General Information of the Protein
Protein ID |
PT04604
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Protein Name |
Cholesterol 24-hydroxylase
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Secondarily Protein Name |
Cholesterol 24-monooxygenase
Cholesterol 24S-hydroxylase
Cytochrome P450 46A1
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Gene Name |
CYP46A1
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Secondarily Gene Name |
CYP46
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Sequence |
MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLGHLPCFWKKDEVGGRVLQDVFLDWAKKYGPVVRVNVFHKTSVIVTSPESVKKFLMSTKYNKDSKMYRALQTVFGERLFGQGLVSECNYERWHKQRRVIDLAFSRSSLVSLMETFNEKAEQLVEILEAKADGQTPVSMQDMLTYTAMDILAKAAFGMETSMLLGAQKPLSQAVKLMLEGITASRNTLAKFLPGKRKQLREVRESIRFLRQVGRDWVQRRREALKRGEEVPADILTQILKAEEGAQDDEGLLDNFVTFFIAGHETSANHLAFTVMELSRQPEIVARLQAEVDEVIGSKRYLDFEDLGRLQYLSQVLKESLRLYPPAWGTFRLLEEETLIDGVRVPGNTPLLFSTYVMGRMDTYFEDPLTFNPDRFGPGAPKPRFTYFPFSLGHRSCIGQQFAQMEVKVVMAKLLQRLEFRLVPGQRFGLQEQATLKPLDPVLCTLRPRGWQPAPPPPPC
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Organism |
Homo sapiens, Human
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Protein Classification |
Enzyme
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Oxidoreductase
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Function |
P450 monooxygenase that plays a major role in cholesterol homeostasis in the brain. Primarily catalyzes the hydroxylation (with S stereochemistry) at C-24 of cholesterol side chain, triggering cholesterol diffusion out of neurons and its further degradation (PubMed:10377398, PubMed:14640697, PubMed:25017465, PubMed:18621681). By promoting constant cholesterol elimination in neurons, may activate the mevalonate pathway and coordinate the synthesis of new cholesterol and nonsterol isoprenoids involved in synaptic activity and learning (By similarity). Further hydroxylates cholesterol derivatives and hormone steroids on both the ring and side chain of these molecules, converting them into active oxysterols involved in lipid signaling and biosynthesis (PubMed:12077124, PubMed:14640697, PubMed:28190002). Acts as an epoxidase converting cholesta-5,24-dien-3beta-ol/desmosterol into (24S),25-epoxycholesterol, an abundant lipid ligand of nuclear NR1H2 and NR1H3 receptors shown to promote neurogenesis in developing brain (PubMed:25017465). May also catalyze the oxidative metabolism of xenobiotics, such as clotrimazole (PubMed:20667828).
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Uniprot ID |
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HGNC ID | |||||
Subcellular Location |
Endoplasmic reticulum membrane
Microsome membrane
Postsynapse
Presynapse
Cell projection
Dendrite
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Map of Molecular Bioactivity Related to the Protein
Map of Molecular Bioactivity Related to the Protein Protein Cell Line Compound Bioactivity Value: <= 0.1 μM > 0.1 μM and <= 10 μM > 10 μM Imprecise Activity |
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Table of Molecular Bioactivities Related to the Protein
Cell Line ID: CL000131 , HEK293-F
Clinical Information about the Protein
Target 1 ( Cholesterol 24-hydroxylase (CYP46A1) )
Target Type | Clinical trial Target | ||||
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Disease | 1 Target-related Disease | 1 | |||
1 | Dravet syndrome [ICD-11: 8A61.11] | ||||
Clinical Trial Drug(s) | 1 Clinical Trial Drug | 1 | |||
1 | TAK-935 | Phase 2 |
Target 2 ( Cholesterol 24-monooxygenase (CYP46A1) )
Target Type | Discontinued Target |
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