NCF4
entrez
4689
canonical
uniprot
Q15080
canonical
ensembl
ENSG00000100365
resolver
ensp
ENSP00000248899
resolver
ensp
ENSP00000380334
resolver
ensp
ENSP00000498212
resolver
ensp
ENSP00000498381
resolver
enst
ENST00000650698
resolver
enst
ENST00000650827
resolver
genesymbol
NCF4
resolver
genesymbol_syn
SH3PXD4
resolver
hgnc
HGNC:7662
resolver
uniprot
A0A494BZS1
resolver
uniprot
A8K4F9
resolver
uniprot
O60808
resolver
uniprot
Q86U56
resolver
uniprot
Q9BU98
resolver
uniprot
Q9NP45
resolver
uniprot_entry
A0A494BZS1_HUMAN
resolver
uniprot_entry
NCF4_HUMAN
resolver
uniprot_sec
A8K4F9
resolver
uniprot_sec
O60808
resolver
uniprot_sec
Q86U56
resolver
uniprot_sec
Q9BU98
resolver
uniprot_sec
Q9NP45
resolver
amino_acid_sequence
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSDEDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP
uniprot
proteins
disease_involvement
DISEASE: Granulomatous disease, chronic, autosomal recessive, 3 (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.
uniprot
proteins
function
FUNCTION: Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (Probable). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (By similarity). Activation of the NADPH oxidase complex is initiated by the assembly of cytosolic subunits of the NADPH oxidase complex with the core NADPH oxidase complex to form a complex at the plasma membrane or phagosomal membrane (By similarity). This activation process is initiated by phosphorylation dependent binding of the cytosolic NCF1/p47-phox subunit to the C-terminus of CYBA/p22-phox (By similarity). {ECO:0000250|UniProtKB:P04839, ECO:0000250|UniProtKB:P14598, ECO:0000305|PubMed:8280052}.
uniprot
proteins
mass_dalton
39032
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="R->Q: Abolishes interaction with membranes enriched in phosphatidylinositol 3-phosphate."; /evidence="ECO:0000269|PubMed:11684018"; MUTAGEN 60; /note="R->A: Strongly reduces interaction with membranes enriched in phosphatidylinositol 3-phosphate."; /evidence="ECO:0000269|PubMed:11684018"; MUTAGEN 92; /note="K->A: Abolishes interaction with membranes enriched in phosphatidylinositol 3-phosphate."; /evidence="ECO:0000269|PubMed:11684018"; MUTAGEN 94; /note="Y->A: Slightly reduces interaction with membranes enriched in phosphatidylinositol 3-phosphate."; /evidence="ECO:0000269|PubMed:11684018"; MUTAGEN 105; /note="R->A: Abolishes interaction with membranes enriched in phosphatidylinositol 3-phosphate."; /evidence="ECO:0000269|PubMed:11684018"; MUTAGEN 154; /note="T->A: Reduces phosphorylation."; /evidence="ECO:0000269|PubMed:9804763"; MUTAGEN 211; /note="T->A: No effect on phosphorylation."; /evidence="ECO:0000269|PubMed:9804763"; MUTAGEN 251; /note="T->A: No effect on phosphorylation."; /evidence="ECO:0000269|PubMed:9804763"; MUTAGEN 274; /note="T->A: No effect on phosphorylation."; /evidence="ECO:0000269|PubMed:9804763"; MUTAGEN 315; /note="S->A: Reduces phosphorylation."; /evidence="ECO:0000269|PubMed:9804763"; MUTAGEN 327; /note="T->A: No effect on phosphorylation."; /evidence="ECO:0000269|PubMed:9804763
uniprot
proteins
pubmed
10437784
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11684018
uniprot
proteins
pubmed
12887891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657040
uniprot
proteins
pubmed
17290225
uniprot
proteins
pubmed
19692703
uniprot
proteins
pubmed
8280052
uniprot
proteins
pubmed
8839867
uniprot
proteins
pubmed
9804763
uniprot
proteins
sequence_length
339
uniprot
proteins
subcellular_location
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, ECO:0000269|PubMed:8280052}; Peripheral membrane protein {ECO:0000269|PubMed:11684018}. Note=Translocates to the membrane upon activation by phorbol myristate acetate (PMA). {ECO:0000269|PubMed:8280052}.
uniprot
proteins