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NCF4 neutrophil cytosolic factor 4 [ Homo sapiens (human) ]

Gene ID: 4689, updated on 4-Jun-2020

Summary

Official Symbol
NCF4provided by HGNC
Official Full Name
neutrophil cytosolic factor 4provided by HGNC
Primary source
HGNC:HGNC:7662
See related
Ensembl:ENSG00000100365 MIM:601488
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
NCF; CGD3; P40PHOX; SH3PXD4
Summary
The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Expression
Biased expression in bone marrow (RPKM 51.6), appendix (RPKM 18.9) and 11 other tissues See more
Orthologs

Genomic context

See NCF4 in Genome Data Viewer
Location:
22q12.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36861006..36878015)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37257030..37274059)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373021 Neighboring gene intraflagellar transport 27 Neighboring gene parvalbumin Neighboring gene NCF4 antisense RNA 1 Neighboring gene uncharacterized LOC105373022 Neighboring gene uncharacterized LOC105373023 Neighboring gene colony stimulating factor 2 receptor subunit beta

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3810

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
superoxide-generating NADPH oxidase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
superoxide-generating NADPH oxidase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
superoxide-generating NADPH oxidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
Process Evidence Code Pubs
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
cell redox homeostasis TAS
Traceable Author Statement
more info
 
cellular response to oxidative stress TAS
Traceable Author Statement
more info
 
oxidation-reduction process IGI
Inferred from Genetic Interaction
more info
PubMed 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
phagocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
respiratory burst IEA
Inferred from Electronic Annotation
more info
 
superoxide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
NADPH oxidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADPH oxidase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
phagolysosome TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
neutrophil cytosol factor 4
Names
NCF-4
SH3 and PX domain-containing protein 4
neutrophil NADPH oxidase factor 4
neutrophil cytosolic factor 4, 40kDa
p40-phox

NCBI Reference Sequences (RefSeq)

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_023400.1 RefSeqGene

    Range
    5001..22030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_159

mRNA and Protein(s)

  1. NM_000631.5NP_000622.2  neutrophil cytosol factor 4 isoform 1

    See identical proteins and their annotated locations for NP_000622.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an internal coding segment compared to variant 2, which leads to a translation frameshift. The resulting isoform (1) has a distinct and shorter C-terminus, as compared to isoform 2.
    Source sequence(s)
    BC002798, BU076892, BX355636
    Consensus CDS
    CCDS13934.1
    UniProtKB/Swiss-Prot
    Q15080
    Related
    ENSP00000248899.6, ENST00000248899.11
    Conserved Domains (3) summary
    cd06399
    Location:238329
    PB1_P40; The PB1 domain is essential part of the p40 adaptor protein which plays an important role in activating phagocyte NADPH oxidase during phagocytosis. The PB1 domain is a modular domain mediating specific protein-protein interaction which play a role in ...
    cd06882
    Location:19141
    PX_p40phox; The phosphoinositide binding Phox Homology domain of the p40phox subunit of NADPH oxidase
    cd11869
    Location:174227
    SH3_p40phox; Src Homology 3 domain of the p40phox subunit of NADPH oxidase
  2. NM_013416.4NP_038202.2  neutrophil cytosol factor 4 isoform 2

    See identical proteins and their annotated locations for NP_038202.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2). This isoform (2) lacks the PC (Phox and Cdc24p) motif, which may be important for the interaction with NCF2.
    Source sequence(s)
    AK290924, BC002798
    Consensus CDS
    CCDS13935.1
    UniProtKB/Swiss-Prot
    Q15080
    Related
    ENSP00000380334.4, ENST00000397147.7
    Conserved Domains (3) summary
    cd06882
    Location:19141
    PX_p40phox; The phosphoinositide binding Phox Homology domain of the p40phox subunit of NADPH oxidase
    cd11869
    Location:174227
    SH3_p40phox; Src Homology 3 domain of the p40phox subunit of NADPH oxidase
    cl02720
    Location:238258
    PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    36861006..36878015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028808.1XP_016884297.1  neutrophil cytosol factor 4 isoform X1

    Related
    ENSP00000498212.1, ENST00000650827.1

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187631.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    81800..101331
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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