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Aliases for NCF4 Gene

Aliases for NCF4 Gene

  • Neutrophil Cytosolic Factor 4, 40kDa 2 3
  • Neutrophil NADPH Oxidase Factor 4 2 3 4
  • P40PHOX 3 4 6
  • SH3 And PX Domain-Containing Protein 4 3 4
  • P40-Phox 3 4
  • SH3PXD4 3 4
  • NCF-4 3 4
  • Neutrophil Cytosolic Factor 4 (40kD) 2
  • Neutrophil Cytosol Factor 4 3
  • NCF 3

External Ids for NCF4 Gene

Summaries for NCF4 Gene

Entrez Gene Summary for NCF4 Gene

  • 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]

GeneCards Summary for NCF4 Gene

NCF4 (Neutrophil Cytosolic Factor 4, 40kDa) is a Protein Coding gene. Diseases associated with NCF4 include granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii and chronic granulomatous disease. Among its related pathways are Disease and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include protein dimerization activity and phosphatidylinositol binding.

UniProtKB/Swiss-Prot for NCF4 Gene

  • Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex.

Gene Wiki entry for NCF4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCF4 Gene

Genomics for NCF4 Gene

Genomic Location for NCF4 Gene

Start:
36,860,988 bp from pter
End:
36,878,017 bp from pter
Size:
17,030 bases
Orientation:
Plus strand

Genomic View for NCF4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NCF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCF4 Gene

Regulatory Elements for NCF4 Gene

Proteins for NCF4 Gene

  • Protein details for NCF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15080-NCF4_HUMAN
    Recommended name:
    Neutrophil cytosol factor 4
    Protein Accession:
    Q15080
    Secondary Accessions:
    • A8K4F9
    • O60808
    • Q86U56
    • Q9BU98
    • Q9NP45

    Protein attributes for NCF4 Gene

    Size:
    339 amino acids
    Molecular mass:
    39032 Da
    Quaternary structure:
    • Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. NCF4 interacts primarily with NCF2 to form a complex with NCF1.

    Three dimensional structures from OCA and Proteopedia for NCF4 Gene

    Alternative splice isoforms for NCF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCF4 Gene

Proteomics data for NCF4 Gene at MOPED

Post-translational modifications for NCF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NCF4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NCF4 Gene

Domains for NCF4 Gene

Graphical View of Domain Structure for InterPro Entry

Q15080

UniProtKB/Swiss-Prot:

NCF4_HUMAN
Domain:
  • The PB1 domain mediates the association with NCF2/p67-PHOX:
    • Q15080
  • The PX domain mediates interaction with membranes enriched in phosphatidylnositol 3-phosphate:
    • Q15080
  • Contains 1 PB1 domain.:
    • Q15080
  • Contains 1 PX (phox homology) domain.:
    • Q15080
  • Contains 1 SH3 domain.:
    • Q15080
genes like me logo Genes that share domains with NCF4: view

No data available for Gene Families for NCF4 Gene

Function for NCF4 Gene

Molecular function for NCF4 Gene

GENATLAS Biochemistry: neutrophil cytosolic factor 4 (component of NADPH oxidase system),p40-phox,oxygen dependent mechanism of phagocytosis
UniProtKB/Swiss-Prot Function: Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex.

Gene Ontology (GO) - Molecular Function for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11483497
GO:0016176 superoxide-generating NADPH oxidase activator activity IMP 8280052
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 11684018
GO:0035091 phosphatidylinositol binding --
GO:0046983 protein dimerization activity TAS 8280052
genes like me logo Genes that share ontologies with NCF4: view

Phenotypes for NCF4 Gene

genes like me logo Genes that share phenotypes with NCF4: view

miRNA for NCF4 Gene

miRTarBase miRNAs that target NCF4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for NCF4 Gene

Localization for NCF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF4 Gene

Cytoplasm, cytosol. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NCF4 Gene COMPARTMENTS Subcellular localization image for NCF4 gene
Compartment Confidence
cytosol 5
plasma membrane 5
lysosome 4
vacuole 4
nucleus 3

Gene Ontology (GO) - Cellular Components for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0010008 endosome membrane IDA 11684018
GO:0016020 membrane IDA 8280052
GO:0032010 phagolysosome TAS --
genes like me logo Genes that share ontologies with NCF4: view

Pathways for NCF4 Gene

genes like me logo Genes that share pathways with NCF4: view

Gene Ontology (GO) - Biological Process for NCF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006955 immune response TAS 8280052
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I TAS --
genes like me logo Genes that share ontologies with NCF4: view

Compounds for NCF4 Gene

(1) HMDB Compounds for NCF4 Gene

Compound Synonyms Cas Number PubMed IDs
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(14) Novoseek inferred chemical compound relationships for NCF4 Gene

Compound -log(P) Hits PubMed IDs
nadph 88 63
phosphatidylinositol 3-phosphate 81.6 11
superoxide 68.2 14
oxygen 44.6 3
proline 40.8 4

(1) PharmGKB related drug/compound annotations for NCF4 Gene

Drug/compound Annotation
doxorubicin CA
genes like me logo Genes that share compounds with NCF4: view

Transcripts for NCF4 Gene

Unigene Clusters for NCF4 Gene

Neutrophil cytosolic factor 4, 40kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NCF4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2:
SP3: -

Relevant External Links for NCF4 Gene

GeneLoc Exon Structure for
NCF4
ECgene alternative splicing isoforms for
NCF4

Expression for NCF4 Gene

mRNA expression in normal human tissues for NCF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCF4 Gene

This gene is overexpressed in Whole Blood (37.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NCF4 Gene

SOURCE GeneReport for Unigene cluster for NCF4 Gene Hs.474781

mRNA Expression by UniProt/SwissProt for NCF4 Gene

Q15080-NCF4_HUMAN
Tissue specificity: Expression is restricted to hematopoietic cells
genes like me logo Genes that share expressions with NCF4: view

Orthologs for NCF4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCF4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NCF4 35
  • 91.77 (n)
  • 90.31 (a)
cow
(Bos Taurus)
Mammalia NCF4 35
  • 86.73 (n)
  • 89.68 (a)
NCF4 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCF4 35
  • 89.09 (n)
  • 89.97 (a)
NCF4 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ncf4 35
  • 84.07 (n)
  • 86.73 (a)
Ncf4 16
Ncf4 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NCF4 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NCF4 36
  • 31 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ncf4 35
  • 84.46 (n)
  • 87.32 (a)
chicken
(Gallus gallus)
Aves NCF4 35
  • 68.93 (n)
  • 67.85 (a)
NCF4 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCF4 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncf4 35
  • 57.88 (n)
  • 54.19 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.699 35
zebrafish
(Danio rerio)
Actinopterygii Dr.12333 35
ncf4 35
  • 61.38 (n)
  • 58.68 (a)
ncf4 36
  • 45 (a)
OneToOne
Species with no ortholog for NCF4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NCF4 Gene

ENSEMBL:
Gene Tree for NCF4 (if available)
TreeFam:
Gene Tree for NCF4 (if available)

Paralogs for NCF4 Gene

Selected SIMAP similar genes for NCF4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NCF4: view

No data available for Paralogs for NCF4 Gene

Variants for NCF4 Gene

Sequence variations from dbSNP and Humsavar for NCF4 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs1858 -- 36,877,763(+) CTCTT(C/T)CCCTG reference, synonymous-codon, utr-variant-3-prime
rs729749 -- 36,867,804(+) TGTCC(C/T)ATGGG intron-variant
rs738148 -- 36,874,460(+) AGTTT(A/G)GCAGT intron-variant
rs741997 -- 36,862,771(+) TTTCT(A/G)GAACC intron-variant
rs741998 -- 36,862,802(+) ATGGG(A/G)AGGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NCF4 Gene

Variant ID Type Subtype PubMed ID
dgv1405e1 CNV Complex 17122850
nsv3619 CNV Insertion 18451855
nsv459881 CNV Loss 19166990
nsv915009 CNV Gain 21882294
esv2724203 CNV Deletion 23290073
esv2724204 CNV Deletion 23290073
esv2724205 CNV Deletion 23290073

Relevant External Links for NCF4 Gene

HapMap Linkage Disequilibrium report
NCF4
Human Gene Mutation Database (HGMD)
NCF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCF4 Gene

Disorders for NCF4 Gene

(1) OMIM Diseases for NCF4 Gene (601488)

UniProtKB/Swiss-Prot

NCF4_HUMAN
  • Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) [MIM:613960]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. {ECO:0000269 PubMed:19692703}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NCF4 Gene

(1) Novoseek inferred disease relationships for NCF4 Gene

Disease -log(P) Hits PubMed IDs
granulomatous disease chronic 84.1 4

Relevant External Links for NCF4

Genetic Association Database (GAD)
NCF4
Human Genome Epidemiology (HuGE) Navigator
NCF4
genes like me logo Genes that share disorders with NCF4: view

Publications for NCF4 Gene

  1. Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complex. (PMID: 8839867) Zhan S. … Chanock S.J. (Blood 1996) 2 3 4 23
  2. p40phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. (PMID: 8280052) Wientjes F.B. … Segal A.W. (Biochem. J. 1993) 3 4 23
  3. p40(phox) is phosphorylated on threonine 154 and serine 315 during activation of the phagocyte NADPH oxidase. Implication of a protein kinase c-type kinase in the phosphorylation process. (PMID: 9804763) Bouin A.-P. … Fuchs A. (J. Biol. Chem. 1998) 3 4 23
  4. Identification of a splice variant mRNA of p40phox, an NADPH oxidase component of phagocytes. (PMID: 10437784) Hasebe T. … Nagaoka I. (FEBS Lett. 1999) 3 4 23
  5. Effects of p47phox C terminus phosphorylations on binding interactions with p40phox and p67phox. Structural and functional comparison of p40phox and p67phox SH3 domains. (PMID: 15657040) Massenet C. … Fieschi F. (J. Biol. Chem. 2005) 3 4 23

Products for NCF4 Gene

  • Addgene plasmids for NCF4

Sources for NCF4 Gene

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