NCF1 - neutrophil cytosolic factor 1 Gene

Also Known as CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 653361

About NCF1

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,774,011-74,789,315 (from NCBI)

This gene has 11 transcripts (splice variants), 194 orthologues, 3 paralogues and is associated with 4 phenotypes. Biased expression in bone marrow (RPKM 86.3), spleen (RPKM 53.3) and 10 other tissues.

Summary

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 disease. [provided by RefSeq, Jul 2008]

NCF1 Products (1)

mRNA	Protein	Name
NM_000265.7	NP_000256.4	neutrophil cytosol factor 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	7938008	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	12356722	GOA
enables phosphatidylinositol-3,4-bisphosphate binding	IDA IDA: Inferred from direct assay	12356722	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8280052	GOA
enables superoxide-generating NAD(P)H oxidase activity	IMP IMP: Inferred from mutant phenotype	26514923	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein targeting to membrane	IDA IDA: Inferred from direct assay	12356722	GOA
acts upstream of or within positive effect superoxide anion generation	IMP IMP: Inferred from mutant phenotype	2547247	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of NADPH oxidase complex	IDA IDA: Inferred from direct assay	2550933	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	12356722	GOA
located in cytosol	IDA IDA: Inferred from direct assay	2550933	GOA
located in membrane	IDA IDA: Inferred from direct assay	8280052	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26514923	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NCF1 Protein Structure

SH3_1

p47_phox_C

0
100
200
300
390 a.a.

Protein Preferred Names	Protein Names
neutrophil cytosol factor 1	47 kDa autosomal chronic granulomatous disease protein

NCF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NCF1	P14598	NCF4	Homo sapiens	Q15080	X-Ray Diffraction	15657040
Intra	NCF1	P14598	CHAT	Homo sapiens	P28329-3	Validated Y2H	32814053
Intra	NCF1	P14598	CHAT	Homo sapiens	P28329-3	Y2H Pooling	32814053
Intra	NCF1	P14598	CHAT	Homo sapiens	P28329-3	Y2H Array	32814053
Intra	NCF1	P14598	PRKCZ	Homo sapiens	Q05513	IF	27040869
Intra	NCF1	P14598	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	NCF1	P14598	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	NCF1	P14598	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	NCF1	P14598	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	NCF1	P14598	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	NCF1	P14598	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	NCF1	P14598	HSPA8	Homo sapiens	P11142	Anti Tag CoIP	25910212
Intra	NCF1	P14598	ACTB	Homo sapiens	P60709	Far-WB	16375898
Intra	NCF1	P14598	ACTB	Homo sapiens	P60709	Filter Binding	16375898
Intra	NCF1	P14598	GNAI2	Homo sapiens	P04899	Anti Bait CoIP	16782902
Intra	NCF1	P14598	TRAF4	Homo sapiens	Q9BUZ4	Y2H	16330715
Intra	NCF1	P14598	TRAF4	Homo sapiens	Q9BUZ4	Confocal	16330715
Intra	NCF1	P14598	TRAF4	Homo sapiens	Q9BUZ4	Validated Y2H	32296183
Intra	NCF1	P14598	ABI1	Homo sapiens	Q8IZP0	Y2H	12681507
Intra	NCF1	P14598	ABI1	Homo sapiens	Q8IZP0	Pull Down	12681507
Intra	NCF1	P14598	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	NCF1	P14598	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	NCF1	P14598	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Y2H Prey Pooling	32296183
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Y2H	16297854
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Pull Down	19129478
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Validated Y2H	32296183
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Pull Down	16297854
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Y2H Array	32296183
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Fluorescence Spectr	15657040
Intra	NCF1	P14598	NCF2	Homo sapiens	P19878	Anti Bait CoIP	16782902
Intra	NCF1	P14598	CYBA	Homo sapiens	P13498	Biophysical	16326715
Intra	NCF1	P14598	CYBA	Homo sapiens	P13498	NMR	16326715
Intra	NCF1	P14598	CYBA	Homo sapiens	P13498	Fluorescence Spectr	16326715
Intra	NCF1	P14598	CYBA	Homo sapiens	P13498	Pull Down	16326715

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NCF1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70290	Neutrophil cytosol factor 1 Protein, Human (His)	P14598 (M1-V390)	≥ 95%, as determined by reducing SDS-PAGE.

NCF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811005	Phospho-p47 phox (Ser370) Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P811075	Phospho-p47 phox (Ser304) Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P811106	p47 phox Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P811121	Phospho-p47 phox (Ser345) Antibody	WB, IHC-P	Human, Mouse, Rat
HY-P82830	NCF1 Antibody (YA2575)	WB, IP	Human

Related Diseases

Diseases	Alias
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Chronic Granulomatous Disease Due To Deficiency Of Ncf-1 CGD1 Ncf1 Deficiency Soluble Oxidase Component Ii Deficiency Soc2 Deficiency P47-Phox Deficiency Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I Deficiency Of Neutrophil Cytosol Factor 1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Cgd, Autosomal Recessive Cytochrome B-Positive, Type I Granulomatous Disease, Chronic, Due To Ncf1 Deficiency Neutrophil Cytosol Factor 1 Deficiency Chronic Granulomatous Disease 1, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 1 Cdg1 Deficiency Of Ncf1 Deficiency Of P47-Phox Deficiency Of Soc2 Deficiency Of Soluble Oxidase Component Ii Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I Chronic Granulomatous Disease Due To Ncf1 Deficiency
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Granulomatous Disease, Chronic, Autosomal Recessive, 3	CGD3 Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii Granulomatous Disease, Chronic, Due To Ncf4 Deficiency Chronic Granulomatous Disease 3, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 3 Autosomal Recessive Cytochrome B-Positive Cgd Type Iii Cdg3 Chronic Granulomatous Disease Due To Ncf4 Deficiency Cgd Autosomal Recessive Cytochrome B-Positive Type Iii Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii Granulomatous Disease Chronic Due To Ncf4 Deficiency Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3
Cardiomyopathy, Familial Hypertrophic, 4	Hypertrophic Cardiomyopathy 4 CMH4 Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic 4 Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To Cardiomyopathy, Hypertrophic, Familial, Type 4
Chronic Granulomatous Disease	Cgd Granulomatous Disease, Chronic Autosomal Recessive Chronic Granulomatous Disease X-Linked Chronic Granulomatous Disease Bridges-Good Syndrome Congenital Dysphagocytosis Quie Syndrome Chronic Septic Granulomatosis Chronic Granulomatous Disorder Granulomatous Disease Chronic Granulomatous Disease, Chronic, X-Linked
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Phagocyte Bactericidal Dysfunction	Phagocytic Dysfunction
Renovascular Hypertension	Hypertension, Renovascular Hypertension Renovascular
Suppurative Lymphadenitis	Suppurative Lymphadenopathy
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Lung Abscess	Apical Lung Abscess Abscess Of Lung Abscess Of Lung Nos Pulmonary Abscess Multiple Abscess Of Lung
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Middle Ear Adenocarcinoma	Adenocarcinoma Of Middle Ear Adenocarcinoma Of The Middle Ear
Renal Hypertension	Hypertension Renal Hypertension, Renal
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS20305	Ncf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09077	NCF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26813	Ncf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NCF1	MGD	MGI:97283
Canis familiaris	NCF1	VGNC	VGNC:54048
Macaca mulatta	NCF1	VGNC	VGNC:81727
Rattus norvegicus	NCF1	RGD	RGD:61307
Others	NCF1	NCBI