• Gene id: 6713

Gene Summary

• Gene Symbol: SQLE   Gene   UCSC   Ensembl
• Gene name: squalene epoxidase
• Alternate names: squalene monooxygenase, SE,
• Gene location: 8q24.13 (124998504: 125022282)     Exons: 5     NC_000008.11
• Gene summary(Entrez): Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]
• OMIM: 602019

Protein Summary

• Protein general information: Q14534  
  • Name: Squalene monooxygenase (EC 1.14.14.17) (Squalene epoxidase) (SE)
  • Length: 574  
  • Mass: 63923
  • Tissue specificity: Detected in liver (at protein level). {ECO
• Sequence:

  MWTFLGIATFTYFYKKFGDFITLANREVLLCVLVFLSLGLVLSYRCRHRNGGLLGRQQSGSQFALFSDILSGLPF
  IGFFWAKSPPESENKEQLEARRRRKGTNISETSLIGTAACTSTSSQNDPEVIIVGAGVLGSALAAVLSRDGRKVT
  VIERDLKEPDRIVGEFLQPGGYHVLKDLGLGDTVEGLDAQVVNGYMIHDQESKSEVQIPYPLSENNQVQSGRAFH
  HGRFIMSLRKAAMAEPNAKFIEGVVLQLLEEDDVVMGVQYKDKETGDIKELHAPLTVVADGLFSKFRKSLVSNKV
  SVSSHFVGFLMKNAPQFKANHAELILANPSPVLIYQISSSETRVLVDIRGEMPRNLREYMVEKIYPQIPDHLKEP
  FLEATDNSHLRSMPASFLPPSSVKKRGVLLLGDAYNMRHPLTGGGMTVAFKDIKLWRKLLKGIPDLYDDAAIFEA
  KKSFYWARKTSHSFVVNILAQALYELFSATDDSLHQLRKACFLYFKLGGECVAGPVGLLSVLSPNPLVLIGHFFA
  VAIYAVYFCFKSEPWITKPRALLSSGAVLYKACSVIFPLIYSEMKYMVH

• Structural information:
  • Interpro: IPR036188  IPR013698  IPR040125  
  • PDB: 6C6N 6C6P 6C6R
  • PDBsum: 6C6N 6C6P 6C6R
  • STRING: ENSP00000265896
• Other Databases: GeneCards:  SQLE  Malacards:  SQLE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0004506	squalene monooxygenase activity	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0071949	FAD binding	IDA	molecular function
GO:0016126	sterol biosynthetic process	IDA	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0004506	squalene monooxygenase activity	IDA	molecular function
GO:0042127	regulation of cell population proliferation	IMP	biological process
GO:0140042	lipid droplet formation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004506	squalene monooxygenase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004506	squalene monooxygenase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	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:0010033	response to organic substance	IEA	biological process
GO:0006725	cellular aromatic compound metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0004506	squalene monooxygenase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	NAS	biological process
GO:0004506	squalene monooxygenase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray