• Gene id: 29785

Gene Summary

• Gene Symbol: CYP2S1   Gene   UCSC   Ensembl
• Aliases: CYPIIS1
• Gene name: cytochrome P450 family 2 subfamily S member 1
• Alternate names: cytochrome P450 2S1, cytochrome P450, family 2, subfamily S, polypeptide 1, cytochrome P540, subfamily IIS, polypeptide 1, hydroperoxy icosatetraenoate dehydratase, thromboxane-A synthase,
• Gene location: 19q13.2 (41193218: 41207538)     Exons: 9     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein local
• OMIM: 604600

Protein Summary

• Protein general information: Q96SQ9  
  • Name: Cytochrome P450 2S1 (EC 1.14.14. ) (CYPIIS1) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152) (Thromboxane A synthase) (EC 5.3.99.5)
  • Length: 504  
  • Mass: 55817
  • Tissue specificity: Expressed at higher levels in extrahepatic tissues including trachea, lung, stomach, small intestine, colon, kidney, breast, placenta and spleen (PubMed
• Sequence:

  MEATGTWALLLALALLLLLTLALSGTRARGHLPPGPTPLPLLGNLLQLRPGALYSGLMRLSKKYGPVFTIYLGPW
  RPVVVLVGQEAVREALGGQAEEFSGRGTVAMLEGTFDGHGVFFSNGERWRQLRKFTMLALRDLGMGKREGEELIQ
  AEARCLVETFQGTEGRPFDPSLLLAQATSNVVCSLLFGLRFSYEDKEFQAVVRAAGGTLLGVSSQGGQTYEMFSW
  FLRPLPGPHKQLLHHVSTLAAFTVRQVQQHQGNLDASGPARDLVDAFLLKMAQEEQNPGTEFTNKNMLMTVIYLL
  FAGTMTVSTTVGYTLLLLMKYPHVQKWVREELNRELGAGQAPSLGDRTRLPYTDAVLHEAQRLLALVPMGIPRTL
  MRTTRFRGYTLPQGTEVFPLLGSILHDPNIFKHPEEFNPDRFLDADGRFRKHEAFLPFSLGKRVCLGEGLAKAEL
  FLFFTTILQAFSLESPCPPDTLSLKPTVSGLFNIPPAFQLQVRPTDLHSTTQTR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR008067  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000308032
• Other Databases: GeneCards:  CYP2S1  Malacards:  CYP2S1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006082	organic acid metabolic process	IBA	biological process
GO:0006805	xenobiotic metabolic process	IBA	biological process
GO:0008392	arachidonic acid epoxygenase activity	IBA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0019373	epoxygenase P450 pathway	IBA	biological process
GO:0042738	exogenous drug catabolic process	IBA	biological process
GO:0042573	retinoic acid metabolic process	IDA	biological process
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0006693	prostaglandin metabolic process	IDA	biological process
GO:0006690	icosanoid metabolic process	IDA	biological process
GO:0004796	thromboxane-A synthase activity	IDA	molecular function
GO:0016836	hydro-lyase activity	IDA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016829	lyase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0106256	hydroperoxy icosatetraenoate dehydratase activity	IEA	molecular function
GO:0004796	thromboxane-A synthase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R