UniProt functional annotation for P19878



	UniProt functional annotation for P19878

UniProt code: P19878.

Organism: Homo sapiens (Human).

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

Function: NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). {ECO:0000269|PubMed:12207919}.

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. Interacts with NCF4. Interacts (via the C-terminal SH3 domain) with NCF1 (via C-terminus). Interacts with SYTL1 and RAC1. May interact with NOXO1. Interacts with S100A8 and calprotectin (S100A8/9). {ECO:0000269|PubMed:11090627, ECO:0000269|PubMed:11278853, ECO:0000269|PubMed:12169629, ECO:0000269|PubMed:12207919, ECO:0000269|PubMed:12716910, ECO:0000269|PubMed:12887891, ECO:0000269|PubMed:15642721, ECO:0000269|PubMed:17290225}.

Subcellular location: Cytoplasm.

Domain: The OPR/PB1 domain mediates the association with NCF4/p40-PHOX. {ECO:0000269|PubMed:17290225}.

Disease: Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]: 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:10498624, ECO:0000269|PubMed:10598813, ECO:0000269|PubMed:11112388, ECO:0000269|PubMed:16937026, ECO:0000269|PubMed:18625437, ECO:0000269|PubMed:19624736, ECO:0000269|PubMed:20167518, ECO:0000269|PubMed:23910690, ECO:0000269|PubMed:8286749, ECO:0000269|PubMed:9070911}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the NCF2/NOXA1 family. {ECO:0000305}.

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:		NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production). {ECO:0000269\|PubMed:12207919}.


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. Interacts with NCF4. Interacts (via the C-terminal SH3 domain) with NCF1 (via C-terminus). Interacts with SYTL1 and RAC1. May interact with NOXO1. Interacts with S100A8 and calprotectin (S100A8/9). {ECO:0000269\|PubMed:11090627, ECO:0000269\|PubMed:11278853, ECO:0000269\|PubMed:12169629, ECO:0000269\|PubMed:12207919, ECO:0000269\|PubMed:12716910, ECO:0000269\|PubMed:12887891, ECO:0000269\|PubMed:15642721, ECO:0000269\|PubMed:17290225}.
Subcellular location:		Cytoplasm.
Domain:		The OPR/PB1 domain mediates the association with NCF4/p40-PHOX. {ECO:0000269\|PubMed:17290225}.
Disease:		Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]: 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:10498624, ECO:0000269\|PubMed:10598813, ECO:0000269\|PubMed:11112388, ECO:0000269\|PubMed:16937026, ECO:0000269\|PubMed:18625437, ECO:0000269\|PubMed:19624736, ECO:0000269\|PubMed:20167518, ECO:0000269\|PubMed:23910690, ECO:0000269\|PubMed:8286749, ECO:0000269\|PubMed:9070911}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the NCF2/NOXA1 family. {ECO:0000305}.