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Aliases for NCF1 Gene

Aliases for NCF1 Gene

  • Neutrophil Cytosolic Factor 1 2 3
  • 47 KDa Autosomal Chronic Granulomatous Disease Protein 3 4
  • SH3 And PX Domain-Containing Protein 1A 3 4
  • Neutrophil NADPH Oxidase Factor 1 3 4
  • 47 KDa Neutrophil Oxidase Factor 3 4
  • NADPH Oxidase Organizer 2 2 3
  • Nox-Organizing Protein 2 3 4
  • Nox Organizer 2 3 4
  • SH3PXD1A 3 4
  • P47-Phox 3 4
  • NCF-47K 3 4
  • NCF-1 3 4
  • NOXO2 3 4
  • Neutrophil Cytosolic Factor 1 (47kD, Chronic Granulomatous Disease, Autosomal 1) 2
  • Neutrophil Cytosolic Factor 1, (Chronic Granulomatous Disease, Autosomal 1) 3
  • Chronic Granulomatous Disease 2
  • Autosomal 1 2
  • P47phox 3
  • NCF1A 3

External Ids for NCF1 Gene

Previous GeneCards Identifiers for NCF1 Gene

  • GC07P073118
  • GC07M073970
  • GC07M073985
  • GC07M073986
  • GC07M074018
  • GC07P073826
  • GC07P074188
  • GC07P073521

Summaries for NCF1 Gene

Entrez Gene Summary for NCF1 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 disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for NCF1 Gene

NCF1 (Neutrophil Cytosolic Factor 1) is a Protein Coding gene. Diseases associated with NCF1 include chronic granulomatous disease due to deficiency of ncf-1 and chronic granulomatous disease. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include SH3 domain binding and phosphatidylinositol binding. An important paralog of this gene is SH3PXD2B.

UniProtKB/Swiss-Prot for NCF1 Gene

  • NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Gene Wiki entry for NCF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCF1 Gene

Genomics for NCF1 Gene

Regulatory Elements for NCF1 Gene

Genomic Location for NCF1 Gene

Chromosome:
7
Start:
74,773,962 bp from pter
End:
74,789,376 bp from pter
Size:
15,415 bases
Orientation:
Plus strand

Genomic View for NCF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NCF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NCF1 Gene

Proteins for NCF1 Gene

  • Protein details for NCF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14598-NCF1_HUMAN
    Recommended name:
    Neutrophil cytosol factor 1
    Protein Accession:
    P14598
    Secondary Accessions:
    • A6NEH2
    • A8K7S9
    • O43842
    • Q2PP07
    • Q53FR5
    • Q9BU90
    • Q9BXI7
    • Q9BXI8
    • Q9UDV9
    • Q9UMU2

    Protein attributes for NCF1 Gene

    Size:
    390 amino acids
    Molecular mass:
    44652 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. Interacts (via C-terminus) with NCF2 (via the C-terminal SH3 domain). Interacts with NCF4. Interacts with CYBB. Interacts (via the second SH3 domain) with CYBA. Interacts with NOXA1. Interacts with ADAM15. Interacts with TRAF4. Interacts with FASLG.
    SequenceCaution:
    • Sequence=BAF84783.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG54596.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NCF1 Gene

    Alternative splice isoforms for NCF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCF1 Gene

Proteomics data for NCF1 Gene at MOPED

Post-translational modifications for NCF1 Gene

  • Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NCF1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NCF1 (p47phox)

No data available for DME Specific Peptides for NCF1 Gene

Domains & Families for NCF1 Gene

Suggested Antigen Peptide Sequences for NCF1 Gene

Graphical View of Domain Structure for InterPro Entry

P14598

UniProtKB/Swiss-Prot:

NCF1_HUMAN :
  • The PX domain mediates interaction with phosphatidylinositol 3,4-bisphosphate and other anionic phospholipids. In the autoinhibited, unphosphorylated state an intramolecular interaction with the C-terminal SH3 domain precludes phospholipid binding and interaction with CYBA. Phosphorylation disrupts the autoinhibited state.
Domain:
  • The PX domain mediates interaction with phosphatidylinositol 3,4-bisphosphate and other anionic phospholipids. In the autoinhibited, unphosphorylated state an intramolecular interaction with the C-terminal SH3 domain precludes phospholipid binding and interaction with CYBA. Phosphorylation disrupts the autoinhibited state.
  • Contains 1 PX (phox homology) domain.
  • Contains 2 SH3 domains.
genes like me logo Genes that share domains with NCF1: view

No data available for Gene Families for NCF1 Gene

Function for NCF1 Gene

Molecular function for NCF1 Gene

GENATLAS Biochemistry:
neutrophil cytosolic factor 1 (component of NADPH oxidase system),p47-phox (NCF1),oxygen dependent mechanism of phagocytosis
UniProtKB/Swiss-Prot Function:
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Gene Ontology (GO) - Molecular Function for NCF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11094157
GO:0009055 electron carrier activity TAS 2848318
GO:0016175 superoxide-generating NADPH oxidase activity IMP 2547247
GO:0017124 SH3 domain binding IPI 7938008
GO:0035091 phosphatidylinositol binding IDA 12356722
genes like me logo Genes that share ontologies with NCF1: view
genes like me logo Genes that share phenotypes with NCF1: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NCF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NCF1 Gene

Localization for NCF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NCF1 Gene COMPARTMENTS Subcellular localization image for NCF1 gene
Compartment Confidence
cytosol 3
plasma membrane 3
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NCF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0019898 extrinsic component of membrane IDA 12356722
GO:0032010 phagolysosome TAS --
GO:0043020 NADPH oxidase complex TAS 7938008
genes like me logo Genes that share ontologies with NCF1: view

Pathways & Interactions for NCF1 Gene

genes like me logo Genes that share pathways with NCF1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Inflammatory Response & Autoimmunity 384HT in human,mouse,rat
    • Nitric Oxide Signaling Pathway in human,mouse,rat

SIGNOR curated interactions for NCF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NCF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001878 response to yeast IEA --
GO:0001909 leukocyte mediated cytotoxicity --
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:0002679 respiratory burst involved in defense response IEA --
genes like me logo Genes that share ontologies with NCF1: view

Drugs & Compounds for NCF1 Gene

(1) Drugs for NCF1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 113

(1) Additional Compounds for NCF1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with NCF1: view

Transcripts for NCF1 Gene

mRNA/cDNA for NCF1 Gene

(7) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NCF1 Gene

Neutrophil cytosolic factor 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NCF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^
SP1: - - - - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - - - - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - -
SP10: - - -
SP11: - -
SP12:

ExUns: 14 ^ 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for NCF1 Gene

GeneLoc Exon Structure for
NCF1
ECgene alternative splicing isoforms for
NCF1

Expression for NCF1 Gene

mRNA expression in normal human tissues for NCF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCF1 Gene

This gene is overexpressed in Whole Blood (x34.2).

Protein differential expression in normal tissues from HIPED for NCF1 Gene

This gene is overexpressed in Spleen (32.0), Monocytes (30.3), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NCF1 Gene



SOURCE GeneReport for Unigene cluster for NCF1 Gene Hs.647047

mRNA Expression by UniProt/SwissProt for NCF1 Gene

P14598-NCF1_HUMAN
Tissue specificity: Detected in peripheral blood monocytes and neutrophils (at protein level).
genes like me logo Genes that share expression patterns with NCF1: view

Protein tissue co-expression partners for NCF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for NCF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NCF1 35
  • 86.98 (n)
  • 86.89 (a)
NCF1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NCF1 35
  • 86.41 (n)
  • 87.18 (a)
NCF1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ncf1 35
  • 81.45 (n)
  • 83.08 (a)
Ncf1 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NCF1 35
  • 99.4 (n)
  • 99.74 (a)
NCF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ncf1 35
  • 80.84 (n)
  • 82.73 (a)
oppossum
(Monodelphis domestica)
Mammalia NCF1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 45 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves NCF1 35
  • 71.26 (n)
  • 67.53 (a)
NCF1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NCF1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ncf1 35
  • 63.1 (n)
  • 64.49 (a)
zebrafish
(Danio rerio)
Actinopterygii ncf1 35
  • 62.66 (n)
  • 58.49 (a)
ncf1 36
  • 53 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToMany
Species with no ortholog for NCF1:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NCF1 Gene

ENSEMBL:
Gene Tree for NCF1 (if available)
TreeFam:
Gene Tree for NCF1 (if available)

Paralogs for NCF1 Gene

Paralogs for NCF1 Gene

(8) SIMAP similar genes for NCF1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for NCF1 Gene

genes like me logo Genes that share paralogs with NCF1: view

Variants for NCF1 Gene

Sequence variations from dbSNP and Humsavar for NCF1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
VAR_018479 -
VAR_018476 -
VAR_014735 -
VAR_012480 -
VAR_012479 -

Structural Variations from Database of Genomic Variants (DGV) for NCF1 Gene

Variant ID Type Subtype PubMed ID
dgv2100e1 CNV Complex 17122850
nsv888380 CNV Loss 21882294
essv21300 CNV CNV 17122850
nsv888381 CNV Gain 21882294
nsv509208 CNV Insertion 20534489
nsv8142 CNV Gain 18304495
nsv482102 CNV Gain 20164927

Variation tolerance for NCF1 Gene

Gene Damage Index Score: 1.23; 24.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NCF1 Gene

HapMap Linkage Disequilibrium report
NCF1
Human Gene Mutation Database (HGMD)
NCF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCF1 Gene

Disorders for NCF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NCF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease due to deficiency of ncf-1
  • chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type i
chronic granulomatous disease
  • quie syndrome
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
- elite association
Search NCF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NCF1_HUMAN
  • Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1) [MIM:233700]: 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:11133775, ECO:0000269 PubMed:23910690}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NCF1 Gene

chronic granulomatous disease,autosomal common form

Relevant External Links for NCF1

Genetic Association Database (GAD)
NCF1
Human Genome Epidemiology (HuGE) Navigator
NCF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NCF1
genes like me logo Genes that share disorders with NCF1: view

Publications for NCF1 Gene

  1. TLR8, but not TLR7, induces the priming of the NADPH oxidase activation in human neutrophils. (PMID: 25877926) Makni-Maalej K. … El-Benna J. (J. Leukoc. Biol. 2015) 67
  2. Eupafolin inhibits PGE2 production and COX2 expression in LPS-stimulated human dermal fibroblasts by blocking JNK/AP-1 and Nox2/p47(phox) pathway. (PMID: 24967690) Tsai M.H. … Lee C.W. (Toxicol. Appl. Pharmacol. 2014) 67
  3. Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1. (PMID: 24126171) Kozel B.A. … Pober B.R. (Hypertension 2014) 67
  4. Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds. (PMID: 24596025) Baba L.A. … Bousfiha A.A. (J. Clin. Immunol. 2014) 67
  5. Assessment of Atherosclerosis in Chronic Granulomatous Disease. (PMID: 25239440) Sibley C.T. … Gallin J.I. (Circulation 2014) 67

Products for NCF1 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Inflammatory Response & Autoimmunity 384HT in human,mouse,rat
    • Nitric Oxide Signaling Pathway in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NCF1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NCF1
    • Block miRNA regulation of NCF1 using miScript Target Protectors

    Sources for NCF1 Gene

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