Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	653361
Gene name Gene Name - the full gene name approved by the HGNC.	Neutrophil cytosolic factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NCF1
Synonyms (NCBI Gene) Gene synonyms aliases	CGD1, NCF-1, NCF-47K, NCF1A, NOXO2, SH3PXD1A, p47-phox, p47phox
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4029402	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs119103270	G>A	Pathogenic	Missense variant, coding sequence variant
rs119103271	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs119103272	T>A	Pathogenic	Coding sequence variant, stop gained
rs119103273	G>A	Pathogenic	Missense variant, coding sequence variant
rs145360423	G>A	Pathogenic	Stop gained, coding sequence variant
rs782800778	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041799	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1057519503	G>A	Pathogenic	3 prime UTR variant
rs1307080411	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563003964	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584370623	->CGAG	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(3)

miRTarBase ID	miRNA	Experiments
MIRT1176351	hsa-miR-1908	CLIP-seq
MIRT1176352	hsa-miR-4461	CLIP-seq
MIRT1176353	hsa-miR-663	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
HBP1	Repression	15024088;18258815

Show/Hide all(62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001878	Process	Response to yeast	IEA
GO:0001909	Process	Leukocyte mediated cytotoxicity	IEA
GO:0002679	Process	Respiratory burst involved in defense response	IEA
GO:0005515	Function	Protein binding	IPI	8280052, 11094157, 11733522, 12681507, 12732142, 15657040, 16297854, 16326715, 16330715, 16375898, 16782902, 17803994, 19129478, 25825872, 25910212, 27040869, 30630949, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	2550933, 8280052, 26514923
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	2848318
GO:0005886	Component	Plasma membrane	IDA	26514923
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0006612	Process	Protein targeting to membrane	IDA	12356722
GO:0006691	Process	Leukotriene metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	TAS	7938008
GO:0006954	Process	Inflammatory response	IEA
GO:0006968	Process	Cellular defense response	IEA
GO:0006968	Process	Cellular defense response	TAS	2848318
GO:0008289	Function	Lipid binding	IEA
GO:0009055	Function	Electron transfer activity	TAS	2848318
GO:0009617	Process	Response to bacterium	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	12356722
GO:0016020	Component	Membrane	IDA	8280052
GO:0016020	Component	Membrane	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IMP	26514923
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IBA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IEA
GO:0017124	Function	SH3 domain binding	IPI	7938008
GO:0030425	Component	Dendrite	IEA
GO:0032010	Component	Phagolysosome	TAS
GO:0035091	Function	Phosphatidylinositol binding	IDA	12356722
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IDA	38355798
GO:0042554	Process	Superoxide anion generation	IEA
GO:0042554	Process	Superoxide anion generation	IMP	2547247
GO:0042554	Process	Superoxide anion generation	TAS	7938008
GO:0042742	Process	Defense response to bacterium	IEA
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	2550933, 8280052, 38355798
GO:0043020	Component	NADPH oxidase complex	IEA
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043020	Component	NADPH oxidase complex	TAS	7938008
GO:0043025	Component	Neuronal cell body	IEA
GO:0043325	Function	Phosphatidylinositol-3,4-bisphosphate binding	IDA	12356722
GO:0045087	Process	Innate immune response	TAS	7938008
GO:0045730	Process	Respiratory burst	IBA
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	IEA
GO:0045730	Process	Respiratory burst	NAS	27048830
GO:0045730	Process	Respiratory burst	TAS	7938008
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IEA
GO:0050832	Process	Defense response to fungus	IEA
GO:0060264	Process	Regulation of respiratory burst involved in inflammatory response	IEA
GO:0070946	Process	Neutrophil-mediated killing of gram-positive bacterium	IEA
GO:0070947	Process	Neutrophil-mediated killing of fungus	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071394	Process	Cellular response to testosterone stimulus	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:1903409	Process	Reactive oxygen species biosynthetic process	IEA

MIM	HGNC	e!Ensembl
608512	7660	ENSG00000158517

Protein

UniProt ID

P14598

Protein 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

Protein 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(-)) (PubMed:2547247, PubMed:2550933, PubMed:38355798). In the activated complex, electrons are

PDB

1GD5 , 1K4U , 1KQ6 , 1NG2 , 1O7K , 1OV3 , 1UEC , 1W70 , 1WLP , 7YXW , 8WEJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00787	PX	30 → 121	PX domain	Domain
PF00018	SH3_1	162 → 207	SH3 domain	Domain
PF00018	SH3_1	232 → 277	SH3 domain	Domain
PF16621	NECFESHC	282 → 330	SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1	Disordered
PF08944	p47_phox_C	358 → 390	NADPH oxidase subunit p47Phox, C terminal domain	Disordered

Tissue specificity

TISSUE SPECIFICITY: Detected in peripheral blood monocytes and neutrophils (at protein level). {ECO:0000269|PubMed:2547247, ECO:0000269|PubMed:2550933}.

Sequence

MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRFTEIYEFHKTLKEMFPI
EAGAINPENRIIPHLPAPKWFDGQRAAENRQGTLTEYCSTLMSLPTKISRCPHLLDFFKV
RPDDLKLPTDNQTKKPETYLMPKDGKSTATDITGPIILQTYRAIANYEKTSGSEMALSTG
DVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDETEDPEPNYAGEPYVAIKAYTAV
EGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFPSMYLQKSGQDVSQAQRQIKRGAPP
RRSSIRNAHSIHQRSRKRLSQDAYRRNSVRFLQQRRRQARPGPQSPGSPLEEERQTQRSK
PQPAVPPRPSADLILNRCSESTKRKLASAV

Sequence length

390

Interactions

View interactions

	KEGG		Reactome
	Chemokine signaling pathway Phagosome Osteoclast differentiation Neutrophil extracellular trap formation Fc gamma R-mediated phagocytosis Leukocyte transendothelial migration Prion disease Leishmaniasis Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy Lipid and atherosclerosis Fluid shear stress and atherosclerosis		ROS and RNS production in phagocytes Cross-presentation of particulate exogenous antigens (phagosomes) Detoxification of Reactive Oxygen Species VEGFA-VEGFR2 Pathway RHO GTPases Activate NADPH Oxidases

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Granulomatous Disease	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1, chronic granulomatous disease, granulomatous disease, chronic, x-linked	rs1307080411, rs119103271, rs119103272, rs119103273, rs145360423, rs4029402, rs782800778, rs1584370623, rs1563003964, rs119103270	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 4	rs1057519503	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Habitual	Associate	37243946
Abortion Spontaneous	Associate	37243946
Adenocarcinoma of Lung	Associate	38204755
Anal Gland Neoplasms	Associate	29454792
Androgen Insensitivity Syndrome	Associate	30506560
Antiphospholipid Syndrome	Associate	37243946
Aphasia Conduction	Associate	39384978
Arthritis	Associate	17897462
Arthritis Rheumatoid	Associate	28135245, 31705128, 33892719
Atrial Fibrillation	Stimulate	23916928
Autoimmune Diseases	Associate	19077231, 28135245, 33892719, 33903979, 34708124, 36263058
Carcinoma Renal Cell	Associate	34708124
Colorectal Neoplasms	Associate	25613817
Complement Component 6 Deficiency	Associate	1325210
Crohn Disease	Associate	29454792
Diabetes Mellitus Type 1	Stimulate	21813271
Dystonic Disorders	Associate	19279361
Ectodermal Dysplasia	Associate	18523147
Essential Hypertension	Associate	16532385
Fever	Associate	33892719
Granulomatous Disease Chronic	Associate	10233905, 10627478, 10706888, 11133775, 11166463, 11698128, 12176908, 1313715, 1325210, 1332032, 18780954, 20133696, 22924696, 23306776, 23393912 View all (18 more)
Granulomatous Disease Chronic	Inhibit	30651282, 8182143
Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type I	Associate	11698128
Granulomatous Mastitis	Associate	39796280
Headache	Associate	33892719
Hereditary Autoinflammatory Diseases	Associate	33892719
Hodgkin Disease	Inhibit	24376854
Hypertension	Associate	16532385, 23340515
Hypoxia	Associate	33892719
IgA Deficiency	Associate	18780954
Immune System Diseases	Associate	35482138
Immunologic Deficiency Syndromes	Inhibit	23306776
Inflammation	Associate	18650365, 33892719
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26136341
Leukemia Myeloid Acute	Associate	28287132
Lupus Erythematosus Discoid	Associate	23393912
Lupus Erythematosus Systemic	Associate	28135245, 31705128, 33892719, 38442270
Mitral Valve Prolapse	Associate	37180137
Multiple Sclerosis	Associate	22366799
Multiple Trauma	Associate	31705128
Myeloproliferative Disorders	Associate	23975181
Neoplasm Metastasis	Associate	34708124
Neoplasms	Associate	31863907, 34708124, 38204755
Obesity	Associate	27765769
Parasitic Diseases	Associate	19077231
Polycystic Ovary Syndrome	Stimulate	31298704
Pulmonary Disease Chronic Obstructive	Associate	27555763
Purpura Thrombocytopenic Idiopathic	Associate	18780954
Retinitis Pigmentosa	Associate	23393912
Rheumatic Diseases	Associate	31705128
Sarcopenia	Associate	40081680
Scleroderma Systemic	Associate	31705128
Sjogren's Syndrome	Associate	28135245, 31705128, 33892719
Stiff Skin Syndrome	Associate	24126171
Williams Syndrome	Associate	16532385, 23340515, 24126171, 34804071

NCF1 (neutrophil cytosolic factor 1)