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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1581
Gene name	Cytochrome P450 family 7 subfamily A member 1
Gene symbol	CYP7A1
Synonyms (NCBI Gene)	CP7ACYP7CYPVII
Chromosome	8
Chromosome location	8q12.1
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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SNP ID	Visualize variation	Clinical significance	Consequence
rs147162838	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000469	hsa-miR-422a	qRT-PCRLuciferase reporter assay	20351063
MIRT000012	hsa-miR-122-5p	qRT-PCRLuciferase reporter assay	20351063
MIRT000012	hsa-miR-122-5p	qRT-PCRLuciferase reporter assay	20351063
MIRT000469	hsa-miR-422a	qRT-PCRLuciferase reporter assay	20351063
MIRT000469	hsa-miR-422a	qRT-PCRLuciferase reporter assay	20351063
MIRT018408	hsa-miR-335-5p	Microarray	18185580
MIRT048926	hsa-miR-92a-3p	CLASH	23622248
MIRT921896	hsa-miR-3613-5p	CLIP-seq
MIRT921897	hsa-miR-4310	CLIP-seq
MIRT921898	hsa-miR-4672	CLIP-seq
MIRT921899	hsa-miR-548ag	CLIP-seq
MIRT921900	hsa-miR-548ai	CLIP-seq
MIRT921901	hsa-miR-548m	CLIP-seq
MIRT921902	hsa-miR-548p	CLIP-seq
MIRT1973068	hsa-miR-1343	CLIP-seq
MIRT1973069	hsa-miR-3545-3p	CLIP-seq
MIRT1973070	hsa-miR-3663-5p	CLIP-seq
MIRT1973071	hsa-miR-378g	CLIP-seq
MIRT1973072	hsa-miR-4437	CLIP-seq
MIRT1973073	hsa-miR-4635	CLIP-seq
MIRT1973074	hsa-miR-4674	CLIP-seq
MIRT1973075	hsa-miR-4680-5p	CLIP-seq
MIRT2465167	hsa-miR-4422	CLIP-seq
MIRT2465168	hsa-miR-4803	CLIP-seq

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Transcription factor	Regulation	Reference
DBP	Activation	8617210
HDAC7	Unknown	17654698
HNF4A	Repression	23626788
NR0B2	Unknown	15358835;15581596
NR1H4	Repression	17135343
PPARGC1A	Activation	16891307
PROX1	Repression	23626788
RXRA	Unknown	19106115
SMAD3	Repression	17920062
SP1	Unknown	9875228
VDR	Repression	19106115;20371703

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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: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	IBA
GO:0006699	Process	Bile acid biosynthetic process	IDA	19965590
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	ISS
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0006707	Process	Cholesterol catabolic process	ISS
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	IBA
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	IDA	12077124
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	IEA
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	ISS
GO:0008123	Function	Cholesterol 7-alpha-monooxygenase activity	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	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	IEA
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IEA
GO:0033782	Function	24S-hydroxycholesterol 7-alpha-hydroxylase activity	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	ISS
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IEA
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070857	Process	Regulation of bile acid biosynthetic process	IDA	19965590
GO:0070857	Process	Regulation of bile acid biosynthetic process	IEA
GO:0070857	Process	Regulation of bile acid biosynthetic process	ISS
GO:0071333	Process	Cellular response to glucose stimulus	IDA	19965590
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071397	Process	Cellular response to cholesterol	IEA
GO:0071397	Process	Cellular response to cholesterol	ISS

MIM	HGNC	e!Ensembl
118455	2651	ENSG00000167910

P22680

Protein name

Cytochrome P450 7A1 (24-hydroxycholesterol 7-alpha-hydroxylase) (EC 1.14.14.26) (CYPVII) (Cholesterol 7-alpha-hydroxylase) (Cholesterol 7-alpha-monooxygenase) (EC 1.14.14.23)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643, PubMed:2384150). Mechanistically, uses molecula

PDB

3DAX , 3SN5 , 3V8D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	32 → 497	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in liver. {ECO:0000269|PubMed:15796896}.

Sequence

MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQ
RKHGHVFTCKLMGKYVHFITNPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGN
TTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSNSKTAAWVTEGMYSFCYRVMF
EAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAE
SLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQ
MIRNPEAMKAATEEVKRTLENAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSAS
LNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEIYPDPLTFKYDRYLDENGKTK
TTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLD
QSRAGLGILPPLNDIEFKYKFKHL

Sequence length

504

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Steroid hormone biosynthesis Metabolic pathways PPAR signaling pathway Bile secretion Cholesterol metabolism		Synthesis of bile acids and bile salts Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 27-hydroxycholesterol PPARA activates gene expression Endogenous sterols

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs8192875	RCV005921072
CYP7A1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs545609682, rs2487042067, rs138113674, rs151122002, rs139396617, rs142708991, rs149291486, rs2487038866, rs150039957, rs574513686, rs1809446315, rs2487046115, rs760194463, rs1246691908, rs375300707 View all (14 more)	RCV004753528 RCV004753592 RCV004752825 RCV003977787 RCV004752828 RCV003940052 RCV003410643 RCV003412223 RCV003402983 RCV003896659 RCV003964665 RCV003982708 RCV003893746 RCV003894481 RCV003901598 RCV003912090 RCV003899067 RCV003899272 RCV003963954 RCV003968980 RCV004752958 RCV003905518 RCV004752962 RCV003935627 RCV003905559 RCV003965508 RCV004753018 RCV003892647 RCV003892662
Gastric cancer	Likely benign	rs77169716	RCV005920854
Hepatocellular carcinoma	Likely benign; Benign	rs77169716, rs8192875	RCV005920852 RCV005921073
Nonpapillary renal cell carcinoma	Likely benign	rs77169716	RCV005920853
Thymoma	Likely benign	rs77169716	RCV005920855

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	22058145
Adrenoleukodystrophy	Associate	30544401
Arteriosclerosis	Associate	16709249
Atherosclerosis	Associate	10508208, 17341815, 18728290
Bile Acid Malabsorption Primary	Associate	18728290, 7852865
Carcinogenesis	Associate	16630139
Carcinoma Hepatocellular	Associate	30354296
Cardiovascular Diseases	Associate	30354296
Cholangiocarcinoma	Associate	28445152
Cholangitis Sclerosing	Associate	28008998
Cholelithiasis	Associate	12093894, 16709249, 19995447
Cholestasis	Associate	28008998
Colonic Diseases	Associate	16630139
Colorectal Neoplasms	Associate	16630139, 22058145
Coronary Artery Disease	Associate	25944972, 30354296
Diabetes Gestational	Associate	37923501
Diabetes Mellitus	Associate	30354296
Diabetes Mellitus Type 2	Associate	26345803
Hepatitis Alcoholic	Associate	29654817
Hypercholesterolemia	Associate	16709249, 17341815, 30709899
Hyperlipidemias	Associate	12093894
Hyperlipoproteinemia Type II	Associate	26936139
Hypertriglyceridemia	Associate	12093894, 16709249
Idiopathic Noncirrhotic Portal Hypertension	Inhibit	26293907
Lipoma	Stimulate	28127194
Liver Cirrhosis Biliary	Associate	28570655
Liver Diseases	Associate	28008998, 28127194, 30122083
Liver Failure	Associate	25798860, 28008998, 39889904
Metabolic Diseases	Associate	12093894, 16709249
Neuromyelitis Optica	Associate	23740208
Non alcoholic Fatty Liver Disease	Associate	28127194, 33324350
Peripheral Vascular Diseases	Associate	12093894
Primary Ovarian Insufficiency	Associate	18782852
Smith Lemli Opitz Syndrome	Associate	24771866
Tuberculosis	Associate	25360185, 29115933
Xanthomatosis Cerebrotendinous	Associate	15576845, 24771866

CYP7A1 (cytochrome P450 family 7 subfamily A member 1)