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

Gene ID: 653361, updated on 22-Aug-2021

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
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
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Genomic context

See NCF1 in Genome Data Viewer
Location:
7q11.23
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74774011..74789315)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74188309..74203720)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene general transcription factor IIi Neighboring gene GTF2I antisense RNA 1 Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene prohibitin pseudogene 15 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene stromal antigen 3-like 2 (pseudogene)

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ77910, FLJ79240, FLJ79451

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
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
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 reactive oxygen species IDA
Inferred from Direct Assay
more info
PubMed 
involved_in electron transport chain IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response TAS
Traceable Author Statement
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 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated 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
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
PubMed 
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
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
part_of NADPH oxidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of NADPH oxidase complex IDA
Inferred from Direct Assay
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
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 extrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
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 rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

  1. NG_009078.2 RefSeqGene

    Range
    5048..20352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_87

mRNA and Protein(s)

  1. NM_000265.7NP_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
    P14598
    Related
    ENSP00000289473.4, ENST00000289473.10
    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:359390
    p47_phox_C; NADPH oxidase subunit p47Phox, C terminal domain
    pfam16621
    Location:282330
    NECFESHC; SH3 terminal domain of 2nd SH3 on Neutrophil cytosol factor 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    74774011..74789315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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