Gene/Proteome Database (LMPD)

LMPD ID
LMP002143
Gene ID
10858
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 46, subfamily A, polypeptide 1
Gene Symbol
CYP46A1
Synonyms
CP46; CYP46
Alternate Names
cholesterol 24-hydroxylase; CH24H; cytochrome P450 46A1; cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)
Chromosome
14
Map Location
14q32.1
EC Number
1.14.13.98
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]
Orthologs
View orthologs and multiple alignments for CYP46A1

Proteins

cholesterol 24-hydroxylase precursor
Refseq ID NP_006659
Protein GI 5729796
UniProt ID Q9Y6A2
mRNA ID NM_006668
Length 500
RefSeq Status REVIEWED
MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLGHLPCFWKKDEVGGRVLQDVFLDWAKKYGPVVRVNVFHKTSVIVTSPESVKKFLMSTKYNKDSKMYRALQTVFGERLFGQGLVSECNYERWHKQRRVIDLAFSRSSLVSLMETFNEKAEQLVEILEAKADGQTPVSMQDMLTYTAMDILAKAAFGMETSMLLGAQKPLSQAVKLMLEGITASRNTLAKFLPGKRKQLREVRESIRFLRQVGRDWVQRRREALKRGEEVPADILTQILKAEEGAQDDEGLLDNFVTFFIAGHETSANHLAFTVMELSRQPEIVARLQAEVDEVIGSKRYLDFEDLGRLQYLSQVLKESLRLYPPAWGTFRLLEEETLIDGVRVPGNTPLLFSTYVMGRMDTYFEDPLTFNPDRFGPGAPKPRFTYFPFSLGHRSCIGQQFAQMEVKVVMAKLLQRLEFRLVPGQRFGLQEQATLKPLDPVLCTLRPRGWQPAPPPPPC
sig_peptide: 1..28 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2934 peptide sequence: MSPGLLLLGSAVLLAFGLCCTFVHRARS

Gene Information

Entrez Gene ID
10858
Gene Name
cytochrome P450, family 46, subfamily A, polypeptide 1
Gene Symbol
CYP46A1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 TAS:ProtInc C endoplasmic reticulum
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0033781 IDA:UniProtKB F cholesterol 24-hydroxylase activity
GO:0020037 IDA:UniProtKB F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0008395 TAS:ProtInc F steroid hydroxylase activity
GO:0006699 TAS:Reactome P bile acid biosynthetic process
GO:0008206 TAS:Reactome P bile acid metabolic process
GO:0006707 IDA:UniProtKB P cholesterol catabolic process
GO:0007399 TAS:ProtInc P nervous system development
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0016125 TAS:Reactome P sterol metabolic process
GO:0006805 IDA:UniProtKB P xenobiotic metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00120 Primary bile acid biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_11053 Synthesis of bile acids and bile salts via 24-hydroxycholesterol

Domain Information

InterPro Annotations

Accession Description
IPR001128 Cytochrome P450
IPR017972 Cytochrome P450, conserved site
IPR002401 Cytochrome P450, E-class, group I

UniProt Annotations

Entry Information

Gene Name
cytochrome P450, family 46, subfamily A, polypeptide 1
Protein Entry
CP46A_HUMAN
UniProt ID
Q9Y6A2
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y6A2-1; Sequence=Displayed; Name=2; IsoId=Q9Y6A2-2; Sequence=VSP_053859; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y6A2-3; Sequence=VSP_053858, VSP_053860; Note=No experimental confirmation available.;
Biophysicochemical Properties Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol ;
Catalytic Activity Cholesterol + NADPH + O(2) = (24S)-24- hydroxycholesterol + NADP(+) + H(2)O.
Cofactor Name=heme; Xref=ChEBI
Function Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole. {ECO
Similarity Belongs to the cytochrome P450 family.
Subcellular Location Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.
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.

Identical and Related Proteins

Unique RefSeq proteins for LMP002143 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
5729796 RefSeq NP_006659 500 cholesterol 24-hydroxylase precursor

Identical Sequences to LMP002143 proteins

Reference Database Accession Length Protein Name
GI:5729796 EMBL CAX87026.1 500 unnamed protein product [Homo sapiens]
GI:5729796 GenBank AAH22539.1 500 Cytochrome P450, family 46, subfamily A, polypeptide 1 [Homo sapiens]
GI:5729796 GenBank EAW81678.1 500 cytochrome P450, family 46, subfamily A, polypeptide 1 [Homo sapiens]
GI:5729796 GenBank ACM82475.1 500 Sequence 7973 from patent US 6812339
GI:5729796 GenBank AFN91708.1 500 Sequence 2 from patent US 8198257
GI:5729796 GenBank AHE00559.1 500 Sequence 53516 from patent US 8586006

Related Sequences to LMP002143 proteins

Reference Database Accession Length Protein Name
GI:5729796 GenBank AIC55863.1 500 CYP46A1, partial [synthetic construct]
GI:5729796 RefSeq XP_003275421.1 500 PREDICTED: LOW QUALITY PROTEIN: cholesterol 24-hydroxylase-like [Nomascus leucogenys]
GI:5729796 RefSeq XP_003832898.1 500 PREDICTED: cholesterol 24-hydroxylase [Pan paniscus]
GI:5729796 RefSeq XP_003902307.1 500 PREDICTED: cholesterol 24-hydroxylase [Papio anubis]
GI:5729796 RefSeq XP_005562243.1 500 PREDICTED: cholesterol 24-hydroxylase-like isoform X1 [Macaca fascicularis]
GI:5729796 RefSeq XP_007985995.1 500 PREDICTED: cholesterol 24-hydroxylase [Chlorocebus sabaeus]