• Gene id: 124056

Gene Summary

• Gene Symbol: NOXO1   Gene   UCSC   Ensembl
• Aliases: P41NOX, P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28
• Gene name: NADPH oxidase organizer 1
• Alternate names: NADPH oxidase organizer 1, NADPH oxidase regulatory protein, Nox organizer 1, SH3 and PX domain-containing protein 5, nox-organizing protein 1, regulatory protein P41NOX,
• Gene location: 16p13.3 (26490483: 26481395)     Exons: 5     NC_000004.12
• Gene summary(Entrez): 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. [pro
• OMIM: 611256

Protein Summary

• Protein general information: Q8NFA2  
  • Name: NADPH oxidase organizer 1 (NADPH oxidase regulatory protein) (Nox organizer 1) (Nox organizing protein 1) (SH3 and PX domain containing protein 5)
  • Length: 376  
  • Mass: 41253
  • 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. {ECO
• Sequence:

  MAGPRYPVSVQGAALVQIKRLQTFAFSVRWSDGSDTFVRRSWDEFRQLKKTLKETFPVEAGLLRRSDRVLPKLLG
  QASLDAPLLGRVGRTSRGLARLQLLETYSRRLLATAERVARSPTITGFFAPQPLDLEPALPPGSRVILPTPEEQP
  LSRAAGRLSIHSLEAQSLRCLQPFCTQDTRDRPFQAQAQESLDVLLRHPSGWWLVENEDRQTAWFPAPYLEEAAP
  GQGREGGPSLGSSGPQFCASRAYESSRADELSVPAGARVRVLETSDRGWWLCRYGDRAGLLPAVLLRPEGLGALL
  SGTGFRGGDDPAGEARGFPEPSQATAPPPTVPTRPSPGAIQSRCCTVTRRALERRPRRQGRPRGCVDSVPHPTTE
  Q

• Structural information:
  • Protein Domains: (1..13-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (163..22-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (237..29-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR035758  IPR001683  IPR036871  IPR036028  IPR001452  
  • Prosite: PS50195 PS50002
  • CDD: cd12024
  • PDB: 2L73
  • PDBsum: 2L73
  • STRING: ENSP00000380450
• Other Databases: GeneCards:  NOXO1  Malacards:  NOXO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006801	superoxide metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0016176	superoxide-generating NADPH oxidase activator activity	IBA	molecular function
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0043020	NADPH oxidase complex	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006801	superoxide metabolic process	IEA	biological process
GO:0016176	superoxide-generating NADPH oxidase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	TAS	molecular function
GO:0016176	superoxide-generating NADPH oxidase activator activity	TAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0043020	NADPH oxidase complex	IDA	cellular component
GO:0010310	regulation of hydrogen peroxide metabolic process	TAS	biological process
GO:0060263	regulation of respiratory burst	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0022617	extracellular matrix disassembly	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq