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    Ncf1 neutrophil cytosolic factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 17969, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ncf1provided by MGI
    Official Full Name
    neutrophil cytosolic factor 1provided by MGI
    Primary source
    MGI:MGI:97283
    See related
    Ensembl:ENSMUSG00000015950 AllianceGenome:MGI:97283
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NOXO2; Ncf-1; NCF-47K; p47phox; p47-phox; p47<phox>
    Summary
    Enables superoxide-generating NADPH oxidase activator activity. Acts upstream of or within several processes, including cellular defense response; hydrogen peroxide biosynthetic process; and neutrophil-mediated killing of symbiont cell. Located in cytoplasm and membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study chronic granulomatous disease and rheumatoid arthritis. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome; autosomal recessive chronic granulomatous disease 1; and chronic granulomatous disease. Orthologous to several human genes including NCF1 (neutrophil cytosolic factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in spleen adult (RPKM 37.3), liver E18 (RPKM 21.7) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ncf1 in Genome Data Viewer
    Location:
    5 G2; 5 74.47 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (134248907..134258479, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (134220053..134229628, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene reculator of chromosome condensation 1 like Neighboring gene STARR-positive B cell enhancer ABC_E3627 Neighboring gene STARR-positive B cell enhancer ABC_E105 Neighboring gene STARR-positive B cell enhancer ABC_E4791 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene predicted gene, 57734 Neighboring gene STARR-positive B cell enhancer mm9_chr5:134712733-134713034 Neighboring gene general transcription factor II I Neighboring gene STARR-positive B cell enhancer ABC_E8084 Neighboring gene STARR-seq mESC enhancer starr_14530 Neighboring gene microRNA 3965

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables superoxide-generating NAD(P)H oxidase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables superoxide-generating NADPH oxidase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables superoxide-generating NADPH oxidase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables superoxide-generating NADPH oxidase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables superoxide-generating NADPH oxidase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within NADP catabolic process ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within cellular defense response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to Gram-positive bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to fungus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hydrogen peroxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within leukocyte mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within leukotriene metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neutrophil-mediated killing of fungus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neutrophil-mediated killing of gram-positive bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in reactive oxygen species biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of respiratory burst involved in inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in respiratory burst IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within respiratory burst IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in respiratory burst ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within respiratory burst involved in defense response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to yeast IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within superoxide anion generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of NADPH oxidase complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of NADPH oxidase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    neutrophil cytosol factor 1
    Names
    47 kDa neutrophil oxidase factor
    NADPH oxidase subunit (47 kD)
    NADPH oxidase subunit (47kDa)
    neutrophil NADPH oxidase factor 1

    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.

    mRNA and Protein(s)

    1. NM_001286037.1NP_001272966.1  neutrophil cytosol factor 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC093346, AK149732, AK150945
      Consensus CDS
      CCDS71674.1
      UniProtKB/TrEMBL
      F8WH69, Q3UBI5
      Related
      ENSMUSP00000016094.7, ENSMUST00000016094.13
      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:332403
      p47_phox_C; NADPH oxidase subunit p47Phox, C terminal domain
      pfam16621
      Location:282331
      NECFESHC; SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1
    2. NM_010876.4NP_035006.3  neutrophil cytosol factor 1 isoform b

      See identical proteins and their annotated locations for NP_035006.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC093346, AK149732, AK150945
      Consensus CDS
      CCDS39298.1
      UniProtKB/Swiss-Prot
      O70144, Q09014, Q3UE58, Q9JI34
      UniProtKB/TrEMBL
      Q3U9Y3, Q7TMH0
      Related
      ENSMUSP00000106906.2, ENSMUST00000111275.8
      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:332389
      p47_phox_C; NADPH oxidase subunit p47Phox, C terminal domain
      pfam16621
      Location:282331
      NECFESHC; SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1

    RNA

    1. NR_104383.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK149668, AK149732

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      134248907..134258479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_377103.5 RNA Sequence