Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10858
Gene name	Cytochrome P450 family 46 subfamily A member 1
Gene symbol	CYP46A1
Synonyms (NCBI Gene)	CP46CYP46
Chromosome	14
Chromosome location	14q32.2
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 r

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miRTarBase ID	miRNA	Experiments
MIRT921586	hsa-let-7a	CLIP-seq
MIRT921587	hsa-let-7b	CLIP-seq
MIRT921588	hsa-let-7c	CLIP-seq
MIRT921589	hsa-let-7d	CLIP-seq
MIRT921590	hsa-let-7e	CLIP-seq
MIRT921591	hsa-let-7f	CLIP-seq
MIRT921592	hsa-let-7g	CLIP-seq
MIRT921593	hsa-let-7i	CLIP-seq
MIRT921594	hsa-miR-1254	CLIP-seq
MIRT921595	hsa-miR-125a-3p	CLIP-seq
MIRT921596	hsa-miR-1293	CLIP-seq
MIRT921597	hsa-miR-2467-3p	CLIP-seq
MIRT921598	hsa-miR-3116	CLIP-seq
MIRT921599	hsa-miR-3152-3p	CLIP-seq
MIRT921600	hsa-miR-3177-3p	CLIP-seq
MIRT921601	hsa-miR-3179	CLIP-seq
MIRT921602	hsa-miR-3612	CLIP-seq
MIRT921603	hsa-miR-4254	CLIP-seq
MIRT921604	hsa-miR-4257	CLIP-seq
MIRT921605	hsa-miR-4294	CLIP-seq
MIRT921606	hsa-miR-4302	CLIP-seq
MIRT921607	hsa-miR-4419a	CLIP-seq
MIRT921608	hsa-miR-4443	CLIP-seq
MIRT921609	hsa-miR-4458	CLIP-seq
MIRT921610	hsa-miR-4461	CLIP-seq
MIRT921611	hsa-miR-4483	CLIP-seq
MIRT921612	hsa-miR-4500	CLIP-seq
MIRT921613	hsa-miR-4510	CLIP-seq
MIRT921614	hsa-miR-4694-5p	CLIP-seq
MIRT921615	hsa-miR-4697-3p	CLIP-seq
MIRT921616	hsa-miR-4722-3p	CLIP-seq
MIRT921617	hsa-miR-4729	CLIP-seq
MIRT921618	hsa-miR-505	CLIP-seq
MIRT921619	hsa-miR-541	CLIP-seq
MIRT921620	hsa-miR-552	CLIP-seq
MIRT921621	hsa-miR-564	CLIP-seq
MIRT921622	hsa-miR-650	CLIP-seq
MIRT921623	hsa-miR-654-5p	CLIP-seq
MIRT921624	hsa-miR-661	CLIP-seq
MIRT921625	hsa-miR-877	CLIP-seq
MIRT921626	hsa-miR-922	CLIP-seq
MIRT921627	hsa-miR-98	CLIP-seq
MIRT1973034	hsa-miR-3184	CLIP-seq
MIRT1973035	hsa-miR-3611	CLIP-seq
MIRT1973036	hsa-miR-423-5p	CLIP-seq
MIRT1973037	hsa-miR-4455	CLIP-seq
MIRT1973038	hsa-miR-4690-5p	CLIP-seq
MIRT2208687	hsa-miR-3158-3p	CLIP-seq
MIRT2208688	hsa-miR-3689d	CLIP-seq
MIRT2208689	hsa-miR-432	CLIP-seq
MIRT921608	hsa-miR-4443	CLIP-seq
MIRT2208690	hsa-miR-4721	CLIP-seq
MIRT2208691	hsa-miR-4779	CLIP-seq
MIRT2208692	hsa-miR-765	CLIP-seq

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Transcription factor	Regulation	Reference
SP3	Unknown	20930312

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	10377398
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IBA
GO:0006707	Process	Cholesterol catabolic process	IDA	14640697, 18621681, 25017465
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0006707	Process	Cholesterol catabolic process	ISS
GO:0006707	Process	Cholesterol catabolic process	TAS	10377398
GO:0006805	Process	Xenobiotic metabolic process	IDA	20667828
GO:0007399	Process	Nervous system development	TAS	10377398
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008207	Process	C21-steroid hormone metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	IDA	14640697
GO:0008395	Function	Steroid hydroxylase activity	TAS	10377398
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	18621681, 20667828, 23288837
GO:0020037	Function	Heme binding	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0033781	Function	Cholesterol 24-hydroxylase activity	IBA
GO:0033781	Function	Cholesterol 24-hydroxylase activity	IDA	14640697, 18621681, 25017465
GO:0033781	Function	Cholesterol 24-hydroxylase activity	IEA
GO:0033781	Function	Cholesterol 24-hydroxylase activity	TAS
GO:0042448	Process	Progesterone metabolic process	IDA	14640697
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050649	Function	Testosterone 6-beta-hydroxylase activity	IEA
GO:0062184	Function	Testosterone 16-beta-hydroxylase activity	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098794	Component	Postsynapse	ISS
GO:1900271	Process	Regulation of long-term synaptic potentiation	IEA
GO:1900271	Process	Regulation of long-term synaptic potentiation	ISS
GO:1903044	Process	Protein localization to membrane raft	IEA
GO:1903044	Process	Protein localization to membrane raft	ISS

MIM	HGNC	e!Ensembl
604087	2641	ENSG00000036530

Q9Y6A2

Protein name

Cholesterol 24-hydroxylase (CH24H) (EC 1.14.14.25) (Cholesterol 24-monooxygenase) (Cholesterol 24S-hydroxylase) (Cytochrome P450 46A1)

Protein 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

PDB

2Q9F , 2Q9G , 3MDM , 3MDR , 3MDT , 3MDV , 4ENH , 4FIA , 4J14 , 7LRL , 7LS3 , 7LS4 , 7N3L , 7N3M , 7N6F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	34 → 484	Cytochrome P450	Domain

Tissue specificity

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:0000269|Pu

Sequence

MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLGHLPCFWKKDEVGGRVL
QDVFLDWAKKYGPVVRVNVFHKTSVIVTSPESVKKFLMSTKYNKDSKMYRALQTVFGERL
FGQGLVSECNYERWHKQRRVIDLAFSRSSLVSLMETFNEKAEQLVEILEAKADGQTPVSM
QDMLTYTAMDILAKAAFGMETSMLLGAQKPLSQAVKLMLEGITASRNTLAKFLPGKRKQL
REVRESIRFLRQVGRDWVQRRREALKRGEEVPADILTQILKAEEGAQDDEGLLDNFVTFF
IAGHETSANHLAFTVMELSRQPEIVARLQAEVDEVIGSKRYLDFEDLGRLQYLSQVLKES
LRLYPPAWGTFRLLEEETLIDGVRVPGNTPLLFSTYVMGRMDTYFEDPLTFNPDRFGPGA
PKPRFTYFPFSLGHRSCIGQQFAQMEVKVVMAKLLQRLEFRLVPGQRFGLQEQATLKPLD
PVLCTLRPRGWQPAPPPPPC

Sequence length

500

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis		Synthesis of bile acids and bile salts via 24-hydroxycholesterol Endogenous sterols

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary disease, chronic obstructive, susceptibility to	protective	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	19286353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22977134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	15165699, 16734927, 19553612, 19647891, 20193040, 27056331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	19286353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	15450677, 16055229, 16340204, 22528464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	19286353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	19286353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	19286353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	15034781, 15331159, 31063705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37491786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	26795600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	18511756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	15165699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27341022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27341022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28986123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28206854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	19286353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	19553612, 21386929, 27162448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	19553612, 21386929, 22773901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31777202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31777202	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31777202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31777202	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30107216, 31286142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15165699, 21729100, 24924840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	31001737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28986123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24924840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	16340204, 18511756, 22453181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28578430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31777202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	19553612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31286142, 31541728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	19286353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	15148325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	26358780		★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP46A1 (cytochrome P450 family 46 subfamily A member 1)