• Gene id: 6309

Gene Summary

• Gene Symbol: SC5D   Gene   UCSC   Ensembl
• Aliases: ERG3, S5DES, SC5DL
• Gene name: sterol-C5-desaturase
• Alternate names: lathosterol oxidase, 3beta-hydroxysteroid-delta5-desaturase, C-5 sterol desaturase, delta(7)-sterol 5(6)-desaturase, delta(7)-sterol 5-desaturase, delta(7)-sterol C5(6)-desaturase, fungal ERG3, delta-5-desaturase-like, lathosterol 5-desaturase, lathosterol dehydr,
• Gene location: 11q23.3-q24.1 (121292770: 121313409)     Exons: 6     NC_000011.10
• Gene summary(Entrez): This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants enc
• OMIM: 602286

Protein Summary

• Protein general information: O75845  
  • Name: Lathosterol oxidase (EC 1.14.19.20) (C 5 sterol desaturase) (Delta(7) sterol 5 desaturase) (Delta(7) sterol C5(6) desaturase) (Lathosterol 5 desaturase) (Sterol C5 desaturase)
  • Length: 299  
  • Mass: 35301
• Sequence:

  MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLKNQVRR
  EIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRGLHHRLVYKRL
  HKPHHIWKIPTPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFING
  SAHHTDHHMFFDYNYGQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTKTE

• Structural information:
  • Protein Domains: (124..25-)
    hydroxylase (/note="Fatty-acid)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR006694  
  • STRING: ENSP00000264027
• Other Databases: GeneCards:  SC5D  Malacards:  SC5D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005506	iron ion binding	IEA	molecular function
GO:0008610	lipid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000248	C-5 sterol desaturase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0033490	cholesterol biosynthetic process via lathosterol	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0000248	C-5 sterol desaturase activity	IBA	molecular function
GO:0000248	C-5 sterol desaturase activity	EXP	molecular function
GO:0000248	C-5 sterol desaturase activity	EXP	molecular function
GO:0033489	cholesterol biosynthetic process via desmosterol	TAS	biological process
GO:0033490	cholesterol biosynthetic process via lathosterol	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0033490	cholesterol biosynthetic process via lathosterol	IEA	biological process
GO:0000248	C-5 sterol desaturase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Lathosterolosis	KEGG:H01281
Lathosterolosis	KEGG:H01281
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray