• Gene id: 10858

Gene Summary

• Gene Symbol: CYP46A1   Gene   UCSC   Ensembl
• Aliases: CP46, CYP46
• Gene name: cytochrome P450 family 46 subfamily A member 1
• Alternate names: cholesterol 24-hydroxylase, CH24H, cholesterol 24-monooxygenase, cholesterol 24S-hydroxylase, cytochrome P450 46A1, cytochrome P450, family 46, subfamily A, polypeptide 1, cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase),
• Gene location: 14q32.2 (99684261: 99727320)     Exons: 18     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic r
• OMIM: 123889

Protein Summary

• Protein general information: Q9Y6A2  
  • Name: Cholesterol 24 hydroxylase (CH24H) (EC 1.14.14.25) (Cholesterol 24 monooxygenase) (Cholesterol 24S hydroxylase) (Cytochrome P450 46A1)
  • Length: 500  
  • Mass: 56821
  • Tissue specificity: Expressed in brain. The mRNA was broadly distributed with higher levels in gray matter zones and lower levels in regions rich in white matter. Not detected in fetal sample but its expression increases linearly with age. {ECO
• Sequence:

  MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLGHLPCFWKKDEVGGRVLQDVFLDWAKKYGPVV
  RVNVFHKTSVIVTSPESVKKFLMSTKYNKDSKMYRALQTVFGERLFGQGLVSECNYERWHKQRRVIDLAFSRSSL
  VSLMETFNEKAEQLVEILEAKADGQTPVSMQDMLTYTAMDILAKAAFGMETSMLLGAQKPLSQAVKLMLEGITAS
  RNTLAKFLPGKRKQLREVRESIRFLRQVGRDWVQRRREALKRGEEVPADILTQILKAEEGAQDDEGLLDNFVTFF
  IAGHETSANHLAFTVMELSRQPEIVARLQAEVDEVIGSKRYLDFEDLGRLQYLSQVLKESLRLYPPAWGTFRLLE
  EETLIDGVRVPGNTPLLFSTYVMGRMDTYFEDPLTFNPDRFGPGAPKPRFTYFPFSLGHRSCIGQQFAQMEVKVV
  MAKLLQRLEFRLVPGQRFGLQEQATLKPLDPVLCTLRPRGWQPAPPPPPC

• Structural information:
  • Interpro: IPR039983  IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • PDB: 2Q9F 2Q9G 3MDM 3MDR 3MDT 3MDV 4ENH 4FIA 4J14
  • PDBsum: 2Q9F 2Q9G 3MDM 3MDR 3MDT 3MDV 4ENH 4FIA 4J14
  • STRING: ENSP00000261835
• Other Databases: GeneCards:  CYP46A1  Malacards:  CYP46A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006707	cholesterol catabolic process	IEA	biological process
GO:0008207	C21-steroid hormone metabolic process	IEA	biological process
GO:0006707	cholesterol catabolic process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0033781	cholesterol 24-hydroxylase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:1903044	protein localization to membrane raft	ISS	biological process negative effect
GO:0006707	cholesterol catabolic process	ISS	biological process
GO:0020037	heme binding	IBA	molecular function
GO:0033781	cholesterol 24-hydroxylase activity	IBA	molecular function
GO:0006707	cholesterol catabolic process	IBA	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0006707	cholesterol catabolic process	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0033781	cholesterol 24-hydroxylase activity	IEA	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0033781	cholesterol 24-hydroxylase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:1900271	regulation of long-term synaptic potentiation	IEA	biological process
GO:0006707	cholesterol catabolic process	IEA	biological process
GO:0033781	cholesterol 24-hydroxylase activity	IEA	molecular function
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0033781	cholesterol 24-hydroxylase activity	IDA	molecular function
GO:0006707	cholesterol catabolic process	IDA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0042448	progesterone metabolic process	IDA	biological process
GO:0008395	steroid hydroxylase activity	IDA	molecular function
GO:0033781	cholesterol 24-hydroxylase activity	IDA	molecular function
GO:0006707	cholesterol catabolic process	IDA	biological process
GO:0006707	cholesterol catabolic process	IDA	biological process
GO:0033781	cholesterol 24-hydroxylase activity	IDA	molecular function
GO:0098794	postsynapse	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:1900271	regulation of long-term synaptic potentiation	ISS	biological process
GO:0098793	presynapse	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00120	Primary bile acid biosynthesis

Diseases

Associated diseases	References
Alzheimer's disease	PMID:12232784
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray