CYP7A1 - cytochrome P450 family 7 subfamily A member 1 Gene

Also Known as CP7A; CYP7; CYPVII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1581

About CYP7A1

Cytogenetic location: 8q12.1 Genomic coordinates (GRCh38): 8:58,490,178-58,500,163 (from NCBI)

This gene has 1 transcript (splice variant), 208 orthologues, 2 paralogues and is associated with 1 phenotype. Restricted expression toward liver (RPKM 9.3).

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 membrane protein catalyzes the first reaction in the Cholesterol catabolic pathway in the liver, which converts Cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of Cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]

CYP7A1 Products (1)

mRNA	Protein	Name
NM_000780.4	NP_000771.2	cytochrome P450 7A1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables cholesterol 7-alpha-monooxygenase activity	IDA IDA: Inferred from direct assay	12077124	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bile acid biosynthetic process	IDA IDA: Inferred from direct assay	19965590	GOA
involved in cellular response to glucose stimulus	IDA IDA: Inferred from direct assay	19965590	GOA
involved in regulation of bile acid biosynthetic process	IDA IDA: Inferred from direct assay	19965590	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
cytochrome P450 7A1	24-hydroxycholesterol 7-alpha-hydroxylase

CYP7A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85425	CYP7A1 Antibody (YA5117)	WB	Human, Golden hamster

Related Diseases

Diseases	Alias
Hypercholesterolemia Due To Cholesterol 7alpha-Hydroxylase Deficiency
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Extrahepatic Cholestasis	Cholestasis, Extrahepatic Extrahepatic Biliary Stasis Extrahepatic Obstructive Biliary Disease Cholestasis Extrahepatic
Xanthomatosis	Xanthomatosis, Susceptibility To Xanthelasmatosis
Cerebrotendinous Xanthomatosis	CTX Cerebral Cholesterinosis Cholestanol Storage Disease Xanthomatosis, Cerebrotendinous Sterol 27-Hydroxylase Deficiency Xanthomatosis Cerebrotendinous Cerebrotendinous Cholesterinosis Cholestanolosis Van Bogaert-Scherer-Epstein Disease
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Cholelithiasis
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Hyperthyroidism	Overactive Thyroid
Intrahepatic Cholestasis Of Pregnancy	Recurrent Intrahepatic Cholestasis Of Pregnancy Gravidic Intrahepatic Cholestasis Pregnancy-Related Cholestasis Icp Pregnancy Related Cholestasis Cholestasis, Intrahepatic Of Pregnancy Familial Intrahepatic Cholestasis Of Pregnancy Familial Recurrent Intrahepatic Cholestasis Of Pregnancy Ricp Obstetric Cholestasis
Cholestasis, Benign Recurrent Intrahepatic, 1	Benign Recurrent Intrahepatic Cholestasis BRIC1 Summerskill Syndrome Bric Summerskill-Walshe-Tygstrup Syndrome Cholestasis, Benign Recurrent Intrahepatic Benign Recurrent Intrahepatic Cholestasis 1 Benign Recurrent Intrahepatic Cholestasis Type 1 Bric Type 1 Low Gamma-Gt Familial Intrahepatic Cholestasis Recurrent Familial Intrahepatic Cholestasis Cholestasis, Benign Recurrent Intrahepatic 1 Mild Atp8b1 Deficiency Recurrent Familial Intrahepatic Cholestasis 1 Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Cholestasis, Intrahepatic, Recurrent, Benign, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3 Bric - [Benign Recurrent Intrahepatic Cholestasis]
Albinism, Oculocutaneous, Type V	OCA5 Oculocutaneous Albinism Type V Oculocutaneous Albinism Type 5
Cholestasis, Progressive Familial Intrahepatic, 2	PFIC2 Cholestasis, Progressive Familial Intrahepatic 2 Progressive Familial Intrahepatic Cholestasis Type 2 Progressive Familial Intrahepatic Cholestasis 2 Bsep Deficiency Recurrent Familial Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis 2 Severe Abcb11 Deficiency Bric2 Cholestasis, Benign Recurrent Intrahepatic 2 Mild Abcb11 Deficiency Cholestasis, Intrahepatic, Familial, Progressive, Type 2
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Cholestasis, Progressive Familial Intrahepatic, 5	PFIC5 Progressive Familial Intrahepatic Cholestasis 5 Nr1h4 Deficiency Progressive Familial Intrahepatic Cholestasis Type 5 Cholestasis, Intrahepatic, Familial, Progressive, Type 5
Functional Diarrhea	Functional Diarrhoea
Sclerosing Cholangitis	Fibrosing Cholangitis Cholangitis, Sclerosing Primary Sclerosing Cholangitis
Cholestasis, Progressive Familial Intrahepatic, 3	PFIC3 Cholestasis, Progressive Familial Intrahepatic 3 Mdr3 Deficiency Progressive Familial Intrahepatic Cholestasis Type 3 Progressive Familial Intrahepatic Cholestasis 3 Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase Cholestasis, Intrahepatic, Familial, Progressive, Type 3
Outlet Dysfunction Constipation
Trimethylaminuria	TMAU Fish-Odor Syndrome Fish Malodor Syndrome Fish Odor Syndrome Stale Fish Syndrome Tmauria Severe Primary Trimethylaminuria Mesh D008661 Fish Odour Syndrome
Pericholangitis
Hypercholesterolemia, Familial, 1	Hypercholesterolemia FHCL1 Fhc Fh Hyperlipoproteinemia, Type Ii Hyperlipoproteinemia, Type Iia Hyper-Low-Density-Lipoproteinemia Hypercholesterolemic Xanthomatosis, Familial Ldl Receptor Disorder Hypercholesterolemia, Susceptibility To Hypercholesterolemia, Familial, Modifier Of Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of Ldl Cholesterol Level Qtl2 Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial, Type 1 High Cholesterol Increased Cholesterol Low-Density-Lipoid-Type Hyperlipoproteinemia Pure Hypercholesterolaemia Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia Group A Hyperlipidaemia Pure Hypercholesterinaemia Cholesterolaemia Essential Cholesterolaemia Essential Hypercholesterolaemia Group A Hyperlipemia Increased Low Density Lipoprotein Low-Density-Lipoprotein-Type Low-Density-Lipoprotein-Type Hyperlipoproteinemia
Cholestasis, Progressive Familial Intrahepatic, 1	PFIC1 Byler Disease Cholestasis, Progressive Familial Intrahepatic 1 Progressive Familial Intrahepatic Cholestasis 1 Progressive Familial Intrahepatic Cholestasis Type 1 Fic1 Deficiency Byler'S Disease Cholestasis, Fatal Intrahepatic Progressive Familial Intrahepatic Cholestasis Severe Atp8b1 Deficiency Fatal Intrahepatic Cholestasis Cholestasis, Intrahepatic, Familial, Progressive, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Bile Duct Disease	Bile Duct Diseases Bile Duct Disorder Disorder Of Bile Duct
Biliary Tract Disease	Biliary Tract Diseases Biliary Tract Abnormality
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Asperger Syndrome	Asperger Disorder Asperger Syndrome, Susceptibility To
Choline Deficiency Disease	Choline Deficiency
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Niemann-Pick Disease, Type B	Niemann-Pick Disease Type B Acid Sphingomyelinase Deficiency, Visceral Type Asmd, Visceral Type Niemann Pick Disease Type B Chronic Visceral Acid Sphingomyelinase Deficiency Chronic Visceral Asmd Npd-B Niemann-Pick Disease B NPDB Niemann-Pick Disease Adult Non-Neuronopathic Form Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression Niemann-Pick Disease Type E Niemann-Pick Disease Type F Niemann-Pick Disease Type I Niemann-Pick Disease Visceral Form Npb Sphingomyelinase Deficiency Sphingomyelin Lipidosis Niemann-Picks Disease Type B Niemann-Pick Disease, Type E Niemann-Pick Diseases Niemann-Pick Disease, Type A
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-106539	Colesevelam hydrochloride		98.00%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-19264	264W94		/	Phase 2

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W008226	Phloracetophenone		99.96%	Unkown
HY-113259	7α-Hydroxy-4-cholesten-3-one		99.60%	Unkown
HY-163436	F44-A13		96.73%	Unkown
HY-N0430A	Coptisine Sulfate		99.37%	Unkown
HY-117147A	GSK2945 hydrochloride		98.49%	Unkown
HY-117147	GSK2945	Activator	/	Unkown
HY-175266	MI1013		99.10%	Unkown
HY-N0430	Coptisine		/	Unkown
HY-RS03487	CYP7A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181761	FXR agonist 16	Agonist	/	Unkown
HY-RS03488	CYP7B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174703	Human FGF19 mRNA		/	Unkown
HY-N13218	Pueraria Extract		/	Unkown
HY-RS17211	Cyp7a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18706	Cyp7b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23663	Cyp7a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25193	Cyp7b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CYP7A1	VGNC	VGNC:103740
Rattus norvegicus	CYP7A1	RGD	RGD:2482
Mus musculus	CYP7A1	MGD	MGI:106091
Canis familiaris	CYP7A1	VGNC	VGNC:50378
Bos taurus	CYP7A1	VGNC	VGNC:110276
Felis catus	CYP7A1	VGNC	VGNC:103328
Others	CYP7A1	NCBI