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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
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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

General gene information

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within NADP catabolic process PubMed 
acts_upstream_of_or_within cellular defense response PubMed 
acts_upstream_of_or_within defense response to Gram-positive bacterium PubMed 
acts_upstream_of_or_within defense response to bacterium PubMed 
acts_upstream_of_or_within defense response to fungus PubMed 
acts_upstream_of_or_within epithelial cell proliferation PubMed 
acts_upstream_of_or_within hydrogen peroxide biosynthetic process PubMed 
acts_upstream_of_or_within inflammatory response PubMed 
acts_upstream_of_or_within leukocyte mediated cytotoxicity PubMed 
acts_upstream_of_or_within leukotriene metabolic process PubMed 
acts_upstream_of_or_within neutrophil-mediated killing of fungus PubMed 
acts_upstream_of_or_within neutrophil-mediated killing of gram-positive bacterium PubMed 
involved_in protein targeting to membrane  
involved_in reactive oxygen species biosynthetic process  
involved_in regulation of respiratory burst involved in inflammatory response  
involved_in respiratory burst  
acts_upstream_of_or_within respiratory burst PubMed 
involved_in respiratory burst  
acts_upstream_of_or_within respiratory burst involved in defense response PubMed 
acts_upstream_of_or_within response to bacterium PubMed 
acts_upstream_of_or_within response to yeast PubMed 
involved_in superoxide anion generation  
acts_upstream_of_or_within superoxide anion generation PubMed 
Component Evidence Code Pubs
part_of NADPH oxidase complex  
part_of NADPH oxidase complex  
part_of NADPH oxidase complex  
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoplasmic side of plasma membrane  
located_in cytoplasmic side of plasma membrane  
located_in cytosol PubMed 
located_in cytosol PubMed 
located_in dendrite  
located_in membrane PubMed 
located_in membrane  
located_in neuronal cell body  
located_in plasma membrane  

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/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

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