NCF4 - neutrophil cytosolic factor 4 Gene

Also Known as NCF; CGD3; P40PHOX; SH3PXD4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4689

About NCF4

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:36,861,006-36,878,015 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 201 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in bone marrow (RPKM 51.6), appendix (RPKM 18.9) and 11 other tissues.

Summary

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 interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

NCF4 Products (2)

mRNA	Protein	Name
NM_000631.5	NP_000622.2	neutrophil cytosol factor 4 isoform 1
NM_013416.4	NP_038202.2	neutrophil cytosol factor 4 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidylinositol-3-phosphate binding	IDA IDA: Inferred from direct assay	11684018	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8280052	GOA
enables superoxide-generating NADPH oxidase activator activity	IMP IMP: Inferred from mutant phenotype	8280052	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in superoxide anion generation	IMP IMP: Inferred from mutant phenotype	8280052	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of NADPH oxidase complex	IDA IDA: Inferred from direct assay	8280052	GOA
located in cytosol	IDA IDA: Inferred from direct assay	8280052	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	11684018	GOA
located in membrane	IDA IDA: Inferred from direct assay	8280052	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

NCF4 Protein Structure

SH3_1

PB1

0
100
200
300
339 a.a.

Protein Preferred Names	Protein Names
neutrophil cytosol factor 4	NCF-4

NCF4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NCF4	Q15080	NCF1	Homo sapiens	P14598	Fluorescence Spectr	15657040
Intra	NCF4	Q15080	NCF2	Homo sapiens	P19878	X-Ray Diffraction	12887891
Intra	NCF4	Q15080	NCF2	Homo sapiens	P19878	Y2H	11483497
Intra	NCF4	Q15080	NCF2	Homo sapiens	P19878	Anti Bait CoIP	16297854

Cross: Cross-species interaction Intra: Intraspecies interaction

NCF4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83394	NCF4 Antibody (YA3139)	WB, IHC-F, IHC-P, ICC/IF, IP	Human
HY-P83394A	NCF4 Antibody (YA3139)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human

Related Diseases

Diseases	Alias
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
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
Phagocyte Bactericidal Dysfunction	Phagocytic Dysfunction
Corneal Dystrophy, Avellino Type	Avellino Corneal Dystrophy CDA Combined Granular-Lattice Corneal Dystrophy Cgd2 Granular Corneal Dystrophy Type 2 Acd Granular Corneal Dystrophy 2 Corneal Dystrophy Avellino Type Granular Corneal Dystrophy Type Ii Granular Corneal Dystrophy, Type Ii Combined Granular-Lattice Corneal Dystrophies Granular And Lattice Corneal Dystrophies Granular-Lattice Corneal Dystrophy Gcd2 Gcdii Granular-Lattice Corneal Dystrophy
Granular Corneal Dystrophy	Granular Dystrophy Corneal Corneal Dystrophies, Hereditary Hereditary Corneal Dystrophy Corneal Dystrophy Nos Familial Hereditary Corneal Degeneration Hereditary Corneal Opacity
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, 2	Chronic Granulomatous Disease Due To Deficiency Of Ncf-2 CGD2 Ncf2 Deficiency P67-Phox Deficiency Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii Granulomatous Disease, Chronic, Due To Ncf2 Deficiency Neutrophil Cytosol Factor 2 Deficiency Chronic Granulomatous Disease 2, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 2 Cdg2 Deficiency Of Ncf2 Deficiency Of P67-Phox Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii Deficiency Of Neutrophil Cytosol Factor 2 Avellino Corneal Dystrophy
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
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
Lung Abscess	Apical Lung Abscess Abscess Of Lung Abscess Of Lung Nos Pulmonary Abscess Multiple Abscess Of Lung
Epithelial-Stromal Tgfbi Dystrophy
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Familial Intestinal Polyatresia Syndrome Fipa Gastrointestinal Defects And Immunodeficiency Syndrome Multiple Gastrointestinal Atresias Familial Isolated Pituitary Adenoma Intestinal Atresia, Multiple Multiple Intestinal Atresia GIDID1 Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Minat Gidid Meddra:10028210 Familial Isolated Pituitary Adenoma Syndrome Intestinal Atresia Multiple Combined Immunodeficiency-Enteropathy Spectrum Cid-Mia/Early-Onset Ibd Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Mia Gastrointestinal Defect And Immunodeficiency Syndrome Pituitary Adenoma Predisposition Pituitary Adenoma, Familial Isolated
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory

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-RS09079	NCF4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20781	Ncf4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27295	Ncf4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NCF4	RGD	RGD:1593157
Bos taurus	NCF4	VGNC	VGNC:31913
Mus musculus	NCF4	MGD	MGI:109186
Macaca mulatta	NCF4	VGNC	VGNC:75141
Felis catus	NCF4	VGNC	VGNC:68426
Canis familiaris	NCF4	VGNC	VGNC:43651
Others	NCF4	NCBI