NCF1 - neutrophil cytosolic factor 1 Gene

Homo sapiens

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

Gene ID: 653361 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%

NCF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09077	NCF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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