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

    Gene ID: 4689, updated on 19-Jul-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NCF4 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36861006..36878015)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37257048..37274057)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CACNG2 divergent transcript 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
    enables phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables superoxide-generating NADPH oxidase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables superoxide-generating NADPH oxidase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory burst IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in 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
    PubMed 
    part_of NADPH oxidase complex IDA
    Inferred from Direct Assay
    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 endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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 109.20210514

    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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