UniProt functional annotation for Q15080



	UniProt functional annotation for Q15080

UniProt code: Q15080.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex. {ECO:0000269|PubMed:8280052}.

Subunit: 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. NCF4 interacts primarily with NCF2 to form a complex with NCF1. {ECO:0000269|PubMed:11684018, ECO:0000269|PubMed:12887891, ECO:0000269|PubMed:15657040, ECO:0000269|PubMed:8280052}.

Subcellular location: Cytoplasm, cytosol {ECO:0000269|PubMed:8280052}. Endosome membrane {ECO:0000269|PubMed:11684018}; Peripheral membrane protein {ECO:0000269|PubMed:11684018}; Cytoplasmic side {ECO:0000269|PubMed:11684018}. Membrane {ECO:0000269|PubMed:11684018}; Peripheral membrane protein {ECO:0000269|PubMed:11684018}.

Tissue specificity: Expression is restricted to hematopoietic cells.

Domain: The PB1 domain mediates the association with NCF2/p67-PHOX.

Domain: The PX domain mediates interaction with membranes enriched in phosphatidylnositol 3-phosphate.

Disease: Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) [MIM:613960]: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269|PubMed:19692703}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex. {ECO:0000269\|PubMed:8280052}.


Subunit:		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. NCF4 interacts primarily with NCF2 to form a complex with NCF1. {ECO:0000269\|PubMed:11684018, ECO:0000269\|PubMed:12887891, ECO:0000269\|PubMed:15657040, ECO:0000269\|PubMed:8280052}.
Subcellular location:		Cytoplasm, cytosol {ECO:0000269\|PubMed:8280052}. Endosome membrane {ECO:0000269\|PubMed:11684018}; Peripheral membrane protein {ECO:0000269\|PubMed:11684018}; Cytoplasmic side {ECO:0000269\|PubMed:11684018}. Membrane {ECO:0000269\|PubMed:11684018}; Peripheral membrane protein {ECO:0000269\|PubMed:11684018}.
Tissue specificity:		Expression is restricted to hematopoietic cells.
Domain:		The PB1 domain mediates the association with NCF2/p67-PHOX.
Domain:		The PX domain mediates interaction with membranes enriched in phosphatidylnositol 3-phosphate.
Disease:		Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) [MIM:613960]: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269\|PubMed:19692703}. Note=The disease is caused by variants affecting the gene represented in this entry.