UniProt functional annotation for P14598

UniProt code: P14598.

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:19801500, ECO:0000269|PubMed:2547247, ECO:0000269|PubMed:2550933}.
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 (via C-terminus) with NCF2 (via the C-terminal SH3 domain). Interacts with NCF4. Interacts with CYBB. Interacts (via the second SH3 domain) with CYBA. Interacts with NOXA1. Interacts with ADAM15. Interacts with TRAF4. Interacts with FASLG. {ECO:0000269|PubMed:12023963, ECO:0000269|PubMed:12169629, ECO:0000269|PubMed:12716910, ECO:0000269|PubMed:12732142, ECO:0000269|PubMed:15657040, ECO:0000269|PubMed:16052631, ECO:0000269|PubMed:16326715, ECO:0000269|PubMed:19718658, ECO:0000269|PubMed:19807924, ECO:0000269|PubMed:2550933, ECO:0000269|PubMed:9224653}.
Subcellular location: Cytoplasm, cytosol. Membrane; Peripheral membrane protein; Cytoplasmic side.
Tissue specificity: Detected in peripheral blood monocytes and neutrophils (at protein level). {ECO:0000269|PubMed:2547247, ECO:0000269|PubMed:2550933}.
Domain: The PX domain mediates interaction with phosphatidylinositol 3,4-bisphosphate and other anionic phospholipids. In the autoinhibited, unphosphorylated state an intramolecular interaction with the C-terminal SH3 domain precludes phospholipid binding and interaction with CYBA. Phosphorylation disrupts the autoinhibited state. {ECO:0000269|PubMed:12356722, ECO:0000269|PubMed:12732142}.
Ptm: Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity. {ECO:0000269|PubMed:19801500, ECO:0000269|PubMed:8089108}.
Disease: Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM:233700]: 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:11133775, ECO:0000269|PubMed:23910690}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity: Contains 1 PX (phox homology) domain. {ECO:0000255|PROSITE-ProRule:PRU00147}.
Similarity: Contains 2 SH3 domains. {ECO:0000255|PROSITE- ProRule:PRU00192}.
Sequence caution: Sequence=BAF84783.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG54596.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.