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

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: human all
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Genomic context

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NCF1-dependent production of ROS protects against lupus by regulating plasmacytoid dendritic cell development and functions.
Title: NCF1-dependent production of ROS protects against lupus by regulating plasmacytoid dendritic cell development and functions.
Two major genes associated with autoimmune arthritis, Ncf1 and Fcgr2b, additively protect mice by strengthening T cell tolerance.
Title: Two major genes associated with autoimmune arthritis, Ncf1 and Fcgr2b, additively protect mice by strengthening T cell tolerance.
The NCF1 variant p.R90H aggravates autoimmunity by facilitating the activation of plasmacytoid dendritic cells.
Title: The NCF1 variant p.R90H aggravates autoimmunity by facilitating the activation of plasmacytoid dendritic cells.
Exercise Affects the Formation and Recovery of Alcoholic Liver Disease through the IL-6-p47(phox) Oxidative-Stress Axis.
Title: Exercise Affects the Formation and Recovery of Alcoholic Liver Disease through the IL-6-p47(phox) Oxidative-Stress Axis.
Ncf1 Governs Immune Niches in the Lung to Mediate Pulmonary Inflammation in Mice.
Title: Ncf1 Governs Immune Niches in the Lung to Mediate Pulmonary Inflammation in Mice.
Natural Loss-of-Function Mutations in Qa2 and NCF1 Cause the Spread of Mannan-Induced Psoriasis.
Title: Natural Loss-of-Function Mutations in Qa2 and NCF1 Cause the Spread of Mannan-Induced Psoriasis.
The atypical small GTPase GEM/Kir is a negative regulator of the NADPH oxidase and NETs production through macroautophagy.
Title: The atypical small GTPase GEM/Kir is a negative regulator of the NADPH oxidase and NETs production through macroautophagy.
Independent and inter-dependent immunoregulatory effects of NCF1 and NOS2 in experimental autoimmune encephalomyelitis.
Title: Independent and inter-dependent immunoregulatory effects of NCF1 and NOS2 in experimental autoimmune encephalomyelitis.
Akt3 induces oxidative stress and DNA damage by activating the NADPH oxidase via phosphorylation of p47(phox).
Title: Akt3 induces oxidative stress and DNA damage by activating the NADPH oxidase via phosphorylation of p47(phox).
Neutrophil Cytosolic Factor 1 in Dendritic Cells Promotes Autoreactive CD8(+) T Cell Activation via Cross-Presentation in Type 1 Diabetes.
Title: Neutrophil Cytosolic Factor 1 in Dendritic Cells Promotes Autoreactive CD8(+) T Cell Activation via Cross-Presentation in Type 1 Diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (122)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G48146 (e-PCR)
- UniSTS:95255

NoName (e-PCR)
- UniSTS:224301

L11455 (e-PCR)
- UniSTS:179281

Ncf1 (e-PCR), detects polymorphism
- UniSTS:228517

Ncf1 (e-PCR), detects polymorphism
- UniSTS:507079

Ncf1 (e-PCR), detects polymorphism
- UniSTS:548044

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4-bisphosphate binding	ISO Inferred from Sequence Orthology 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 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
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
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
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 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

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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)

NM_001286037.1 → NP_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:6 → 123

PX_p47phox; The phosphoinositide binding Phox Homology domain of the p47phox subunit of NADPH oxidase

cd12021
Location:160 → 212

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:230 → 282

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:332 → 403

p47_phox_C; NADPH oxidase subunit p47Phox, C terminal domain

pfam16621
Location:282 → 331

NECFESHC; SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1
NM_010876.4 → NP_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:6 → 123

PX_p47phox; The phosphoinositide binding Phox Homology domain of the p47phox subunit of NADPH oxidase

cd12021
Location:160 → 212

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:230 → 282

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:332 → 389

p47_phox_C; NADPH oxidase subunit p47Phox, C terminal domain

pfam16621
Location:282 → 331

NECFESHC; SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1

RNA

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