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MGP002036

UniProt Annotations

Entry Information
Gene Nameneutrophil cytosolic factor 4, 40kDa
Protein EntryNCF4_HUMAN
UniProt IDQ15080
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15080-1; Sequence=Displayed; Name=2; IsoId=Q15080-2; Sequence=VSP_004328; Name=3; IsoId=Q15080-3; Sequence=VSP_042681;
DiseaseGranulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) [MIM:613960]: 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:19692703}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe OPR/PB1 domain mediates the association with NCF2/p67- PHOX.
DomainThe PX domain mediates interaction with membranes enriched in phosphatidylnositol 3-phosphate.
FunctionComponent 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}.
InteractionP14598:NCF1; NbExp=2; IntAct=EBI-1036870, EBI-395044; P19878:NCF2; NbExp=5; IntAct=EBI-1036870, EBI-489611;
SimilarityContains 1 OPR domain. {ECO:0000305}.
SimilarityContains 1 PX (phox homology) domain. {ECO:0000255|PROSITE-ProRule:PRU00147}.
SimilarityContains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule:PRU00192}.
Subcellular LocationCytoplasm, cytosol. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Membrane; Peripheral membrane protein.
SubunitComponent 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}.
Tissue SpecificityExpression is restricted to hematopoietic cells.
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