• Gene id: 4047

Gene Summary

• Gene Symbol: LSS   Gene   UCSC   Ensembl
• Aliases: APMR4, CTRCT44, HYPT14, OSC
• Gene name: lanosterol synthase
• Alternate names: lanosterol synthase, 2,3-epoxysqualene-lanosterol cyclase, epididymis secretory sperm binding protein, hOSC, lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase), oxidosqualene--lanosterol cyclase,
• Gene location: 21q22.3 (7834209: 7854795)     Exons: 28     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and v
• OMIM: 600909

Protein Summary

• Protein general information: P48449  
  • Name: Lanosterol synthase (EC 5.4.99.7) (2,3 epoxysqualene lanosterol cyclase) (Oxidosqualene lanosterol cyclase) (OSC) (hOSC)
  • Length: 732  
  • Mass: 83309
  • Tissue specificity: Widely expressed. Expressed in the hair bulb, the outer root sheath and hair matrix of the hair follicle epithelium. Also detected in dermal papilla, epidermis, sweat glands, sebaceous glands, and blood vessels. {ECO
• Sequence:

  MTEGTCLRRRGGPYKTEPATDLGRWRLNCERGRQTWTYLQDERAGREQTGLEAYALGLDTKNYFKDLPKAHTAFE
  GALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPAGYREEIVRYLRSVQLPDGGWGLHIEDKST
  VFGTALNYVSLRILGVGPDDPDLVRARNILHKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAH
  PSTLWCHCRQVYLPMSYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALL
  NLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQEHVSRIPDYLWMGLDG
  MKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRLSQVPDNPPDYQKYYRQMRKGGFSFSTLDCG
  WIVSDCTAEALKAVLLLQEKCPHVTEHIPRERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIM
  IDYTYVECTSAVMQALKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMG
  QTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLMAVRHPDIEAQERGVR
  CLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFSQLYPERALAGHP

• Structural information:
  • Interpro: IPR032696  IPR032697  IPR018333  IPR002365  IPR008930  
  • Prosite: PS01074
  • CDD: cd02892
  • PDB: 1W6J 1W6K
  • PDBsum: 1W6J 1W6K
  • STRING: ENSP00000380837
• Other Databases: GeneCards:  LSS  Malacards:  LSS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0005811	lipid droplet	IBA	cellular component
GO:0000250	lanosterol synthase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0006694	steroid biosynthetic process	IMP	biological process
GO:0000250	lanosterol synthase activity	IMP	molecular function
GO:0031647	regulation of protein stability	IMP	biological process
GO:0000250	lanosterol synthase activity	IGI	molecular function
GO:0005811	lipid droplet	IEA	cellular component
GO:0016866	intramolecular transferase activity	IEA	molecular function
GO:0000250	lanosterol synthase activity	IEA	molecular function
GO:0016104	triterpenoid biosynthetic process	IEA	biological process
GO:0042300	beta-amyrin synthase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000250	lanosterol synthase activity	IEA	molecular function
GO:0000250	lanosterol synthase activity	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006695	cholesterol biosynthetic process	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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