Homo sapiens Gene: CYP46A1
Summary
InnateDB Gene IDBG-19788.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYP46A1
Gene Name cytochrome P450, family 46, subfamily A, polypeptide 1
Synonyms CP46; CYP46;
Species Homo sapiens
Ensembl Gene ENSG00000036530
Encoded Proteins
cytochrome P450, family 46, subfamily A, polypeptide 1
cytochrome P450, family 46, subfamily A, polypeptide 1
cytochrome P450, family 46, subfamily A, polypeptide 1
cytochrome P450, family 46, subfamily A, polypeptide 1
cytochrome P450, family 46, subfamily A, polypeptide 1
cytochrome P450, family 46, subfamily A, polypeptide 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:99684304-99727301
Strand Forward strand
Band q32.2
Transcripts
ENST00000261835 ENSP00000261835
ENST00000380228 ENSP00000369577
ENST00000554611 ENSP00000451069
ENST00000554176 ENSP00000450553
ENST00000554917 ENSP00000452151
ENST00000556313 ENSP00000451602
ENST00000556822
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0008395 steroid hydroxylase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037 heme binding
GO:0033781 cholesterol 24-hydroxylase activity
Biological Process
GO:0006699 bile acid biosynthetic process
GO:0006707 cholesterol catabolic process
GO:0006805 xenobiotic metabolic process
GO:0007399 nervous system development
GO:0008206 bile acid metabolic process
GO:0016125 sterol metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Bile acid and bile salt metabolism pathway
Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway
Cytochrome P450 - arranged by substrate type pathway
Endogenous sterols pathway
Synthesis of bile acids and bile salts pathway
Metabolism pathway
Biological oxidations pathway
Phase 1 - Functionalization of compounds pathway
KEGG
Primary bile acid biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.25121
RefSeq NM_006668 XM_005267274
HUGO
OMIM
CCDS CCDS9954
HPRD 04970
IMGT
EMBL
GenPept
RNA Seq Atlas