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

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; AllianceGenome:HGNC:7660
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: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (74774011..74789315)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (75976304..75991631)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (74188358..74203659)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.
Title: The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.
ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.
Title: ROCK2 interacts with p22phox to phosphorylate p47phox and to control NADPH oxidase activation in human monocytes.
Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.
Title: Impaired p47phox phosphorylation in neutrophils from patients with p67phox-deficient chronic granulomatous disease.
Human SLE variant NCF1-R90H promotes kidney damage and murine lupus through enhanced Tfh2 responses induced by defective efferocytosis of macrophages.
Title: Human SLE variant NCF1-R90H promotes kidney damage and murine lupus through enhanced Tfh2 responses induced by defective efferocytosis of macrophages.
NCF1/2/4 Are Prognostic Biomarkers Related to the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.
Title: NCF1/2/4 Are Prognostic Biomarkers Related to the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.
Neutrophil Cytosolic Factor-1 Genotyping in Acne Vulgaris.
Title: Neutrophil Cytosolic Factor-1 Genotyping in Acne Vulgaris.
Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.
Title: Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.
Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population.
Title: Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population.
P-Tyr42 RhoA GTPase amplifies superoxide formation through p47phox, phosphorylated by ROCK.
Title: P-Tyr42 RhoA GTPase amplifies superoxide formation through p47phox, phosphorylated by ROCK.
Data showed that proliferating cell nuclear antigen (PCNA) associated with neutrophil cytosolic factor 1 (p47phox), a key subunit of NADPH oxidase in neutrophils and that this association regulated reactive oxygen species (ROS) production.
Title: Cytosolic PCNA interacts with p47phox and controls NADPH oxidase NOX2 activation in neutrophils.

Submit: New GeneRIF Correction See all GeneRIFs (99)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MedGen: C1856251 OMIM: 233700 GeneReviews: Chronic Granulomatous Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54020 (e-PCR)
- UniSTS:109402

RH45388 (e-PCR)
- UniSTS:87700

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

WI-6056 (e-PCR)
- UniSTS:1195

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

Process	Evidence Code	Pubs
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 glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to reactive oxygen species	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to testosterone stimulus	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype 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/protein kinase B signal transduction	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
involved_in respiratory burst	NAS Non-traceable Author Statement 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
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
part_of NADPH oxidase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NADPH oxidase complex	IDA Inferred from Direct Assay more info	PubMed
part_of NADPH oxidase complex	NAS Non-traceable Author Statement 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
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay 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 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 plasma membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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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)

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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.

Genomic

NG_009078.2 RefSeqGene

Range

5048..20352

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_87

mRNA and Protein(s)

NM_000265.7 → NP_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

A6NEH2, A6NI72, A8K7S9, O43842, P14598, Q2PP07, Q53FR5, Q9BU90, Q9BXI7, Q9BXI8, Q9UDV9, Q9UMU2

Related

ENSP00000289473.4, ENST00000289473.11

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:359 → 390

p47_phox_C; NADPH oxidase subunit p47Phox, C terminal domain

pfam16621
Location:282 → 330

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