• Gene id: 5768

Gene Summary

• Gene Symbol: QSOX1   Gene   UCSC   Ensembl
• Aliases: Q6, QSCN6
• Gene name: quiescin sulfhydryl oxidase 1
• Alternate names: sulfhydryl oxidase 1, quiescin Q6 sulfhydryl oxidase 1, testis tissue sperm-binding protein Li 62n, thiol oxidase 1,
• Gene location: 1q25.2 (139135079: 139180801)     Exons: 4     NC_000006.12
• Gene summary(Entrez): This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene play
• OMIM: 603120

Protein Summary

• Protein general information: O00391  
  • Name: Sulfhydryl oxidase 1 (hQSOX) (EC 1.8.3.2) (Quiescin Q6)
  • Length: 747  
  • Mass: 82578
  • Tissue specificity: Expressed in heart, placenta, lung, liver, skeletal muscle, pancreas and very weakly in brain and kidney. {ECO
• Sequence:

  MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIA
  FAPTWKALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERL
  IDALESHHDTWPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANV
  VRKFGVTDFPSCYLLFRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIY
  MADLESALHYILRIEVGRFPVLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTAL
  DDRKEGAVLAKKVNWIGCQGSEPHFRGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCR
  DCASHFEQMAAASMHRVGSPNAAVLWLWSSHNRVNARLAGAPSEDPQFPKVQWPPRELCSACHNERLDVPVWDVE
  ATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAAAPELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVPAEG
  PEASRPPKLHPGLRAAPGQEPPEHMAELQRNEQEQPLGQWHLSKRDTGAALLAESRAEKNRLWGPLEVRRVGRSS
  KQLVDIPEGQLEARAGRGRGQWLQVLGGGFSYLDISLCVGLYSLSFMGLLAMYTYFQAKIRALKGHAGHPAA

• Structural information:
  • Protein Domains: (36..15-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691-)
    (396..50-)
    oxidase (/note="ERV/ALR-sulfhydryl)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00654"-)
  • Interpro: IPR036774  IPR017905  IPR040986  IPR042568  IPR041269   IPR039798  IPR036249  IPR013766  
  • Prosite: PS51324 PS51352
  • PDB: 3LLI 3LLK 3Q6O 4IJ3
  • PDBsum: 3LLI 3LLK 3Q6O 4IJ3
  • STRING: ENSP00000356574
• Other Databases: GeneCards:  QSOX1  Malacards:  QSOX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016242	negative regulation of macroautophagy	IMP	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0006457	protein folding	IBA	biological process
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0003756	protein disulfide isomerase activity	IBA	molecular function
GO:0016971	flavin-linked sulfhydryl oxidase activity	IBA	molecular function
GO:0071949	FAD binding	IDA	molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0016971	flavin-linked sulfhydryl oxidase activity	IDA	molecular function
GO:0003756	protein disulfide isomerase activity	IDA	molecular function
GO:0085029	extracellular matrix assembly	IMP	biological process
GO:0016972	thiol oxidase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016971	flavin-linked sulfhydryl oxidase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016972	thiol oxidase activity	IEA	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016971	flavin-linked sulfhydryl oxidase activity	IDA	molecular function
GO:0003756	protein disulfide isomerase activity	IDA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R