Human Gene NOXO1 (ENST00000356120.9_14) from GENCODE V47lift37
  Description: NADPH oxidase organizer 1, transcript variant b (from RefSeq NM_172167.3)
Gencode Transcript: ENST00000356120.9_14
Gencode Gene: ENSG00000196408.12_18
Transcript (Including UTRs)
   Position: hg19 chr16:2,028,918-2,031,470 Size: 2,553 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr16:2,029,053-2,031,180 Size: 2,128 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:2,028,918-2,031,470)mRNA (may differ from genome)Protein (371 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NOXO1_HUMAN
DESCRIPTION: RecName: Full=NADPH oxidase organizer 1; AltName: Full=NADPH oxidase regulatory protein; AltName: Full=Nox organizer 1; AltName: Full=Nox-organizing protein 1; AltName: Full=SH3 and PX domain-containing protein 5;
FUNCTION: Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity.
SUBUNIT: Interacts with NOX1, NOXA1, CYBA/p22phox and NCF2/p67phox. Interacts with SH3PXD2A and SH3PXD2B.
SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Isoform 3 associates with the plasma membrane in a lipid-dependent manner.
TISSUE SPECIFICITY: Expressed in testis, small and large intestines, liver, kidney and pancreas. Isoform 3 is mainly expressed in colon. Isoform 1 is preferentially expressed in testis.
DEVELOPMENTAL STAGE: Isoform 3 is expressed in fetal liver.
DOMAIN: The PX domain mediates lipid-binding, localization to the plasma membrane and is required for NOX1 activation.
DOMAIN: The SH3 domains mediate interaction with CYBA/p22phox. Also mediates intramolecular interaction with the proline-rich region.
SIMILARITY: Contains 1 PX (phox homology) domain.
SIMILARITY: Contains 2 SH3 domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NOXO1
Diseases sorted by gene-association score: mitochondrial complex i deficiency (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.72 RPKM in Small Intestine - Terminal Ileum
Total median expression: 2.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -111.50290-0.384 Picture PostScript Text
3' UTR -60.40135-0.447 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001683 - Phox
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
64268 - PX domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2L73 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q8NFA2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008289 lipid binding
GO:0016176 superoxide-generating NADPH oxidase activator activity
GO:0019899 enzyme binding
GO:0035091 phosphatidylinositol binding
GO:0042802 identical protein binding

Biological Process:
GO:0006801 superoxide metabolic process
GO:0010310 regulation of hydrogen peroxide metabolic process
GO:0022617 extracellular matrix disassembly
GO:0043085 positive regulation of catalytic activity
GO:0055114 oxidation-reduction process
GO:0060263 regulation of respiratory burst

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0043020 NADPH oxidase complex


-  Descriptions from all associated GenBank mRNAs
  AB097667 - Homo sapiens NOXO1 mRNA for NADPH oxidase organizer 1, complete cds.
BC015917 - Homo sapiens NADPH oxidase organizer 1, mRNA (cDNA clone MGC:20258 IMAGE:4661469), complete cds.
HW061181 - JP 2012529430-A/56: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482140 - Sequence 123 from Patent WO2011072091.
JB251989 - Sequence 56 from Patent EP2440214.
JE980432 - Sequence 123 from Patent EP2862929.
LP764888 - Sequence 56 from Patent EP3276004.
AK292197 - Homo sapiens cDNA FLJ78568 complete cds, highly similar to Homo sapiens NADPH oxidase organizer 1 (NOXO1), transcript variant b, mRNA.
JD217610 - Sequence 198634 from Patent EP1572962.
AF532983 - Homo sapiens regulatory protein NOXO1-alpha mRNA, complete cds; alternatively spliced.
AF532984 - Homo sapiens regulatory protein NOXO1-beta mRNA, complete cds; alternatively spliced.
AF532985 - Homo sapiens regulatory protein NOXO1-gamma mRNA, complete cds; alternatively spliced.
AY191359 - Homo sapiens regulatory protein NOXO1-delta (NOXO1) mRNA, complete cds; alternatively spliced.
HW061182 - JP 2012529430-A/57: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061183 - JP 2012529430-A/58: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482141 - Sequence 124 from Patent WO2011072091.
JA482142 - Sequence 125 from Patent WO2011072091.
JB251990 - Sequence 57 from Patent EP2440214.
JB251991 - Sequence 58 from Patent EP2440214.
JE980433 - Sequence 124 from Patent EP2862929.
JE980434 - Sequence 125 from Patent EP2862929.
LP764889 - Sequence 57 from Patent EP3276004.
LP764890 - Sequence 58 from Patent EP3276004.
AF539796 - Homo sapiens NADPH oxidase organizer 1 (NOXO1) mRNA, complete cds.
AY255768 - Homo sapiens NADPH oxidase regulatory protein (NOXO1) mRNA, complete cds.
AK313917 - Homo sapiens cDNA, FLJ94555.
KJ895385 - Synthetic construct Homo sapiens clone ccsbBroadEn_04779 NOXO1 gene, encodes complete protein.
KJ900086 - Synthetic construct Homo sapiens clone ccsbBroadEn_09480 NOXO1 gene, encodes complete protein.
AB528885 - Synthetic construct DNA, clone: pF1KE0630, Homo sapiens NOXO1 gene for NADPH oxidase organizer 1, without stop codon, in Flexi system.
AK310198 - Homo sapiens cDNA, FLJ17240.
JD105480 - Sequence 86504 from Patent EP1572962.
JD048246 - Sequence 29270 from Patent EP1572962.
JD190499 - Sequence 171523 from Patent EP1572962.
JD310842 - Sequence 291866 from Patent EP1572962.
JD352119 - Sequence 333143 from Patent EP1572962.
JD310730 - Sequence 291754 from Patent EP1572962.
JD038650 - Sequence 19674 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NFA2 (Reactome details) participates in the following event(s):

R-HSA-5668714 RAC1:GTP binds NOX1 complex
R-HSA-5668718 NOX1 complex:RAC1:GTP generates superoxide from oxygen
R-HSA-5668599 RHO GTPases Activate NADPH Oxidases
R-HSA-195258 RHO GTPase Effectors
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000356120.1, ENST00000356120.2, ENST00000356120.3, ENST00000356120.4, ENST00000356120.5, ENST00000356120.6, ENST00000356120.7, ENST00000356120.8, NM_172167, NOXO1_HUMAN, P41NOX, Q86YM1, Q8NFA2, Q8NFA3, Q96B73, SH3PXD5, uc317zkf.1, uc317zkf.2
UCSC ID: ENST00000356120.9_14
RefSeq Accession: NM_172167.3
Protein: Q8NFA2 (aka NOXO1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.