• Gene id: 653361

Gene Summary

• Gene Symbol: NCF1   Gene   UCSC   Ensembl
• Aliases: NCF1A, NOXO2, SH3PXD1A, p47phox
• Gene name: neutrophil cytosolic factor 1
• Alternate names: neutrophil cytosol factor 1, 47 kDa autosomal chronic granulomatous disease protein, 47 kDa neutrophil oxidase factor, NADPH oxidase organizer 2, NCF-1, NCF-47K, SH3 and PX domain-containing protein 1A, neutrophil NADPH oxidase factor 1, neutrophil cytosolic fact,
• Gene location: 7q11.23 (74773961: 74789375)     Exons: 11     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disea
• OMIM: 608512

Protein Summary

• Protein general information: P14598  
  • Name: Neutrophil cytosol factor 1 (NCF 1) (47 kDa autosomal chronic granulomatous disease protein) (47 kDa neutrophil oxidase factor) (NCF 47K) (Neutrophil NADPH oxidase factor 1) (Nox organizer 2) (Nox organizing protein 2) (SH3 and PX domain containing protei
  • Length: 390  
  • Mass: 44682
  • Tissue specificity: Detected in peripheral blood monocytes and neutrophils (at protein level). {ECO
• Sequence:

  MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRFTEIYEFHKTLKEMFPIEAGAINPENRIIPHL
  PAPKWFDGQRAAENRQGTLTEYCSTLMSLPTKISRCPHLLDFFKVRPDDLKLPTDNQTKKPETYLMPKDGKSTAT
  DITGPIILQTYRAIANYEKTSGSEMALSTGDVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDETEDPEPN
  YAGEPYVAIKAYTAVEGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFPSMYLQKSGQDVSQAQRQIKRGAPP
  RRSSIRNAHSIHQRSRKRLSQDAYRRNSVRFLQQRRRQARPGPQSPGSPLEEERQTQRSKPQPAVPPRPSADLIL
  NRCSESTKRKLASAV

• Structural information:
  • Protein Domains: (4..12-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (156..21-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (226..28-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR015039  IPR035756  IPR035757  IPR032136  IPR001655   IPR001683  IPR036871  IPR034909  IPR036028  IPR001452  
  • Prosite: PS50195 PS50002
  • CDD: cd06887 cd12021 cd12022
  • PDB: 1GD5 1K4U 1KQ6 1NG2 1O7K 1OV3 1UEC 1W70 1WLP
  • PDBsum: 1GD5 1K4U 1KQ6 1NG2 1O7K 1OV3 1UEC 1W70 1WLP
  • DIP: 126
  • STRING: ENSP00000289473
• Other Databases: GeneCards:  NCF1  Malacards:  NCF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006801	superoxide metabolic process	IBA	biological process
GO:0045730	respiratory burst	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0016175	superoxide-generating NADPH oxidase activity	IBA	molecular function
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:0043325	phosphatidylinositol-3,4-bisphosphate binding	IBA	molecular function
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0043020	NADPH oxidase complex	IDA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0006612	protein targeting to membrane	IDA	biological process
GO:0042554	superoxide anion generation	IMP	biological process
GO:0016175	superoxide-generating NADPH oxidase activity	IMP	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016175	superoxide-generating NADPH oxidase activity	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0005829	cytosol	TAS	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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0045730	respiratory burst	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043020	NADPH oxidase complex	IEA	cellular component
GO:0016175	superoxide-generating NADPH oxidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006801	superoxide metabolic process	TAS	biological process
GO:0042554	superoxide anion generation	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0045730	respiratory burst	TAS	biological process
GO:0043020	NADPH oxidase complex	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:1900745	positive regulation of p38MAPK cascade	IMP	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0071276	cellular response to cadmium ion	IMP	biological process
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	IMP	biological process
GO:0046330	positive regulation of JNK cascade	IMP	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0034614	cellular response to reactive oxygen species	IDA	biological process
GO:0016175	superoxide-generating NADPH oxidase activity	IMP	molecular function
GO:0071276	cellular response to cadmium ion	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0043020	NADPH oxidase complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009055	electron transfer activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04062	Chemokine signaling pathway
hsa04145	Phagosome
hsa04380	Osteoclast differentiation
hsa05418	Fluid shear stress and atherosclerosis
hsa04670	Leukocyte transendothelial migration
hsa04666	Fc gamma R-mediated phagocytosis
hsa05140	Leishmaniasis

Diseases

Associated diseases	References
Chronic granulomatous disease	KEGG:H00098
Chronic granulomatous disease	KEGG:H00098
Williams-Beuren syndrome	PMID:16532385
Chronic granulomatous disease	PMID:7678602
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq