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NCF1 Gene

protein-coding   GIFtS: 65
GCID: GC07P074188

Neutrophil Cytosolic Factor 1

(Previous names: neutrophil cytosolic factor 1 (47kD, chronic granulomatous...)
  See NCF1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

Aliases
Neutrophil Cytosolic Factor 11 2     SH3PXD1A2 3
NADPH Oxidase Organizer 21 2     p47-phox2 3
Neutrophil NADPH Oxidase Factor 12 3     SH3 And PX Domain-Containing Protein 1A2 3
Nox Organizer 22 3     Autosomal 11
Nox-Organizing Protein 22 3     Chronic Granulomatous Disease1
47 KDa Autosomal Chronic Granulomatous Disease Protein2 3     Neutrophil Cytosolic Factor 1 (47kD, Chronic Granulomatous Disease,
Autosomal 1)1
47 KDa Neutrophil Oxidase Factor2 3     NCF1A2
NCF-12 3     Neutrophil Cytosol Factor 12
NCF-47K2 3     Neutrophil Cytosolic Factor 1, (Chronic Granulomatous Disease, Autosomal
1)2
NOXO22 3     p47phox2

External Ids:    HGNC: 76601   Entrez Gene: 6533612   Ensembl: ENSG000001585177   OMIM: 6085125   UniProtKB: P145983   
ORGUL members:    fRNAdb10:FR303010      
H-InvDB12:HIT000218777    
NCBI13:U25793    
RNAdb15:HIV1948    

Export aliases for NCF1 gene to outside databases

Previous GC identifers: GC07P073118 GC07M073970 GC07M073985 GC07M073986 GC07M074018 GC07P073826 GC07P073521


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, autosomal recessive, cytochrome b-positive, type i. GO annotations related to this gene include electron carrier activity and GTP binding. An important paralog of this gene is SH3PXD2B.

UniProtKB/Swiss-Prot: NCF1_HUMAN, P14598
Function: 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 (Neutrophil cytosolic factor 1) Gene

fRNAdb sequence ontology for NCF1:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for NCF1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NCF1 gene promoter:
         p53   LCR-F1   NF-kappaB   MEF-2A   c-Rel   PPAR-gamma1   aMEF-2   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NCF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

NCF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P074188:  view genomic region     (about GC identifiers)

Start:
74,188,309 bp from pter      End:
74,203,659 bp from pter
Size:
15,351 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 73,521,373-73,536,723     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NCF1_HUMAN, P14598 (See protein sequence)
Recommended Name: Neutrophil cytosol factor 1  
Size: 390 amino acids; 44652 Da
Subunit: 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
Sequence caution: Sequence=BAF84783.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG54596.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for NCF1 (see all 9):
1GD5 (3D)        1K4U (3D)        1KQ6 (3D)        1NG2 (3D)        1O7K (3D)        1OV3 (3D)    
Secondary accessions: A6NEH2 A8K7S9 O43842 Q2PP07 Q53FR5 Q9BU90 Q9BXI7 Q9BXI8 Q9UDV9 Q9UMU2
Alternative splicing: 2 isoforms:  P14598-1   P14598-2   (Due to intron retention)

Explore the universe of human proteins at neXtProt for NCF1: NX_P14598

Explore proteomics data for NCF1 at MOPED

Post-translational modifications: 

  • Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NCF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000256.4  
    ENSEMBL proteins: 
     ENSP00000289473   ENSP00000392870   ENSP00000401935  
    Reactome Protein details: P14598

    NCF1 Human Recombinant Protein Products:

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    OriGene Purified Protein for NCF1
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    OriGene MassSpec for NCF1
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    Novus Biologicals NCF1 Proteins
    Novus Biologicals NCF1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for NCF1
    Cloud-Clone Corp. Proteins for NCF1

     
    Search eBioscience for Proteins for NCF1 

    NCF1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NCF1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for NCF1  (p47phox)
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    Novus Biologicals NCF1 Antibodies
    Abcam antibodies for NCF1
    Cloud-Clone Corp. Antibodies for NCF1
    ThermoFisher Antibodies for NCF1
    LSBio Antibodies in human, mouse, rat for NCF1

    NCF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NCF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NCF1
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    Search eBioscience for ELISAs for NCF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015039 NADPH_oxidase_p47Phox_C
     IPR001683 Phox
     IPR001452 SH3_domain
     IPR001655 P47PHOX

    Graphical View of Domain Structure for InterPro Entry P14598

    ProtoNet protein and cluster: P14598

    3 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001655 Neutrophil cytosol factor 1 signature
    IPB001683 Phox-like


    UniProtKB/Swiss-Prot: NCF1_HUMAN, P14598
    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
    Similarity: Contains 1 PX (phox homology) domain
    Similarity: Contains 2 SH3 domains


    Find genes that share domains with NCF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NCF1_HUMAN, P14598
    Function: NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase
    (necessary for superoxide production)

         Genatlas biochemistry entry for NCF1:
    neutrophil cytosolic factor 1 (component of NADPH oxidase system),p47-phox (NCF1),oxygen dependent mechanism of
    phagocytosis

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11094157
    GO:0009055electron carrier activity TAS2848318
    GO:0016175superoxide-generating NADPH oxidase activity IMP2547247
    GO:0017124SH3 domain binding IPI7938008
    GO:0035091phosphatidylinositol binding IDA12356722
         
    Find genes that share ontologies with NCF1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NCF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NCF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NCF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NCF1

    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NCF1

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for NCF1 (see all 6)
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    GenScript: all cDNA clones in your preferred vector: NCF1 (NM_000265)
    Sino Biological Human cDNA Clone for NCF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCF1
    Addgene plasmids for NCF1 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NCF1_HUMAN, P14598: Cytoplasm, cytosol. Membrane; Peripheral membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    lysosome4
    plasma membrane4
    vacuole4
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----

    Find genes that share ontologies with NCF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NCF1 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Akt Signaling
    Akt Signaling0.60
    2PAK Pathway
    Antioxidant Action of Vitamin-C0.56
    3Immune response CCR3 signaling in eosinophils
    Immune response CCR3 signaling in eosinophils0.51
    4Inhibitory action of Lipoxins on Superoxide production in neutrophils
    Inhibitory action of Lipoxins on Superoxide production in neutrophils0.48
    5fMLP Pathway
    fMLP Pathway0.43


    Find genes that share SuperPaths with NCF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NCF1
        Antioxidant Action of Vitamin-C
    Akt Signaling
    Transendothelial Migration of Leukocytes
    fMLP Pathway

    1 Cell Signaling Technology (CST) Pathway for NCF1
        Lymphocyte Signaling

    4 GeneGo (Thomson Reuters) Pathways for NCF1
        G-protein signaling Rac2 regulation pathway
    Inhibitory action of Lipoxins on Superoxide production in neutrophils
    G-protein signaling RAC1 in cellular process
    Immune response CCR3 signaling in eosinophils

    2 BioSystems Pathways for NCF1
        AGE/RAGE pathway
    RAC1 signaling pathway


    2 Reactome Pathways for NCF1
        Cross-presentation of particulate exogenous antigens (phagosomes)
    Phagosomal maturation (early endosomal stage)


    Selected Kegg Pathways  (Kegg details for NCF1) (see all 6):
        Chemokine signaling pathway
    Phagosome
    Osteoclast differentiation
    Fc gamma R-mediated phagocytosis
    Leukocyte transendothelial migration

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NCF1: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NCF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NCF1 (P145981, 2, 3 ENSP000002894734) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF2P198781, 2, 3, ENSP000003565054EBI-395044,EBI-489611 MINT-7211525 MINT-7300396 MINT-7300380 MINT-7232210 MINT-25105 MINT-7135180 MINT-7211565 MINT-7211516 MINT-7135281 MINT-7211545 MINT-7211507 MINT-7135323 I2D: score=3 STRING: ENSP00000356505
    ACTBP607091, 2, 3, ENSP000003499604EBI-395044,EBI-353944 MINT-74861 MINT-74862 MINT-74863 I2D: score=3 STRING: ENSP00000349960
    NCF4Q150801, 2, 3EBI-395044,EBI-1036870 MINT-7300344 MINT-7135281 MINT-7300360 I2D: score=3 
    PRKCBP057712, 3, ENSP000003053554MINT-3973521 MINT-3973501 I2D: score=2 STRING: ENSP00000305355
    ABI1Q8IZP01, 3, ENSP000003653124EBI-395044,EBI-375446 I2D: score=5 STRING: ENSP00000365312
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001878response to yeast IEA--
    GO:0001909leukocyte mediated cytotoxicity ----
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0002679respiratory burst involved in defense response IEA--

    Find genes that share ontologies with NCF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NCF1

    1 HMDB Compound for NCF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    1 fRNAdb Secondary structure:


    REFSEQ mRNAs for NCF1 gene: 
    NM_000265.5  

    Unigene Cluster for NCF1:

    Neutrophil cytosolic factor 1
    Hs.647047  [show with all ESTs]
    Unigene Representative Sequence: BC002816
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000289473(uc003ubb.3) ENST00000438106 ENST00000433458 ENST00000449343
    ENST00000398421(uc010lbs.1 uc011kfh.1) ENST00000455062 ENST00000443956
    ENST00000442021 ENST00000464878 ENST00000488197 ENST00000486097
    miRNA
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    GenScript: all cDNA clones in your preferred vector: NCF1 (NM_000265)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NCF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCF1
    Addgene plasmids for NCF1 
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NCF1
      QuantiTect SYBR Green Assays in human, mouse, rat NCF1
      QuantiFast Probe-based Assays in human, mouse, rat NCF1

    Additional mRNA sequence: 

    AF330625.1 AF330626.1 AF330627.1 AK223217.1 AK316552.1 BC002816.2 BC065731.1 BC071711.1 
    BC094845.1 M25665.1 M55067.1 

    20 DOTS entries:

    DT.95329092  DT.92440157  DT.102840657  DT.40245440  DT.95329095  DT.92440156  DT.101982114  DT.450452 
    DT.121042084  DT.99981388  DT.100815103  DT.121057774  DT.121058296  DT.95096374  DT.95329084  DT.97822017 
    DT.100815106  DT.121042206  DT.121057758  DT.99968821 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NCF1 (see all 12)    About this scheme

    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:                                                  -           -                                                                                             

    ExUns: 14 ^ 15
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for NCF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    NCF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCTGCAAA
    NCF1 Expression
    About this image


    NCF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Monocytes Peripheral Blood
    NCF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647047

    UniProtKB/Swiss-Prot: NCF1_HUMAN, P14598
    Tissue specificity: Detected in peripheral blood monocytes and neutrophils (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NCF1: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NCF1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ncf11 neutrophil cytosolic factor 1 81.45(n)
    83.08(a)
      17969  NM_001286037.1  NP_001272966.1 
    chicken
    (Gallus gallus)
    Aves NCF11 neutrophil cytosolic factor 1 71.26(n)
    67.53(a)
      417485  NM_001030709.1  NP_001025880.1 
    lizard
    (Anolis carolinensis)
    Reptilia NCF16
    neutrophil cytosolic factor 1
    74(a)
    1 ↔ 1
    AAWZ02040584(39-6712)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ncf11 neutrophil cytosolic factor 1 63.1(n)
    64.49(a)
      100124318  NM_001112904.1  NP_001106375.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ncf11 neutrophil cytosolic factor 1 62.66(n)
    58.49(a)
      378966  NM_001030071.2  NP_001025242.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NCF1 gene
    SH3PXD2B2  NOXO12  SH3PXD2A2  
    8 SIMAP similar genes for NCF1 using alignment to 3 protein entries:     NCF1_HUMAN (see all proteins):
    NCF1B    NCF1C    RHBDD3    L3MBTL2    ABCG5    FANCD2OS
    SH3PXD2A    SH3PXD2B

    Find genes that share paralogs with NCF1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NCF1
    PGOHUM00000258289


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NCF1 (see all 121)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0124764
    Granulomatous disease, chronic, cytochrome-b-positive 1, autosomal recessive (CGD1)4--see VAR_0124762 R Q mis40--------
    rs2017898171,2
    C--73529155(+) CAGGC-/TGGTCT 1 -- int10--------
    rs16374151,2
    C,F--74190237(+) caccaT/Cgccca 1 -- int11Minor allele frequency- C:0.03WA 118
    rs780311461,2
    C--74193378(+) AAGTGC/TTGTAA 1 -- int10--------
    rs172957411,2
    C--74193668(-) CGTGCT/CGCAGT 2 /S /G mis12Minor allele frequency- C:0.31MN NA 186
    rs173561001,2
    F--74193718(-) AAGTCA/GAGGAG 2 L syn11Minor allele frequency- G:0.41MN 184
    rs174154141,2
    --74202352(+) TACTTC/TCCGTC 2 F syn1 ese30--------
    rs778750671,2
    C--74203877(+) TGCTTA/GGACTC 1 -- ds50010--------
    rs3683587261,2
    C--77708714(+) AAGAGC/TGAAAC 1 -- us2k10--------
    rs2006556301,2
    C--77709599(+) TAATT-/AAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NCF1 (74188309 - 74203659 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NCF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509208CNV Insertion20534489
    nsv888380CNV Loss21882294
    nsv482102CNV Gain20164927
    nsv8142CNV Gain18304495
    nsv888381CNV Gain21882294
    essv21300CNV CNV17122850
    dgv2100e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): NCF1
    Locus Specific Mutation Databases (LSDB): NCF1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608512OMIM information: 141400 605635    
    OMIM disorders: 233700  
    UniProtKB/Swiss-Prot: NCF1_HUMAN, P14598
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for NCF1:    
    About MalaCards
    chronic granulomatous disease due to deficiency of ncf-1    chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type i    chronic granulomatous disease    chronic granulomatous disease, autosomal, due to deficiency of cyba
    idiopathic pulmonary fibrosis

    2 diseases from the University of Copenhagen DISEASES database for NCF1:
    Chronic granulomatous disease     Arthritis

    Find genes that share disorders with NCF1           About GenesLikeMe

    Genatlas disease: NCF1
    chronic granulomatous disease,autosomal common form

    Genetic Association Database (GAD): NCF1
    Human Genome Epidemiology (HuGE) Navigator: NCF1 (2 documents)

    Export disorders for NCF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NCF1 gene, integrated from 10 sources (see all 133):
    (articles sorted by number of sources associating them with NCF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. (PubMed id 19410294)1, 4 Di Matteo G....Martire B. (Mol. Immunol. 2009)
    2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    3. NCF1 gene and pseudogene pattern: association with parasitic infection and autoimmunity. (PubMed id 19077231)1, 4 Greve B....Kremsner P.G. (Malar. J. 2008)
    4. [The relationship of P47phox C923T (Ala308Val) polymorphism to cerebral infarction and its effect on plasma lipid levels]. (PubMed id 17925180)1, 4 Huang X.S....Huang Q. (Zhonghua Yi Xue Za Zhi 2007)
    5. [The relationship between the exon 10 of the p47(phox) polymorphism and stroke and the effect of the polymorphism on plasma lipid]. (PubMed id 17922419)1, 4 Huang X.S....Zhu X.Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007)
    6. Genetic polymorphisms and susceptibility to lung disease. (PubMed id 16608528)1, 4 Lee P.L....Wang L. (J Negat Results Biomed 2006)
    7. NMR solution structure of the tandem Src homology 3 domains of p47phox complexed with a p22phox-derived proline-rich peptide. (PubMed id 16326715)1, 2 Ogura K....Inagaki F. (J. Biol. Chem. 2006)
    8. TRAF4 acts as a silencer in TLR-mediated signaling through the association with TRAF6 and TRIF. (PubMed id 16052631)1, 2 Takeshita F.... Suzuki K. (Eur. J. Immunol. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 653361 HGNC: 7660 Ensembl:ENSG00000158517 euGenes: HUgn653361 ECgene: NCF1 Kegg: 653361
    H-InvDB: NCF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NCF1 Pharmacogenomics, SNPs, Pathways
    NCF1basehttp://bioinf.uta.fi/NCF1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NCF1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NCF1 gene:
    Search GeneIP for patents involving NCF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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