Format

Send to:

Choose Destination
    • Showing Current items.

    NCF1 neutrophil cytosolic factor 1 [ Homo sapiens (human) ]

    Gene ID: 653361, updated on 8-Jul-2021

    Summary

    Official Symbol
    NCF1provided by HGNC
    Official Full Name
    neutrophil cytosolic factor 1provided by HGNC
    Primary source
    HGNC:HGNC:7660
    See related
    Ensembl:ENSG00000158517 MIM:608512
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CGD1; NCF1A; NOXO2; p47phox; SH3PXD1A
    Summary
    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]
    Expression
    Biased expression in bone marrow (RPKM 86.3), spleen (RPKM 53.3) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NCF1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74774011..74789315)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74188309..74203720)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene general transcription factor IIi Neighboring gene GTF2I antisense RNA 1 Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene prohibitin pseudogene 15 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene stromal antigen 3-like 2 (pseudogene)

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat p47-phox interacts with TRAF4, and overexpression of the p47-phox binding domain of TRAF4 inhibits endothelial cell JNK activation by HIV-1 Tat, suggesting Tat initiates signals that enter basic signaling cassettes at the level of TRAF4 PubMed
    tat HIV-1 Tat increases phosphorylation of the NADPH oxidase subunit p47(phox) and causes its rapid redistribution to membrane ruffles in human endothelial cells PubMed
    tat Microarray analysis indicates HIV-1 Tat upregulates the expression of many proteins, including 47-kD granulomatous disease protein, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ77910, FLJ79240, FLJ79451

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-3,4-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables superoxide-generating NAD(P)H oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables superoxide-generating NADPH oxidase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to cadmium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cadmium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to reactive oxygen species IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epidermal growth factor-activated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of p38MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in reactive oxygen species biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of respiratory burst involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory burst IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in respiratory burst TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within_positive_effect superoxide anion generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in superoxide anion generation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in superoxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of NADPH oxidase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NADPH oxidase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extrinsic component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagolysosome TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    neutrophil cytosol factor 1
    Names
    47 kDa autosomal chronic granulomatous disease protein
    47 kDa neutrophil oxidase factor
    NADPH oxidase organizer 2
    NCF-1
    NCF-47K
    SH3 and PX domain-containing protein 1A
    neutrophil NADPH oxidase factor 1
    neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)
    nox organizer 2
    nox-organizing protein 2
    p47-phox

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009078.2 RefSeqGene

      Range
      5048..20352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_87

    mRNA and Protein(s)

    1. NM_000265.7NP_000256.4  neutrophil cytosol factor 1

      See identical proteins and their annotated locations for NP_000256.4

      Status: REVIEWED

      Source sequence(s)
      AC211433
      Consensus CDS
      CCDS34657.1
      UniProtKB/Swiss-Prot
      P14598
      Related
      ENSP00000289473.4, ENST00000289473.10
      Conserved Domains (5) summary
      cd06887
      Location:6123
      PX_p47phox; The phosphoinositide binding Phox Homology domain of the p47phox subunit of NADPH oxidase
      cd12021
      Location:160212
      SH3_p47phox_1; First or N-terminal Src homology 3 domain of the p47phox subunit of NADPH oxidase, also called Neutrophil Cytosolic Factor 1
      cd12022
      Location:230282
      SH3_p47phox_2; Second or C-terminal Src homology 3 domain of the p47phox subunit of NADPH oxidase, also called Neutrophil Cytosolic Factor 1
      pfam08944
      Location:359390
      p47_phox_C; NADPH oxidase subunit p47Phox, C terminal domain
      pfam16621
      Location:282330
      NECFESHC; SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      74774011..74789315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center