• Gene id: 4689

Gene Summary

• Gene Symbol: NCF4   Gene   UCSC   Ensembl
• Aliases: CGD3, NCF, P40PHOX, SH3PXD4
• Gene name: neutrophil cytosolic factor 4
• Alternate names: neutrophil cytosol factor 4, NCF-4, SH3 and PX domain-containing protein 4, neutrophil NADPH oxidase factor 4, neutrophil cytosolic factor 4, 40kDa, p40-phox,
• Gene location: 22q12.3 (36860987: 36878016)     Exons: 10     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It i
• OMIM: 600278

Protein Summary

• Protein general information: Q15080  
  • Name: Neutrophil cytosol factor 4 (NCF 4) (Neutrophil NADPH oxidase factor 4) (SH3 and PX domain containing protein 4) (p40 phox) (p40phox)
  • Length: 339  
  • Mass: 39032
  • Tissue specificity: Expression is restricted to hematopoietic cells.
• Sequence:

  MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYRQFHALQSKLEERFGP
  DSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLPVWVLMDEDVRIFFYQSPYDSEQVPQALRRL
  RPRTRKVKSVSPQGNSVDRMAAPRAEALFDFTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVK
  ILKDFPEEDDPTNWLRCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSD
  EDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP

• Structural information:
  • Protein Domains: (19..14-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (170..22-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (237..32-)
    (/note="PB1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01081"-)
  • Interpro: IPR000919  IPR035541  IPR000270  IPR034853  IPR001683   IPR036871  IPR034912  IPR036028  IPR001452  
  • Prosite: PS51745 PS50195 PS50002
  • CDD: cd06399 cd06882 cd11869
  • PDB: 1H6H 1OEY 1W6X 1W70 1Z9Q 2DYB
  • PDBsum: 1H6H 1OEY 1W6X 1W70 1Z9Q 2DYB
  • DIP: 17019
  • STRING: ENSP00000380334
• Other Databases: GeneCards:  NCF4  Malacards:  NCF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0016176	superoxide-generating NADPH oxidase activator activity	IBA	molecular function
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0043020	NADPH oxidase complex	IBA	cellular component
GO:0006801	superoxide metabolic process	IBA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0016176	superoxide-generating NADPH oxidase activator activity	IMP	molecular function
GO:0006909	phagocytosis	IEA	biological process
GO:0045730	respiratory burst	IEA	biological process
GO:0016176	superoxide-generating NADPH oxidase activator activity	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0043020	NADPH oxidase complex	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045454	cell redox homeostasis	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032010	phagolysosome	TAS	cellular component
GO:0032010	phagolysosome	TAS	cellular component
GO:0032010	phagolysosome	TAS	cellular component
GO:0032010	phagolysosome	TAS	cellular component
GO:0032010	phagolysosome	TAS	cellular component
GO:0034599	cellular response to oxidative stress	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0043020	NADPH oxidase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016175	superoxide-generating NADPH oxidase activity	IGI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055114	oxidation-reduction process	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04145	Phagosome
hsa04380	Osteoclast differentiation
hsa04670	Leukocyte transendothelial migration
hsa05140	Leishmaniasis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq