• Gene id: 9023

Gene Summary

• Gene Symbol: CH25H   Gene   UCSC   Ensembl
• Aliases: C25H
• Gene name: cholesterol 25-hydroxylase
• Alternate names: cholesterol 25-hydroxylase, cholesterol 25-monooxygenase, h25OH,
• Gene location: 10q23.31 (89207316: 89205628)     Exons: 1     NC_000010.11
• Gene summary(Entrez): This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is
• OMIM: 604551

Protein Summary

• Protein general information: O95992  
  • Name: Cholesterol 25 hydroxylase (EC 1.14.99.38) (Cholesterol 25 monooxygenase) (h25OH)
  • Length: 272  
  • Mass: 31745
• Sequence:

  MSCHNCSDPQVLCSSGQLFLQPLWDHLRSWEALLQSPFFPVIFSITTYVGFCLPFVVLDILCSWVPALRRYKIHP
  DFSPSAQQLLPCLGQTLYQHVMFVFPVTLLHWARSPALLPHEAPELLLLLHHILFCLLLFDMEFFVWHLLHHKVP
  WLYRTFHKVHHQNSSSFALATQYMSVWELFSLGFFDMMNVTLLGCHPLTTLTFHVVNIWLSVEDHSGYNFPWSTH
  RLVPFGWYGGVVHHDLHHSHFNCNFAPYFTHWDKILGTLRTASVPAR

• Structural information:
  • Protein Domains: (129..26-)
    hydroxylase (/note="Fatty-acid)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR006694  
  • STRING: ENSP00000360918
• Other Databases: GeneCards:  CH25H  Malacards:  CH25H

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000254	C-4 methylsterol oxidase activity	IBA	molecular function
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0035754	B cell chemotaxis	ISS	biological process
GO:0001567	cholesterol 25-hydroxylase activity	ISS	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:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
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:0016491	oxidoreductase activity	IEA	molecular function
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0001567	cholesterol 25-hydroxylase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001567	cholesterol 25-hydroxylase activity	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008395	steroid hydroxylase activity	IEA	molecular function
GO:0035754	B cell chemotaxis	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00120	Primary bile acid biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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