:0042554	superoxide anion generation
GO:0042590	antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0045087	innate immune response (InnateDB)
GO:0045730	respiratory burst
GO:0050665	hydrogen peroxide biosynthetic process
GO:0051701	interaction with host
GO:0055114	oxidation-reduction process
GO:0090382	phagosome maturation

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0005791	rough endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0030425	dendrite
GO:0030670	phagocytic vesicle membrane
GO:0043020	NADPH oxidase complex
GO:0043025	neuronal cell body

Protein Structure and Domains

PDB ID

InterPro

IPR000778 Cytochrome b245, heavy chain
IPR008333 Oxidoreductase, FAD-binding domain
IPR013112 FAD-binding 8
IPR013121 Ferric reductase, NAD binding
IPR013130 Ferric reductase transmembrane component-like domain
IPR017938 Riboflavin synthase-like beta-barrel

PFAM

PF00970
PF08022
PF08030
PF01794

PRINTS

PR00466

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P04839