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NOXO1 NADPH oxidase organizer 1 [ Homo sapiens (human) ]

Gene ID: 124056, updated on 5-Mar-2024

Summary

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Official Symbol
NOXO1provided by HGNC
Official Full Name
NADPH oxidase organizer 1provided by HGNC
Primary source
HGNC:HGNC:19404
See related
Ensembl:ENSG00000196408 MIM:611256; AllianceGenome:HGNC:19404
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
SNX28; P41NOX; P41NOXA; P41NOXB; P41NOXC; SH3PXD5
Summary
This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
Expression
Broad expression in colon (RPKM 2.7), appendix (RPKM 0.9) and 14 other tissues See more
Orthologs
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Genomic context

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See NOXO1 in Genome Data Viewer
Location:
16p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1978917..1981469, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1998875..2001427, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2028918..2031470, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 78 Neighboring gene small nucleolar RNA host gene 9 Neighboring gene ring finger protein 151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10249 Neighboring gene transducin beta like 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2028013-2028592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2028593-2029172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2029173-2029752 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:2029753-2030330 and GRCh37_chr16:2030331-2030910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10250 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2032733-2032925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7014 Neighboring gene growth factor, augmenter of liver regeneration Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2038929-2039508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2041827-2042404 Neighboring gene synaptogyrin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2042985-2043562

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation. Benssouina FZ, et al. Int J Mol Sci, 2023 Feb 28. PMID 36902094, Free PMC Article
  2. The NOXO1β PX domain preferentially targets PtdIns(4,5)P2 and PtdIns(3,4,5)P3. Davis NY, et al. J Mol Biol, 2012 Apr 13. PMID 22342885, Free PMC Article
  3. Backbone 1H, 15N, and 13C resonance assignments for the NOXO1β PX domain. Davis NY, et al. Biomol NMR Assign, 2011 Oct. PMID 21188560, Free PMC Article
  4. Expression and function of Noxo1gamma, an alternative splicing form of the NADPH oxidase organizer 1. Takeya R, et al. FEBS J, 2006 Aug. PMID 16911517
  5. Mechanisms of activation of NADPH oxidases. Clark RA, et al. Jpn J Infect Dis, 2004 Oct. PMID 15507761

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration.
    Title: DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration.
  2. Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation.
    Title: Overexpression of a Novel Noxo1 Mutant Increases Ros Production and Noxo1 Relocalisation.
  3. CYLD destabilizes NoxO1 protein by promoting ubiquitination and regulates prostate cancer progression.
    Title: CYLD destabilizes NoxO1 protein by promoting ubiquitination and regulates prostate cancer progression.
  4. Tyrosine kinase substrate (Tks) proteins, analogous to the related proteins p47(phox), p40(phox) and NoxO1, also facilitate local generation of reactive oxygen species (ROS), which aid in signaling at invadopodia and/or podosomes to promote their activity. As their name suggests, Tks adaptor proteins are substrates for tyrosine kinases, especially Src. [review]
    Title: Tks adaptor proteins at a glance.
  5. PEDF protects human glomerular mesangial cells from diabetes-derived oxidative stress via NOXO1- iNOS suppression.
    Title: Pigment epithelium‑derived factor protects human glomerular mesangial cells from diabetes via NOXO1‑iNOS suppression.
  6. Data from pull-down assay between the Noxo1 and Noxa1 showed that the SH3 domains (Noxa1) is responsible for interaction with Noxo1 C-terminal tail harboring proline rich region.
    Title: C-terminal tail of NADPH oxidase organizer 1 (Noxo1) mediates interaction with NADPH oxidase activator (Noxa1) in the NOX1 complex.
  7. TNF-alpha/TNFR1 signaling promotes gastric tumorigenesis through induction of Noxo1 and Gna14 in tumor cells.
    Title: TNF-α/TNFR1 signaling promotes gastric tumorigenesis through induction of Noxo1 and Gna14 in tumor cells.
  8. Phosphorylation of Thr341 allows Noxo1 to sufficiently interact with Noxa1, an interaction that participates in Nox1 activation
    Title: Phosphorylation of Noxo1 at threonine 341 regulates its interaction with Noxa1 and the superoxide-producing activity of Nox1.
  9. Phorbol myristate acetate stimulates NOXO1 phosphorylation in a transfected human embryonic kidney (HEK) 293 epithelial cell model via protein kinase C and identify Ser-154 as the major phosphorylated site.
    Title: NOXO1 phosphorylation on serine 154 is critical for optimal NADPH oxidase 1 assembly and activation.
  10. Surface plasmon resonance experiments identify PtdIns(4,5)P(2) and PtdIns(3,4,5)P(3) as preferred targets of NOXO1beta PX.
    Title: The NOXO1β PX domain preferentially targets PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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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

Homology

Clone Names

  • MGC20258

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
  
enables phospholipid binding TAS
Traceable Author Statement
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
  
enables superoxide-generating NADPH oxidase activator activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in extracellular matrix disassembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of hydrogen peroxide metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of respiratory burst TAS
Traceable Author Statement
more info
 PubMed 
involved_in superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
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
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
NADPH oxidase organizer 1
Names
NADPH oxidase regulatory protein
Nox organizer 1
SH3 and PX domain-containing protein 5
nox-organizing protein 1
regulatory protein P41NOX

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)

  1. NM_001267721.2 → NP_001254650.1  NADPH oxidase organizer 1 isoform d

    See identical proteins and their annotated locations for NP_001254650.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) uses an alternate splice site compared to variant a, but maintains the same reading frame. The encoded isoform (d) is longer than isoform a.
    Source sequence(s)
    AK292197, AY191359
    Consensus CDS
    CCDS58406.1
    UniProtKB/TrEMBL
    A8K832
    Related
    ENSP00000456800.1, ENST00000566005.5
    Conserved Domains (3) summary
    cd12023
    Location:166 → 221
    SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1
    cd12024
    Location:240 → 292
    SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1
    cl02563
    Location:3 → 126
    PX_domain; The Phox Homology domain, a phosphoinositide binding module

  2. NM_144603.4 → NP_653204.1  NADPH oxidase organizer 1 isoform a

    See identical proteins and their annotated locations for NP_653204.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the shortest transcript and encodes the shortest isoform (a).
    Source sequence(s)
    BC015917, DB009385
    Consensus CDS
    CCDS10454.1
    UniProtKB/TrEMBL
    A8K832
    Related
    ENSP00000346195.4, ENST00000354249.8
    Conserved Domains (3) summary
    cd12023
    Location:161 → 216
    SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1
    cd12024
    Location:235 → 287
    SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1
    cl02563
    Location:3 → 121
    PX_domain; The Phox Homology domain, a phosphoinositide binding module

  3. NM_172167.3 → NP_751907.1  NADPH oxidase organizer 1 isoform b

    See identical proteins and their annotated locations for NP_751907.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant a. The encoded isoform (b) is longer than isoform a.
    Source sequence(s)
    AF532984, AK292197
    Consensus CDS
    CCDS10455.1
    UniProtKB/TrEMBL
    A8K832
    Related
    ENSP00000348435.4, ENST00000356120.9
    Conserved Domains (3) summary
    cd12023
    Location:162 → 217
    SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1
    cd12024
    Location:236 → 288
    SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1
    cl02563
    Location:3 → 122
    PX_domain; The Phox Homology domain, a phosphoinositide binding module

  4. NM_172168.3 → NP_751908.1  NADPH oxidase organizer 1 isoform c

    See identical proteins and their annotated locations for NP_751908.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) uses two alternate splice sites compared to variant a, but maintains the same reading frame. The encoded isoform (c) is longer than isoform a.
    Source sequence(s)
    AF532985, AK292197
    Consensus CDS
    CCDS42101.1
    UniProtKB/Swiss-Prot
    Q86YM1, Q8NFA2, Q8NFA3, Q96B73
    UniProtKB/TrEMBL
    A8K832
    Related
    ENSP00000380450.4, ENST00000397280.8
    Conserved Domains (3) summary
    cd12023
    Location:167 → 222
    SH3_NoxO1_1; First or N-terminal Src homology 3 domain of Nox Organizing protein 1
    cd12024
    Location:241 → 293
    SH3_NoxO1_2; Second or C-terminal Src homology 3 domain of NADPH oxidase (Nox) Organizing protein 1
    cl02563
    Location:3 → 127
    PX_domain; The Phox Homology domain, a phosphoinositide binding module

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1978917..1981469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791799.1 Reference GRCh38.p14 PATCHES

    Range
    45065..47617 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    1998875..2001427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFA2.1 GenPept UniProtKB/Swiss-Prot:Q8NFA2

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