• Gene id: 6307

Gene Summary

• Gene Symbol: MSMO1   Gene   UCSC   Ensembl
• Aliases: DESP4, ERG25, MCCPD, SC4MOL
• Gene name: methylsterol monooxygenase 1
• Alternate names: methylsterol monooxygenase 1, C-4 methylsterol oxidase,
• Gene location: 4q32.3 (165327665: 165343163)     Exons: 6     NC_000004.12
• Gene summary(Entrez): Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localiz
• OMIM: 607545

Protein Summary

• Protein general information: Q15800  
  • Name: Methylsterol monooxygenase 1 (EC 1.14.18.9) (C 4 methylsterol oxidase)
  • Length: 293  
  • Mass: 35216
• Sequence:

  MATNESVSIFSSASLAVEYVDSLLPENPLQEPFKNAWNYMLNNYTKFQIATWGSLIVHEALYFLFCLPGFLFQFI
  PYMKKYKIQKDKPETWENQWKCFKVLLFNHFCIQLPLICGTYYFTEYFNIPYDWERMPRWYFLLARCFGCAVIED
  TWHYFLHRLLHHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETI
  DVHSGYDIPLNPLNLIPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE

• Structural information:
  • Protein Domains: (145..27-)
    hydroxylase (/note="Fatty-acid)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR006694  
  • STRING: ENSP00000261507
• Other Databases: GeneCards:  MSMO1  Malacards:  MSMO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0000254	C-4 methylsterol oxidase activity	IBA	molecular function
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:0055114	oxidation-reduction process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0000254	C-4 methylsterol oxidase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006631	fatty acid metabolic process	TAS	biological process
GO:0008202	steroid metabolic process	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0000254	C-4 methylsterol oxidase activity	IEA	molecular function
GO:0000254	C-4 methylsterol oxidase activity	TAS	molecular function
GO:0000254	C-4 methylsterol oxidase 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: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: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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Microcephaly syndrome	KEGG:H02132
Microcephaly syndrome	KEGG:H02132
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray