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

Gene ID: 17969, updated on 14-Feb-2023

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; hemolymphoid system; integumental system; and sensory organ. Used to study chronic granulomatous disease. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome; autosomal recessive chronic granulomatous disease cytochrome b-positive type I; and chronic granulomatous disease. Orthologous to several human genes including NCF1 (neutrophil cytosolic factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen adult (RPKM 37.3), liver E18 (RPKM 21.7) and 15 other tissues See more
Orthologs
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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
109 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 GTF2I repeat domain containing 2 Neighboring gene uncharacterized LOC115490142 Neighboring gene general transcription factor II I 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

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within NADP catabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
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 negative regulation of smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
 
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 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
PubMed 
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 
acts_upstream_of smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
 
involved_in superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within superoxide anion generation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
part_of NADPH oxidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of NADPH oxidase complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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 extrinsic component of membrane 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
 
located_in rough endoplasmic reticulum 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)

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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/Swiss-Prot
    Q09014
    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
    Q09014, Q9JI34
    UniProtKB/TrEMBL
    Q3UBI5
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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