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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NCF1 Gene

protein-coding   GIFtS: 62
GCID: GC07P074188

neutrophil cytosolic factor 1

(Previous names: neutrophil cytosolic factor 1 (47kD, chronic granulomatous...)
 Explore 18 diseases affiliated with
NCF1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NCF1    

Aliases
for NCF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Neutrophil Cytosolic Factor 11 2     47 KDa Neutrophil Oxidase Factor2 3
NOXO21 2 3     NCF-12 3
SH3PXD1A1 2 3     NCF-47K2 3
NCF1A1 2     P47-Phox1
P47phox1     SH3 And PX Domain-Containing Protein 1A2 3
Neutrophil NADPH Oxidase Factor 12 3     Neutrophil Cytosolic Factor 1 (47kD, Chronic Granulomatous Disease, Autosomal
1)1
Nox Organizer 22 3     NADPH Oxidase Organizer 22
Nox-Organizing Protein 22 3     Neutrophil Cytosol Factor 12
47 KDa Autosomal Chronic Granulomatous Disease Protein2 3     Neutrophil Cytosolic Factor 1, (Chronic Granulomatous Disease, Autosomal 1)2

External Ids:    HGNC: 76601   Entrez Gene: 6533612   Ensembl: ENSG000001585177   OMIM: 6085125   UniProtKB: P145983   

Export aliases for NCF1 gene to outside databases

Previous GC identifers: GC07P073118 GC07M073970 GC07M073985 GC07M073986 GC07M074018 GC07P073826 GC07P073521


Summaries
for NCF1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NCF1:
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)

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)


Genomic Views
for NCF1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079593.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NCF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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     

Proteins
for NCF1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NCF1_HUMAN, P14598 (See protein sequence)
Recommended Name: Neutrophil cytosol factor 1  
Size: 390 amino acids; 44652 Da
Subunit: Interacts with NOXA1. Interacts with ADAM15. Interacts with TRAF4. Interacts with FASLG
Subcellular location: Cytoplasm
Sequence caution: Sequence=BAF84783.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG54596.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/9 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

Post-translational modifications:

  • Phosphorylated by PRKCD; phosphorylation induces activation of NCF1 and NADPH oxidase activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P14598

    • NCF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000256.3  
    ENSEMBL proteins: 
     ENSP00000289473   ENSP00000392870   ENSP00000401935  
    Reactome Protein details: P14598
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for NCF1
    Uscn Proteins for NCF1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0032010phagolysosome TAS--
    GO:0043020NADPH oxidase complex TAS7938008


    NCF1 for ontologies           About GeneDecksing



    NCF1 Antibody Products: 
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    Uscn ELISAs and CLIAs for NCF1

    Protein Domains /
    Families
    for NCF1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NCF1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015039 NADPH_oxidase_p47Phox_C
     IPR001655 P47PHOX
     IPR001683 Phox
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry P14598

    ProtoNet protein and cluster: P14598

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


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


    Function
    for NCF1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

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

    miRNA
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    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NCF1
    OriGene shRNA RFP: NCF1
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NCF1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NCF1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NCF1 

    Cell Line
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    Search LifeMap BioReagents cell lines for NCF1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS2547247
    GO:0005515protein binding IPI11733522
    GO:0005525GTP binding TAS2848318
    GO:0009055electron carrier activity TAS2848318
    GO:0016175superoxide-generating NADPH oxidase activity IEA--


    NCF1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for NCF1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/22 super-pathways (see all 22) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-protein signaling_RAC1 in cellular process
    		G-protein signaling RAC1 in cellular process1.00
    		RAC1 signaling pathway0.34
    		G-protein signaling_RAC1 in cellular process1.00
    2Immune response _CCR3 signaling in eosinophils
    		Immune response _CCR3 signaling in eosinophils1.00
    		Immune response CCR3 signaling in eosinophils1.00
    3Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    4Insulin receptor recycling
    		Phagosomal maturation (early endosomal stage)0.64
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    5G-protein signaling Regulation of RAC1 activity
    		G-protein signaling Rac2 regulation pathway0.16
    		G-protein signaling_Rac2 regulation pathway0.16

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for NCF1
        G-protein signaling RAC1 in cellular process
    G-protein signaling Rac2 regulation pathway
    Immune response CCR3 signaling in eosinophils

    4 Downloadable PowerPoint Slides of QIAGEN 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

    5/8        Reactome Pathways for NCF1 (see all 8)
        Cross-presentation of particulate exogenous antigens (phagosomes)
    Phagosomal maturation (early endosomal stage)
    Antigen processing-Cross presentation
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Adaptive Immune System


    5/6         Kegg Pathways  (Kegg details for NCF1) (see all 6):
        Chemokine signaling pathway
    Phagosome
    Osteoclast differentiation
    Fc gamma R-mediated phagocytosis
    Leukocyte transendothelial migration


    NCF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NCF1

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

    5/48 Interacting proteins for NCF1 (P145981, 2, 3 ENSP000002894734) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCF2P198782, 3, ENSP000003565054MINT-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
    ACTBP607092, 3, ENSP000003499604MINT-74861 MINT-74862 MINT-74863 I2D: score=3 STRING: ENSP00000349960
    NCF4Q150802, 3MINT-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): 5/27 biological process terms (GO ID links to tree view) (see all 27):    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--


    NCF1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NCF1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    Search CenterWatch for drugs/clinical trials and news about NCF1 

    Transcripts
    for NCF1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NCF1 gene: 
    NM_000265.4  

    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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    Clone
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    Additional cDNA 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

    5/12 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

    Expression
    for NCF1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NCF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCTGCAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NCF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NCF1

    SOURCE GeneReport for Unigene cluster: Hs.647047
        SABiosciences Expression via Pathway-Focused 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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    In Situ
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    Orthologs
    for NCF1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for NCF1 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NCF11 neutrophil cytosolic factor 1 70.81(n)
    66.58(a)    		   417485  NM_001030709.1  NP_001025880.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NCF16
    		 --
    		 74(a)
    		 1 ↔ 1
    		 AAWZ02040584(726-6615)
    zebrafish
    (Danio rerio)    		 Actinopterygii ncf11 neutrophil cytosolic factor 1 61.67(n)
    57.11(a)    		   378966  NM_001030071.1  NP_001025242.1 


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

    Paralogs
    for NCF1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NCF1 gene
    SH3PXD2B2  SH3PXD2A2  NOXO12  
    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

    NCF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NCF1
    PGOHUM00000258289


    Genomic Variants
    for NCF1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/78 NCBI SNPs in NCF1 are shown (see all 78)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs16374151,2
    		F,--73523301(+) caccaT/Cgccca 1 -- int11Minor allele frequency- C:0.03WA 118
    rs780311461,2
    		C--73526442(+) AAGTGC/TTGTAA 1 -- int10--------
    rs25292971,2
    		H--73529424(+) agccAA/TTACTA 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs778750671,2
    		C--73536941(+) TGCTTA/GGACTC 1 -- ds50010--------
    rs1400348071,2
    		--74190228(+) GGTGCA/GCGCCA 1 -- int10--------
    rs1380541881,2
    		--74190229(+) GTGCGC/TGCCAC 1 -- int10--------
    rs1443726151,2
    		--74190230(+) TGCGCA/GCCACC 1 -- int10--------
    rs29062811,2
    		C--74190385(+) CCTCCC/TAGGTT 1 -- int10--------
    rs1461733181,2
    		C,F--74191648(+) CTGTCG/AGAGAA 2 /S syn12Minor allele frequency- A:0.00NA EU 5859
    rs1998868631,2
    		F--74191705(+) GTGGGG/TACGGA 1 -- int11Minor allele frequency- T:0.00EU 1133

    HapMap Linkage Disequilibrium report for NCF1 (74188309 - 74203659 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NCF1
         2 CNVs: 3686 31361
    Human Gene Mutation Database (HGMD): NCF1

    Locus Specific Mutation Databases (LSDB): NCF1

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NCF1
    DNA2.0 Custom Variant and Variant Library Synthesis for NCF1

    Disorders / Diseases
    for NCF1 gene

    (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.)
    About This Section
    NCF1 for disorders           About GeneDecksing

    OMIM gene information: 608512   
    OMIM disorders: 233700  
    UniProtKB/Swiss-Prot: NCF1_HUMAN, P14598
  • Defects in NCF1 are the cause of chronic granulomatous disease autosomal recessive cytochrome-b-positive type
    • 1 (CGD1) [MIM:233700]. Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the
    inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from
    life-threatening bacterial/fungal infections

    18 diseases for NCF1:    About MalaCards
    chronic granulomatous disease    chronic granulomatous disease due to deficiency of ncf    chronic granulomatous disease due to deficiency of ncf-1    williams-beuren syndrome
    idiopathic pulmonary fibrosis    ectodermal dysplasia    pulmonary fibrosis    breast-ovarian cancer
    ovarian cancer    cerebral infarction    fibrosis    leishmaniasis
    homocysteine    cerebritis    atherosclerosis    arthritis
    tuberculosis    immunodeficiency

    2 diseases from the University of Copenhagen DISEASES database for NCF1:
    Chronic granulomatous disease     Arthritis
    Genatlas disease: NCF1
    chronic granulomatous disease,autosomal common form

    Human Genome Epidemiology (HuGE) Navigator: NCF1 (2 documents)

    Export disorders for NCF1 gene to outside databases

    Publications
    for NCF1 gene

    (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)
    About This Section

    PubMed articles for NCF1 gene, integrated from 9 sources (see all 119):
    (articles sorted by number of sources associating them with NCF1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    2. 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. (2005)
    3. 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. (2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase. (PubMed id 12023963)1, 2 Xu Y.C....Terada L.S. (2002)
    6. TNFalpha activates c-jun amino terminal kinase through p47(phox). (PubMed id 11740866)1, 2 Gu Y.... Terada L.S. (2002)
    7. Solution structure of the PX domain, a target of the SH3 domain. (PubMed id 11373621)1, 2 Hiroaki H.... Kohda D. (2001)
    8. Autosomal recessive chronic granulomatous disease caused by defects in NCF1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF1 pseudogenes. (PubMed id 11133775)1, 2 Noack D.... Heyworth P.G. (2001)
    9. Genomic structure of the human p47-phox (NCF1) gene. (PubMed id 10772875)1, 2 Chanock S.J.... Goerlach A. (2000)
    10. A p47-phox pseudogene carries the most common mutation causing p47- phox-deficient chronic granulomatous disease. (PubMed id 9329953)1, 2 Gorlach A.... Curnutte J.T. (1997)

    External Searches for NCF1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NCF1 gene

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

    Other Databases showing NCF1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NCF1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NCF1 Pharmacogenomics, SNPs, Pathways
    NCF1basehttp://bioinf.uta.fi/NCF1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NCF1

    Intellectual Property
    for NCF1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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